Our CEO’s College Roommate Has Gone Wild

This is the second installment in our brand new series, "Our CEO's Crazy Friends and Their Science Adventures". Each episode is written by one of our CEO's friends, who is not necessarily a science expert, but wants to share their passion for science. 

Danielle and Heidi.JPG

I’m an English teacher.

I began my college career at Union College as a math major.  Lucky for me, Union’s Common Curriculum requires that every student take coursework across multiple content areas.  One random day during the spring of our junior year, my roommate, who is now the CEO of MyGeneCounsel, suggested I attend a meeting for people who might consider enrolling in Union’s new teacher education program.  “You’d be good at it,” she said.  And so, I graduated as an English major, but I studied all of it.

So I’m an English teacher. 

Garden Volunteers 2017.jpg

Still, I think the most important concepts I teach my middle school students are the connections that they can make among all content areas. The bottom line is that connections create permanent impressions on growing minds.

As a co-advisor to our school’s garden club, our primary goal is to awaken our students’ connection with nature and eating whole foods; we try to emulate other Edible School Gardens around the country and around the world.  Check out this one.

During our meetings that take place during the school year and throughout the summer, we inform our students about the problems with the food industry, introduce them to the concepts of sustainability and healthy eating, and provide them with small ways that they can begin to change the world.   We watch clips like this one, about the Doomsday Seed Vault, the trailer for FOOD, Inc. and the review of the book The Omnivore’s Dilemma to learn more. 

Seed Packets.JPG

We grow our crops from seeds.  We have learned, together, that it’s hard to grow watermelon on Long Island, and that it’s easy to grow broccoli and Brussels sprouts.  We have learned that weeds are strong, and that they are hard to control without pesticides, but that weeding is worth our time.  Most importantly, we have learned that working together is extremely rewarding.  Our club consists of children from all grade levels in our middle school, children from all social cliques, children from all academic tracks, from all ethnic backgrounds.  They are all gardeners, and they nurture one another the same way they nurture their plants. 

~Heidi Edmonds


To see more pictures of our club in action, visit Ronkonkoma Community Garden’s Facebook Page

Genetic Book Lovers Recommend Their Favs

To celebrate National Book Lover's Day we asked our genetics community to share their favorite genetic/healthcare books. Check out all the book recommendations below!

We want to add your book recommendation, tweet us @MyGeneCounsel or email in at Ellen@mygenecounsel.com!

VP in Finance Develops Total Eclipse of the Heart

This is the first installment in our brand new series, "Our CEO's Crazy Friends and Their Science Adventures". Each episode is written by one of our CEO's friends, who is not necessarily a science expert, but wants to share their passion for science. 

Debbie Cantor Rothschild with her son and husband.

Debbie Cantor Rothschild with her son and husband.

My name is Debbie and I’m the most unlikely person to be interested in science.  I work in finance and have done my time on the marketing circuit, but science has never been my strong suit nor my interest.  However, this all changed about a year ago when I started reading about the solar eclipse.  After Bonnie Tyler’s “Total Eclipse of the heart” stopped playing through my head, I dug into research.


As I started to dive in, I learned that science was willing to meet to meet me halfway.  I found podcasts, websites, and inserts in newspapers and magazines that talked to me, someone who doesn’t understand technical terms that I can’t pronounce. Neil Degrasse Tyson has done wonders for science in recent years.  I think much of science is taking his lead.  I discovered that living in Charleston, SC put me in the optimal location to view the eclipse.  I devoured NASA’s website and other science articles – why it happens, what it is, how to view it, etc. 

Solar Eclipse, Photo Credit: visitalton.com

Solar Eclipse, Photo Credit: visitalton.com

Then I spread the gospel.  I told friends who lived far away to make their hotel reservations and I told friends nearby to buy their special viewing glasses (I bought a 10 pack back in March).  I discuss it every chance I get - not just what to serve at an eclipse party (black and white cookies, for sure) - but the science behind it.  After several eye rolls, I've won over my friends too.  Fortunately, both my husband and son are already interested into science, so they happily welcomed me aboard the science train. 

I was thrilled when school was declared closed for the eclipse.  Even more thrilled when invitations to eclipse parties started rolling in.  I have already scouted prime locations, riding around at 2:30 in the afternoon to determine the best view.  I’m happy to welcome NASA and the rest of the media to Charleston, SC. I know there are many other amazing things going on in science and I plan to learn all about them, too.  Until then, I am counting down to the eclipse on August 21, 2017!

Here are some of my resources:


Nasa.gov – They are the go to and most of the information is clear and concise.  They also have a store where you can buy glasses, t-shirts and other eclipse paraphernalia.


Screen Shot 2017-08-18 at 2.23.39 PM.png

Eclipse2017.org – This site dedicates themselves to the safe observation of the eclipse and has a countdown on its page.



The New York Times – They have been running print and website articles all month.  In the August 6th paper there was an eclipse insert filled with tons of info and pictures.  Some of it is available online.



The 2017 Total Solar Eclipse podcast – this is great for regular podcast listeners.  These are short tidbits about the eclipse and list our times in various locations.


Screen Shot 2017-08-18 at 2.24.53 PM.png

Charleston CVB – if you will be lucky enough to be at the epicenter of the eclipse, google “Charleston Goes Dark” and you will be redirected to the Charleston CVB site which lists out all the events going on.  Other cities have these too so check locally to see what is going on.

Learn more in The Journal of the American Medical Association's (JAMA) "Safely Viewing Solar Eclipse" article published today. 

Stay tuned for new episodes of "Our CEO's Crazy Friends and Their Science Adventures"! 

Genetic Counselors and You Webinar Series: Alzheimer’s Disease


The National Society of Genetic Counselors (NSGC) has introduced a new webinar series, “Genetic Counselors and You” hosted by genetic counselors from a variety of fields. Webinars are live and the recording can be accessed later if you miss the streaming. Registration is free and open to the public.

The most recent webinar, “My Risk for Alzheimer’s Disease: Is the Answer in My Genes?”, was hosted by Susan Hahn, MS CGC. Hahn provided an overview of Alzheimer's disease, the role genetics plays in disease risk, and how genetic testing for Alzheimer's differs from other types of genetic testing. You can watch the recording here.

Susan Hahn is a Neurogenetic Outreach Specialist at Quest Diagnostics. She conducts clinical consultations to assist providers with test identification and selection, result interpretation, and appropriate management. Hahn served as President of the American Board of Genetic Counseling, is member of the American College of Medical Genetics, and is an active NSGC leader

To kick-off her webinar Hahn explains why Alzheimer's disease is such an important topic. Firstly, it is one of the most feared disease in America. Alzheimer's disease is the only condition among top 10 causes of death with no cure or treatment and affects 5 million people in US. For the overall population, the lifetime risk of developing the disease is 10-15%. Hahn also cleared up a common misconception, the term dementia is not interchangeable for Alzheimer's disease. Rather, Alzheimer’s disease is the most common type of dementia.

Hahn’s Key Points:

  • Even in the absence of family history we are all at risk for Alzheimer’s Disease

  • The gene, APOE, is neither necessary nor sufficient alone to cause Alzheimer’s Disease

  • Genetic Counselors work with you to understand your genetic risk, genetic testing and genetic testing results. They also help you adapt to and understand this information.

Hahn explores the types of Alzheimer’s Disease, which can be categorized into Mendelian, complex family and sporadic. She also explains APOE’s correlation with Alzheimer’s Disease and the risk information provided by APOE genetic test results. It is recommended that prior to testing patients first meet with a genetic counselor to learn more the risks/benefits/limitations of genetic testing for Alzheimer’s Disease.

Register for the next “Genetic Counselors and You” webinar, “Rare Disease: What Role Do Genetics Play?” on 8/22 at 8pm ET.

Trailblazing Genetic Counselors: Episode 10

This is the tenth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) new website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 380 professionals in the field, all in one stream.

In this episode, we highlight Part II: Program Directors of new genetic counseling graduate programs. Additional training programs are greatly needed to meet the ever-increasing demand for genetic counselors. According to the U.S. Bureau of Labor and Statistics, the projected growth of the field between 2014 and 2024 is 29%. That’s a huge increase compared to the 7% average growth rate for occupations overall.

The genetic counselors in Columbus are all passionate about promoting the genetic counseling profession and ensuring that genetic counselors are integral in all healthcare settings. As part of this mission, the Genetic Counseling Graduate Program at Ohio State University was developed to help meet the growing demand for qualified master-degree genetic counselors.

Ohio State University aims to train genetic counselors who will promote the genetic counseling profession in a scholarly manner. Program Director Dawn C. Allain, MS, LGC explains how they strive to achieve this goal, “we focus on preparing our students to share their genetic counseling expertise through teaching, clinical care, and research. We measure the success of this aim by monitoring our graduates journal publications, grants, teaching experiences, regional/national presentations, and clinical successes (such as patient advocacy work, new service delivery models or the development of new clinics).”

The program also has a strong focus of encouraging and teaching students to develop and hone their leadership skills for not only their future employment positions, but within the profession. Allain shares why Ohio State University is an exceptional place to accomplish this, “Columbus is home to a great group of genetic counselors who hold positions within several of our genetic professional organizations. Thus, our clinical supervisors and course directors model professional leadership on a day-to-day basis for our students. We encourage our students to volunteer early, and often, for leadership development opportunities and identify mentors who will help them achieve their own professional development successes.”

Students in the program work in prenatal, cardiology, neurology, pediatrics, cancer, laboratory and medical genetic clinics. Clinical sites in the Columbus area include Ohio State University Wexner Medical Center, OhioHealth, Mt. Carmel Health Systems, Nationwide Children’s Hospital, Dayton Children’s Hospital, and Miami Valley Hospital. Over the summer students have options for clinical sites around the country in locations such as Washington, California, Missouri, Vermont, Michigan and Hawaii.

A unique feature of the program is how early clinical placements begin, “Our students start clinical placements on day one of the first semester.” Allain comments, “Seriously, for the last two years the first day of the semester is a clinical placement day so our students go directly to their clinical placement before they are even in a class.”

