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

 

direbML7T.png

“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

 

 

4.4.12-2-11.jpg

 

 

 

"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!

Trailblazing Genetic Counselors: Episode 6

This is the sixth 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 340 professionals in the field, all in one stream.

 

Beth N. Peshkin, MS, CGC, has been an active member of the genetic counseling community for over two decades with numerous roles at Georgetown University Medical Center. She is currently a Senior Genetic Counselor and a Professor of Oncology at Georgetown Lombardi Comprehensive Cancer Center. Peshkin serves as the Education Director for the Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research. She is also the Co-Director of both the Nontherapeutic Subject Registry (NTSR) Shared Resource and Familial Cancer Registry.

As a research genetic counselor, Peshkin has published over 100 peer-reviewed articles, commentaries and chapters. Much of her research is focused on the outcomes of genetic counseling and testing for hereditary breast and ovarian cancer patients, including the effectiveness of telephone and internet-based genetic counseling.

Peshkin graduated from the University of Wisconsin-Madison with her MS in Medical Genetics, and is certified by the American Board of Genetic Counseling (ABGC). She also earned a Certificate in Bioethics and Health Policy from the Loyola School of Medicine in Chicago. Peshkin has been involved with many National Society of Genetic Counselors (NSGC) committees as well as other organizations in the field of genetics.

 

DSC_9294.JPG

Debra Collins, MS, CGC, graduated from Sarah Lawrence College with her Master’s Degree in Human Genetics and started working at the University of Kansas Medical Center. She has been working there as a genetic counselor for nearly four decades and her current roles include being an hereditary cancer genetic counselor and the Co-Director of the Genetics and Neoplasia module.

She has been an active member of the NSGC, including being a past President, on the Board of Directors, in the Professional Status Committee and currently in the Cancer Genetics Special Interest Group. In 2006, she was awarded the The Jane Engelberg Memorial Fellowship 2006 Special Award for an online course for genetic counselors. The goal of the project was to teach genetic counselors how to compete in peer-reviewed grant application competitions. Collins also participates in organizations such as The American Society of Human Genetics and The American Board of Genetic Counseling.

 

Wendy-McKinnon-MS-635511321886981424_jpg.jpg

Wendy McKinnon, MS, CGC received her B.A. in Biology from Kenyon College in 1987, followed by her M.S. in Genetic Counseling from the University of Michigan in 1991. Following graduation, Wendy started working at the Vermont Regional Genetics Center, based in the Department of Pediatrics at the University of Vermont, performing prenatal, pediatric, adult, and teratogen genetic counseling. Wendy earned a faculty position, Clinical Assistant Professor of Pediatrics, in the same college.  In 1994, with the formation of the Familial Cancer Program, Wendy began providing cancer genetic counseling, in addition to her other genetic counseling duties.  In 2010, she transitioned  full time to cancer genetic counseling in the Department of Medicine.  Wendy sees several hundred cancer genetics patients a year, coordinates the institution’s universal screening program for Lynch syndrome, participates in multiple tumor boards and conferences, and takes part in ongoing research projects both at the University of Vermont, as well as collaboratively with other institutions.  Wendy has a number of publications on topics related to general genetics, as well as cancer genetics.  Her most recent publications relate to a study lead by Georgetown University on telephone genetic counseling for hereditary breast and ovarian cancer patients. Wendy has also coordinated a number of retreats for families with BRCA mutations and families with Lynch syndrome.  She was awarded Susan G. Komen Foundation Grants for the BRCA retreats and an NEGC (New England Genetics Consortium) grant for the Lynch retreat.

 

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. 

Genome Generation

Genetic Counseling Note: 

TP53 is a gene located on chromosome 17p that is often mutated, or changed, in tumors.  However, some people are born carrying one mutation in the TP53 gene in all of their cells.  These mutations are called germline mutations, and result in Li-Fraumeni Syndrome (LFS).  People with LFS have a high lifetime risk of developing many types of cancer, often at young ages.  These cancers include tumors of the breast, brain, bone, lung and leukemia, lymphoma, and soft tissue sarcomas, as well as many other cancers.  People with LFS are at risk of developing multiple primary cancers and are radiation-sensitive --- meaning that if exposed to radiation, they are at increased risk to develop cancers in the field of radiation.  Germline TP53 mutations are passed down in families in an autosomal dominant pattern, meaning that a parent with a mutation has a 50% chance of passing the mutation on with each pregnancy.

