Direct-to-Consumer Genetic Testing

 
A growing number of for-profit companies are selling genetic testing services directly to customers who pay anywhere from $100 t0 $1000 for their personal genetic profile.

Several blogs have been actively promoting these private companies and encouraging people to sign up for their services. The cheerleader bloggers have been among the first to submit thier DNA for testing. In general, there has been little discussion about the ethical implications of direct to consumer, for-profit, genetic testing and little discussion about scientific issues such as accuracy. There has been a bit of talk about misleading advertising [23andMe - More Hype from Genetic Testing Services].

One of the more responsible bloggers has been Hsien-Hsien Lei. She is very open about her employment with DNA Direct. She recently posted an article outlining the concerns of the American Society of Human Genetics (ASHG) [American Society of Human Genetics (ASHG) Statement on Direct-to-Consumer Genetic Testing].

The ASHG, like many of us, is worried about this trend to commercialization of genetic testing. They've issued some guidelines on direct-to-consumer (DTC) genetic testing (Hudson et al. 2007).

DTC testing has emerged during a period of rapid growth in the number of genetic tests. Today, there are more than 1,100 genetic tests available clinically, and several hundred more are available in research settings. Although most genetic testing is currently available only through a health care provider, an increasing variety of tests are being offered DTC, often without any health care provider involvement or counseling. The range of tests available DTC is broad, from tests for single-gene disorders, such as cystic fibrosis, to tests for predisposition to complex, multifactorial diseases, such as depression and cardiovascular disease. In addition to providing test results DTC, some companies also make recommendations regarding lifestyle changes on the basis of these results, such as changes in diet or use of nutritional supplements.

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Recommendations

I. 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.

• Companies offering DTC genetic testing should disclose the sensitivity, specificity, and predictive value of the test, and the populations for which this information is known, in a readily understandable and accessible fashion.
• Companies offering DTC testing should disclose the strength of scientific evidence on which any claims of benefit are based, as well as any limitations to the claimed benefits. For example, if a disease or condition may be caused by many factors, including the presence of a particular genetic variant, the company should disclose that other factors may cause the condition and that absence of the variant does not mean the patient is not at risk for the disease.
• Companies offering DTC testing should clearly disclose all risks associated with testing, including psychological risks and risks to family members.
• Companies offering DTC testing should disclose the CLIA certification status of the laboratory
  performing the genetic testing.
• Companies offering DTC testing should maintain the privacy of all genetic information and disclose their privacy policies,
  including whether they comply with HIPAA.
• Companies offering DTC testing and making lifestyle, nutritional, pharmacologic, or other treatment recommendations on the basis of the results of those tests should disclose the clinical evidence for and against the efficacy of such interventions, with respect to those specific recommendations and indications.

II. 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.

• Professional organizations should disseminate information to their members explaining what DTC testing is, what tests are offered DTC, and the potential benefits and limitations of such testing for patients.

III. 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.

• CMS should create a genetic testing specialty under CLIA, to ensure the analytic validity of tests and the quality of genetic-testing laboratories.
• CMS should ensure that all DTC genetic-testing laboratories are certified under CLIA and should maintain a publicly accessible list containing the certification status of laboratories.
• The federal government should take steps to ensure the clinical validity of DTC tests that make health-related or health care-affecting claims.
• The FTC should take action against companies that make false or misleading claims about DTC tests.
• The FDA and the FTC should work together to develop guidelines for DTC testing companies to follow, to ensure that their claims are truthful and not misleading and that they adequately convey the scientific limitations for particular tests.
• The Centers for Disease Control and Prevention (CDC) should conduct a study on the impact of DTC testing on consumers, to assess whether and to what extent consumers are experiencing benefit and/or harm from this method of test delivery. The CDC should also conduct a systematic comparison between the claims made in DTC advertising and the scientific evidence available to support these claims.

Similar controls need to be put in place in other countries since these testing services are marketed on the internet where they are not restricted to American citizens.

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Hudson, K., Javitt, G., Burke, W., Byers, P., with the ASHG Social Issues Committee (2007) ASHG Statement on Direct-to-Consumer Genetic Testing in the United States. Obstetricians and Gynecology 110:1392-1395. [PubMed]