For as little as about $400, a consumer can hire 1 of several companies to scan his or her entire genome for about a million genetic variations in hopes of identifying the presence of variants associated with an elevated risk of developing a disease. But lingering uncertainties about the validity and clinical implications of such results raise the question of whether marketing these tests to consumers is premature.
The unprecedented speed with which high-throughput techniques for extracting genetic information are being translated into commercial products—bypassing traditional professional and regulatory gatekeepers—has left scientists and clinicians playing catch-up. But professional organizations and regulators are beginning to weigh in on how these products should be used, and scientists are launching efforts to systematically answer the questions raised by these tests.
Kuehn BM. Risks and Benefits of Direct-to-Consumer Genetic Testing Remain Unclear. JAMA. 2008;300(13):1503-1505. doi:10.1001/jama.300.13.1503