Genetic Testing

Angelina's Impact: Genetic Counselors Share

It's been five years since Angelina Jolie announced to the world she carries a BRCA1 mutation and had a prophylactic double mastectomy to lower her risks of developing breast cancer. Below genetic counselors reflect on the impact she has made by sharing her story and starting widespread conversation about hereditary cancer and prevention.

Angelina Jolie’s disclosure of her BRCA1 mutation and subsequent risk reducing surgeries launched a thoughtful national discussion about genetic counseling and testing that no public service announcement could have accomplished. As a result, many women who otherwise might not have pursued testing did so, and for those who tested positive, the information may have been lifesaving. The reaction to Jolie’s announcement in combination with the Supreme Court’s holding against gene patenting and the subsequent drop in BRCA testing costs have contributed to a provocative debate about whether the time is right to offer population screening for hereditary breast/ovarian cancer.
— Beth N. Peshkin, MS, CGC, Professor of Oncology, Georgetown Lombardi Comprehensive Cancer Center
Angelina Jolie’s disclosure of her BRCA+ status seems to have increased awareness of BRCA-related breast and ovarian cancer specifically and of the availability of genetic testing for hereditary cancer susceptibility in general. The media coverage of her story led to an increase in self-referred patients to our cancer genetic counseling clinic, some citing her story specifically. Ms. Jolie’s disclosure of her medical management decisions after her positive test result also increased awareness of prophylactic surgery options, followed by strong reactions from some patients: “If I were BRCA+, I would definitely/never do what Angelia Jolie did.”
— Meagan Farmer, MS, CGC Cancer Genetic Counseling Director, UAB Department of Genetics
Angelina Jolie’s disclosure of her BRCA+ status has provided a reference frame and initiated a discussion about cancer genetic testing and prevention in a way that hadn’t been done previously. Her candid sharing in the mainstream media allowed for a glimpse into the complexity of addressing hereditary cancer risk and put genetic counseling in the spotlight. I think genetic counselors universally agree with her: “knowledge is power.”
— Leigha Senter-Jamieson, MS, LGC, Associate Professor, Clinical, The Ohio State University
Angelina Jolie’s disclosure of her BRCA status helped to revive the very important conversation between patients and primary care providers regarding family history. Subsequently, a larger volume of patients and providers are referring to cancer genetic counselors who are experts in the areas of discussing appropriate genetic testing options and the risks and management associated with high risk hereditary cancer syndromes. Ms. Jolie’s willingness to speak openly on this topic has given strength to individuals with a personal and/or family history of cancer to seek out information regarding genetic counseling and testing and we hope that these conversations continue in the future.
— Marjan Champine, MS, CGC, Clinical Lead Genetic Counselor, Huntsman Cancer Institute, Salt Lake City, UT
Angelina Jolie’s editorial sparked an important nationwide conversation about hereditary cancers. Fuel was added just a few weeks later when The Supreme Court ruled to overturn patents on the BRCA genes. The combined news attention of these events turned the BRCA genes into household names and drove the demand for genetic counseling and testing skyward. As the options for consumers to pursue genetic testing continue to grow, the field of genetic counseling is transforming to meet these needs. New ways to access critical genetic information are now available through telemedicine and digital genetic counseling tools.
— Danielle Bonadies, MS, CGC, Director of Cancer Genetics, My Gene Counsel, @dcBonadies

 

 

Photo Credit: Foreign and Commonwealth Office via Flickr

Angelina's Impact: Advocates Share

It's been five years since Angelina Jolie announced to the world she carries a BRCA1 mutation and had a prophylactic double mastectomy to lower her risks of developing breast cancer. Below advocates reflect on the impact she has made by sharing her story and starting widespread conversation about hereditary cancer and prevention.