Allain outlines two basic and easy things students should do during the application process, “First, you need to remember that you are applying to professional degree programs. As such, you must exhibit and maintain a high level of professionalism during your interactions with graduate programs; from the very first email to the very last thank you. Second, answer the questions asked of you on the application. Developing one personal statement to be used for every application is not in your best interest because although the applications questions have some overlap, there are slight differences in how a program may ask the question. If you do not provide a direct answer to our applications prompts, then this affects the evaluation of your application and may hinder you from being offered an interview.”

Currently the program accepts 10 students per year, and hope to expand to 12 students in the near future. If you're interested in joining a future class, learn more about Ohio State University’s program on their website.

In 2014, a Genetic Counseling Program Development Committee was formed and charged with exploring the feasibility of establishing a Genetic Counseling Program at Bay Path University. A study showed a void of programs specifically in Western Massachusetts which led to many qualified applicants being turned away. In November 2016, the program received accreditation from the Accreditation Council for Genetic Counseling (ACGC).

Program Director, Susan Capasso, MS, EdD, explains that obtaining clinical sites has been one of the greatest obstacles in developing the program, “Many genetic counselors do not have the ability to take on students due to time and space constraints. However, many are excited about being a part of this new hybrid program and are eager to help. It is hoped that as more genetic counselors enter the workforce more sites will become available for all genetic counseling programs so that this will not be as difficult.”

One aspect that makes the program unique is its hybrid online/in-person format. The class of 12 students will start with a two day orientation at the East Longmeadow Campus followed by other meetings with speakers and activities. Students will do community projects with other Bay Path University programs including starting a National Organization for Rare Disorders student chapter.

The flexible delivery of courses allowed Bay Path University to recruit students from different areas in the country and currently the clinical sites are predominantly in Western Massachusetts, New York, and Connecticut, but sites throughout the United States are being added. Capasso believes that “by allowing the students to do their clinicals in different areas, they will have rich and varied experiences. Students will also have rotations in the laboratory, and industry in the program.” A few of their current affiliation sites include Bay State Medical Center, UCONN, Yale, St. Vincent’s Medical Center, New York Health department, and Bay State Molecular Lab. Capasso is also taking requests from students for specific sites across the country.

Students in the program will have a mentored independent research project and will present their research results at the annual Bay Path University Academic Achievement Day. They will also submit abstracts to the New England Regional Genetics Group and the NSGC or other organizations for presentation at the regional and national levels.

For those interesting in applying to the program, here’s what Capasso is looking for in a candidate, “I believe that it is important to have solid grades in the sciences, to develop a strong well written personal statement on why you would like to be a genetic counselor, to be personable with great communication skills, to have worked or shadowed a genetic counselor, and to have some experience working in some capacity with children, families or fellow students. When you come to the interview be yourself and don’t be afraid to express yourself. If you are not accepted into a program try again, strengthen your application. I have been contacted by applicants who did not make it into a program including the program at Bay Path and we discussed what they could do to strengthen their applications. These applicants are currently working to reapply again and approaching the experience in a positive way.”

Check out Bay Path University’s genetic counseling hybrid online/in-person program on their website.


The motivation to start the Thomas Jefferson University genetic counseling program was in a partnership between The Delaware Health Science Alliance, Thomas Jefferson University, the University of Delaware, Nemours and the Christiana Healthcare System. This alliance sought to improve patient care and recognized the importance for a genetic counseling program based on the increasing demand for genetic counselors.

Zohra Ali-KhanCatts, MS, LCGC. Photo Credit: Christiana Care News

Zohra Ali-KhanCatts, MS, LCGC. Photo Credit: Christiana Care News

One of the initial challenges in developing the program was the decision regarding which would be the degree-granting institution; ultimately it was concluded Thomas Jefferson University was the best fit. Once this was decided, Co-Program Directors, Rachael Brandt, PhD, MS, LCGC and Zohra Ali-KhanCatts, MS, LCGC faced the challenge of developing the program in an area with a fellow genetic counseling program nearby, “We developed the curriculum so that the content is integrated vertically (within each term) and horizontally (across terms), with intentionality such that students’ academic acquisition is complemented with related content and applied toward clinical performance in a stepwise fashion. For example, prenatal related content is provided in one term and a prenatal clinical rotation would occur following that term.”

Rachael Brandt, PhD, MS, LCGC Photo Credit: Thomas Jefferson University

Rachael Brandt, PhD, MS, LCGC Photo Credit: Thomas Jefferson University

There is a list of 28 institutions currently in the process of developing affiliation agreements with Thomas Jefferson University, a few include Albert Einstein Medical Center, Atlantic Health System, Bay Health Medical Center, Fox Chase Cancer Center, Geisinger Health System and Recombine.

The program is small with six students in each class. To become one of these students, applicants can take advice from Brant and Ali-KhanCatts, “Students are encouraged to critically evaluate their application to include solid GRE scores (ideally 60th percentile) and a GPA of 3.0 with high grades in pre-requisite classes, to shadow with a genetic counselor to the extent that a recommendation can be provided and ample amount of cases is observed from which students can be reflective during an interview, and to submit a personal statement that reflects the individual, not one that just reiterates the resume. Program Directors want to be moved by the personal statement, so they can understand who the person is applying, not just what he or she has done, but how these experiences have made an impact.”

Explore Thomas Jefferson University's genetic counseling program further by visiting their website.

For a small state, New Jersey is quite diverse, and has a number genetic professionals working both in hospital and non-hospital settings. Until now, there has not been an accredited genetic counseling Master’s program in New Jersey. With today’s job market the need and justification for a program was clear. In 2013, Rutgers University merged with the leading medical school in the state, creating Rutgers Robert Wood Johnson Medical School. This merger between the academic and clinical sides created the right atmosphere for Rutgers’ Genetic Counseling Masters Program (GCMP) to be developed.

Rutger's new program has been met with enthusiasm from genetic professionals across the state. For some, like Program Director Jessica Joines, MGC, CGC, it's exciting to see the revival of the program, “Rutgers was actually a pioneer in the field of genetic counseling, having a program during the 1970s – so it has been quite an honor to have the opportunity to build the program once again. We hope the GCMP alumni will provide a steady stream of genetic counselors to fill openings around the state and beyond.”

As a new program, Rutgers is in the position to shape the curriculum to meet the evolving nature of the profession. New Jersey is home to many biotech and genetic testing companies and Rutgers has collaborated with these organizations to create a variety of experiences and opportunities for their students. Affiliated clinical sites located in New Brunswick include Rutgers Robert Wood Johnson, Rutgers Cancer Institute of NJ, and St. Peter's University Hospital with additional sites throughout the state.

Joines shares that their inaugural class of six students will “begin rotations in the spring of their first year. The goal of these rotations is to practice beginning skills and to observe the practice through a new lens. The main and more in-depth clinical rotations begin in [the following] summer with the objective of allowing students to have ample time to develop advanced skills and also be available to perform all case management roles, including results disclosure and report writing. In their second year, students will each have a semester long rotation with a genetic counselor/professional working in a non-hospital setting (examples include GeneDx, Amicus Therapeutics, Reprogenetics). We aim to have our graduates feel prepared to enter a variety of jobs both inside and outside of hospitals.”

Joines offers her insight as a program director for applicants, “We do acknowledge that it has become increasingly difficult to obtain shadowing experiences (especially for applicants in certain areas of the county) – so think outside of the box for ways to deepen your understanding of the profession – attend Open Houses, watch NSGC master videos, interview genetic counselors over coffee, get involved with support groups for patients and families with genetic diagnoses.” For students who don’t receive admission on their first try, Joines offers additional advice, “If you don’t get in after applying, don’t give up. Many incoming students are re-applicants. Set up a time to speak with the Program Directors of your top choices and find out what you can do to improve and then do it! This shows maturity, dedication, and self-awareness – all qualities of successful genetic counselors!”

Learn more about Rutgers’ program on their website and in-person at their next open house on October 14th!

Interested to hear about more brand-new genetic counseling programs? We have interviewed all program directors with newly ACGC accredited status, the other half of our spotlights are in Part I of this blog post.

You can also check out all other episodes of our Trailblazing Genetic Counselors series here.

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email at ellen@mygenecounsel.com!

Trailblazing Genetic Counselors: Episode 9

This is the ninth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ new website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 380 professionals in the field, all in one stream.

In this episode, we highlight Part I of Program Directors of new genetic counseling graduate programs. Additional training programs are greatly needed to meet the ever-increasing demand for genetic counselors. According to the U.S. Bureau of Labor and Statistics, the projected growth of the field between 2014 and 2024 is 29%. That’s a huge increase compared to the 7% average growth rate for occupations overall.

Florida has far fewer genetic counselors per capita than the other 10 most populous states. The development of University of South Florida’s (USF) genetic counseling program was “primarily driven by this demand for more genetic counselors in Florida and a significant need to improve genetics/genomics education at USF” according to the program director, Deborah Cragun, PhD, MS, CGC. The rate-limiting factor for the four-student class size is this low number of genetic counselors in the area. However, there is a local site for students to complete clinical rotations on-campus through the Division of Genetics.

Photo credit: usf.edu

Photo credit: usf.edu

The program has also received support from genetic counselors across Florida, allowing students to travel for their clinical rotations to sites like Moffitt Cancer Center, Integrated Genetics, and Orlando Health. “Support from practicing genetic counselors in the state is a key strength of our program and we greatly appreciate their willingness to help train the next generation of genetic counselors.” Cragun comments, “As the number of active genetic counselors in the state increases, so will our program size.” Clinical rotations are treated with a gradual-release method with students observing first, then slowly taking on new roles like drawing pedigrees, gathering medical records, and completing paperwork for genetic testing.

Most genetic counseling programs offer a Master of Science in human genetics or genetic counseling. USF’s genetic counseling program is instead integrated within the College of Public Health. Students earn a Master of Science in Public Health (MSPH) with a concentration in genetic counseling. Cragun shares her insight on the benefits of this different style, “This novel MSPH curriculum provides our students with a broader healthcare and behavioral health perspective that we believe delivers added value as scientists learn more about the complex interactions between genetic, environmental and behavioral risk factors and as genetics becomes infused into more aspects of health care and disease prevention”.