 

Tell us about yourself.

Casey Longstreet, Founder of GenomeGeneration.com

Casey Longstreet, Founder of GenomeGeneration.com

I am 18 years old and a senior in high school.  I’m right in the middle of the college application process, which is stressful – but I’ve already been accepted to several schools, which is a relief.  I plan to study business and marketing in college, and I also love English and have learned to like Biology and the life sciences.  Another love of mine is dance – I like many types of dance, including: ballet, contemporary, jazz, hip hop, lyrical, and modern.  Dancing was therapeutic for me when Tanner was sick.  I’m very close with my parents, boyfriend, friends and my dog, Daisy

 

Your brother Tanner died of a glioblastoma almost 4 years ago. Tell us about your brother and your relationship with him?

unnamed.jpg

I was super close to Tanner, who was 3 years younger than I am.  We were the ‘power sibling’ team.  He was so goofy, funny and loving and when he was sick he never stopped smiling. We had a connection that only the two of us could really understand. I really miss him. 

 

Tanner was found to carry a TP53 mutation and then you, and the rest of your family, were tested.  What do you remember about having genetic testing?

I was 14 years old when I had genetic testing.  I mainly remember going in for the blood test and Tanner held my hand.  When I found out I carried the TP53 mutation I didn’t want anyone to know at first, and I didn’t tell anyone.

 

What did it feel like to learn that you carry a TP53 mutation? 

I was upset about it.  I didn’t want anyone to know because I was afraid that people would think I was sick and they wouldn’t understand. It was hard to understand why it was happening to us, and why it was happening to Tanner and me and my Dad. 

 

How has it changed your life?

I have >90% chance of developing cancer and that frightened me the most and made me realize how important the screening is.  It has changed my life because I have a lot of screening and tests; but, for the most part, I’m still a regular, healthy teenager with a happy life.  I want people to know that.

 

You started GenomeGeneration.com.  Tell us about it?

Casey gala pic.jpeg

I launched GenomeGeneration.com in August 2015 to spread awareness about hereditary diseases and to encourage others to know their family history. My goal is to help others by using my voice, and my story, to spread this message.

 

What do you want people your age to know about genetic testing?

Genomics and genetic testing are scary-sounding, but they aren’t.  You can have this information and use it, and still have a happy, normal life.  I’d rather know my risks, and be aware. A lot of people in my parents’ generation are not into getting genetic testing, but my generation is more open-minded. 

 

Check out Casey's spotlights over at NBC and Amy Poehler's Smart Girls. Explore her website, genomegeneration.com and stay updated by following on Twitter and Facebook

You can also learn more about Tanner's Project and follow on Twitter.

A Valentine for You, from Cardiovascular Genetic Counselors

Here is what 3 of the top Cardiovascular (CV) Genetic Counselors would like you to know about inherited cardiovascular disease:

Brittney Murray, MS, CGC (1-3) Genetic Counselor Johns Hopkins Hospital @murray_bdye

Brittney Murray, MS, CGC (1-3)

Genetic Counselor

Johns Hopkins Hospital

@murray_bdye

1.  Sudden cardiac death can be the first symptom in families with hereditary cardiovascular conditions.  So, even if you are asymptomatic, if you have a family history of heart disease you should discuss your history with a genetic counselor.

2.  Genetic counseling does not mean that you have to have genetic testing.  A genetic counseling appointment can be used to explore your family history, assess your risk of an inherited cardiac condition, and learn of genetic testing options.

3.  CV genetic testing can be preventative!  If we know you are at increased risk, we can monitor you closely - and often identify risk factors at the first sign of disease.  Family members who are identified earlier often have milder disease, and we may even prevent sudden death.


Amy Sturm (4-8) Genetic Counselor Director of Cardiovascular Genomic Counseling Geisinger Genomic Medicine Institute @AmyCurrySturm

Amy Sturm (4-8)

Genetic Counselor

Director of Cardiovascular Genomic Counseling

Geisinger Genomic Medicine Institute

@AmyCurrySturm

4) More than 1 in every 100 people have a genetic predisposition to an hereditary type of heart disease.

