Article: Mixed reviews of at-home genetic testing
|At home test identifies mutation carrier||Questions for your doctor|
|Risks of at-home testing||Guidelines|
|What does this mean for me?||Resources|
A July 2017 ABC TV Baltimore news segment by reporter Mallory Sofastaii highlighted the story of Lara Diamond, who ordered a 23andme at-home genetic test to learn more about her genealogy. She expected the test to expand her family tree and locate distant relatives. Instead, she learned she had inherited a mutation.
Diamond immediately followed up with her doctor and a genetic counselor, and was diagnosed with 1 breast cancer after she had a screening breast . She had no prior knowledge of family history of breast cancer. She states, “There were no symptoms. I mean I wouldn't have gotten screened for years. The fact that a couldn't see it, couldn't see it, it would've been a couple more years until there were any symptoms that would've made us question anything.”
While the at-home test enabled Diamond to be proactive about her health, the author of the news report stated that not everyone who has used DTC genetic testing has shared a positive experience. In fact, in November 2013, the stopped 23andMe from sharing such results because of risks associated with findings.
It’s important for consumers to understand that these genetic tests do not give a diagnosis. Even a genetic predisposition for a disease, such as late-onset Alzheimer's, doesn't guarantee that you will develop it. The test merely suggests that you may be predisposed. For some diseases, there are other factors such as environmental factors and lifestyle choices that may influence whether someone will get a particular disease. Genetics counselors are experts who are trained to look at an individual’s personal and family health history in order to help people better understand their risk for disease and their options for staying healthy.
The news report addresses some concerns and risks associated with DTC genetic testing and references the National Society of Genetic Counselors' (NSGC) position on Direct Access to Genetic Testing. The NSGC recommends caution when interpreting results at home. The author of this article interviewed Natalie Beck, a certified genetic counselor at the Johns Hopkins Institute of Genetic Medicine, who said, “It's not as simple as one single variant or one single gene and giving people an absolute increase or decrease risk for their health. And that challenge of patients trying to interpret their own genetic test results, I think, can lead to a lot of false anxiety or maybe even false reassurance.” Ellen Matloff, a certified genetic counselor and President & CEO of My Gene Counsel, explains that “Some patients who had 23andMe testing believed that they had been screened for all mutations in and . In reality, they had only been screened for the three common Jewish mutations—a result which is almost meaningless in anyone not of Jewish ancestry.”
Most DTC genetic tests are not meant to provide health information. This changed in April 2017 when the granted 23andMe permission to market its Personal Genome Service Genetic Health Risk tests for 10 diseases. These are the first DTC genetic tests the has allowed to provide health and genetic information directly to consumers and not healthcare providers.
If you are considering at-home genetic testing, it’s important to understand what a test may or may not tell you, how reliable the test is, and whether you will receive any guidance to help you understand what the test results mean for you and your family. The NSGC recommends answering the following questions before submitting a sample for a DTC genetic test:
- Is the company trustworthy?
- What exactly will the test tell you?
- Will your personal information be protected?
- What professional help will the company provide?
Lastly, if you have already had a DTC genetic test, show your test results to your doctor or genetic counselor so that you can discuss them together.
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American College of Medical Genetics and Genomics Board of Directors Statement. Direct to consumer testing: a revised position statement from the American College of Medical Genetics and Genomics. Genetics in Medicine. 2016. 18:207–208
National Society of Genetic Counselors. "What is At-Home Genetic Testing? Understanding what an at-home test will – and will not – tell you.”
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This article is relevant for:
People who are considering or have had direct-to-consumer testing
This article is also relevant for:
people with breast cancer
healthy people with average cancer risk
Be part of XRAY:
NCCN guidelines recommend genetic counseling and testing for people without cancer who have the following family history:
- A relative who has tested positive for an in a gene that increases cancer risk.
- One or more first- or second-degree relatives with breast cancer and any of the following:
- diagnosed at age 45 or younger
- two separate breast cancers, with the first diagnosis at age 50 or younger
- male breast cancer
- One or more first- or second-degree relatives with:
- colorectal cancer before age 50
- endometrial cancer before age 50
- ovarian, , primary peritoneal cancer
- rare or childhood cancers
- One or more first-degree relatives with:
- or high-grade cancer
- pancreatic cancer
- Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:
- breast cancer
- pancreatic cancer
- adrenal cancer
- brain tumors
- endometrial cancer
- thyroid cancer
- kidney cancer
- diffuse gastric cancer
- colon cancer
- Should I consider genetic testing?
- I had genetic testing, what do my results mean and what are my medical options?
- Should I share my 23andMe results with my relatives? Which ones?
- Can you refer me to a genetic counselor?
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of .
- NCT05694559: Connecting Black Families in Houston, Texas to Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
The following resources can help you locate a genetics expert near you or via telehealth.
Finding genetics experts
- The National Society of Genetic Counselor website has a search tool for finding a genetic counselor by specialty and location or via telehealth.
- InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
- Gene-Screen is a third party genetic counseling group that can help educate, support and order testing for patients and their families.
- JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
- Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone.
- The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.