Angelina’s efforts have done a great deal to raise awareness for genetic testing. As an advocate for those with hereditary cancer syndromes, I see the negative effects of genetic testing without certified genetic counseling every single day. “Knowledge is only power” when people truly understand their risks and have the resources to take action — unfortunately for many people, this is simply not case.
— Georgia M. Hurst @SheWithLynch ihavelynchsyndrome.com (501c3)
Prevention is priceless. In Angelina Jolie’s very own words, “The beautiful thing about such moments in life is that there is so much clarity. You know what you live for and what matters. It is polarizing, and it is peaceful.” #geneticcounseling #hereditarycancer #genetictesting #savinglives #makingAdifference
— Lisa M Guzzardi @LGuzzardiM https://www.facebook.com/groups/420494918068983/
I am grateful that Angelina Jolie had the bravery to share her story and start a discussion with the world. Three years later and her impact is still being felt in regards to genetic testing and prophylactic surgeries. Kudos to her.
— Karen Lazarovitz @Karenbrcamtl www.beautyonmyterms.com Instagram: @karenlazarovitz_brca
Ms. Jolie’s candid disclosure around her genetic testing results and her personal decision to make proactive choices based on those results, brought the subject of genetic testing into the limelight and triggered important dialogue around education, access, privacy and applicability of genetic screening.
— Stacey Tinianov @coffeemommy http://www.linkedin.com/in/staceytinianov
Angelina Jolie’s disclosure ignited worldwide media attention with the primary focus of the media being on her mastectomy and her particular gene mutation, BRCA. The “missed” message from Jolie’s disclosure continues to be my biggest platform in my advocacy efforts: Knowledge from genetic testing is only useful if an individual has had an accurate cancer risk assessment, result interpretation and receives the correct healthcare recommendations. The most qualified person to provide that knowledge is a certified genetic counselor.
— Amy Byer Shainman @BRCAresponder http://thebrcaresponder.blogspot.com Hereditary Cancer/BRCA Advocate Executive Producer Pink & Blue: Colors of Hereditary Cancer

Photo Credit: Foreign and Commonwealth Office via Flickr

Call for Cases: Errors in Genetic Test Ordering and Interpretation

We are collecting genetic counseling cases that highlight errors in ordering, counseling, and/or interpretation of genetic testing for peer-reviewed publication.  We are particularly interested in receiving cases from lab-based genetic counselors. 

Oprah Thinks You Should Buy a Genetic Testing Kit for Christmas … But What Does the Genetic Counselor Say?

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This is a guest blog post written by genetic counselor Brianne Kirkpatrick, MS, LCGC, who specializes in DTC and ancestry counseling. 


1.  You know that ‘Terms and Conditions’ section that we all check off without reading?  Think twice before doing that if your DNA is involved!

You may be giving rights to your DNA away in a Direct-to-Consumer (DTC) genetic test. The fine print you agree to in a Terms of Service agreement describes what may be done with your DNA, including the policies on selling data, retaining biological DNA samples over time, and sharing information with law enforcement. The terms differ from one company to the next and you should review them before you buy

2.  Surprise! You may unearth information about your family that is unwelcome.

Every day we hear new stories of people discovering relatives they didn’t know they had after taking a home DNA test.  Some consumers sign up to learn ethnicity “pie chart” results and opted in for the company’s ‘family member matching’ feature without realizing what lies ahead. DNA evidence can reveal that a relative was adopted (in or out of the family), conceived by a donor egg or sperm, or that the person sitting next to you at Thanksgiving is not your biological relative.  Sometimes the news is welcome, and sometimes not-so-much. Support groups are popping up online for those bracing from the aftershocks of a surprise discovery after DNA testing

3.  No, DTC testing is not a substitute for medical testing.

The tool-box of genetic tests available for understanding medical risks is large, and it’s full of interesting tools. DTC test options are like a set of screwdrivers in the tool-box -- they have their place, and each is useful in certain situations. But you can’t rely on a set of screwdrivers if you want to build a fence, change a tire, or a nail a picture frame to the wall.

If you want genetic testing for carrier testing, before you have children, DTC options exist but give limited results. Example - 23andMe testing: It covers about 40 conditions and uses only one technology. Companies in the clinical testing market, like Counsyl and Sema4, provide tests that screen for hundreds of recessive conditions, and their tests often involve multiple genetic testing technologies to give the most comprehensive results.