Cragun also offers her advice to students in the application process, “We look for students who have made an authentic choice to apply for admission into our genetic counseling program. Whether discussing counseling, shadowing, leadership, or research experience, the strongest candidates are distinguished by their ability to articulate, in writing and during their interview, a commitment to the experience and its contribution toward their future career as a genetic counselor.”

The program’s inaugural class of four students begins in August 2017. To learn more about the program, visit their website.

In 2012, Indiana State University (ISU) created The Center for Genomic Advocacy (TCGA) with the goal of advancing research, education, and a genomic advocates community. Striving to accomplish these goals TCGA developed ISU’s genetic counseling program.

Photo credit: indstate.edu

Photo credit: indstate.edu

When Megan Tucker, MS, LCGC, was approached about the Program Director opening she was “very excited and a little overwhelmed”. She has always enjoyed teaching; within five years of becoming a certified genetic counselor, she set a goal of becoming a genetic counseling program director. Her first year in the new role was spent “working with the faculty and leadership at ISU to finalize our accreditation application, build the content of courses, and identify clinical rotation sites.” One of the largest difficulties Tucker has experienced was identifying clinical rotation sites, “Our local city does not have a strong foundation of genetic counseling services; in fact, there are no genetic counselors within 50 miles. Therefore, we had to design a curriculum that would allow students to travel great distances for their rotations. I have reached out to hundreds of genetic counselors seeking sites that can accommodate students. With so many clinics understaffed, that was and continues to be a significant hurdle.”

This obstacle, however, has created a unique aspect of ISU’s program, their affiliation with over 30 different institutions across the country. Local locations in Indiana include Peyton Manning Children’s Hospital, Parkview Hospital, Beacon Medical Group, Deaconess Women’s Hospital, and St. Joseph Health System. Out of state sites reside in Illinois, Kentucky, Tennessee, Wisconsin, Virginia, Arizona, California and South Dakota. ISU’s first eight genetic counseling students finished their first year on campus in May, and are now gaining experience in their two summer clinical rotations. During the second year, students continue their experience with two clinical rotations per semester accompanied by online coursework. Within these clinical rotations, students are exposed to a variety of specialties including general genetics, pediatrics, oncology, prenatal, cardiology, industry, and other specialty clinics.

Another interesting feature of the program is their use of patient simulations. “We have access to the Rural Health Innovative Collaboration (RHIC) which allows for actors to be training and brought in as ‘patients’” Tucker explains, “All sessions are audio and video recorded to allow for discussion afterwards. This is a fantastic opportunity for us to see students in the same situation AND removes some of the pressure that a student might say something ‘wrong’ that could ultimately harm a patient.”

Visit the program’s website for additional information.

Quinn Stein, MS, LCGC and colleagues Gene Hoyme , Jay Flanagan and Casey Reismer,  founded Augustana University's genetic counseling program. Stein explains “there were a confluence of factors that motivated us to start a program, but 2013 was the year when we went from ‘should we start a program?’ to ‘we should start a program’.” A major aspect that contributed to this decision was the potential clinical training partnership with Sanford Health. In January 2014, this future partnership received a major boost when “Denny Sanford, a generous philanthropist, gave $125 to Sanford to establish Imagenetics. Imagenetics is not only intended to bring genetics (and genetic counselors) into primary care, but also contains research and educational components including starting a genetic counseling training program.”

Photo credit: sanfordhealth.org

Photo credit: sanfordhealth.org

Stein has also been closely following trends in the job market, “while we weren’t having trouble recruiting good people to work with us in South Dakota, I was beginning to notice that the list of jobs on the NSGC job postings board was growing longer and longer. It appeared the job market would be strong for the foreseeable future and that we would be serving a regional and national need.”

Serving as the Program Director was not a role Stein expected, “I had never intended to be the program director, only to ensure a program director could be successful in forging ahead and implementing their plan with adequate support. To fast forward, however, I feel quite fortunate to not only be a program director, but to be the director for this program.” Stein has nearly two decades of clinical experience as a genetic counselor at Sanford Health. He also has some institutional leadership experience through Sanford, but the educational accreditation process was new to him.

In the fall of 2016, Augustana’s genetic counseling program welcomed its first class of eight students. The full-time, two-year program is the only one in South Dakota. Student’s first year has an in-class academic focus that shifts to a richer clinical experience in their second year. During the first year all students are placed in Sioux Falls, South Dakota, whereas the second year students train in either Sioux Falls or San Diego, California. Learn more about Augustana’s program through their website and brochure.

Interested to hear about more brand-new genetic counseling programs? Stay tuned for Part II in our next episode, in the meantime read our previous episodes here!

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email at ellen@mygenecounsel.com!

STEM Summer Camps 2017

Photo Credit: westgatecrane.com

Photo Credit: westgatecrane.com

School has ended, but that doesn’t mean kids’ learning should! Summer vacation provides an opportunity for kids to further explore topics of interest, such as those in STEM fields.

STEM stands for Science, Technology, Engineering, and Mathematics. Educating future generations in these fields is not only important for our country as a whole, but also for children to develop critical skills and rise up to the challenges facing us in the 21st century. Through STEM education, we can empower the next generations of thinkers and problem solvers.

There are plenty of online resources to foster learning about the STEM fields (here’s our list of free genetic educational resources). For those looking for more hands-on experiences, STEM camps are an option and widely available! Check out our roundup of STEM camps in the US to enroll in this summer.

Description: “Mad Science summer camps and vacation programs give kids the opportunity to learn about science through our interactive and hands-on science activities. Our summer science programs let children become junior scientists for the summer and embark on a series of science adventures!" Learn more here

Ages: 6-13

Location: Nationwide, find a location near you.

Description: “Active Learning Services' video game creation camps feature seven programs in all. Two introductory and one advanced Gamebuilder Video Game Creation courses, two introductory Kodu courses as well as Scratch 3D Animation and Mod with Minecraft. The programs use our custom designed curriculum and children have a blast as they learn to program a video game using step-by-step instructions while learning a bit about the history of game design, design concepts, game styles, and more! There are no prerequisites. Most programs are a half day, last one-week and a camper can select two to make a full day.” Learn more here.

Ages: 8-16

Location: Nationwide, find a location near you

Description: “Our educational programs are designed to impact young minds through fun, hands-on activities infused with the spirit of innovation. These immersive enrichment programs are led by local, certified educators and promote STEM concepts, as well as 21st century learning skills such as critical thinking, teamwork, and creative problem solving. Each age-appropriate program we offer embraces its own unique characteristics, but what ties them all together is an exciting environment with no wrong answers, a chance to brainstorm with peers, and an opportunity to build confidence in the natural ability to dream and create." Learn more here

Ages: 5-18

Location: Nationwide, find a program near you

Description: “Whether you’re an absolute beginner or a tech-pro-in-the-making, iD Tech Camps is the ideal blend of STEM learning and traditional summer camp fun. You’ll get a taste of collegiate life, meet new friends, and build awesome tech skills with only 8 students per instructor. ” Learn more here

Ages: 7-18

Location: Nationwide, find a program near you

Description: “We offer 25 Technology Workshops plus Retro Games for daily recreation and fun. Teens ages 13 to 17 learn to program using C#–the most popular programming language for creating windows applications.” Other workshops include coding, designing videogames, creating digital media, and engineering. Learn more here

Ages: 8-17

Location: Nationwide, find a program near you

Description: “A typical day at camp includes both indoor and outdoor science activities, outdoor games, and one super-fun rally! Our science stations include a long-term project that will be completed by the end of the week. Campers will work in small teams to design creative solutions to fun challenges.” Learn more here

Ages: 5-11

Location: Nationwide, find a program near you


Description: “Learn computer science through real-world projects in art and storytelling, robotics, video games, web sites, apps and more! Spend your summer at the hottest tech companies in the world! Plus, connect with female engineers in the field.” Learn more here.

Ages: 15-16

Location: Nationwide, find a program near you

Description: “Girls tap into the power of technology, exploring leadership, entrepreneurship, and social activism along the way. Ideas take shape around café tables in a fresh, empowering setting. Whether your daughter wants to code an app for charity, design her own video game, engineer wearable electronics, or discover the secrets of cyber security, she'll create a project she's passionate about and join an inspired community of girls in STEM." Learn more here

Ages: 10-15

Location: Nationwide, find a program near you

Description: “Explore a wide variety of STEM camps and courses. Design an app, build a robot, and find your passion. Programs include game design, programming, filmmaking/photography, 3D modeling/design, robotics/engineering, music production.” Learn more here

Ages: 6-17

Location: Nationwide, find a program near you


Attending one of these camps or another STEM camp? Share with us on social media by tagging @mygenecounsel on Twitter and Facebook, include #STEMcamps in your post!

My Tumor Carries A BRCA Mutation. Does This Mean I’m A BRCA Carrier?

Photo Credit: afrmcblog.org

Photo Credit: afrmcblog.org

When we read about genetic testing in the mainstream media, we often think of the testing Angelina Jolie had, called germline genetic testing.  This analysis looks for genetic changes in our DNA that are found in most of the cells in our body, including cells in the blood, saliva, and cheek cells, which are generally the samples tested.  DNA is inherited from our biological parents -50% from our mothers and 50% from our fathers.  Genetic changes found in our DNA are often inherited from one or both parents and can be passed on to children. 

Another type of genetic testing has gained popularity over the past decade, and that is somatic or tumor testing.  All tumors have genetic changes that cause the cells within the tumor to grow under its own control and ignore many of the natural checks of a normal cell.  Genetic testing on a tumor sample involves gathering cells from a tumor, usually by biopsy or surgical removal, and performing genetic testing on those tumor cells.  This testing can lead to better understanding of the tumor and which therapy would be most effective.  Mutations found in a tumor often arise only in that tumor, and not in the other cells of a person’s body.  This testing is also called precision medicine or personalized medicine. Many companies, including Foundation Medicine, focus on somatic testing. 

