By CRG Staff

The Food and Drug Administration's Molecular and Clinical Genetics Advisory Panel held a two day hearing on March 8th and 9th to discuss the regulation of direct-to-consumer genetic testing companies (DTC). These companies offer individuals the opportunity to discover if their genomes possess SNPs, and in some cases known Mendelian variants associated with disease and cancer risk, nutrient metabolism, drug response and metabolism, and recessive carrier states among others. They further offer risk assessment services, which look at several genes simultaneously to give probabilities of disease development over one's lifetime, and offer diet and lifestyle recommendations on the basis of these genetic test results. Most of these tests look for common disease variants, such as those linked to heart disease, and do not consider family history and environment which many argue are still better current predictors of disease.

The hearing followed a substantial amount of agency activity last summer, when the FDA held a similar hearing on DTC, followed by a Congressional hearing where the General Accounting Office released a report seriously questioning the accuracy of DTC testing and the marketing methods of several DTC companies.

The Panel heard testimony from a wide variety of experts and interested parties including DTC genetic testing company representatives from 23andMe and deCode Genetics. There appeared to be signficant distance between industry supporters and critics regarding their belief in the accuracy of such testing services. FDA staff presented findings that questioned how DTC companies conducted their statistical analyses as well as offering a tutorial on how different types of medical tests are currently regulated.

Advocates for DTC insisted that everone has a right to access their genome and have a better informed understanding of their health. Former FDA official Mary Pendergast, who now works as an adviser to some companies that seek to market genetic tests, said that it was paternalistic to require a qualified medical professional to be involved in DTC testing. "There is an alternative to this highly paternalistic approach; that information in and of itself is not harmful," said Ms. Pendergast.

CRG President Jeremy Gruber disputed this characterization declaring that:

"the call for regulation of DTC genetic testing is not some paternalistic denial of individual access to one's own genome, nor some blind adherence to medical tradition. We believe everyone should have access to their genome and be able to sequence it if they choose. What we do feel strongly about, however, is that people shouldn't be misled about the significance of that information and that people should be able to be assured that the claims that are made are accurate and that their privacy will be protected."

He further criticized current industry practice and demanded meaningful regulation:

"(E)very player in the industry makes both explicit and implicit claims that knowing your genetic information will demonstrably improve your health; with few exceptions science is still progressing towards being able to make that case."

Many on the Panel declared that DTC testing was of little utility and outright harmful without the involvement of a physician. "I want any test that has a high predictor that a person will get a disease, I want that filtered through a physician," said panelist Valerie Ng, MD, PhD, a pathologist at the University of San Francisco in Oakland, Calif.

"I would suggest that we are not ready yet to put this completely in the consumer's hands," said panelist Joann Boughman of the American Society of Human Genetics. "Each test is complex and when you have each provider doing slightly different tests, it complicates it even more."

While the FDA is not mandated to follow the recommendations of the Panel, it usually gives such recommendations much deference. The agency did make clear during the hearing that regulation of DTC testing is inevitable and that the agency was fairly far along in terms of thinking about the multiple issues implicated in DTC regulation.

Alberto Gutierrez, director of the FDA's Office of In Vitro Diagnostics stated "We're not going to be able to take one approach to all types of tests," Gutierrez said. "Some may not require a doctor at all and some might require that a qualified health professional be involved, and some might involve the doctor to order the test."

Gutierrez and other agency officials offered no additional details as to what form regulation might take and what their timeline was for implementing it.

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The Gene Myths series features incisive, succinct articles by leading scientists disputing the exaggerations and misrepresentations of the power of genes.
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The Gene Myths series features incisive, succinct articles by leading scientists disputing the exaggerations and misrepresentations of the power of genes.
View Project