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Article: Mixed reviews of at-home genetic testing

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At home test identifies mutation carrier Questions for your doctor
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What does this mean for me? Resources

At home genetic test identifies mutation carrier

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.”

Concerns and risks associated with DTC genetic testing

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.”

What does this mean for me?

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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Posted 10/20/17


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

Khoury, MJ.  Direct to Consumer Genetic Testing: Think Before You Spit, 2017 Edition!  2017

National Society of Genetic Counselors. "What is At-Home Genetic Testing? Understanding what an at-home test will – and will not – tell you.”


FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

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

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Expert Guidelines
Expert Guidelines

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
    • cancer
    • melanoma
    • sarcoma
    • adrenal cancer
    • brain tumors
    • leukemia
    • endometrial cancer
    • thyroid cancer
    • kidney cancer
    • diffuse gastric cancer
    • colon cancer

Updated: 12/04/2021

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • 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?

Open Clinical Trials
Open Clinical Trials

The following clinical trials include genetic counseling and testing. 

Other genetic counseling or testing studies may be found here.


Updated: 02/29/2024

Peer Support
Peer Support

FORCE offers many peer support programs for people with inherited mutations. 

Updated: 08/06/2022

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselors 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 from 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. 

Related experts

Genetics clinics

Other ways to find experts

Updated: 07/21/2023

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