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

 

 

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"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.

 

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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.

 

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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?

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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

 

 

 

 

 

"Shadow genetic counselors in several specialties and find out what they like best/least about their position."~Danielle Bonadies, Director of Cancer Genetics at My Gene Counsel

 

 

 

 

 

 

"Make sure your application includes your relevant experience. Were you an RA, OA, or counselor in college? A science tutor? Did you do social media for a school club, or have public speaking experience? How can that make you a better genetic counselor?" ~Ellen Matloff, President/CEO of My Gene Counsel

 

 

 

Genetic counselors, do you have advice to add? Tweet us @mygenecounsel so we can include your words of wisdom!

Trailblazing Genetic Counselors: Episode 4

This is the fourth 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.

Amy Curry Sturm, MS, LGC, @AmyCurrySturm, is a Genetic Counselor and Associate Professor at Ohio State. 

Sturm has spent over a decade with Ohio State becoming an expert in personalized genomics, cancer genetics, pediatrics, preconception genetic counseling and especially cardiovascular genetics, as she is currently the NSGC Cardiovascular Genetics Expert and co-founded the Cardiovascular Genetics Special Interest Group. A combination of her experience gained and patients' impact from Ohio State Wexner Medical Center's Cardiovascular Genetic and Genomic Medicine Program have driven her to volunteering with The FH Foundation (familial hypercholesterolemia) and SADS Foundation (sudden arrhythmia death syndromes) where she focuses on advocacy work, research, and medical education programs.

Her passion is preventive genetic and genomic medicine, and research evaluating the effectiveness of different genetic counseling approaches. She has also served as a Director-At-Large for NSGC along with many other committees, which earned her the 2011 NSGC Outstanding Volunteer Award. Other honors and awards include Columbus Business First's Forty Under 40, The Heart Hope Foundation Award, and the Diane Baker Alumni Award. Her list of publications includes articles in the Journal of Medical Genetics, Community Genetics, Journal of Genetic Counseling, Pharmacogenomics and New England Journal of Medicine.

She graduated from Baldwin-Wallace College with a B.S. in biology, followed by The Ohio State University and University of Michigan with a M.S in Molecular Pathology and Human/Medical Genetics, respectively.

 

Carrie Blout, MS, LGC, @CarrieBlout, is a Senior Genetic Counselor and Project Manager at Brigham and Women’s Hospital in the Genomes2People translational research group.

In these roles, she manages the MedSeq Project, a randomized control trial exploring the outcomes of whole genome sequencing in both a healthy population and a population with cardiomyopathy.

Before joining Brigham and Women’s Hospital, Blout worked at Johns Hopkins University in the Greenberg Center for Skeletal Dysplasias and the McKusick-Nathans Institute of Genetic Medicine. She provided genetic counseling for both pediatric and adult patients and their families through the Multidisciplinary Cleft Clinic. Her other role at Johns Hopkins was as a study coordinator for enrolling patients with Down syndrome and Achondroplasia in clinical drug trials. She also had a general/pediatric genetic counseling position at Nationwide Children’s Hospital, followed by a pediatric and newborn screening role at the University of Maryland Medical Center & Maryland Department of Health and Mental Hygiene.

Blout has served on numerous committees in the National Society of Genetic Counselors (NSGC) including as the Chair of the Public Policy Committee, Webinar Subcommittee, and Pediatric and Clinical Genetics SIG and served on the Board of Directors as a Director-At-Large. She graduated from Dickinson College and the University of Pittsburgh with a B.S. degree in biology and a genetic counseling M.S. degree, respectively.

 

Leslie Bucheit, MS, CGC, @gcleslieb, is a medical science liaison in the field of oncology at Counsyl.