Understanding the difference between what you’re getting from a DTC test vs. medical-grade testing can be tricky. This is where a professional, like a certified genetic counselor, can be critical. If you want carrier testing, have a personal or family history of a genetic condition or disease, or need to solve a medical issue, your best bet is to speak to a certified genetic counselor first.

I’ve seen people comment that a DTC test is much less expensive than going to see a genetic counselor.  However buyer beware, there are many tests – both direct-to-consumer and medical–grade.  Be sure to get advice about which one is appropriate for you and is actually assessing the risks you think it is. 

4.  But, yes, DTC testing can provide critical medical information.

Remember I wrote that DTC tests are like screwdrivers? Well, let’s not forget that screwdrivers can be really useful, easy to access, and also the right tool for the job! It is possible to get some valuable medical information from DTC tests.  People have reported learning about medical conditions that they otherwise would not have known about had it not been for DTC testing

5.  Your DTC test may provide your raw genetic data file

What in the world is raw data? It’s a huge computer file that contains the digital readout of the DNA results created from the spit you send in for DTC testing.  Many DTC companies will allow you to download your raw data once you’ve had DTC testing.  You will then need a computer tool to analyze it.

Some analyzation tools are available for genealogy purposes only, some are for health, and some have a bit of an overlap (often unintentionally). None of them are regulated, or guaranteed to be “working” properly or give you reliable information, so users beware and be wise.

You need to know that the raw data from DTC testing is flawed. One abstract came out earlier in 2017 about the staggering false positive rate of findings that show up in raw data files. The algorithms behind the data are constantly changing and updating.  So what the data tell you today may not be the same as what it tells you next year. This doesn’t mean that all of the data within the file are incorrect, but you should know they may be.  If you plan to use these data for medical purposes, you should speak to a certified genetic counselor who specializes in this area.  It is likely that a new DNA sample will need to be taken and the test repeated in a clinical laboratory.  It is possible that your health insurance will cover these services and your genetic counselor can help make this happen. 

6.  Think before you Gift.

Sometimes a gift you expect to be a smash hit turns into a big flop. A DNA test is not exempt, but the consequences may be more serious than buying those footy pajamas. I know because I’ve been responsible for a Great Holiday Gift Flop - giving DNA test kits to my unsuspecting parents who were confused, shocked, and not entirely tickled by my gift.  From that experience, I learned that gifting a DNA test out of the blue is not guaranteed to be a good idea.   Know your DTC test AND your gift recipient before you stick this box under the tree or menorah.


Brianne Kirkpatrick, MS, LCGC is a genetic counselor and DNA consultant through Watershed DNA, a private practice focused on direct-to-consumer testing that she started in 2016. You can find her on Twitter and Facebook, or visit her website at www.watershedDNA.com.

VUS Reclassified to "Suspected Deleterious": When Genetic Counseling Updates Become Life-Saving

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    @ L2653PAndMe

Mary Ellen, @L2653PAndMe

Mary Ellen always knew that her family history included cancer.  Her mom was diagnosed with breast cancer in her fifties and died in her sixties.  Early-onset breast cancer, prostate cancer, and possible ovarian cancers were seen in aunts, uncles, and cousins.  So, it was not surprising that Mary Ellen’s sister was referred for genetic counseling and testing by her gynecologist in 2008 based on this family history.  Genetic testing revealed that her sister carried a variant of uncertain significance (VUS) in the BRCA2 gene: basically, a murky result that may or may not have been responsible for the range of cancers observed in the family.  The gynecologist didn’t press the family to gather more family history information or to explore this finding further, so it was back to life as usual – until, 4 years later, when that VUS was reclassified as ‘suspected deleterious’.

Mary Ellen’s sister immediately sprang into action and saw a genetic counselor. In addition to learning that the BRCA2 variant she carried was a true mutation, she also learned that she, and other unaffected family members who carried this variant, had options to reduce their risks of ever developing cancer.  “Believe it or not, we didn’t even know that prophylactic surgery would be appropriate for us,” explained Mary Ellen.  