Somatic mutations are usually not inherited – but sometimes they can be inherited.  In fact, the NCCN guidelines recently changed to include people who have a BRCA mutation detected in their tumor as candidates for germline testing.  This additional testing will help determine if they also carry that BRCA mutation in the rest of the cells of their body*. 

If a person does carry a germline mutation in BRCA:

  • he/she is at risk for the other BRCA-related cancers, and
  • can pass this mutation on to children

If a person does not carry a germline mutation in BRCA:

  • this mutation is most likely present only in the tumor. 

Germline testing would, therefore, be important to determine whether other family members are at increased risk to develop cancer, to make informed decisions about medical management, surgical- and radiation-decision making, and also to reduce the risk of developing another BRCA-related cancer.  Such testing is important to both men and women.

Keep in mind that BRCA mutations can be found in all types of tumors – including those outside the spectrum of BRCA cancers.  A person diagnosed with lung cancer, for example, could be found to carry dozens of mutations in that tumor, including a BRCA mutation.  That finding could then lead to germline testing.

Also keep in mind that there are hundreds of genes involved in tumor genetics, and BRCA1 and BRCA2 are only two of them. 

In summary, as we learn more about precision medicine and somatic genetics, we will likely learn of more and more areas of crossover that may require genetic counseling and germline testing.  

*NCCN Guidelines 2.2017.  

The CRISPR Craze

On a sunny Saturday in June, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new scientific technology that has the world talking.

This technology has become the new star in genetic editing technologies (and will quite literally be in the plot of a new and upcoming “self-titled” television show with Jennifer Lopez); it’s called CRISPR.

The term CRISPR was coined in 2002, but scientists have only been using this technology since 2012. What has CRISPR been able to do? What has it contributed to research? With the technology affecting so many areas of science, UCONN’s event focused on it’s impact on imprinting disorders, discussed below...

Photo Credit sciencemag.com

Photo Credit sciencemag.com

CRISPR stands for Clustered Regularly-Interspaced Short Palindromic Repeats, but don’t get lost in the name.  In short, CRISPR  can “delete” and “replace” genes, which is referred to as ‘editing the genome’. But did you know that CRISPR can also modify the epigenome? The epigenome is the collection of DNA modification that does not change the DNA sequence, but rather affects the activity of genes, meaning which genes will be expressed and the rate of expression.

Photo Credit: Pinterest

Photo Credit: Pinterest

Think of the genome (DNA) as a piano with the piano keys representing genes. Editing the genome would be like taking a key out or replacing one. Whereas modifying the epigenome would be like changing which notes are actually being played and how often they are being played. CRISPR technology can now accomplish both methods of editing. For a more complete explanation of how this technology works, check out our blog post, CRISPR Technology Explained.

Photo Credit: UCONN

Photo Credit: UCONN

Chris Stoddard, who operates the Human Genome Editing Core at UCONN Health, elaborates on how these two different CRISPR editing methods work,

“[In genome editing] CRISPR [Cas-9 proteins] are directing a double stranded break in the DNA, this stimulates a repair pathway. If we include DNA into this system it will use it as a template to repair this double stranded break. [To modify the epigenome] you mutate two domains in the CRISPR-Cas9 protein, it becomes ‘dead’ Cas9 and won’t cut the DNA anymore. The guide RNA is like the GPS and tells the Cas9 protein where to go. In the truck of the Cas9 protein will be the cargo, the effector proteins, which will do the work on the epigenome. You can recruit proteins to activate or silence genes.”

he UCONN Health CRISPR expert also shared the origin of CRISPR, “CRISPRs [are derived from] the bacterial adaptive immune system. They are a way for bacteria to recognize invading DNA and destroy it. Once a bacteriophage/virus infects a bacteria, and the bacteria survives, it has a memory of that DNA. A later transduction by that that bacteriophage/virus will get destroyed and the bacteria will survive again. Every time a bacteria gets attacked and survives, that bacteria incorporates a part of the genome from the bacteriophage/virus. The CRISPR locus just keeps growing. When that bacteria divides, all of its descendents contain [this information].”

Photo Credit UCONN

Photo Credit UCONN

Dr. Michael O’Neill, the Assistant Director of the Institute for Systems Genomics and Associate Professor at UCONN, is utilizing CRISPR to study autism spectrum disorder by exploring how genes on the X chromosome may play a role.

Although estimates show that roughly 1,000 genes play a role in autism, the mutations that have been associated with the condition are fairly common. Dr. O’Neill explains that it’s only when dozens of these mutations are brought together that a threshold is reached for a person to be considered on the autism spectrum.

Since this disorder affects males more than females (4 to 1), the thought is that some of the genes involved could be X-linked (an inheritance pattern affecting primarily males). To conduct his research, Dr. O’Neill is using mice cells with Turner’s syndrome, a sex chromosome disorder where females only have one instead of two X chromosomes. The parental origin of the single X chromosome in these mice are also identified as maternally or paternally derived. Armed with CRISPR, Dr. O’Neill compares the gene expression rates between maternal and paternal X chromosomes in the Turner syndrome mice cells.

Dr. Stormy Chamberlain and Dr. Marc Lalande are pioneers in researching the imprinting disorders, Angelman Syndrome and Prader-Willi Syndrome. These two disorders don’t appear similar. Angelman Syndrome patients suffer from lack of speech, seizures, development delays,  and walking and balance issues; Prader-Willi Syndrome patient’s symptoms include obesity, intellectual disability, and shortness in height.

Here’s the catch, these disorders are caused by the same genetic mutation, usually a small deletion on chromosome 15. How does the same deletion cause two different disorders? It depends on the parental origin of the chromosome with the deletion. If the deletion is on the chromosome that was inherited from the mother, that patient has Angelman Syndrome. If the same deletion is on the chromosome that was inherited from the father, that patient has Prader-Willi Syndrome. This is due to the phenomenon called genomic imprinting.

Genomic imprinting is an epigenetic occurrence in which specific genes are silenced based on parental origin of a chromosome (condensed units of DNA). Instead of genes being expressed from both chromosomes, certain genes will be silenced or inactivated on one chromosome. For example, if a gene from the father is imprinted (turned “off”) the same gene on the maternally inherited chromosome will be expressed (assembled into proteins). It’s important to note that not all genes are imprinted, only some have this effect.

Dr. Stormy Chamberlain, Assistant Professor of Genetics and Genome Sciences and Associate Director of Graduate Program in Genetics and Developmental Biology at UCONN Health, is researching Angelman Syndrome through neuron cells. These neuron cells have a point mutation in the UBE3A gene, and therefore have Angelman Syndrome. Dr. Chamberlain designed a CRISPR that specifically targets this mutation. An interesting find is that this gene (UBE3A) is imprinted in neurons, but not in most cell types.

Photo Credit: hartfordbusiness.com

Photo Credit: hartfordbusiness.com

Dr. Marc Lalande, who holds the Physicians Health Services Chair in Genetics and Developmental Biology at UCONN, is researching if he can “turn on” imprinted copies of genes in Prader-Willi Syndrome. The genes involved in these disorders are located on chromosome 15 and are imprinted or “turned off” in the maternal chromosome. Dr. Lalande is attempting to turn those genes “on” to prevent/treat Prader-Willi Syndrome. This process starts by identifying the vital genes to be which need to be “turned on”. Similar to Dr. Chamberlain, Dr. Lalande is using CRISPR on neuron cells to conduct his research. So far his experiments have worked!

If you are interested in learning more about UCONN’s genetics, check out their Diagnostic Genetic Sciences program! UCONN is also currently developing a genetic counseling graduate program and targeting a Fall 2019 opening, more details to come.

Trailblazing Genetic Counselors: Episode 8

This is the eighth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ new website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 380 professionals in the field, all in one stream.

In this episode we highlight genetic counselors who practice in geographical areas of the world in critical need of more genetic counseling services. Our first genetic counselor is Maggie Miller, M.S. who practices in Anchorage, Alaska. The second feature is of a group of genetic counselors in South Africa. 

Maggie Miller is a genetic counselor at Providence Alaska Medical Center in Anchorage, Alaska

Maggie Miller is a genetic counselor at Providence Alaska Medical Center in Anchorage, Alaska

Genetic counseling is my dream career. I stumbled upon the field when my sister received genetic counseling for a surprise pregnancy at age 41. I was a 19-year-old college student who had bounced around most of the medical career options, and was struggling to find something that kindled my passions.

I was born and raised in Alaska and always planned to create a life for myself here. Another of my (three) older sisters is an oncology nurse and I was amazed by the work she and her colleagues did, but couldn't quite see myself in their shoes.

While attending graduate school I fell in love with cancer genetics; the idea that I could help to prevent cancer was so positive and empowering. I learned that Providence Alaska had recently received Commission on Cancer certification as a community cancer center, which requires access to oncology genetic counseling. It was a dream come true, a job available in the place I wanted to be, doing exactly what I wanted to do.

For the past 12 years I have been providing oncology/hematology genetic counseling at Providence Cancer Center in Anchorage. My practice has grown from 50 patients in my first six months to nearly 500 patients each year, with a (unfortunate) four-month waiting list at this point.

We began recruiting for a second genetic counselor in February 2016. After a year of searching, we were able to connect with a graduating student who I'm happy to announce will begin July 31, 2017. As you can imagine, the waiting list continued to grow as we searched for a perfect fit.

This winter, I was approached by the Genetic Support Foundation to discuss the option of Tele-genetic services to help us deal with the backlog while we waited for the start of our new employee. It has been a wonderful and (rather seamless) partnership, as I was already providing telephone genetic counseling services due to the large and complicated geography of Alaska.

I am anxiously awaiting having a partner; it's rather lonely being the only oncology genetic counselor in the state. I've been lucky to develop relationships with colleagues all over the United States via referrals and connections with me through laboratory work. Thankfully I have been able to stay connected with my classmates and supervisors.

Now that our program is growing, I hope to develop into the areas of colorectal cancer referrals, gynecologic referrals prior to non-emergency hysterectomy, and pedigrees on all pediatric cancer patients.

We hope to offer the My Life Our Future study, which provides free genetic testing to individuals with bleeding disorders and to their at risk relatives. I'm excited to be able to play such an important role for patients and families and understanding bleeding disorders.