Bucheit is passionate about increasing the accessibility of genetic screening to oncology providers. She contributes to efforts related to Inherited Cancer Screening products as part of the Counsyl team. Previous to her role at Counsyl, she served as a genetic counselor at Baptist Health System where she provided clinical services for hereditary cancer syndromes. During her time, she initiated several program and career development initiatives including the development and coordination of high risk and VUS (variants of uncertain significance) follow-up programs. As an Oncology Genetic Specialist at Ambry Genetics, Bucheit worked collaboratively with account managers to support clients. There she was also a clinical resource to clients implementing hereditary cancer genetic testing. After working for Ambry Genetics, she returned to Baptist Health System’s as a Manager of Genetic Counseling.

She is an energetic volunteer leader in the genetics, genetic counseling and oncology communities. On the state level she is the social media manager of the Texas Society of Genetic Counselors; which is active in pursuit of licensure for genetic counselors in Texas. On the national level, she has worked for NSGC as a member, co-chair, and chair of various boards including the membership committee, AEC Orientation, Professional Status Survey, Cultural Competency Subcommittee, and the Education committee. Bucheit also was the founding chair of the SIG Engagement Subcommittee. She received the honor of the NSGC New Leader Award in 2015.

Bucheit graduated from University of Dayton and the University of Cincinnati College of Medicine with a B.S. degree in psychology and a medical genetics M.S. degree, respectively.

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

Science Gift Guide

Inspire a kid in your life to explore the world through science by giving them a science themed gift. There are endless gifts to pick from! Science toys teach skills in fields like engineering, chemistry, biology, astronomy, physics, mathematics, anatomy, genetics, and robotics. 

Check out our gift guide below for places to find inspiring and fun science presents. Some of which were under our christmas trees this year! Did you give/recieve any awesome gifts this year to add to our list? Tweet us at @mygenecounsel with #sciencegiftguide. 


Princess Awesome

A company that offers a new way to be girly with dresses that have designs like dinosaurs, robots, atoms, and rocket ships. Princess Awesome is "a company founded by women - mothers - who want girls to be able to express themselves through their clothing. We are committed to making clothes that girls want to wear, and that parents want to see on their daughters." For more clothing that empowers check out Svaha and buddingSTEM.

Insect Lore Live Cup of Caterpillars

Our CEO/President, Ellen Matloff's pick is live caterpillars. This package includes "five live caterpillars and all of the nutritious food they need to develop into beautiful Painted Lady Butterflies. Observe the miraculous butterfly life cycle up close in your own home or classroom. The entire project takes approximately three weeks." You can also release live ladybugs in your garden! A tip, don’t ever bring them into your house.  And release at least 25 feet from your house in a garden setting, preferably with tomato plants. Best if you live in a warm-climate if you are giving around the holiday season. 

Rachel Ignotofsky's Books

Rosalind Franklin Excerpt from Women In Science

Rosalind Franklin Excerpt from Women In Science

Rachel Ignotofsky wrote the inspiring and beautiful Women In Science: 50 Fearless Pioneers Who Changed The World. This New York Times best selling book "highlights the contributions of fifty notable women to the fields of science, technology, engineering, and mathematics (STEM) from the ancient to the modern world." Available for pre-order, I Love Science: A Journal For Self-Discovery And Big Ideas is a guided journal for young women and girls based on the book, great as a companion.  

GoldieBloxs

"Construction toy + storybook set featuring the world's first girl engineer character, Goldie Blox! In this kit, Goldie builds a spinning machine to help her dog, Nacho, chase his tail. Kids can help Goldie build a belt drive machine to spin everybody at once! Introduces the real-life STEM concept of a belt drive."

GoldieBloxs toys "teach a variety of engineering and problem solving skills, such as: wheels and axles, hinges and levers, pulleys, gears, animation and more. In the future, we’ll be adding motors, circuits and even coding!"

Geek Wrapped

Robotics Smart Machines "gives children a simple, fun, and customizable introduction to robotics that lets them build eight amazing motorized machines. It's an awesome introduction to science, engineering, robotics, and electronics - all at the same time!"