Mary Ellen was the next to leap into action.  She saw a genetic counselor, had testing, and opted to have her ovaries and fallopian tubes removed the next month.  “I was healthy, 56 years old, and my vaginal ultrasound was normal.  This was a preventive procedure.”  Or so she thought until her gynecologic oncologist called her on a Saturday night to say that the pathology revealed cancerous cells.  “I didn’t hear one word she said after ‘ovarian cancer,’ Mary Ellen shared.  Two weeks later she had surgery and learned that she had stage IIa ovarian cancer.  Surgery and 5 months of chemotherapy were to follow, and Mary Ellen considers herself very fortunate to be a survivor. 

Fast forward 1.5 years.  After several normal mammograms and breast MRIs, Mary Ellen decided to have her breasts removed preventively.  “It was the best decision for me.”  Once again, this was a preventive procedure.  “The breast surgeon congratulated me on beating cancer, and I thought to myself, ‘She shouldn’t say that until we get the pathology back.’ The pathology revealed that, once again, Mary Ellen already had cancer – this time a ductal carcinoma in situ (DCIS), a stage 0 breast cancer.  

Mary Ellen is alive and well at age 61 and feels very fortunate.  “My advice to others is that if you are considering genetic testing, you should always go to a certified genetic counselor first.  We were lucky.  We received the update and I had my surgeries before my cancers were more advanced.  But had we seen a genetic counselor first, I believe we would have been pushed to gather more family history information.  I also believe we would have learned our options for risk reduction earlier in the process.”

Mary Ellen’s story underlines the need not only for genetic counseling, but for receiving updates on VUS results, and all genetic test results because the field and recommendations are always evolving.  

Genetic Counselors and You Webinar Series: Rare Diseases

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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, “Rare Disease: What Role Do Genetics Play?”, was hosted by Kelly East, MS, CGC. You can watch the recording here

 Photo Credit:  hudsonalpha.org

Photo Credit: hudsonalpha.org

Kelly East is a certified genetic counselor and clinical applications lead at the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. She oversees and participates in the provision of genetic and genomic counseling for research projects and clinical services at HudsonAlpha and leads the development of educational experiences and resources for healthcare providers, trainees, and patients.

East begins this webinar with an overview of the requirements for a disease to be considered 'rare' and the (surprising) number of people who have rare diseases: 30 million Americans!

The journey from undiagnosed to a rare disease diagnosis is often a long road. East explains the general steps taken by families who go through this process including misdiagnoses and genetic testing. With today’s technology, there are various types of genetic tests such as karyotypes, microarray, and DNA sequencing tests. East shares the level of coverage versus resolution for each test and how we classify genetic changes. Not all diseases require a genetic test for a diagnosis to be made; some diseases can be diagnosed based on symptoms alone. However, East highlights medical and personal values of a genetic diagnosis.

East makes a very important point: patients should reach out to their genetic counselors to revisit genetic results. A genetic variant may have been reclassified since the initial results were reported. So stay in touch with your genetic counselor!

Here are a few of the resources East mentions during her presentation:

 Global Genes

Global Genes

Register for the next “Genetic Counselors and You” webinars is "Mental Illness and Genetics: Family History, and Protecting Your Mental Health" on Tuesday, October 24 at 8 pm ET. You can watch recordings of previous webinars on the web page as well. 

Follow @MyGeneCounsel and @GeneticCouns on Twitter to stay updated on the webinar series and other genetic counseling related information. 

What You Can Do to Prevent Your Genetic Test Results from Being Misinterpreted

Last week we learned that a 36-year old woman from Oregon had genetic testing and was told that she carried a mutation in a gene called MLH1, that causes Lynch Syndrome.  According to a lawsuit filed by the woman, she was apparently informed that she was at elevated risk to develop cancer and counseled to have her breasts and uterus removed, which she did.  The woman claims, in lawsuit, that she later learned that her test results had been misinterpreted and that she did not carry a disease-causing mutation in the gene.  She apparently carried a variant of uncertain significance (VUS) in the gene, which may have contributed to the confusion. 

