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ESHG Makes Recommendations on Genetic Testing

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – An end to the overhyping of genetic tests, more and better evaluations of such tests, and more diligent regulation of these tests are among a set of recommendations being made by the European Society of Human Genetics.

In an article recently published in the European Journal of Human Genetics — which is published by the non-profit ESHG — the authors wrote that as genomics-based research starts moving into the clinic, ways to handle the onslaught of genomic information, evaluate it, and use it to evaluate and treat patients need to be determined, and in some cases, codified.

The authors said that during the past two decades the focus of genetic research has shifted away from monogenic and chromosomal disorders to common complex diseases. This shift, they said, "promises to give insights that might lead to refinement of diagnosis and more accurate prognosis, disease management, and disease prevention in common complex disorders that are of major relevance for population health."

However, they added, many claims of better health outcomes have not yet been realized "and might, in retrospect, have been too optimistic."

"Currently … the genetics research community is skeptical about the possibilities of genetic susceptibility testing and screening contributing significantly to the improvement of the quality of health care," they said, adding that the promises that genomics would lead to a new era of healthcare has amounted to "genohype."

Better assessment of the research, and in particular, the translation of such research into clinical utility, is needed, they argued. In the meantime, however, genetic tests are making their way to the market with little way for healthcare professionals and consumers to evaluate them.

In some instances, genetic testing can be appropriate, for example, in monogenic subtypes of common disorders, after a family history is considered. "This would provide ready opportunities to health gain in the case of, for instance, breast and ovarian cancer related to BRCA1 and BRCA2 mutations, FAP, HNPCC, MODY subtypes of diabetes, and FH," the authors said.

But in many other cases, genetic testing offers little, if any, use.

In the example of direct-to-consumer genetic tests, special caution should be taken, they said.

"As information on analytic validity alone is insufficient to assess the usefulness and performance of a test, this information should not be considered as sufficient pre-market evaluation," they wrote.

"The premature introduction of commercial genetic tests may have some serious disadvantages," such as confusion among consumers from test results, improper action based on the results, and a waste of "scarce health care resources."

The authors noted, "Special attention is necessary regarding advertising for direct-to-consumer tests to ensure adequate information is given and truthful claims are made about the test and possible interventions."

They also recommended the creation of a regulatory framework to evaluate genetic tests, regardless of whether they are marketed to consumers or healthcare professionals. In Europe, under CE marking, many genetic tests fall under the heading of in vitro diagnostics, and are categorized as low-risk products. As a result, they do not have to be independently evaluated before they are marketed.

"The goal of the process of pre-market review is to ensure truth-in-labeling and truthful promotion of in vitro diagnostics devices," the authors said. "Mechanisms for post-marketing evaluation are not in place yet. It is recommended that an internationally recognized regulation for mandatory pre-market review for genetic tests be established, including one for common disorders. It would be desirable to develop a post-marketing evaluation procedure."

In all, they make 10 recommendations — among them: avoiding overselling the potential and promise of genomic research; evaluating the clinical utility of genetic testing before large-scale applications; studying the translation of research findings to the clinic; and performing studies to accompany pilot programs when clinical utility is likely but evidence is partly lacking.

They also suggested that "monogenic conditions can serve as examples for common complex diseases, both in strategies to identify etiological pathways and in strategies to develop health care in a responsible way;" that qualified healthcare professionals be available to explain the results of genetic tests to consumers; that there be adequate regulation over such tests; and that there be changes in insurance so that patients are reimbursed for such tests in order to make testing available to the masses.

In developing nations, governments have "an extra duty" to address access gaps to genetic testing, the authors said. Lastly, they recommended EU members sign and ratify the European Convention on Human Rights and Biomedicine to secure privacy and non-discrimination regarding genetic information.

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