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Genetics Experts Consider Tighter Regulation, Potential Ban on DTC Genetic Testing

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The genetic testing industry has garnered much attention recently as an increase in corporate players and spread of testing has caught the eye of government regulators, and some industry watchers are beginning to consider what sort of regulatory schemes could be used to protect consumers without killing businesses and squelching innovation.

In the August issue of Nature two genetics experts argue for increased regulations, but urge two different approaches.

In two opinion articles, Professor and Chair of the Department of Molecular and Human Genetics at Baylor College of Medicine Arthur Beaudet and Gail Javitt, a research scholar at the Berman Institute of Bioethics at Johns Hopkins University, both agree on the need for regulations for genetic tests in general, but disagree on how to regulate tests sold directly to consumers.

Beaudet believes that if FDA, which has been sending letters to DTC genetics companies that suggest it aims to regulate these tests as if they are medical devices, follows through with its approach that it could, at best, lead to the wasting of "a huge amount of government time and money."

"At worst, genetic diagnostics will grind to a halt," he added.

Instead, he advises, FDA should apply regulations to the performance of the tests themselves and should allow the interpretation of the results from the tests to be carried out by board-certified practitioners.

He also argues that DTC medical genetic testing should be banned, because by definition they present results to consumers without consultation of a healthcare provider.

However, Beaudet believes in the future DTC tests could be used in ancestry testing and to determine the sex of a fetus, but test results that might warrant medical intervention requires knowledge and expertise that even many doctors currently do not have.

Beaudet advised that if FDA wants to wait to clear genetic tests until the clinical sensitivity, specificity, and utility of all the genetic markers have been approved for use, then "genetic diagnostics will come to a standstill."

In order for genetic testing to flourish in medicine, he said, regulators should ensure that all genetic tests provide accurate and reliable genotype, sequence, and copy-number data and that data sets are stored privately in electronic records. The process of interpreting data should be considered part of the medical process, he suggested, and should require board certification in the same way that radiologists undergo examinations, training programs, and licensing procedures.

"Currently, the results of genetic tests are interpreted by molecular geneticists, cytogeneticists, and molecular pathologists. As more is discovered, perhaps more specialist 'genomicists' will be needed. These people would be trained specifically in disease pathogenesis, genetics, genomics, and bioinformatics," Beaudet concluded.

A less stringent approach is proposed by Gail Javitt, who suggests that regulators should not treat DTC genomic tests differently than other genetic tests. Instead, FDA and other regulators around the world should install a regulatory framework to ensure quality in all health-related genetic tests, and they should develop requirements that are based on the potential risks and dangers of each test, she said.

Javitt believes — and the FDA appears to agree based on the letters it sent to a number of DTC genomics companies — that these firms are making "overblown" claims about the significance and usefulness of many genetic markers in their marketing efforts. However, policies based on the difference in legitimacy between clinical lab tests and DTC tests may be problematic, because any saliva or blood-based test could, in theory, be offered directly to consumers, she continued.

She believes that regulators already have many of the tools in place that it needs to ensure that "all genetic testing is valid and safe."

First, she explains, the US Federal Trade Commission in particular and other regulators should enforce existing laws against companies that make false or misleading claims about their tests. FTC should pay particular attention to the claims made by the DTC testing industry, she believes.

Second, the agencies should assign regulation to each test based on its levels of risk, she suggested. "It would be a waste of resources for the FDA to require laboratories to submit clinical validation for certain tests," she explained.

Tests that are recommended by professional medical societies for prenatal or newborn screening, for example, have become standard medical practice.

Tests that are used to make significant therapeutic decisions with significant clinical impact, however, should be properly validated by FDA before they are introduced into the clinic, she added.

Some genetic tests in the future may be similar to pregnancy tests, and could be sold over the counter, while others may be sold to consumers but may need to be processed by laboratories. Makers of some of these tests may be required to provide genetic counseling services for these tests, Javitt suggested.

Existing regulatory tools, such as those used for prescription drugs, may be used to inform FDA's approach to genetic tests. For example, the agency may enable companies to make certain changes to their products based on newly available information without FDA approval.

"In such a fast-changing landscape, striking the right balance between protecting the public and promoting innovation is crucial. Agencies must proceed in small steps, articulate clear goals and rationales for their proposed actions, and consider input from all those affected," Javitt concluded.

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