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Are Home Genetic Tests Worthwhile?

I'm considering genetic testing, mostly out of curiosity about what the future may hold for me. What do you think of home genetic tests? Do you consider them accurate and worthwhile?

Answer (Published 6/10/2014)

I first wrote about this topic in 2006, when home genetic testing kits were just becoming available. My main objections at the time were that the tests might not always be accurate, and even if they were, the results could be harmful to consumers if not interpreted correctly.

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Those concerns remain true today. The results of medical genetic tests ordered by physicians are usually delivered by trained counselors who are qualified to interpret the results, put them in perspective, and discuss what kind of follow-up or intervention, if any, is needed. Although the home testing field has advanced since 2006, I’m still concerned about the validity of results, as are the FDA and the General Accounting Office (GAO). It appears none of home genetic tests that are now widely available has undergone premarket review by the FDA to ensure that results are accurate, reliable, and medically meaningful.

While researching this issue, I came across an entertaining and illuminating article by a young woman of Asian descent who lives in Australia. She complained about the useless results she received from one of the leading home genetic testing services. The writer, Elly Hart, was 23 when she took the test. She reported that the results indicated she has an 8.9 percent risk of a heart attack, based on data that assumes she is of European descent and between the ages of 40 and 79. I doubt that Ms. Hart is the only customer who has received such off-base results.

Another issue that concerned me in 2006 was whether genetic test results, which should be private, might get into the hands of insurance companies and compromise an individual’s medical coverage or employment. However, in 2008 the Genetic Information Nondiscrimination Act (GINA) was signed into law and (mostly) removed this worry. Unfortunately, the law doesn’t cover life insurance, long-term care insurance or disability insurance, so some test results still might prove troublesome.

What’s more, according to a comprehensive review of direct-to-consumer genetic testing, published in September 2013 in the Yale Journal of Biology and Medicine, government guidelines regarding GINA do not prohibit health insurers from using genetic results in determining insurance premiums, which further limits the scope of protection.

In spite of the minimal protection provided by GINA, I read that some people have shared their genetic test results on Facebook, Twitter and in blogs and emails – probably not a great idea.

So I still feel as I did in 2006 – that medical genetics is a complex field not well suited to home testing. If you’re concerned that you may have inherited a predisposition to a disease, talk to your physician about the need for testing and the right way to have it performed.

Andrew Weil, M.D.

Pascal Su, "Direct to Consumer Genetic Testing: A Comprehensive View," Yale Journal of Biology and Medicine, Published online Sep 20, 2013. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767220/#R9, Accessed April 8, 2014.

Ricki Lewis, "Direct-to-Consumer Genetic Testing: A New View" DNA Science Blog [Internet] 2012. Nov 8, [cited 2013 Jun 7]. from: http://blogs.plos.org/dnascience/2012/11/08/direct-to-consumer-genetic-testing-a-new-view/, Accessed April 8, 2014.

Elly Hart, "Why 23andMe Genetic Testing Is A Waste Of Time And Money," Gizmondo, April 2011, http://www.gizmodo.com.au/2011/04/why-23andme-genetic-testing-is-a-waste-of-time-and-money/, Accessed April 8, 2014.

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