Another area that we have begun to look into, but requires much further and deeper study, is colorectal cancer and gastric cancer in Alaska Native patients. Patients with Alaska Native ancestry are two times more likely to develop colon cancer, and are three times more likely to develop gastric cancer compared to Americans of European ancestry. To date, even using large, multi-gene panels, there have been no founder mutations identified. Theoretically, there may be a mutation that is not currently identifiable, although it is suspected that a familial pattern is at fault.

The community has taken action and is offering colon cancer screening to people of Alaska Native ancestry beginning at age 40. However, this resource is finite and often requires travel in from remote Alaska to complete the screening. A familial risk modeling system could greatly assist in determining who truly needs early colonoscopy and how frequently.

When I first started as an oncology genetic counselor I also provided some general pediatric genetic counseling. At that time our state had one half-time genetic counselor providing pediatric general genetics and a private perinatology office had a second genetic counselor working three-quarter time. When my colleague starts at the end of July, Alaska will have five practicing genetic counselors offering perinatal, general pediatrics, oncology, hematology, and adult genetics services.

Alaska is full of geographic, cultural, and language-barrier challenges which helps make this a wonderful and diverse place to live. However, Alaska being one-fifth the size of the continental United States also means that patients and families have to face a lot of travel to get to Anchorage, our largest city, for care. Our pediatric genetics clinic contracts for geneticists from Oregon to see patients every two months for two days in Anchorage and a third day in one of six remote locations throughout the state. I have been providing telephone-based services to help alleviate travel needs, and we hope to offer more satellite clinics in the future as our genetic counseling workforce grows.

Despite some of the challenges of providing care here, genetic counseling continues to be my passion and it’s exciting to imagine how we will continue to expand and develop new ways to provide this valuable service to our communities.

The global recommendation to provide genetic services for developed countries is having 3 medical geneticist and 10 genetic counselors per million population. However South Africa only has 0.2 medical geneticists and 0.4 genetic counselors per million*. 

National Health Laboratory Service and The University Witwatersrand's Genetic Counseling Manager, Shelley Macaulay, explains how different areas are impacted by this disparity of genetic counselors, "Out of 9 South African provinces, 5 do not have genetic services: Limpopo, Mpumalanga, North West, and the Eastern and Northern Cape. There is a dire need for more genetic counsellors in South Africa but sadly, the rate limiting factor is availability of jobs."

We are striving to change these statistics with genetic counseling training centers at University of Witwatersrand and University of Cape Town. Macaulay shares that challenges the programs face include "lack of paid internship positions and job availability due to a lack of funding in academic and government sectors."

South Africa's University of Witwatersrand hosts 4 Genetic Counselors, 1 Genetic Nurse plus 6 Medical Geneticists.

South Africa's University of Witwatersrand hosts 4 Genetic Counselors, 1 Genetic Nurse plus 6 Medical Geneticists.

University of Cape Town, in South Africa, team includes 2 Genetic Counselors and 2 Medical Geneticists.

University of Cape Town, in South Africa, team includes 2 Genetic Counselors and 2 Medical Geneticists.

We definitely need more awareness in the health sector; there is very little genetics in the nursing curricula and therefore very few nurses at the government (public) hospitals are recognising which patients should be referred for genetic counselling, despite giving in-service training. The turnover of doctors in the government hospitals is so rapid, that despite giving in-service training within the hospitals to the paediatricians and obstetricians, very few of them refer to our service. Increasing the awareness of our genetic services at the local hospitals is a high priority, and we are currently creating posters and leaflets to distribute to the various clinics at the hospitals, both private and public. We have a major problem with job availability and paid intern posts; with more counsellors, we could do more outreach clinics and reach a vast number of patients. 

The awareness level of genetic counseling is mostly amongst patients who have a child/family member with a genetic condition and who have been referred to our clinics. Sometimes by word of mouth from patient to patient. Certainly limited at the local authority clinics. Certain groups like the Albinism Society, hold regular meetings in the communities, so there is good awareness of this condition; however, we still have very few referrals from this group. The Down syndrome support groups also run regular meetings in various communities, but once again, it is only those with affected children who tend to be fully aware of genetic counseling. 

All genetic counselors in South Africa are generalists; although most have personal “specialities” and preferences, all conditions are seen by all counsellors. 

  • Pediatrics
    • Including Down syndrome, albinism, haemophilia, sickle cell anaemia, spinal muscular atrophy, Duchenne muscular dystrophy and many other childhood conditions
  • Prenatal counselling and testing
  • Postnatal with fetal abnormalities
  • Cancer clinics in private and public
  • Adult conditions including Huntington’s disease, spinal cerebellar ataxia

Resources for ourselves and our patients are limited, particularly in the public sector due to financial constraints. However, our private patients have access to a large amount of testing options both locally and internationally. The hospitals do have resources in that they have specialists in all fields including physiotherapy and occupational therapy, audiology and speech therapy, ear nose and throat specialists, cardiologist, dermatologist etc, so we can refer patients in the public sector to these specialist clinics.

*Recommended by the Royal College of Physicians UK & the Association of Genetic Nurse and Counsellors UK (AGNC).


Check back for the next episode of "Trailblazing Genetic Counselors" and read our previous episodes here! Nominate a colleague who deserves the title by tweeting us at @mygenecounsel or emailing at ellen@mygenecounsel.com.

4 Years Post-Gene Patents: How Has Life Changed In The Genomics World?

Photo Credit: aclu.org

Photo Credit: aclu.org

Four years ago today, in a landmark decision, the Supreme Court of the United States, in a unanimous 9-0 decision banned gene patents.  What has changed in the genomics world in these past four years?  And what changes are yet to come?

  1. Within 5 hours of the decision, laboratories began offering genetic testing for mutations within the BRCA1 and BRCA2 genes at half the $4400 price that the commercial laboratory, Myriad Genetics (defendant in the Supreme Court case), that held the patent had been charging. 
  2. Multiple laboratories began offering BRCA1 and BRCA2 testing as a part of large cancer panels that included many other cancer genes.  This pushed the entire field of genetics into a new era of panel testing, which aided in the detection of mutations that wouldn’t have been tested for/found previously, and will contribute to our understanding of risk associated with each gene.
  3. All new laboratories began sharing their data in public databases. (Learn more about the significance of data sharing in genetic testing.)
  4. The percentage of results with unknown meanings (known as variants of uncertain significance (VUS)) in these public databases decreased significantly, improving result interpretation.
  5. Some insurance companies began favoring laboratories that shared data.
  6. The cost of cancer genetic testing dropped to $249 by one lab, making self-payment an option for many consumers.
  7. The criteria for cancer genetic testing widened.
Photo Credit: ipcloseup.com

Photo Credit: ipcloseup.com

Sandra Park, Senior Staff Attorney at the American Civil Liberties Union (ACLU), weighed in on the impact banning gene patenting has had, "The Supreme Court win removed a huge barrier to patient access to genetic testing, the development of new and more comprehensive tests, and genetic research. As genetic testing becomes more commonplace, it is even more crucial to ensure that patients are empowered to make the best decisions for themselves and their families and to shape the course of genetic research.  On the legal and policy front, the ACLU is committed to advancing patients’ rights to genetic privacy, which includes the right to obtain one’s own genetic information after testing and protection from genetic discrimination." 

The BRCA patents were abolished within a month of Angelina Jolie’s public disclosure that she carried a BRCA mutation and had chosen to have both breasts removed preventively.  The combined news coverage from these two events increased knowledge about cancer genetic testing and boosted interest in testing.

"The increased volume of patients having testing and the relatively small number of cancer genetic counselors nationwide led many providers to take on the role of ordering and interpreting genetic tests," our CEO/President, Ellen Matloff, who was also a plantiff in the case, shares. "This is occurring while result interpretation is growing more and more complex because more genes are added to panels.  Concurrently, many cases of result misinterpretation have been reported, resulting in unnecessary surgeries and/or advanced cancer diagnoses for patients and their families."

Widespread result misinterpretation has underlined the need for accurate genetic counseling as part of the genetic testing process. This need for accurate genetic counseling will continue to intensify as mutations and VUS in rare genes are identified, and as we find more common mutations in families that do not have the expected cancer histories we see in more traditional cancer families.  My Gene Counsel has created a digital, scalable genetic counseling solution that will help to solve this problem.  

#NSGCGenePool First Annual TweetChat

The National Society of Genetic Counselors (NSGC) has launched the NSGC Digital Ambassador Program (#NSGCGenePool) to bring together social media influencers in the genetics field. The group consists of 15 ambassadors, including our President/CEO, Ellen Matloff. These ambassadors each have a unique perspective and knowledge in various areas of genetics and genetic counseling. The goal of this new program is to help raise awareness about the role of genetic counselors and to promote interest among their networks. 

Colleen Caleshu led our first TweetChat on Thursday, May 25th, and we were joined by many other Digital Ambassadors as well. Check out the highlights of our conversation below! Want to read the entire discussion? Here's the transcript.

Have a question or comment you didn’t get to contribute? Please post in the comments below or tweet using the hashtag, #NSGCGenePool. 

Keep up with upcoming discussion and other genetics news by following us on Twitter and Facebook along with our fellow NSGC Digital Ambassadors: 

@BRCAresponder @brochman @GCBrianne @colleencaleshu @dawallach @AliveAndKicknDD @womenofteal @ShewithLynch @Genomeducator @DrKhouryCDC @GeneticsRebekah @RobertCGreen @chicagogenetics


Tips for Genetic Counseling Job Interviews

For decades the field of genetic counseling has been growing exponentially, with the number of Certified Genetic Counselors increasing by 88% since 2006 (NSGC). The projected job market over the next decade is projected to increase by ~29%, in comparison with only 10% for "other healthcare practitioners and technical occupations" (BLS). The CT Department of Labor ranks genetic counseling as the third fastest growing job in Connecticut, with a 42.9% growth rate between 2012-2022 (CT DOL). 

So how can you obtain one of these many jobs? The first step is to graduate from an accredited graduate level genetic counseling program (here's advice on how to get into those universities). With a genetic counseling degree, you are eligible to apply to many genetic counseling jobs.