Scientific's Direct 

The Astroscan Millennium Telescope is a portable and powerful tool to explore the world of astronomy with razor sharp views of our universe. It even includes an scientific star and planet locator. "Using the correct eyepiece, with time and patience, you’ll soon marvel at the majesty of the planets: find Saturn with its magestic rings and Titan - its largest moon, view Mars with its white polar ice cap and orange deserts, discover Jupiter and its four largest moons: lo, Callisto, Europa, and Ganymede, as well as following Venus, the most luminous of the planets."

Osmo Coding Game

"Osmo Coding teaches problem solving and logic skills, it helps kids succeed in an increasingly digital world. With Osmo, coding is approachable, creative, and fun. Just snap physical blocks together to create sequences of commands and easily learn computer programming fundamentals. Works with iPad Pro 9.7 inch, all iPad Mini, all iPad Air, all iPad 2 & up."

Fat Brain Toys

One of many science kits available on Fat Brain Toys, My First Mind Blowing Science, provides 11 experiments: "erupt a color changing volcano, mix up magic ooze with a mind of its own, mix safe chemicals and watch colors change before your eyes, play with sand that never gets wet, set up a weather station, explore acids and bases, make clouds and icebergs, create crystals, and watch powders dance."

Additions from Twitter Users!

Pink and Blue: Colors of Hereditary Cancer Chicago Premiere

Group.jpg

On December 1st, I had the pleasure of attending the Chicago premiere of the Pink & Blue Movie with our advocacy partners Georgia Hurst, @ShewithLynch, and Amy Byer Shainman, @BRCAresponder.  I’ve worked closely with both Georgia and Amy for several years on our tweetchat series #GenCSM, amongst other projects in the hereditary cancer space, but this was the first time I had the pleasure of meeting them in person!

Amy Byer Shainman is one of the producers of  “Pink & Blue: Colors of Hereditary Cancer”, and this event was hosted by Georgia at the beautiful Kerasotes ShowPlace ICON Theatre at The Roosevelt Collection, and sponsored by Pathway Genomics.  This film artfully hit home many of the issues surrounding hereditary cancer, including: the impact of cancer and genetic testing on the entire family; decision-making around surveillance, surgery +/- reconstruction; and the lack of attention, support and sensitivity around male breast cancer.  

Over 75 people attended the premiere and stayed for an engaging panel discussion that included genetic counselor Scott Weissman (chicagogenetics.com, @chicagogenetics) and plastic/reconstructive surgeon Daniel Liu@danielzliu, in addition to producer Amy Byer Shainman, Georgia Hurst and myself. The audience had insightful questions and comments that kept the conversation humming for 30 minutes after the film.

This film is now available for purchase and viewing through iTunes, and is a great educational tool for patients, students and clinicians.

TweetChat: The Gene with Siddhartha Mukherjee

Photo Credit: New York Times

Photo Credit: New York Times

On Monday afternoon we held a tweetchat, #GenCSM, with our amazing co-hosts Georgia Hurst and Amy Byer Shainman and special guest Siddhartha Mukherjee, MD. Sid is the Pulitzer Prize-winning author of The Emperor of All Maladies: A Biography of Cancer, and his most recent book, The Gene, has been highlighted by Bill Gates and was the topic of much of our discussion. Here are highlights from our exciting and thought-provoking chat! You can also view the full transcript here.

...then the conversation opened up to questions from other participants. 

Have a question or comment you didn’t get to contribute? Please post in the comments below. 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, @DrSidMukherjee

Trailblazing Genetic Counselors: Episode 3

Genetic counselors making an impact in the field.