5) Many types of hereditary heart disease are preventable with medication or other types of treatment.

6) Genetic testing can help determine who in your family inherited the predisposition to heart disease, and who did not.

7) Heart disease at a young age, usually considered under age 50, is a red flag for a possible genetic cause.

8) Most genetic risk factors for heart disease do not "skip" generations, even if they’ve appeared to, thus far.  Genetic testing can help figure this out!


Matthew J Thomas, ScM, CGC (9-13) Genetic Counselor Cardiovascular Genetics Program UVA Health System @cvgenetics

Matthew J Thomas, ScM, CGC (9-13)

Genetic Counselor

Cardiovascular Genetics Program

UVA Health System

@cvgenetics

9. A healthy lifestyle, including a balanced diet and regular exercise, are important for a long life; but some people develop heart disease purely based on a genetic change they’ve had since birth.

10. Early diagnosis is key. The earlier genetic heart disease is detected, the greater the chance of preventing serious complications, including sudden cardiac arrest.

11. Genetic testing is a blood or saliva test that is affordable, and covered by many insurance plans.

12. CV genetic testing has the potential to help not only a single patient, but his or her entire family. Finding the genetic cause of one person's heart disease makes it possible for children and other relatives to know whether or not they are at risk.

13. CV genetic counselors work with patients concerned about their risk of developing a serious heart condition or passing their own heart condition to their children.

Trailblazing Genetic Counselors: Episode 5

This is the fifth 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 340 professionals in the field, all in one stream.

Photo Credit: University at Albany

Photo Credit: University at Albany

Karen Greendale, MA, CGC, @KarenGreendale, is a seasoned genetic counselor and was active in the field’s infancy. She received her master’s degree in Behavior Genetics from the University of Colorado in 1977 and was board certified in genetic counseling by the American Board of Medical Genetics in 1982. Greendale was a practicing genetic counselor focusing on reproductive and pediatric genetics at the University of Colorado, the George Washington University Medical Center and the Albany Medical Center.

She is a former President of the National Society of Genetic Counselors (NSGC) and has been a member of its various committees. During the year she was president she chaired a collaborative group known as the Council of Medical Genetics Organizations (COMGO). Greendale has also participated in numerous American College of Medical Genetics (ACMG) committees and special interest groups, and chaired their Quality Assurance SIG for several years. She served on the Institute of Medicine’s Committee on "Genomics and the Public’s Health in the 21st Century" and was a founding editorial board member of the ACMG journal, Genetics in Medicine.

Her involvement with public health genetics/genomics started at the NYS Department of Health in 1988. In her last position there, she was the Director of Cancer Support and Survivorship Initiatives in the Cancer Services Program, focusing on ovarian cancer, cancer genetics and cancer survivorship. Since retiring from the NYS Department of Health in 2012, she has acted as a consultant on projects for the CDC Office of Public Health Genomics, the Familial Hypercholesterolemia Foundation, the Connecticut Department of Public Health, To Life! (a Capital Region breast cancer educational and advocacy group) and HeritX, a forward-thinking inherited cancer prevention research organization focusing on BRCA-related cancers.  A three-time breast cancer survivor with a BRCA mutation, Greendale is passionate about staying involved in this cause.

 

Colleen Caleshu, MS, LCGC, @colleencaleshu, is a Genetic Counselor and Clinical Assistant Professor at Stanford Center for Inherited Cardiovascular Disease.

She is a leader in the cardiovascular genetic counseling field with over 20 peer reviewed publications in the field. She entered the field at a time when there were only ~ 10 cardiovascular genetic counselors in the country. Caleshu leads seven cardiovascular genetic counselors at Stanford Center for Inherited Cardiovascular Disease. Before joining Stanford, Caleshu was a Genetic Counselor and Assistant Clinical Professor at The University of California, San Francisco. She has spoken at various national and international cardiovascular conferences.

Caleshu received the 2016 NSGC Outstanding Volunteer Award. Her exceptional volunteerism includes her work with the ClinGen Cardiovascular Domain Working Group and Sudden Death in the Young (SDY) Case Registry. Within NSGC Caleshu was a co-chair and is current member of the Cardiovascular SIG, where she founded the education subgroup. 