In order to land one of these many genetic counseling positions, first you have to apply. Don't be intimidated - now is the time to go for it! Be sure that your application is complete, without spelling and grammatical errors, and that you stress what you could bring to THAT position -- using a boilerplate cover letter and resume for every job is an error that many applicants make.  Tailor yours to fit THAT job description.  This will hopefully lead to an interview.   

Your next step is a big one, rocking your interview.  But don't forget, you also want to make sure that the position is the right one for you - so pay attention to the people, the environment, and the way they treat their employees.

To help you prepare for your next interview we asked genetic counselors to pass on their insider advice. Check out their words of wisdom below to help you land the genetic counseling job of your dreams!

We also suggest that you read our Trailblazing Genetic Counselors blog series to learn about various career opportunities in our field. Check out the LinkedIn profiles of the genetic counselors below to read their backgrounds and follow them on Twitter (click their name after their quote). Here's our Genetic Counseling Twitter list of over 360 professionals in the field who are also active on Twitter. 



“Be curious about the organization's culture and be confident in your value and experience”  ~Robin Schwartz, Assistant Professor and Hereditary Genetic Counselor at UCONN Health






“Know the difference between negotiables and non-negotiables. Do not settle!!! I almost settled for my first job. I'm glad I didn't” ~Matt Tschirgi, Medical Science Liaison at Progenity, Inc. and Founder and Managing Director at Genetix Consulting, LLC




“Be precise about what segment you deal with, i.e doctors, other medical professionals, patients or researchers, because the same genetic intervention has to be presented in a different manner to all the above people. Genetic counselling is very vast then it actually defines. Be confident and accurate about your knowledge about genetics, questions can come up from anywhere.” ~Ruchi Galati, Genetic Counselor at Kokilaben Dhirubhai Ambani Hospital for Positive Bioscience Ltd.



“You can use your genetic counselling skills for a number of different types of work--it's all in how you market yourself. Confidence counts and if you're applying outside the field, never apologize for being a genetic counselor. Don't forget to check Glassdoor too--sometimes people post interview experiences.” ~Leslie Ordal, Clinical Research Manager, Medical Writer, and Genetic Counselor



“What stood out when I applied for my job is that the other counselors had been there for 10+ years! Talk aloud to yourself at home: about yourself, interesting topics in genetics, your accomplishments. It'll warm you up! If a job's not the right fit for you, you don't want it! Interviews are like dates: not proving you're the best, but seeing if you and the job are the right fit for each other.” ~Brittany Gancarz, Prenatal Genetic Counselor at UCONN Health



“Many genetic counseling positions have no growth track (i.e., Jr/Sr GC). Another critical issue for job satisfaction and professional/financial growth. Ask! Once you get the job, do not accept it without ensuring the position will pay for >1 conference/year (all expenses). This is a must for professional development.” ~Scott Weissman, Founder of Chicago Genetic Consultants, LLC



(Photo Credit: Vimeo.com)

(Photo Credit: Vimeo.com)




“Research the position, program, and responsibilities and come prepared with ideas for how to improve and expand it!” ~Carin Espenschied, Cancer Research Specialist at Ambry Genetics







“Focus on why you would be a good fit for THAT job, not just A job. Shows you've done your homework.” ~Andria Besser, Genetic Counselor at NYU Langone Medical CenterCounsyl, and the Center for Rare Jewish Genetic Disorders. 





“Be clear on why you want that particular job since they will likely ask, but TELL them why THEY WANT YOU...what do you bring?” ~Carrie Haverty, Genetic Counselor and Clinical Product Director at Counsyl





“REALLY hard to stand out as a new graduate. Research your new role and tell them how you can build on their accomplishments. At the same time, new graduates don't know everything and hirers know that. Don't get too cocky! Confidence is a fine line. ” ~Andrea Forman, Senior Genetic Counselor at Fox Chase Cancer Center




“Observe and ask about the culture of the work environment...if burn-out and dissatisfaction are rampant, take note. With so much job transition, retention speaks volumes, especially in the past 5-or-so years.” ~Erica Bednar, Genetic Counselor at University of Texas MD Anderson Cancer Center




“Mentally review key cases you've seen (even as student) and what they show about you as a genetic counselor/colleague. Fodder for behavioral questions. Always have 'go to' stories: The time I...'disagreed with my supervisor', 'made a mistake', 'had a difficult patient' etc.” ~Alexis Carere, Genetic Counselor & Post-doctoral Fellow in Epidemiology at McMaster University



“Be prepared - ask others what are common questions you may be asked. Know your own history well (work, studies, extracurricular activities) so that you can comfortably talk about yourself - your positive attributes and your weaknesses where you want to improve. Don't be afraid to talk about yourself in a positive way - you have been offered an interview for a reason. And for case questions, it's okay to not know the answer - demonstrate that you know how to find the answer.” ~Eliza Courtney, Genetic Counselor at the National Cancer Centre Singapore



“Lunch is not a 'break' from the interview. Lunch is where the chemistry is tested between you and your potential new team. Don't be shy and hang back, get in the conversation!” ~Christine Riordan, Genetic Counselor at LabCorp





“Be prepared with a list of questions of your own, this shows that you're interested in how they do things and that you've thought about what it would be like to work there.” ~Kathryn Sargent, Cancer Genetic Counselor at Carle Foundation Hospital





“Learn as much as you can about the people you will meet during the interview process including their professional interests and accomplishments. Even browse a few publications. This will help you engage uniquely with your interviewers. Once you're prepared, relax and enjoy the experience!” ~Marjan Champine, Clinical Lead Genetic Counselor at Huntsman Cancer Institute


"Research the company or institution ahead of time:  read their website, social media sites, and ask for a list of whom you’ll meet on your interview ahead of time.  Research each of those people, read their publications, review their social media quotes and have at least 2 specific questions for each based on what you’ve learned.  It will let them know that you are serious about them and this job.  Discuss, specifically, what skills you bring to THIS position that would make you a value-add.  Dress professionally, greet everyone formally (Dr., Mr., Ms.) unless they request otherwise, and arrive 10 minutes early.  Send a thank you email within 24 hours, and make it specific to the job.  If you really want the job, send a thank you email to each person you met and tell them why you think you’re a great fit for the job, and vice versa." ~Ellen Matloff, President/CEO of My Gene Counsel

"Before your interview, research the position and the people you will interview with extensively. Consider 3-4 points about yourself, your skillset and how they are applicable to the specific job you are interviewing for. What do you want your potential employer to know about you?  Practice taking about these points beforehand so you can work them into conversation. Think of examples that demonstrate your skillset and personality to add to these conversations. Dress professionally, it shows you are invested and taking the interview seriously." ~Danielle Bonadies, Director of Cancer Genetics at My Gene Counsel

Want Genetic Counselors to Read Your Content? Offer Free ABGC CEUs!

Photo Credit: training4aod.org

Photo Credit: training4aod.org

We at My Gene Counsel are often approached by genetic testing companies, pharmaceutical groups, and patient organizations who want to educate genetic counselors about new technologies, testing options, and disease groups.  Genetic counselors are pulled in so many directions these days - how can you get their attention?  The answer is simple:  offer them free ABGC CEUs!

Continuing Education Credits (CEUs) are required in many professions for credentialing and certification. Genetic counselors are always ISO free, informative CEUs and it's a fantastic way for you to attract the genetic counseling community to the cause you'd like to spotlight! 

Genetic counselors:  what would you like to learn about for free CEUs?  Speak up by tagging a company you want to see offer free genetic counseling CEUs, using hashtag #FreeGCCEUs and #gcchat. Include what type of events and webinars you would like to attend from your tagged company. Not on Twitter? Email us at ellen@mygenecounsel.com. We are excited to see your comments and to continue adding them below. 

Note: Some comments may be combined, condensed or edited for clarity.

“I have seen some great education from @Invitae, @myriadgenetics, @AmbryGenetics, and @GeneDx. More #CEU opportunities would be great! I'm not picky! Make it relevant and interesting and I'm there! #GCChat” ~Andrea Forman, @Andrea_FoxGC

"I'm with Andrea on this one! My picks would be @illumina or @GeneDx :)" ~Amber Gamma, @ambergamma


“I would like to see @GeneDx or @BaylorGenetics because of their experience with prenatal #exome sequencing” ~Brittany Gancarz, @GeneGrayDNA

“CEUs would be wonderful for genetic counselors! It is ironic that those on the real front lines of genomic medicine are faced with such challenges to get free CEUs anywhere. This must change!” ~Deborah McDermott

“Agree that free CEUs would be a plus, especially since other professions are able to earn their respective continuing education credits.” ~Nikita Mehta

“I'm all for free CEU opportunities! Especially ones I can get when timing works for me.” Erica Pai, MS, CGC


"A non-US company" ~Leslie Ordal, @GenCousNews


“ALL OF THEM” ~Scott Weissman, @chicagogenetics



“The more CEU opportunities, the better!!” ~Melissa A. Hicks, MS, CGC


“Free CEUs are great!” ~Kathryn Sargent MS, LCGC



“Excellent for those of us in grad school!” ~Michelle Weaver Knowles


“CEUs would be great!”~Jennifer MacLean



“If I could get CEUs, that would be great.” Emily Smith



Don't forget to add your input on Twitter with #FreeGCCEUs and #gcchat or by emailing ellen@mygenecounsel.com!

Genetic Counselors and You Webinar Series: Direct-to-Consumer Genetic Tests

The National Society of Genetic Counselors (NSGC) has introduced a new webinar series, “Genetic Counselors and You” hosted by genetic counselors from a variety of fields. Webinars are live and the recording can be accessed later if you miss the streaming. Registration is free and open to the public.

The most recent webinar, “Ancestry and Other Direct-to-Consumer Genetic Testing: What to Consider Before Mailing that DNA”, was hosted by Brianne Kirkpatrick, MS, LGC. You can watch the recording here. (This topic is particularly timely with the recent news that the FDA has approved 23andMe to release genetic risk information on 10 conditions.)