Beyond BRCA: Hereditary Diffuse Gastric Cancer Syndrome and CDH1 Mutations

Genetic Counseling Note:

People who have a mutation in one of their CDH1 genes have a syndrome called Hereditary Diffuse Gastric Cancer (HDGC). This syndrome increases the risk of developing stomach cancer in men and women, lobular breast cancer in women, and may be related to other types of cancer as well. People who carry a CDH1 gene mutation have options for screening and prevention. However, screening for gastric cancer is not very effective. It is hard to detect the cancer, even at a late stage, when it is not curable. Recommendations for individuals with a CDH1 mutation include considering having their stomach removed preventatively in their 20-30s.  Female CDH1 carriers are also at increased risk to develop lobular breast cancer and screening for breast cancer is much more effective.

Welcome Johanna, we are so glad to have you back for a third installment of your journey.  In your first interview with us, you had recently learned that you carried the CDH1 mutation that had been found in your father in 2007. The last time we talked (Episode 10 of Cancer Bytes Podcastyou were 26 years old, nine months out from having your stomach removed to reduce your risk of stomach cancer, and were very doing very well. You are now 32 and almost 6 years out from your surgery. Fill us in – how are you now?

Things have been good.  I am extremely grateful that I had a successful (prophylactic gastric) surgery with no surgical complications and a relatively quick recovery.  The fact that I don’t have a stomach has become such a part of my life that it is hard for me to remember what life was like with a stomach.  For example, I sometimes say I can eat whatever I want, which is really not true.  There are still foods that I have trouble with, but these things have become so routine to me that it feels normal.  I have a pretty healthy and active life.   

My Dad and me at one of our last visits together in NYC before he died in 2009

My Dad and me at one of our last visits together in NYC before he died in 2009

When I look back at the time surrounding my gastrectomy and recovery time, it was such an intense time period.  I was totally focused on the cancer risks and the steps I need to take for cancer prevention, and rightfully so - I watched what my father experienced with his diagnosis.  All of my energy was directed toward getting through the surgery and recovery.

However, now almost six years out, I am managing the long-term impacts of that surgery.  I am anemic (low iron levels) and have nutritional and vitamin deficiencies.  I have to monitor my bone health.  And I’m only 32.  I don’t think about these things every day, but they do weigh on me.  I will never be carefree about my health - there will always be something to worry about.  It’s a bigger deal than I thought it would be.  

 

There have been few surprises along the way, tell us about those. 

The first was the pathology after having my stomach removed.  Many of my family members’ who had the surgery before me had pre-cancers identified in the tissue of their stomach after having ‘preventative’ surgeries.  In some ways I think I was expecting to learn the same.  However, two weeks after my surgery when I got my pathology back, it revealed that I had 32 areas of pre-cancers – much more than any of us had anticipated. When I’m dealing with the side effects from this surgery this is a helpful reminder that I made the right decision.  It certainly saved my life.

A walk that Tom and I took the day I was diagnosed with Lobular Breast Cancer (Good Friday, April 3, 2015)

A walk that Tom and I took the day I was diagnosed with Lobular Breast Cancer (Good Friday, April 3, 2015)

The second surprise was that I was diagnosed with breast cancer at age 31, just six months after getting married.  My cancer diagnosis so soon into our marriage certainly changed our relationship, and we’ve become stronger for it.  But never the less, it was a challenging time and has changed us both.   My original plan was to begin breast screening at age 35 because of the increased risk for breast cancer associated with a CDH1 mutation.  However, after a conversation with my clinician, we decided to begin at age 30 (which has since become the recommended age to begin screening for female CDH1 carriers).  If we hadn’t made that decision to start screening early, my breast cancer would have been much more advanced by the time it was detected.  My breast cancer was stage 1 and I chose to have a bilateral mastectomy with reconstruction.  

 

You’ve had two major surgeries: a gastrectomy and a bilateral mastectomy. How did they compare?  

Tom and me in the hospital on the day of my mastectomy

Tom and me in the hospital on the day of my mastectomy

I’ve actually thought quite a lot about this and I think the answer will surprise you.  I found the bilateral mastectomy to be harder, both physically and emotionally.   

