In the news

A US company, DNA Direct, is offering breast and ovarian cancer genetic susceptibility test kits for sale directly to the public (see Harding A (2005) BMJ 330, 617) for between $586 and $3312 (roughly £300 and £1750), depending on the complexity of mutation screening selected. The company says that it provides the same service that an individual would get from any healthcare provider, except that results and counselling are given by telephone or via the internet “that redefines traditional, face-to-face genetic counselling”. Previously, the genetic test manufacturer, Myriad, restricted use of the test kits to patients referred via a doctor or cancer clinic, but because DNA Direct employs doctors and counsellors, Myriad reportedly considers their arrangement satisfactory (see CBS news report).

However, experts are worried that effective, tailored genetic counselling cannot be delivered other than in person, and that there is a danger that interpretation of complex test results and their implications by such means may not be adequate. Dr Francis Collins, Director of the National Human Genome Research Institute, observed that although DNA Direct is “a cut above most genetic testing companies” because it does employ clinicians, he was nevertheless concerned about cutting the primary care physician out of the equation. "As often is the case, science is running ahead of public policy", he said, noting that although genetic testing has enormous potential, the majority of claims on commercial genetic testing websites are not scientifically sound.