Brianne Kirkpatrick founded Watershed DNA, which helps answer patient questions about online DNA tests from areas such as ancestry, genealogy, or health. She offers recommendations for where to test and provides support and reliable information. Kirkpatrick is a member of NSGC, the International Society of Genetic Genealogy, and the National Genealogical Society.

To kick-off her webinar Kirkpatrick explains the process of ordering a direct-to-consumer (DTC) genetic test and what types of tests are run on patient samples (ex: Karyotypes, Sanger Sequences, Microarray, Next Generation Sequencing). She covers the common information included in most DTC genetic test reports, such as an ethnicity estimate with a map of the world highlighting countries of origin, relationship identification of relatives, raw data files to upload to third party applications, and health and trait information.

Kirkpatrick's Key Points:

  • “DNA can tell you a lot of things… but your destiny is not one of them.” Which reminds us that direct-to-consumer tests are not inclusive of all information about your genetics.

  • "Read the fine print." Make sure you know what you are agreeing to when you consent to a test. Will your DNA be used in research? What information are you willing to find out in your report?

  • "Resources, support and learning exist; know how to find it." There are countless resources online to access. Through NSGC there is About Genetic Counselors and Find A Genetic Counselor along with their Twitter and Facebook Page.

The Big Four Direct-To-Consumer Genetic Testing Companies:

Kirkpatrick overviews the common business model for DTCs, the risks and benefits of partaking in DTCs and being a research participant. To wrap up, questions were taken from the audience about genetic testing for rare diseases, adoptees, and minors/children. Kirkpatrick also demystifies what we know about ethnicity percentage and variants of uncertain signficance (VUSs).

Register for the next “Genetic Counselors and You” webinar, “Genetic Testing and Pregnancy: A Genetic Counselor Guides You Through Your Options” on 4/25 (DNA Day!) at 8pm ET.

Trailblazing Genetic Counselors: Episode 7

This is the seventh installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ new website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 350 professionals in the field, all in one stream.

Debra Duquette, M.S., C.G.C. is a leader in educating the public on health genomics practices. She has authored many journal articles and is active in numerous committees. Duquette received her Masters of Science in Genetic Counseling from Northwestern University. Shortly after, she began her career in the field of reproductive genetic counseling working at the Detroit Medical Center followed by Spectrum Health.

Duquette is currently the Genomics Coordinator at the Michigan Department of Health and Human Services. She has served as the project manager/director on multiple Centers for Disease Control and Prevention (CDC) cooperative agreements. She is the Founder and Chair of the Lynch Syndrome Screening Network (LSSN), a network of 95 institutions teaming up to promote and establish universal screening for Lynch syndrome on all newly diagnosed colorectal and endometrial cancers. (Learn more through our blogs about Lynch syndrome.)

She also leads the Michigan Alliance for Prevention Sudden Cardiac Death of the Young and is the co-chair of the National Academy of Medicine Genomics and Population Health Action Collaborative. Duquette serves on the Executive Steering Committee for the PCORI funded American BRCA Outcomes & Utilization of Testing Network (ABOUT) Network, Facing Our Risk of Cancer Empowered (FORCE) Advisory Board, Institute of Medicine (IOM) Ovarian Cancer Research Committee, and eXamining Relevance of Articles for Young Survivors (XRAYS) Steering Committee.

Amy Gaviglio, M.S., CGC is the Short Term Follow-Up Supervisor/Genetic Counselor at the Minnesota Department of Health. From the beginning of her journey in genetic counseling, Gaviglio knew that she wanted to use the degree in the realm of public health. After graduating from University of Michigan's Genetic Counseling Program she started this position with MDH’s Newborn Screening Program. The role combines her skills in genetic counseling, policy development, and public health. The goal of this Minnesota program is to improve babies’ lives through the screening of over 50 rare disorders. Her primary role within this program is to oversee the follow-up of the approximately 5,000 abnormal newborn screening results from blood spot, EHDI (Early Hearing Detection and Intervention), and CCHD (Critical Congenital Heart Disease) screening each year. In addition to this work, Gaviglio also aids in newborn screening education, genetics education, health information interoperability, and genetics/public health-related policy throughout Minnesota. Gaviglio also holds a special interest in the Ethical, Legal, and Social Implications (ELSI) issues around public health newborn screening programs. To this end, Gaviglio has focused work on population-based informed consent models, as well as the residual uses of dried blood spots and test results from newborn screening programs.

Gaviglio’s public health efforts don’t end in Minnesota; her career expands to the regional and national level with education, policy, and process development in public health genetics. She serves as the current co-Chair of the APHL NewSTEPs CCHD Technical Assistance Workgroup and just completed her term as co-Chair of the National Society of Genetic Counselor’s (NSGC) Public Health Special Interest Group (SIG). This NSGC SIG focuses on public health practice involving more genetics/genetic counseling and teaching genetic counselors about public health theory and practice. She also serves on the Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children’s (ACHDNC) Education and Training Workgroup, is the Chair of Genetic Alliance’s State Education Workgroup, and is a member of the Clinical & Laboratory Standards Institute’s Expert Panel on Newborn Screening. 


Andrea Durst, MS, DrPH, LCGC, is the Assistant Program Director of the  Genetic Counseling Program and Co-Director of the MPH Program in Public Health Genetics at the University of Pittsburgh.  She began her career in cancer genetics, starting a cancer genetic counseling clinic in Louisville, KY.  After several years in the field and being promoted to Manager of the Genetic Counseling Service that she helped to establish, she decided to return to school to earn her Doctor of Public Health in Health Management and Policy.  It was through her experiences in this degree program and her mentors in both public health and genetic counseling that she discovered and fostered her interest in public health genetics and genomics.  After graduating with her DrPH, she joined the faculty at the University of Pittsburgh, where she brings her experience of clinical cancer genetic counseling, management and public health genetics into the classroom through teaching courses in both genetic counseling and public health genetics. Outside of teaching Durst also provides mentorship to students, provides guidance on student research projects, contributes to ongoing program development and coordinates student clinical rotations.

Her research interests have focused on the state implementation of CDC Tier 1 Genomic Applications for Hereditary Breast and Ovarian Cancer syndrome and Lynch syndrome. Durst has collaborated on public health genomics projects conducted by the CDC Office of Public Health Genomics and the Genetic Alliance to develop educational materials on bidirectional cancer registry reporting for the identification of individuals at risk for Hereditary Breast and Ovarian Cancer syndrome and Lynch syndrome. She serves as a the facilitator for the Region 4 Genetics Collaborative Newborn Screening Long Term Follow-Up Workgroup.

Durst holds the title of Vice-Chair of NSGC’s Public Health SIG, alongside Chair Amy Gaviglio. She is also the Secretary/Treasurer of the Pennsylvania Association of Genetic Counselors. She received her BS in Biology, MS in Genetic Counseling and DrPH in Health Management and Policy at Cornell University, University of North Carolina at Greensboro, and University of Kentucky respectively. 

Check back for the next episode of "Trailblazing Genetic Counselors" and read our previous episodes here! Have a colleague that you think should be highlighted in our series? Tweet us at @mygenecounsel.

TweetChat: Lynch Syndrome And Other Hereditary Colon Cancer Syndromes

To conclude Lynch Syndrome and Colorectal Cancer Awareness Month, we held a tweetchat, #GenCSM, with our phenomenal co-hosts Georgia Hurst and Amy Byer Shainman and special guest Heather Hampel, MS, LGC. Hampel is a genetic counselor at The Ohio State University Comprehensive Cancer Center. Her research interests include screening all colorectal and endometrial cancer patients for Lynch syndrome. Here are highlights from our exciting and thought-provoking chat! You can also view the full transcript here, (thanks Amy Byer Shainman for compiling).

The conversation then opened up for participants to ask Heather Hampel questions and highlight important hereditary cancer points. 

Have a question or comment you didn’t get to contribute? Please post in the comments below or tweet your response with #GenCSM. Check back for our next tweetchat; we host every two months! While you wait, check out our highlights of previous tweetchats. 

Don’t forget to follow us on Twitter and Facebook to receive notifications about upcoming discussions and other news. Also please follow our co-hosts @Shewithlynch and @BRCAresponder and our guest, @HHampel1

Hereditary Kidney Cancer: Part 2

Photo Credit: Urology Care Foundation

In Part 1 of this series on hereditary kidney cancer we discussed risk factors that increase the likelihood of a hereditary predisposition to kidney cancer.  In this post we outline six hereditary cancer syndromes that increase the risk to develop kidney cancer, and their features.

Hereditary Cancer Syndromes that Involve the Kidney

1. von-Hippel-Lindau syndrome or VHL

  • Caused by mutations in the VHL gene.
  • Individuals with this syndrome have an increased risk of developing cysts and tumors throughout the body, mostly in the brain, spine, kidneys, pancreas, and eyes.
  • Because of these increased risks, it is recommended that individuals with von Hippel-Lindau syndrome follow specific screening guidelines beginning as early as 1 year old.
  • People with VHL usually inherit the condition from a parent and have a 50% chance to pass the condition to each of their children.

    VHL and Kidney Findings:
  • Most of the time, VHL-related tumors are not cancerous; however, tumors that grow on the kidneys can turn into cancer.  There are ways to screen for kidney tumors and cancer. If found early, these can be removed.  
  • The type of kidney cancer that usually occurs in VHL is renal cell carcinoma (RCC).
  • If someone has VHL, they have a ~25-60% lifetime risk of developing RCC. 
  • The average age at diagnosis of RCC is 37 years; however, tumors have been detected in people with VHL as early as their late teens-20s.

2. Hereditary Paraganglioma type 4 (PGL4)

  • Caused by mutations in the SDHB gene (succinate dehydrogenase subunit B)
  • Individuals with this syndrome have an increased risks to develop paragangliomas and pheochromocytomas (neuroendrocrine tumors that originate from the nervous (neuro) or endocrine (hormone producing systems).
  • People with PGL4 usually inherit the condition from a parent and have a 50% chance to pass the condition to each of their children.

PGL4 and Kidney Findings:

  •  The type of kidney cancer that usually occurs in PGL4 is renal cell carcinoma (RCC).
  • If someone has PGL4, they have up to a ~14% lifetime risk of developing RCC.
  • These kidney cancers often develop at an early age. 