This past year, she was the vice-chair of the Education Committee. Having excellent mentors throughout her career is what inspired her to join the NSGC mentor program herself.

She received her B.S. in biochemistry from The University of British Columbia followed by her  masters in genetic counseling from Johns Hopkins University and the National Human Genome Research Institute.

Kristen Mahoney Shannon, MS, LCGC, is a Senior Genetic Counselor and the Director of Center for Cancer Risk Assessment at Massachusetts General Hospital Cancer Center.

She has been with Massachusetts General Hospital for 20 years. The team of 10 genetic counselors she oversees helps to identify families that may have a hereditary cancer syndrome and, when indicated, provides genetic testing, screening and support. Over the last two decades, Shannon has had many publications in the fields of cancer genetics and cancer genetic counseling. As an educator, she worked as an adjunct instructor and lecturer for the genetic counseling program at Brandeis University and Boston University, respectively.

Shannon is active in multiple committees in NSGC, a member of the NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel, and had a key role in the Massachusetts Genetic Counselors Licensure task force, and for eight years was a part in the Massachusetts Board of Licensure for Genetic Counselors.

She received her B.A. from College of the Holy Cross, followed by her master’s in Human Genetics from Sarah Lawrence College.

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

Hereditary Thyroid Cancer: Part 2

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

 

Hereditary Cancer Syndromes that Involve the Thyroid

1. Multiple Endocrine Neoplasia Type 2 (MEN2)

RET gene (Source: GHR)

RET gene (Source: GHR)

MEN2 is caused by mutations in the RET gene and is separated into three subtypes:

  • MEN2A
    •  Medullary thyroid cancer (70-100% lifetime risk),
    • Pheochromocytoma (benign tumors of the medulla of the adrenal gland via Mayo Clinic
    • Parathyroid gland tumors, that often result in hyperparathyroidism.
    • The MEN2A subtype constitutes approximately 70%-80% of cases of MEN2
  • MEN2B
    • Medullary thyroid cancer, notably more aggressive than in MEN2A
    • Pheochromocytoma 
    • Benign growths of nerve tissue on the tongue, intestine and elsewhere called neuromas or ganglioneuromas
    • The MEN2B subtype accounts for approximately 5% of cases of MEN2
  • Familial Medullary Thyroid Carcinoma (FMTC)
    • Hereditary medullary thyroid cancer is the only feature
    • The FMTC subtype constitutes approximately 10%-20% of cases of MEN2.

MEN2 and Thyroid Findings:

  • Medullary thyroid cancer can develop during childhood or early adulthood and can spread early.
  • Removal of the thyroid is recommended for virtually all individuals with a RET mutation. 
  • The recommended age for thyroid removal surgery is dependent on the specific mutation found in the individual/family and family history.
  • In the most aggressive forms of MEN2, thyroid removal is recommended as soon as possible within the first year of life. 
  • Other types of screening may be recommended after surgery and a consultation with an endocrinologist and genetics expert familiar with MEN2 is recommended.

People with MEN2 usually inherit the condition from a parent.   However, ~5% of individuals with MEN2A, and up to 50% of individuals with MEN2B, are the first in the family to have the condition.  Someone with MEN2 has a 50% chance to pass the condition to each of his/her children.  MEN2 does not skip generations.

 

2. PTEN Hamartoma Tumor Syndrome (PHTS)

PHTS is the parent name for several syndromes caused by mutations in the PTEN gene.  The specific syndrome diagnosed in each family with a PTEN mutation will depend on the clinical findings in that individual/family.  One syndrome associated with PTEN mutations is Cowden syndrome.

PTEN Gene (Source: SyndromesPedia)

PTEN Gene (Source: SyndromesPedia)

Cowden syndrome (CS) is associated with:

  • An increased risk to develop cancer of the breast, endometrium (the inner lining of the uterus), thyroid, kidney, colon and skin (melanoma);

  • Macrocephaly: a larger than average head size;

  • Increased risk for autism spectrum disorder and/or intellectual disability

  • Non-cancerous skin findings including: trichilemmomas, acral keratosis, papillomatous papules and fibromas that generally appear in an individuals 20s or 30s.

