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DTC genetic tests neither accurate in their predictions nor beneficial to individuals
Date:5/30/2011

Amsterdam, The Netherlands: Direct-to-consumer (DTC) genetic tests give inaccurate predictions of disease risks and many European geneticists believe that some of them should be banned, the annual conference of the European Society of Human Genetics will hear today (Tuesday). In the first of two studies to be presented, Rachel Kalf, from the department of epidemiology at Erasmus University Medical Centre, Rotterdam, The Netherlands, will say that her research is the first to look at the real predictive ability of such tests, the results of which are available directly to an individual without having to go through a healthcare professional.

Working under the supervision of Associate Professor Cecile Janssens, together with researchers from Leiden, The Netherlands, and Boston, USA, Ms Kalf examined the risk predictions supplied by two large DTC companies, deCODEme (Iceland) and 23andMe (USA). They simulated genotype data for 100,000 individuals based on established genotype frequencies and then used the formulas and risk data provided by the companies to obtain predicted risks for eight common multi-factorial diseases age-related macular degeneration (AMD), atrial fibrillation, celiac disease, Crohn's disease, heart attack, prostate cancer, and Type 1 and Type 2 diabetes (T2D).

Although the predictive ability of the DTC tests in the study was moderate for all diseases, both companies assigned an increased risk to a substantial part of the group. Yet the risk of disease in this group was often not substantially higher than the risk in the rest of the population studied. For AMD, the disease with the highest predictive ability, both companies assumed that the risk in the population was around 8%. Of all subjects designated as having an increased risk, 16% using the 23andMe risk estimations and 19% using deCODEme's estimations would develop AMD, compared to the 4% found in the rest of the population studied.

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Contact: Mary Rice
mary.rice@riceconseil.eu
European Society of Human Genetics
Source:Eurekalert

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