NEW YORK (GenomeWeb News) – The European Society of Human Genetics believes that regulations are needed to prevent direct-to-consumer predictive genomic services without well-reviewed clinical validity and utility from making it into the market or into clinical practice, the group said in a new policy statement.
In the September issue of the European Journal of Human Genetics, ESHG provides a multi-point policy proposal for DTC genetic testing that covers a range of issues related to predictive medical tests, and it specifically states that its proposals do not apply to DTC paternity and ancestry testing.
Among the group's proposals are positions on oversight of test quality, clinical utility, supervision and genetic counseling, as well as consent, privacy, and storage issues.
ESHG said that a test's clinical utility is a critical factor in whether or not the test should be offered, that information about the purpose and appropriateness of a test should be provided before the test is performed, and that labs providing such tests should comply with quality standards regarding the tests and lab personnel.
Privacy and confidentiality should be guarded, and special measures should be taken to keep minors and incapacitated persons from being tested inappropriately, ESHG said.
The group also tackles how DTC tests are presented to the public, saying that claims made about tests should be transparent, advertising and marketing should be unbiased, and ethical principles and international agreements should be taken into account regarding marketing. It also says that nationally approved guidelines should be made and followed by firms offering the tests.
One of ESHG's central concerns is that unproven or inappropriately marketed DTC genetic tests could hurt the perception of genetic testing in the public mind.
"Oversight will be important to synthesize available evidence on the clinical validity and utility of emerging genetic tests and to identify current gaps in knowledge, as well as the studies and measures needed to resolve them," the group said.
ESHG proposes that legislation should be adopted that would require that medical professionals be involved in decisions about predictive genetic tests.
In addition, several regulatory mechanisms already existing in Europe should be adopted, adapted, or implemented more widely, ESHG advised, including the European In Vitro Diagnostic Devices Directive, the OECD Council Recommendation on Quality Assurance in Molecular Genetic Testing, and the 2008 Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes.
In developing its opinions on DTC marketing of genetic tests, ESHG looked to the pharmaceutical industry. The group says that advertising for prescription medicines to consumers has "created an inappropriate demand for medications," and that some drug advertisements have been misleading by overstating their effectiveness or minimizing risks. ESHG thinks that DTC genomics advertising could follow the same path.
"Aggressive marketing strategies and slogans for DTC genetic testing might overstate the potential for predictive information of such tests and overrate its future health implications," according to the policy statement. "All this is likely done to increase test uptake and artificially create new demands, that is, to earn money."
What the group hopes is that standards similar to those for drugs and medical devices will be adopted for DTC genomics. These standards should ensure that advertising will be accurate and not misleading, that claims should be transparent and should be supported by current evidence, and accurate information about the limits, risks, and benefits of the tests should be provided.
ESHG also places the quality of genetic tests at the center of its concerns, and it is specifically interested in the clinical validity and utility and the analytical validity of the tests, as well as the quality of testing labs and lab employees. Based on those criteria, ESHG said that it opposes the premature commercialization of various genetic tests directly to consumers, particularly those for which evidence for its clinical utility is not available.
Labs, the group said, should implement an internal quality system, and they should be subject to regular external quality assessment. In addition, core employees at labs providing these tests should have the appropriate qualifications and training.
Another central concern for ESHG is how much information consumers will have about the tests and how their genetic information will be handled when they consent to the test. True informed consent procedures should not be reduced to simply the signing of a consent form, the group said. Although a signed consent is necessary, it does not ensure that consumers understand the disclosed information, that they are legally competent, and cognitively capable.
"Privacy and confidentiality of the results, as well as possible consequences related to their disclosure to third parties, such as insurance companies and employers, should be discussed, when appropriate, as well as the property of the biological material and its fate after the results are confirmed," ESHG said.
The group also made the case for increased education about genetics among the public in general and in the media, saying that it "will be of great importance to foster medical supervision of health-related genetic testing."
In the policy statement, ESHG said that individuals are "entitled to health information and genetic information about themselves," but it argued that "this right to know must be exercised with due respect for the need to protect the same individuals from inappropriate genetic information and testing."
ESHG made clear that DTC genetic testing may provide the sort of individual and informed control over one's future that companies offering these tests advertise. However, the group stated that a healthy DTC genetic testing industry will depend on consumers receiving adequate pre-test information, including counseling and psychological support when necessary, and on the quality and medical relevance of the testing technology and analysis.