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European Clinical Geneticists Wary of DTC Testing

NEW YORK (GenomeWeb News) – Clinical geneticists in Europe are concerned about the use of direct-to-consumer genetic tests by consumers who have not had in-person discussions with doctors or genetic counselors about these tests, according to a study published in Genome Medicine. The geneticists are particularly worried about when the results are related to serious or actionable health conditions.

The survey of 131 clinical geneticists in the European Union in 2010 showed that most of them are aware that companies sell tests directly to consumers, but that most think that consumers should not be receiving disease-related genetic results without some form of face-to-face counseling.

The study's authors, Heidi Howard of France's National Institute of Health and Medical Research and Pascal Borry of the University of Leuven, say that the views of geneticists, who are on the front lines of the advance of genomic medicine, may be useful in shaping responsible policies and guidelines for consumer genetic tests.

The survey found that 86 percent of the clinical geneticists were aware of DTC firms and what they do. Further, 34 percent of the respondents said they have had a patient who has addressed DTC testing, but who have not yet taken such a test, while 44 percent said they have had at least one patient contact them after they have undergone a DTC genetic test.

Consumers who ask these specialists about DTC testing primarily want to know about the quality and relevance of the tests.

"Specifically, some of the topics were related to notions of 'clinical significance', 'validity', 'accuracy of tests', 'medical relevance', and 'benefits'," Howard and Borry said.

"Some clinicians were also approached with questions about specific types of testing: pharmacogenomics, paternity, ancestry, and disease testing. … Other patients asked basic practical information regarding price and the availability of the tests," they added.

Most geneticists surveyed expressed concern about how consumers are counseled. The authors found that 84 percent of the respondents disagreed with replacing face-to-face supervision by a medical doctor with supervision via telephone with a party outside of the doctor-patient relationship, which is how some DTC testing firms provide counseling and information about their tests and results.

The geneticists were not particularly concerned that tests for genes related to hair color, ancestry, or height would cause problems; the big issue was with tests that evaluate risks for serious diseases — whether consumers are equipped to receive, process, and analyze such information, and what they might do about it.

A strong majority said it is unacceptable to provide medical supervision that is not face-to-face for three types of cases: presymptomatic tests for conditions with very high penetrance; predictive tests for conditions that have medium high penetrance of 50 percent to 60 percent; and carrier testing.

Many of the respondents urged genetic counseling before and/or after genetic testing.

"Genetic testing must be preceded by genetic counseling. If not, the whole issue can give you more troubles than benefits," one geneticist responded.

"Testing should be accompanied by explanation and counseling because the client must be aware of the limitations of the test, interpretation of the results, and the consequences of the result," another responded.

Regardless of their attitudes about DTC testing, the majority, 86 percent, of geneticists surveyed said they would provide genetic counseling to patients who have already had taken DTC testing.

"A physician's role is to assist a patient whatever the circumstances," one wrote.

"It's like treating the injuries of a drunk driver after an accident — it should not have happened, but now you have to minimize the damage," another stated.

The authors suggested that one point policy-makers may take away from their survey is that clinical geneticists in Europe are already being presented with patients who have undergone genetic tests.

Although this study did not measure the impact DTCs are having on the healthcare system, it suggested that there could be a potential cascade effect coming in the future, particularly if physicians find they are spending more time and energy addressing patients with test results that are not medical priorities.

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