Healthcare currently stands at an inflection point that the industry has never before faced. The human genome has been sequenced and we are seeing an explosion of knowledge and technology applicable to patient care – this is the promise of precision medicine. To realize that promise, we need to integrate new knowledge and technology into the clinic so that precision medicine can become an innovative reality—but continue to maintain a high level of accuracy and safety.  Questions have arisen around regulatory oversight of these new services, as well as laboratory testing procedures that have been crucial to patient care for many years: how should these tests be regulated moving forward?

Lab Developed Procedures (LDPs, also called LDTs) are tests optimized and performed in a single lab for use in measuring or detecting a wide array of substances such as proteins, chemical compounds or DNA.  These procedures include microscopy, gram stains and hundreds of routine lab procedures, and now may also include new tests used for precision medicine, such as next generation sequencing.   All labs perform LDPs, regulated under the Clinical Laboratory Improvement Amendments (CLIA), which sets national standards for clinical laboratory operations and also defines the details of ongoing laboratory quality and test performance.  In contrast, the Food and Drug Administration (FDA) reviews and certifies kits manufactured for sale and performance in labs across the US—labs use these reagents too.

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Patients benefit from laboratory medicine and LDPs throughout their life. This benefit has recently been most evident in oncology with the incorporation of mutation testing on the DNA of tumors, and its impact in defining which patient will benefit most from which new targeted therapy—every cancer patient should have access to the testing needed to best guide his or her treatment. Unfortunately, the FDA approval process is cumbersome; the investment needed limits the tests submitted to relatively few where it is clear that the costs can be recovered in the market.  The lengthy process has caused some tests to be obsolete by the time they are approved. Having served on an FDA panel as an expert, I can attest that there is value in this for in vitro diagnostics (IVDs), and I also see great value in the less burdensome CLIA oversight of labs for LDPs , which is better suited to the rapid evolution of lab testing we need to support precision medicine today.

I recently testified at a hearing of the U.S. Senate Committee on Health, Education, Labor and Pensions on Laboratory Testing in the Era of Precision Medicine. Joined by colleagues in academia, industry advocates and clinical practitioners, we discussed implications of proposals and pending legislation related to additional regulatory oversight that would position governing bodies, including the FDA, to oversee and approve new LDPs.

Some of the current recommendations are based on misunderstanding of the laboratory and the professionals running it. It is often thought that when “lab tests” are done to reach a diagnosis, they are done with a kit or on a machine, but in fact, many are procedures performed under CLIA and with direct involvement of a laboratory professional or physician with years of specialty training after medical school.

There are many examples of critical lab tests in cancer and infectious disease that have been performed for years, even decades, using LDPs regulated by CLIA.  These tests have clearly improved our care of patients by examining DNA, thus providing faster and more accurate results. Many of these tests were developed in labs in the 1990s, and have been used successfully for decades, with CLIA-based programs to ensure that results are accurate and reproducible amongst the labs performing the test.  In some cases, FDA-approved versions of the test were developed much later, based on the body of knowledge and literature produced by the labs, and ended up being more expensive to purchase and perform.  Often, these tests do not fully serve the needs of the labs, physicians and patients. Cancer patients tested with FDA-approved test kits do not get the full set of results needed, according to national consensus treatment guidelines. Precision medicine is evolving rapidly, and so must the testing needed to support it!

Labs have a long history of success operating under CLIA, which allows a greater flexibility and faster responsiveness to new tests needed to improve patient care. It would be beneficial to expand the scope of this process and include defined standards and reference materials for labs to use to demonstrate their performance and quality before offering a new clinical test. Getting a correct, complete and timely result is the most important laboratory outcome. Labs currently have the infrastructure to support even an expanded CLIA compliance program without extensive additional expense.  The FDA has an important role in the lab as well, but one limited to those products that are truly IVD test kits and instrumentation that are designed to work in multiple labs and settings across the country. 

Policymakers and researchers need to pay close attention to pending legislation and come together to collaborate and agree on how to ensure safety and accuracy of lab tests and LDPs in order to advance care but not hinder the evolution of precision medicine and the great advantages it will bring to patients. Implications of current proposals could greatly change the pace of innovation and healthcare delivery, which would be detrimental to patient care and outcomes.

Karen Kaul, MD, PhD is the Chair of the Department of Pathology and Laboratory Medicine and Duckworth Family Chair at NorthShore University HealthSystem. She also serves as a Clinical Professor of Pathology with the University of Chicago Pritzker School of Medicine. Dr. Kaul served as a witness at the U.S. Senate Committee on Health, Education, Labor and Pensions hearing on Laboratory Testing in the Era of Precision Medicine on Sept. 20, 2016; her complete written testimony can be read here.


The views expressed by authors are their own and not the views of The Hill.