Cowden Syndrome and Thyroid Findings:

  • The risk to develop thyroid cancer in individuals with Cowden Syndrome is ~3 - 35% over their lifetime (general population risk = 1 - 2%).
  • Screening for thyroid cancer can be performed in adults and children with Cowden Syndrome using ultrasound and a thorough manual examination of the thyroid by a clinician, to detect any changes or unusual lumps.
  • It was once thought that thyroid nodules and/or goiters were common in individuals with PHTS.  However, these are also common findings in the general population and more research is needed to find out if they are truly linked with PTEN alterations.

People with PHTS usually inherit the condition from a parent.   However, up to 10-50% of individuals with PHTS are the first in the family to have the condition.  Someone with PHTS has a 50% chance to pass the condition to each of his/her children.  PHTS does not skip generations; however the signs and symptoms can be variable individuals in the same family.

3. Familial Adenomatous Polyposis (FAP) and Attenuated Familial Adenomatous Polyposis (AFAP)

APC gene (Source: Genetics 4 Medics)

APC gene (Source: Genetics 4 Medics)

Individuals with classic FAP develop hundreds to thousands of colorectal polyps and have a virtually 100% lifetime risk of colorectal cancer without preventive removal of the colon. 

Individuals with Attenuated FAP (AFAP) develop 10-100 colon polyps and have ~70% lifetime risk to develop colorectal cancer without preventive removal of the colon. 

Other cancers and benign findings can be seen in both conditions.  These include:  

  • Cancers of the colon, stomach, pancreas and thyroid;
  • Non-cancerous abdominal soft-tissue tumors, called desmoid tumors, that tend to regrow in the area in which they develop;
  • Benign pigmented lesions at the back of the eye (retina) called congenital hypertrophy of the retinal pigment epithelium (CHRPE);
  • Tumors of the skull and jaw bone.

FAP/AFAP and Thyroid Findings:

  • The risk to develop thyroid cancer in individuals with FAP/AFAP is ~1 - 12% over their lifetime (general population risk is 1 - 2%).
  • Screening for thyroid cancer in individuals with FAP/AFAP generally begins in the late teens with a thorough examination of the thyroid by a clinician to detect any changes or unusual lumps.  A thyroid ultrasound may also be considered. 

People with FAP or AFAP usually inherit the condition from a parent.   However, up to 25% of individuals with FAP or AFAP are the first in the family to have the condition.  Someone with FAP or AFAP has a 50% chance to pass the condition to each of his/her children.  Familial adenomatous polyposis does not skip generations.

 4. Carney complex, type I

Carney complex is caused by mutations in the PRKAR1A gene.

PRKAR1A gene (Source: nichd.nih.gov)

PRKAR1A gene (Source: nichd.nih.gov)

The findings associated with Carney complex include: 

  • a number of benign tumors and hormone related problems;
  • an increased risk of papillary and follicular thyroid cancers;
  • changes in skin coloring that result in dark brown areas on the skin;
  • noncancerous tumors, called myxomas, that can develop in the skin, breasts, internal organs and in the heart (which can block the flow of blood);
  • tumors in hormone-producing glands, such as the adrenal glands (located on top of each kidney), the thyroid, testes, ovaries and the pituitary gland;
  • adrenal disease (PPNAD) that results too much of the hormone cortisol which can lead to the development of Cushing syndrome. This syndrome causes high blood pressure, abdominal obesity, a round red face, slowed growth in children, fragile skin, fatigue, and other health problems.

Carney complex and Thyroid Findings:

  • Up to 75% of individuals with Carney complex have multiple thyroid nodules, most of which are thyroid follicular adenomas;
  • Thyroid cancer, both papillary and follicular types, can occur although exact lifetime risks have not been determined;
  • Screening for thyroid nodules and cancer can be performed in individuals with Carney complex using ultrasound and a thorough examination of the thyroid by a clinician to detect any changes or unusual lumps.

People with Carney complex usually inherit the condition from a parent.   However, up to 20% of individuals are the first in the family to have the condition.  Someone with Carney complex has a 50% chance to pass the condition to each of his/her children.  Carney complex does not skip generations.