This case is upsetting and unsettling --- but it is not surprising.  Why?  My name is Ellen Matloff and I am a certified genetic counselor who has counseled thousands of patients over the past two decades. During that time, as genetic testing became more popular and more clinicians began ordering genetic testing without a certified genetic counselor, we began to see patients whose test results were misinterpreted.  Like this patient, some people had their breasts, ovaries, uterus, even colons removed because their test results were misinterpreted.  Others were diagnosed with cancers, often at late stages, because they were misinformed that their test results were normal.  We saw so many of these cases that we published three papers documenting them, the first of which was published in August of 2010.  Other patients have terminated healthy pregnancies because their genetic test results were misinterpreted.  We see similar problems in cardiac and other types of genetic testing.

Why is this happening?  The field of genetic testing is growing quickly and the average clinician simply cannot keep up.  More and more genes are being added to testing panels and the result interpretation is becoming more complex. 

What can you do to reduce the risk that your genetic test results will be misinterpreted?   This one is simple:  see a certified genetic counselor both before and after you have genetic testing.  Genetic counselors are graduate-trained professionals who specialize in this area.  They will help you to understand the risks, benefits, and limitation of genetic testing, to pick the right laboratory, and to get your insurance company to pay for testing.  After genetic testing, your genetic counselor will help you interpret the results accurately, and will walk you and your family through your options and next steps.

 Photo Credit  NSGC.org

Photo Credit NSGC.org

Isn’t it difficult to get an appointment with a genetic counselor?  No.  This is a fallacy.  The National Society of Genetic Counselors can help you find a counselor near you.  If there are no counselors near you, or the wait time is too long, you may access a counselor via telephone through one of the several companies offering this service.  Many of these companies accept health insurance. 

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Is it really that important to see a certified genetic counselor?  Yes.  As shown by this story, genetic testing can do more harm than good if it’s interpreted incorrectly.  This can impact you, your health, and your entire family.  This problem is so prevalent and the consequences so devastating that I started My Gene Counsel to develop digital tools that reduce the chance that genetic test results are misinterpreted. 

One last note, to the woman featured in this story, “you are not alone.  We are so sorry that this has happened to you and we are committed to reducing the chance that it will happen to others moving forward.” 

Ellen Matloff

CEO, My Gene Counsel

Jackson Lab's Forum on Healthcare Innovation

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The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus on October 25-26, 2017. The conference was full of healthcare innovators and professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. Check out some highlight from presentations below.

Francis Collins, MD, Director of National Institute for Health, shared that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project when the human genome was first sequenced. A major aspect of the project that has impacted the future of research and healthcare was data sharing. Every 24 hours, new data collected from the day was uploaded, allowing researchers to start using the data in their own research. It would have taken years if the project researchers had waited to release data. This idea of data sharing has increased collaboration between scientists, accelerating the rate of research and development.

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Collins also shared his excitement around CRISPR, the gene editing technology, from basic research to human trials. Basic research funds are often questioned by those not working in science. But CRISPR validates the value of investing in basic research, as an example of when a new basic research discovery completely changes healthcare. CRISPR has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease.

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The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). The beta stage started in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project is to accelerate healthcare, specifically for individualized care by enrolling one million participants and studying their samples and big data. The term 'participants' is key, as opposed to 'human subjects', because the participants are partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing: in 2004 it cost $22 million to sequence a genome. In 2017, the cost is a mere $800! “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment, the better we can make this transition in our health care approach.

Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in its second phase. George Weinstock, a professor at Jackson Laboratories, stated there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field and there are research centers focusing on the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to its enormous plasticity. Our microbiome changes with our environment, diet, etc. One interesting research study mentioned studied Olympic level athletes to find out if there is a “golden microbiome”; so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin that improves skin conditions, like acne and eczema.

James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases.

Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications.