3. Tuberous Sclerosis (TS)

  • Caused by mutations in the TSC1 and TSC2 genes
  • Individuals with this syndrome have an increased risks to develop abnormalities of the skin, brain, kidney, and heart.

TS and Kidney Findings:

  • The type of kidney cancer that usually occurs in TS is renal cell carcinoma (RCC).
  • If someone has TS, they have up to a ~1-5% lifetime risk of developing RCC.
  • These kidney cancers often develop at an early age (average 28).

4. Hereditary Papillary Renal Cell Carcinoma (HPRC)

  • Caused by mutations in the MET gene
  • Individuals with this syndrome have an increased risks to develop kidney cancer, only.
  • People with HPRC usually inherit the condition from a parent and have a 50% chance to pass the condition to each of their children.

HPRC and Kidney Findings:

  • The most common type of kidney cancer in indivuals with HPRC is papillary kidney cancer.
  • Kidney cancers can develop in one or both kidneys.
  • Most kidney cancers in individuals with HRPC are diagnosed before age 60 and in some cases seen as early as age 20-29.

5. Hereditary Leiomyomatosis Renal Cell Carcinoma (HLRCC)

  • Caused by mutations in the Fumarate Hydratase (FH) gene.
  • Individuals with this syndrome have an increased risks to develop:
    • Specific types of skin findings that may be painful, itchy, and/or sensitive to cold temperatures (cutaneous leiomyomas)
    • Women with HLRCC have and increased risk to develop uterine fibroids (uterine leiomyomas). 
  • People with HLRCC usually inherit the condition from a parent and have a 50% chance to pass the condition to each of their children.

HLRCC and Kidney Findings:

  • The lifetime risk of kidney cancer in individuals with HLRCC is ~10-30%.
  • The average age of kideny cancer diagnosis is ~36-44.
  • The most common type of kidney cancer in indivuals with HLRCC is papillary type II RCC but occasionally other types can be observed.
  • Kidney cancers in individuals with HLRCC tend to be solitary lesions, but are very aggressive and have an signficant risk of spreading, making screening and early detection very important..   


6. Birt-Hogg-Dubé (BHD) Syndrome

  • Caused by mutations in the FLCN (folliculin) gene.
  • Individuals with this syndrome have an increased risks to develop:
    • Characteristic benign skin lesions that usually occur on the face and trunk (fibrofolliculomas, trichodiscomas and acrochodons (skin tags)). 
    • Lung cysts and a risk for collapsed lung.
  • People with BHD usually inherit the condition from a parent and have a 50% chance to pass the condition to each of their children.

BHD and Kidney Cancer:

  • The most common type of kidney cancer in individuals with BHD is a mixed oncocytic and chromophobe type.  However, other types of kidney can also be seen in individuals with BHD.
  • Kidney cancers can develop in one or both kidneys.
  • The lifetime risk of kidney cancer in individuals with BHD is ~15-30%.
  • The average age of kidney cancer diagnosis with BHD is age 50.


Kidney cancer can also be seen in other hereditary cancer syndromes.  We've chosen to highlight six of these syndromes in this series.  Please visit Part 1 of this series to view risk factors that increase the likelihood of a hereditary predisposition to kidney cancer. 


Hereditary Kidney Cancer: Part 1

This article will focus on kidney cancers and the possibility that kidney cancers may be due an inherited risk. It is estimated that ~2-4% of kidney cancers are hereditary. 

Photo Credit: WebMD

Photo Credit: WebMD

Usually, a person is born with two kidneys.  They are located in the rear of the abdominal cavity. The job of the kidneys is to filter blood, get rid of waste products, and make urine.  The kidneys also control the body's fluid balance and regulate the balance of electrolytes (ex: sodium, calcium, and magnesium).

Sometimes, cells within the kidney grow out of control and become cancerous, forming a tumor.  Kidney cancers can be divided into several subtypes: clear cell (~75%), papillary (~10-15%), chromophobe (~5%) and oncocytomas (~5%).

When kidney cancer or benign kidney tumors occur, it is important to document them in your family history and to report them to your physician. This information can help your genetics team determine if genetic testing may be right for you/your family and aids in interpreting your genetic test results correctly. 

Photo Credit: Clipart Kids

Photo Credit: Clipart Kids

The following risk factors increase the likelihood of a genetic risk to kidney cancer.

When any of these risks factors is present in your personal or family history, consider a genetic consultation to learn more.




1. Kidney cancer that develops ≤45 years of age.

2. More than one kidney cancer/tumor in the same person.

3. Strong family history of kidney cancer (≥2 relatives in the same blood line).

4. Kidney cancer with either:

a) Personal or family history of ≥1 other type of tumor that have been linked with a hereditary risk for kidney cancer (ex: specific types of tumors of the endocrine system, brain, pancreas, eyes or uterus.  See Part 2 of this series for more detail).

b) lung cysts or collapsed lung.

5. Specific skin findings that have been linked with a hereditary risk for kidney cancer (Leiomyomas or Fibrofolliculomas).

6. Personal or family history of any of the hereditary cancer syndromes discuss in Part 2 of this post.

Rare Disease Day 2017

Did you know 1 in 10 people in America have a Rare Disease? Individually, Rare Diseases are scarce, but together they are actually quite common with 30 million Americans having a Rare Disease. More than half of those living with a Rare Disease are children…and about 30% of these children will not live to see their 5th birthday (NIH). 

February hosts the rarest day of the year 2/29, which is celebrated as Rare Disease Day worldwide. Since this year wasn't a leap year, Rare Disease Day was celebrated on the 28th, and February was celebrated as Rare Disease Month.

Events sponsored by NORD, the National Organization for Rare Disorders, are held throughout the world. These events target legislators, legislative staff, the public and the media in an effort to raise awareness of the needs of the rare disease community. It is vital to educate our state legislators about the many challenges that the rare disease community faces because important decisions related to rare diseases are made at the state level. 

An event was held at the Connecticut State House on Rare Disease Day itself this year, February 28th. There were a variety of speakers present, including people with rare diseases, legislators, researchers, caregivers and advocates. This year there were representatives from Alexion Pharmaceuticals, Connecticut Children's Medical Center, UCONN, and Yale. 

Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion, spoke about the global pharmaceutical company's focus of bringing therapy to market for rare diseases. Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute, shared about his research on Fibrodysplasia Ossificans Progressive (FOP). His team is using mouse models that carry the same mutation as over 90% of FOP patients. 

Patient advocates, researchers and people afflicted by glycogen storage disorders (GSD) shared their inspiring, ongoing journey of finding a cure. Gayle Temkin is the Founder of Alyssa’s Angels Fund and mother of Alyssa, who has a GSD. She recounted when Dr. David Weinstein sat in her living room talking about how close he was to a cure. She asked him to move from Florida to Connecticut to finish his work; and his team did just that to start the GSD Program at Connecticut Children’s Medical Center. They have since treated patients from 45 states and 45 countries.

Maddison Shaw, Maddie's Herd, leading the young patients panel

Maddison Shaw, Maddie's Herd, leading the young patients panel

Maddison Shaw, Founder of Maddie’s Herd, mediated a panel of other kids with rare diseases, sharing what disease they had, how it effects their life and what they like to do for fun. Kids spoke of how doctors, researchers and caregivers have changed their lives and how they want to and are already making their voices heard in the community. 

Dr. Mustafa Kokhura, of Yale Genetics, focused on the importance of utilizing exome sequencing to identify the mutations causing these rare diseases. By finding mutations, more tailored treatments can be developed for patients. "Connecticut is the perfect place to do this" she shared, "we can transform rare disease research here."

The event had an overall focus on Connecticut's potential to become an even larger, leading force in the fight for rare diseases. "Connecticut can be a national leader," Fran Reed, CureGSD elaborated on the importance of support on the state level to reach this goal, "a few legislators standing up can change the world." Which is why he and many others urge you, the public, to contact your senators in support of Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council, to make an impact.

To spread the awareness and support of rare diseases we asked members of the rare diseases community to share what aspect of their rare disease they wanted the people to learn about. Check out the responses below! Want to be featured with a quote about your rare disease? Tweet us @mygenecounsel!



"Condition begins before birth. Child born with defects in kidneys. Kidney can't absorb sodium & potassium. Electrolyte wasting." ~Bartter Syndrome (‏@EthansCure)





"22q11.2 deletion syndrome - probably the most 'common' rare disease never heard of." 22Q11 Ireland ‏@22Q11_Ireland  



"People participating in rare research are heroes. Findings benefit EVERYONE, even when treatment for oneself is not guaranteed. #NIH XP/TTD" Janice Hansen ‏@jjturlington  



“EDS is a complex condition where the healthiest looking ppl are living with chronic pain, fatigue, organ dysfunctions & so much more.”           Nadia, ‏@NadiaBodkin   





"We want a genetic diagnosis. 5 years and 2 whole exome tests with no answers." Sylvie Matthews, ‏@LifeWithStripes






"It's like a struggle on daily basis, sometimes I don't know if I feel active today, it will be the same tomorrow or not #PCDنویرہ ظفر@no1tweets







"That #brca mutation isn't the only high risk breast cancer syndrome. That Cowden Syndrome has risk of brain tumors too." Heather, ‏@ZHeatherChamp  





"Ovarian Cancer > No screening test. ~15% of cases caused by BRCA Mutations. Symptoms-bloating, frequent urination, abdominal pain, and feeling full" Kaleidoscope of Hope@KOH_NJ






"It's not truly rare, just rarely diagnosed. At least not our most common form hEDS & new subcat #HSD" Oh, That's Why I'm So Tired!, @H2OhTwist



"It needs to taught about in nursing schools, med schools, and advocated to cancer research and genetic engineering groups. It's glossed over and often ignored entirely in curriculums. I had signs and symptoms for YEARS before I was finally diagnosed. It's been a very long, exhausting road, a lot in part because providers weren't up to speed on the disease process.” ~Chris (via FAPvoice)


How did you support Rare Disease Day this year? Tweet us @mygenecounsel or leave a comment below!