Hereditary Thyroid Cancer: Part 1

Source: Wikipedia

Source: Wikipedia

The bodily system that regulates our metabolism, growth and development, tissue function, sexual function, reproduction, sleep, and mood is called the endocrine system.  Glands that produce hormones and regulate these functions include:

  • Pineal gland
  • Pituitary gland
  • Thyroid
  • Thymus
  • Adrenal glands
  • Pancreas
  • Reproductive glands (ovaries and testes)

This article will focus on one endocrine gland- the thyroid and hereditary cancers that may be involved when an individual(s) develops thyroid cancer. When thyroid cancer or benign thyroid tumors/conditions 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 also aids in interpreting your genetic test results correctly. 

The following list includes risk factors that increase the likelihood of a genetic predisposition.  When any 1 of these risks factors is present in your/your family history, consider a genetic consultation to learn more.

  • Medullary thyroid cancer at any age, even with no other history of cancer;
  • Thyroid cancer (non-medullary) AND one feature of Carney complex (as described in Table 3 of this paper) in the same person;
  • Thyroid cancer (non-medullary) AND two features Cowden (as described in Table 4 of this paper) in the same person;
  • Papillary thyroid cancer (cribriform-morular variant);
  • Anyone with a personal or family history of thyroid cancer in combination with two or more of the following cancers, especially diagnosed before age 50 or multiple cancers are seen in one person:
    • breast cancer, pancreatic cancer, prostate cancer (Gleason score ≥7), melanoma, sarcoma, adrenocortical carcinoma, brain tumors, leukemia, diffuse gastric cancer, colon cancer, endometrial cancer, thyroid cancer, kidney cancer, dermatologic manifestations and/or macrocephaly, hamartomatous polyps of gastrointestinal (GI) tract
  • A known family history of any of the hereditary cancer syndromes discuss in Part 2 of this post. 

Beyond BRCA: TP53 and Li-Fraumeni Syndrome

Genetic Counseling Note: 

TP53 is a gene located on chromosome 17p that is often mutated, or changed, in tumors.  However, some people are born carrying one mutation in the TP53 gene in all of their cells.  These mutations are called germline mutations, and result in Li-Fraumeni Syndrome (LFS).  People with LFS have a high lifetime risk of developing many types of cancer, often at young ages.  These cancers include tumors of the breast, brain, bone, lung and leukemia, lymphoma, and soft tissue sarcomas, as well as many other cancers.  People with LFS are at risk of developing multiple primary cancers and are radiation-sensitive --- meaning that if exposed to radiation, they are at increased risk to develop cancers in the field of radiation.  Germline TP53 mutations are passed down in families in an autosomal dominant pattern, meaning that a parent with a mutation has a 50% chance of passing the mutation on with each pregnancy.

TP53, p53, Li-Fraumeni Syndrome, LFS, pediatric cancers, brain tumors, adrenocortical carcinomas, soft tissue sarcomas, breast cancer

 

Marlo Gottfurcht Longstreet Founder and President of the Tanner Project Foundation, @tanner_project

Marlo Gottfurcht Longstreet Founder and President of the Tanner Project Foundation@tanner_project

Tell us about your son, Tanner

Tanner was the sweetest, funniest kid you could ever meet. He had some issues with speech & language, as well as processing, and was not a big fan of school.  He was the kind of kid that would act out one minute,  but then win Student and Athlete of the Year the next.  He truly charmed the pants off of people.  Believe me, he gave me a run for my money – he wasn’t easy!  But he was magical.  Tanner was very funny, had comedic timing and an appreciation of adult humor.  It wasn’t until after he was sick and died that I realized how many lives he touched. 

 

When was Tanner diagnosed with cancer?

