Smart Diagnostic Regulation Will Follow the Science and Advance Innovation For Better Patient Care

The intersection of public policy and health care should bring together patient safety, access to cost effective, efficient medical care and scientific innovation that advances treatments and cures.

Instead, federal regulation is threatening to stifle development of new services, make medicine more expensive, reduce competition, and lead to the abandonment of vital services. These services are laboratory developed tests, developed by physicians, geneticists, PhD clinical scientists and other highly trained personnel. LDTs are at the core of diagnostic innovation and current patient care. Most people do not realize that there are more than 10,000 LDTs in daily use ranging from old tests like gram stains to identify bacteria, to newer tests like Ebola polymerase chain reaction. These tests most often are created in response to an unmet clinical need, or in order to incorporate the latest scientific and medical knowledge.

Utilizing LDTs, diagnostic breakthroughs are identifying diseases earlier and more precisely than ever before – whether for diabetes, infectious disease, cancers, screening for common diseases and diagnosing rare diseases. Armed with information at both the molecular and chemical level, physicians are now able to give patients access to better diagnosis and prognosis. Thus, LDTs enable more targeted therapies sooner, which inevitably lowers costs, increases the quality of care, and saves lives. Many LDTs are used in the standard of care.

Yet in November, the Food and Drug Administration released a report of twenty “case studies” on LDTs in an attempt to explain why the FDA wants to assert itself over LDTs and clinical laboratories, which are already regulated by the Centers for Medicare and Medicaid Services. Some of the case studies cited in the report are legitimate concerns, but some are completely mischaracterized. In alarming fashion, the FDA report used newspaper editorials and articles to make a case against highly accurate LDTs, as if news reports were valid scientific evidence, all while ignoring the current peer-reviewed medical literature.

By doing so, the agency is misrepresenting the research and practicing communities of physicians and laboratory scientists that are delivering clinical laboratory services to millions of patients every day through use of LDTs. While this short response cannot serve as an exhaustive rebuttal, the following is just one example of how the FDA is mischaracterizing LDTs in its report.

Consider the agency’s analysis of noninvasive prenatal testing (a.k.a. cell-free DNA testing or cfDNA).  Prenatal cfDNA testing is a technology that allows pregnant mothers to avoid other more invasive diagnostics, such as amniocentesis, which can risk miscarriages. The FDA cites newspaper articles and only two peer-reviewed studies to incorrectly claim that this test lacks clinical validity, when it could have referred to several clinical studies published and available since 2013 in peer reviewed journals such as Genetics in Medicine and the American Journal of Obstetrics and Gynecology. If the agency had actually examined the science, it would have found that cfDNA is an extremely valuable screening test for conditions such as Down syndrome where the detection rate is 98 percent and the false positive rate is phenomenally low at 1 in 500. This LDT creates an important alternative for high risk pregnancies, including for mothers who chose to have traditional prenatal screens and received abnormal results. For instance, the most commonly used prenatal screen, the “quad test,” has a false positive rate of 5 percent and a detection rate of under 85 percent. Mothers with positive quad tests can elect to have a cfDNA test instead of dangerous amniocentesis (which causes miscarriage in 1 in 200) to confirm the results.

Unwittingly, the FDA has raised a number of new red flags on itself casting further doubt on whether it has the expertise to properly assess the validity of current or future LDTs, a development that is very troubling to patient groups, and the medical and laboratory communities.

The FDA report on LDTs, perhaps intended to be a bombshell shattering the position of the lab community to maintain the regulatory framework under the CMS, in fact has exposed how unprepared the agency really is to assume oversight of LDT clinical validity.

Congress wisely continues to consider legislation to avoid the FDA’s own misguided approach, and seek reforms that will not harm patient access to high quality clinical laboratory tests.

Dr. Ashwood is the immediate past president and CEO of ARUP Laboratories, a professor of pathology at University of Utah, and has directed prenatal screening for over 30 years.

Morning Consult