NCD Letter to FDA on Genetic Testing

Norman Sharpless, M.D.
Acting Commissioner
Food & Drug Administration
U.S. Department of Health and Human Services
10903 New Hampshire Avenue, WO1/2217
Silver Spring, Maryland 20993

Jeffrey Shuren, M.D., J.D.
Director
Center for Devices and Radiological Health
Food & Drug Administration
U.S. Department of Health and Human Services
10903 New Hampshire Avenue, WO66/5442
Silver Spring, Maryland 20993

Anna Abram
Deputy Commissioner for Policy, Legislation, and International Affairs
Food & Drug Administration
U.S. Department of Health and Human Services
10903 New Hampshire Avenue, WO1/2335
Silver Spring, Maryland 20993-0002

Dear Dr. Sharpless, Dr. Shuren, and Ms. Abram:

The National Council on Disability (NCD) is an independent federal agency charged with advising the President, Congress, and other federal agencies on disability policy and to advance the goals of equal opportunity, full participation, independent living, and economic self-sufficiency for people with disabilities. On behalf of NCD, I write to inform you that we have submitted a report to the President and Congress titled Genetic Testing and the Rush to Perfection,[1 which examines the impact of genetic testing on people with disabilities and expresses concern over the Food and Drug Administration’s continued policy not to review laboratory developed tests (LDTs) – in particular - Non-Invasive Prenatal Screening (NIPS), which indicate a fetus or embryo’s chances of having a genetic condition.

NCD’s findings and concerns reinforce the well-known concerns of stakeholders, and even the FDA itself, regarding direct-to-consumer genetic tests whose claims have not  been reviewed by the FDA.[2 Because of the FDA’s policy to generally not review LDTs, NIPS typically do not have the FDA’s independent assurance of analytical validity or clinical validity of test results, leaving women to make decisions based on possibly invalid results.

This problem grows more important as prenatal and adult genetic testing laboratories have exploded in terms of number and sales in the United States, with very little regulation or oversight other than the Centers for Medicare and Medicaid Services (CMS) ensuring that the laboratories developing such tests function properly and that the tests correctly measure the DNA components claimed. In fact, over the last ten years, the industry has achieved technical leaps and bounds, developed sophisticated direct-to-market advertising materials and informational websites that market directly to women.

The FDA’s enforcement discretion regarding LDTs means that there is no federal oversight or consequences when a company claims on its website that genetic testing “helps make healthy pregnancies possible.” Genetic testing is not a maternity vitamin. There is no direct scientific or statistically established causative link between genetic testing and healthy pregnancies. When a company asserts that “carrier screening is recommended for all individuals who are pregnant or planning a pregnancy” it not only neglects to say who is doing the recommending, it also implies to consumers that a carrier screen will not merely identify chromosomes and microdeletions in one’s DNA but can positively identify the health outcomes that will arise out of that genetic inheritance.

Many stakeholders, in addition to FDA, have indicated that there is a public health need for greater oversight of LDTs. NCD recommends that the FDA end its policy of enforcement discretion and regulate NIPS to establish and enforce standards for the accuracy of any claims made by prenatal genetic testing entities. We also recommend that the FDA proactively work with the Federal Trade Commission (FTC) to oversee marketing by genetic testing entities.

NCD is available to share further information with you regarding the impact of NIPS on the people with disabilities. Should you have questions about this report or letter, or wish to discuss, please contact Joan Durocher, General Counsel and Director of Policy, or Ana Torres-Davis, Attorney-Advisor, at jdurocher@ncd.gov or atorresdavis@ncd.gov.

Respectfully,

Neil Romano
Chairman

1 </assets/uploads/docs/ncd-genetic-testing-report-508.pdf>

2 Discussion Paper on Laboratory Developed Tests (LDTs)(January 13, 2017). Citing seven FDA documents, including congressional testimony from the FDA, that consistently assert that there is a public health need for greater FDA oversight of LDTs.  “Without more active oversight, similarly problematic LDTs will continue to be offered in the future.” https://www.fda.gov/media/102367/download