In September 2012 Tanner did not feel well.  He was 10 years old and starting 5th grade and had no appetite, a headache, and was feeling very tired and did not want to leave me.  One day he threw up at school and we took him to the doctor, who thought he had the flu.  They ran some bloodwork and everything came back normal.  After two more days, he still wasn’t feeling better. Our pediatrician just felt that something wasn’t right and suggested we take him to the emergency room.  Once there, they thought Tanner had meningitis, so they ran a routine CT scan of his head before doing a spinal tap. I’ll never forget it, the ER doctor came into the room, shut the door and said we needed to sit down.  They found a mass on Tanner’s brain and two days later he had brain surgery.  He was diagnosed with a glioblastoma.  So, in 2 days we went from the flu to meningitis to a brain tumor. The doctors wanted us to start radiation right away, every day for 6 weeks; however, we decided that we needed to take a step back and collect more information first.

 

How did you learn Tanner carried a p53 mutation?

We had a consult with a neuro-oncologist at Children’s Hospital Los Angeles and, for the first time, we were asked about our family history of cancer.  We told him that Tanner’s paternal grandmother was diagnosed with breast cancer at ~age 32 and died at age 49.  This physician recommended that Tanner have genetic testing and we learned that he carried a mutation in TP53.  We later learned Tanner’s father Greg and our daughter Casey, neither of whom have developed cancer, are also carriers.

 

What made you start the Tanner Project Foundation?

Tanner died 8 months and 8 days after he was diagnosed, and I wanted to keep Tanner’s memory alive.  Everything we’ve done has been done with so much thought and process, with Tanner’s spirit leading the way. 

 

What are the goals of the Tanner Project Foundation?

My Dad and I had talked about the Foundation we’d create while Tanner was still alive, and decided that we wanted to find ways to catch cancer before it becomes cancer.  We wanted to monitor people at high risk to find the red flag before anything bad happens.

Our focus so far has been on cancer – studying an individual case from all aspects, in hopes of better understanding the disease. We like working and thinking outside of the box. We have been working with the J. Craig Venter Institute, Scripps, TGen and Metabolon, to creatively study one case in great depth.  We believe this is the answer to fully understanding and preventing disease.

 

What message would you like to get out to the public about LFS, childhood cancer, genetic testing?

It is so important to know that we can inherit hereditary cancer mutations from men or women.  Many people, including physicians, may not recognize that if a man has a family history of early-onset breast cancer, that may be significant and he should be offered genetic counseling.  These mutations can be passed on to both sons and daughters. 

Knowledge is power.  I know people are scared to have genetic testing – we were too.  But the unknown is scarier.  In our quest to learn as much as we can, my entire family has had our genome sequenced.   There are things you can do if you’re at high risk. We didn’t know the information for Tanner, but we do for Casey.  We don’t want to ever be blindsided again.

Cancer can happen to anyone.  We were a healthy, happy family and life was good. No one is immune to cancer. 

There are many people out there with apersonal and/or family history of cancer who’ve had BRCA testing and tested negative.  Some of those people may carry a TP53 mutation, or another hereditary cancer mutation.  Make sure you’re not just being tested for BRCA, technology has changed a lot over the past 5 years and many people are candidates for entire panels of genes related to hereditary cancers.   There are affordable ways to have genetic testing and counseling.   

 

Check out Tanner's Project on their website and follow their activities Twitter!

Advice for Applying to Genetic Counseling Programs

The field of genetic counseling is expanding rapidly; the number of Certified Genetic Counselors has increased 88% since 2006 (NSGC). Nine out of ten genetic counselors report being satisfied with their jobs (NSGC). The field offers countless different directions in which one can take this career, in a variety of environments.

Knowing these statistics and seeing new genetic breakthroughs daily has many students interested in joining the field. To become a Certified Genetic Counselor, students must graduate from an accredited program, (check out the list). There are not nearly enough programs to meet the ever increasing demand of genetic counselors. However, this is changing with many schools adding new genetic counseling programs such as The University of ConnecticutKeck Graduate Institute (KGI), Augustana University, Indiana State University, University of Central Florida and University of South Florida, just to name a few.

Due to the limited number of programs and increasing interest in the field, acceptance rates for genetic counseling graduate programs are less than 8% (NSGC, via UCONN). This number is intimidating; however, it is further motivation for students to strengthen their resumes and applicants. When applying to graduate programs in genetic counseling, applicants must highlight and demonstrate their knowledge, skills and interest in the field. But what is the best way to do so? We asked fellow genetic counselors in the community to offer their advice, including directors of graduate programs!