When I had my gastrectomy, the hospitalization period was longer, but after about one week the pain was pretty much gone.  I was able to go back to the gym and return to many of my normal physically activities within a month.  The biggest challenge from that point on was learning how to eat again.

Tom and me at his graduation from Medical School, May 2015, 2 weeks after my mastectomy

Tom and me at his graduation from Medical School, May 2015, 2 weeks after my mastectomy

After my mastectomy, though, the physical pain lasted much longer and I had difficulty doing daily activities independently for two to three months.   Any movement that involved my upper body was difficult and painful.  I had trouble turning doorknobs, brushing my own hair, driving my car, and sleeping.  The emotional impact from this surgery was also greater.  It has impacted my sexuality and my self-image.   When I have clothes on, I think I look pretty good.  But when I’m home looking at myself in the mirror, I see my body is scarred.  It is a constant reminder of two very difficult times in my life.  

 

In your first interview, you discussed your biggest concern after learning you carry this mutation.  It wasn’t for yourself, but what it will mean for your future children.  How has that conversation evolved over the past years?

Tom and me with the PGD DNA kit from Genesis Genetics lab in Michigan

Tom and me with the PGD DNA kit from Genesis Genetics lab in Michigan

Yes, it’s tough.  Really tough.  I have always planned to have children.  Now, family planning is much more complicated.  As part of my breast cancer treatment plan I am taking a medication, tamoxifen, for at least 5 years, and I can’t become pregnant while taking the drug due to its possible toxicity to a fetus.  Pregnancy after gastrectomy can also be complicated, mostly from the nutritional point of view.  It is definitely possible, just complicated.  There is also a 50% chance of passing on this mutation on if my husband and I have children naturally.  We’ve learned a lot about a procedure called preimplantation genetic diagnosis (PGD) that is used with in vitro fertilization to create a fertilized embryo and test it for the CDH1 mutation before it is implanted.  We feel very fortunate to have this option, and hope to utilize if/when we are able to have children.  Although, sometimes I wonder if my body has already been though too much.  Could it handle a pregnancy?  Do I have the stamina?   It is more than frustrating to see the idea of having children and building a family turn into a dream that may or may not happen.  

 

What advice do you have for others?

My Mom and me doing the "HOPE" painting October 2016

My Mom and me doing the "HOPE" painting October 2016

When I’m faced with a challenging situation, I try to remember that it is temporary and that time will likely make it better.  For example, every once in a while I will make a mistake and eat something I shouldn’t or eat too much.  I’ve only “over eaten” a handful of times in the past 6 years, but I can remember each time vividly.  I feel so extremely full I have to spit up or throw up, and it’s painful.  I can literally feel the food in my throat.  But if I give myself time, even just 20 or 30 minutes, I know it will pass.  These times can be scary, too, because you’re just not sure what is going to happen and how long it will last.  Over time, I’ve learned more about my new body and urge others to give themselves time to understand their new bodies as well.  I like the mantra “this too shall pass” – it helps me get through the tough times.

My Dad and me at Relay for Life

My Dad and me at Relay for Life

I also encourage everyone with a CDH1 mutation to connect with others.  Sometimes your clinician can help you do this within your own community and there are so many ways to find others on social media.  Connecting with others who understand what you are going through is extraordinary.   CDH1 carriers are often faced with complex decisions at a young age. It’s a lot to handle and can feel isolating and scary.  However, when you do connect with others, remember that no one person’s experience is exactly like yours.  There are certainly some commonalities, but remember that your journey through decisions, surgery and recovery will be your own and unique in many ways.   In addition, you need to rely on your support system – your family, friends and medical providers.  Therapy can also be very helpful to clarify your thoughts and decisions.  It is a journey and no one can do it alone.  

 

Resources:

Parts of Johanna’s decision to have a gastrectomy had been documented in the film “My Decision” available on Netflix.

Johanna’s Aunt is the founder of No Stomach For Cancer to support research and unite patients.  More information about the organization a Johanna’s family’s story can be found here.