American Society of Human Genetics (ASHG) Statement on Direct-to-Consumer Genetic Testing

by Dr. Hsien-Hsien Lei
Posted January 2, 2008 in DNA Testing

As each new next-gen personal genomics company launches, direct-to-consumer (DTC) medical genetic testing comes under increased scrutiny. Last month, the American Society of Human Genetics (ASHG) published an official statement and set of recommendations on DTC genetic testing in Obstetrics & Gynecology.

1. Transparency – To promote transparency and to permit providers and consumers to make informed decisions about DTC genetic testing,
   companies must provide all relevant information about offered tests in a readily accessible and understandable manner.
2. Provider Education – To ensure that providers are aware that genetic tests are being provided DTC and that some of these tests may lack analytic or clinical validity, professional organizations should educate their members regarding the types of genetic tests offered
   DTC, so that providers can counsel their patients about the potential value and limitations of DTC testing.
3. Test and Laboratory Quality – To ensure the analytic and clinical validity of genetic tests offered DTC and to ensure that claims made about these tests are truthful and not misleading, the relevant agencies of the federal government should take appropriate and targeted regulatory action.

While the ASHG Social Issues Committee recognized the value of DTC genetic testing to increase consumer access to testing, consumer autonomy and empowerment, with the added potential of ensuring greater patient privacy, they also believe that the lack of regulation over the industry means that tests are being offered which do not live up to their advertised potential. The federal government does little to oversee analytic validity (test accuracy) and clinical validity (correlation between genetic variant and medical condition) However, the Committee also acknowledge that DTC tests do no impeded patient health and may even improve it.

MedPage Today also covered public health fears surrounding the marketing of genetic tests and specifically mentions Navigenics, 23andMe, deCODEme, and GeneLink. In the article, Gail Javitt of the Genetics and Public Policy Center points to the following challenges:

• Does a lab get the right answer? The answer is soon clear when the test is for a baby’s sex, for example, but may be much less obvious with the results of others tests.
• How do the testers know that their work is clinically valid?
• How does anyone know if a test is actually useful?

With increased competition in the field of direct-to-consumer personal genomics in 2008, I predict that only companies that can fully address the recommendations and answer the questions above will survive (and you know who you are!). Consumers are getting up to speed on what genetic testing can offer them and won’t settle for fuzzy, incomplete information.

Tags: genetics, genes, dna, direct to consumer genetic testing

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Pingback by The New England Journal of Medicine Gives Direct-to-Consumer Genome Scans Thumbs Down

2008-01-10 19:10:28

[...] Here are the concerns about genome scans as raised by the NEJM article (much of them overlap with those raised by the American Society of Human Genetics): [...]

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Pingback by Direct-To-Consumer Genetic Tests - Good or Evil?

2008-04-04 16:34:25

[...] NB: The Genetics and Public Policy Center previously released an American Society of Human Genetics (ASHG) Statement on Direct-to-Consumer Genetic Testing. [...]

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