We also suggest reading our Trailblazing Genetic Counselors blog series to learn about the leaders in our field. Check out the LinkedIn profiles of the genetic counselors below to read about their background and follow them on Twitter (click their name after their quote) to stay updated on news in the field of genetic counseling. Here's our Genetic Counseling Twitter list of over 340 professionals in the field who are also active on Twitter. 

 

Candid Advice from Program Directors

Don’t be afraid to take a year or two off after college to work and gain some experience.
Be yourself during the interview – you are who you are and that’s who the program is most interested in getting to know.
Write your personal statement from a personal perspective. The reader is most interested in getting to know you as a person. How did you feel? What did you learn about yourself? Have family and friends read it to be sure it sounds like YOU.
Pick recommendations that are appropriate to the application and make sure they are from professors, service areas etc that really know them.
Their essay is how they can make themselves shine and let the schools know who they are and why they should meet them.
Be sure to spend a lot of effort on the personal statement. A poorly written personal statement reflects very badly on the applicant.
I tell applicants that they have one chance to have their applications reviewed. They should spend time on their packages. The applications should be read and re-read for any errors, typos etc.

 

Advice from Genetic Counselors

 

"Read some publications of the program’s  faculty.  See where graduates have obtained jobs." ~Robin Schwartz, Assistant Professor and Hereditary Genetic Counselor at UCONN Health

 

 

 

 

 

 

"First, shadow genetic counselors in different disciplines. Second, volunteer in a counseling setting. Third, have a genetic counselor review your application essay" ~Scott Weissman, Founder of Chicago Genetic Consultants, LLC

 

 

 

 

"Future genetic counselors should read voraciously! Everything about clinical genetics they can find: articles, books, blogs, patient stories! Do whatever you have to do to know that genetic counseling is what you want to do. Shadowing is helpful, but you don't have to shadow every counselor in every specialty. I shadowed two days before graduate school." ~Brittany Gancarz, Prenatal Genetic Counselor at UCONN Health

 

 

 

"If invited to interview try to view fellow interviewees as future colleagues not competitors. Be you and BREATHE!" ~Brianne Kirkpatrick, Founder/CEO/President of WatershedDNA

 

 

 

 

 

"Spend time volunteering with children and adults in the disability community." ~Carrie Haverty, Genetic Counselor and Clinical Product Director at Counsyl.

 

 

 

 

 

"Know why a genetic counseling career is right fit for you and be able to explain that. Test drive related work for a while to make sure good fit." ~Colleen Caleshu, Cardiovascular Genetic Counselor at Stanford Center for Inherited Cardiovascular Disease.

 

 

 

 

"Take as much time as you need for a truly solid application, especially on counselling experience. I built mine up over two years." ~Leslie Ordal, Clinical Research Manager, Medical Writer, and Genetic Counselor

 

 

 

 

 

"Focus on what makes your experience unique. Most applicants have shadowed Genetic Counselors- what makes you stand out?" ~Andria Besser, Genetic Counselor at NYU Langone Medical Center, Counsyl, and the Center for Rare Jewish Genetic Disorders. 

 

 

 

"Read recent lit for current state of field/opportunities/essay ideas. Historical papers can give outdated sense of job focus. In other words, don't write your essay about non-directiveness (I did!! And I cringe about it now!!)" ~Alexis Carere, Genetic Counselor & Post-doctoral Fellow in Epidemiology at McMaster University

 

 

Matt's LinkedIn Profile

Matt's LinkedIn Profile

 

 

"Go to every interview you are offered. I almost declined an interview to a program I ended up attending." ~Matt Tschirgi, Medical Science Liaison at Progenity, Inc. and Founder and Managing Director at Genetix Consulting, LLC

 

 

 

 

"Learn about program directors. Can give sense of program... Research focus? Still seeing patients? Specialty? Publications?" ~Katie Lang, Coordinator of Hereditary Cancer Program at Northside Hospital Cancer Institute

 

 

 

 

 

"Shadow supervisors and directors of the programs you are interested in and make a good impression before you even apply! Consider the program itself, not just its location and cost. There are some great schools hidden right under your nose!" ~Anna Victorine, Genetic Counselor at Provenance Healthcare

Danielle's LinkedIn Profile