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Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to all patients. Genetic testing is growing 20-25% yearly; however, the workforce is only growing by 3%, resulting in a continuously growing gap. Her company aims to reduce this gap by providing real-time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing.

To Have Or Not To Have Genetic Testing?

September and October are Ovarian and Breast Cancer Awareness Months, respectively. Bridging the two months is Hereditary Breast and Ovarian Cancer Week which includes National Previvor Day. 

We asked previvors in the community: what would you like to say to the person on the fence about whether or not to have genetic testing? Here's the advice they offer!

 Photo Credit: Laura Rice

Photo Credit: Laura Rice

Are you a previvor and want to share your advice? Tweet us @MyGeneCounsel or email Ellen at ellen@mygenecounsel.com.

The National Comprehensive Cancer Network (NCCN) Guidelines Have Updated: Here is What You Need to Know

October 2017

 Photo Credit:  Ted.com

Photo Credit: Ted.com

The National Comprehensive Cancer Network (NCCN) provides guidelines to help determine who should have genetic testing for hereditary cancers and how individuals should be followed after testing. They recently published updates to these guidelines that we’ve summarized below. The full guidelines can be found here. We’ve also previously published a list of risk factors, that if present in your personal or family history, should prompt consideration of seeing a certified genetic counselor.

Here are the additions:

1. Who should have BRCA testing?

a. Any man with a personal history of metastatic prostate cancer is a candidate for BRCA and BRCA2 testing. Metastatic prostate cancer is a cancer that has traveled outside of the prostate. 

b. Anyone found to have a BRCA1/2 mutation in tumor tissue (known as a somatic mutation) from ANY TUMOR TYPE is a candidate for BRCA testing, to learn if this mutation may be in other cells of their body and thus inherited. This addition was made in the December 2016 update to the NCCN guidelines but is worth repeating as it is still relatively new.  

c. Again, please find a full list of risk factors here.


2. I have a BRCA mutation, how should I be followed?

a. Women with BRCA mutations who are being screened for breast cancer should consider MRI as the preferred screening method due to the possible risk of radiation exposure from mammography. 

b. If breast MRI screening is not available or not possible, a mammogram can be done with consideration of tomosynthesis (an advanced type of mammogram sometimes called a 3D mammogram). 

c. For women with a BRCA2 mutation, the guidelines restated that it is reasonable to delay ovary and fallopian tube removal until age 40-45. However, this should be considered carefully in the context of your personal and family history. 

d. For women who have not had their ovaries and fallopian tubes removed, the guidelines revised that screening with transvaginal ultrasound and CA-125 blood marker is of uncertain benefit, but may being at age 30-35.

 

3. Any other updates?

a. The guidelines for breast cancer screening for individuals with Li-Fraumeni (TP53 mutations), Cowden syndrome (PTEN mutations) and mutations in the ATM, CDH, CHEK2, NBN, NF1 and PALB2 have added that mammogram can be done with consideration of tomosynthesis.

b. Other updates include changes in management for individuals with Li-Fraumeni (TP53 mutations), Cowden syndrome (PTEN mutations) and mutations in the ATM, CHEK2 and NF1 genes. Please see the full document for these details.

c. Patients diagnosed with advanced breast cancer that is HER2-negative AND who are eligible for single-agent chemotherapy are eligible for germline BRCA 1/2 testing.  If BRCA+, they may be a candidate to take a medication called Olaparib (also called Lynparza), a PARP inhibitor that is FDA approved for the treatment of patients with advanced breast cancer and BRCA pathogenic variants.

 

NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 1.2018

NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Version 4.2017

Genetic Counselors and You Webinar Series: Alzheimer’s Disease

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

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

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

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

Hahn’s Key Points:

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

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

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

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

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

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

 Photo Credit: afrmcblog.org

Photo Credit: afrmcblog.org

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

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

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

If a person does carry a germline mutation in BRCA:

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

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

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

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

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

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

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

*NCCN Guidelines 2.2017.  

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

 

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.

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. 

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.

 Photo Credit:  Clipart Kids

Photo Credit: Clipart Kids

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.

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!


   
  
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    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.