Licensure in the Era of Genomic Medicine

The impact of genomics on medicine and society is the subject of daily news headlines, but from the perspective of how medicine is regulated in the United States, it is undecided whether genomic medicine is the practice of medicine. In the United States, local citizens, frequently through a State Medical Board, determine what activities are the practice of medicine. These acts, which are deemed the practice of medicine, are regulated through state medical practice acts and licensure. Genomic medicine is the emerging clinical practice of analysis and interpretation of dozens to thousands of genetic alterations in a patient's blood or tissue specimen. This practice has been enabled by massively parallel sequencing, which is an inexpensive and efficient technology for analyzing large amounts of DNA. Genomic medicine has demonstrated clinical utility in the diagnosis and management of inherited diseases as well as the profiling of mutations for targeted treatment of cancers. As genomic medicine continues to evolve and technologies improve, the clear challenge for the foreseeable future will be the interpretation of the clinical significance of specific genetic alterations and the integration of test results into the care of patients. The interpretation of genomic data is critical for diagnosing disease and informing therapeutic strategies. If genomic medicine is determined to be the practice of medicine, then its practitioners may be subject to state medical licensure requirements.

In the United States, the practice of medicine is considered a licensed privilege granted by citizens through state law and regulation to professionals with medical degrees (MD/DO). Applying this strict definition could lead to limitations of workforce and expertise, as many current professionals who interpret clinical genomic tests (whole genome sequencing [WGS], exome sequencing, and/or gene panels) are not licensed to practice medicine. Many current practitioners of genomic medicine do not possess medical degrees or medical licensure, but rather are doctorate-level scientists with board certification recognized by the US Centers for Medicare & Medicaid Services (CMS). The CMS, under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) statute (42 CFR 493.1443 (b)(3)(i)), recognizes specific board certifications for clinical laboratory directors.¹  The role of these nonphysician laboratory professionals in directing high-quality clinical laboratories is well established. In addition, specific disciplines of the clinical laboratory, including chemistry, cytogenetics, genetics, and microbiology, have nonphysician laboratory directors who are certified by professional board organizations and not only serve as directors but also perform expert interpretation of laboratory results within each of these disciplines. However, as has been recently articulated in the movement for state licensure of laboratory technologists, board certification does not equal licensure.²  Board certification for physicians, doctorate-level laboratory professionals, and medical technologists is an earned recognition of educational and professional competency.¹  In contrast, licensure is a legal privilege to perform a defined occupation. Currently, few states have licensure requirements for clinical laboratory directors.

The clinical use of WGS in healthy individuals has additional challenges in both the technical performance and interpretation of data. Specifically, there is “much uncertainty remaining in classification of potentially pathogenic genetic variants.” ³ In addition, the professional judgment required for clinical genomics has been previously discussed.⁴  Indeed, there is a recommendation for “professional knowledge and expert, careful planning” in the interpretation of WGS.⁴  Professional judgment dependent on the clinical context of the patient is described as “essential” for proper interpretation.⁴  With regard to oncology, there are now dozens of clinical laboratories in the United States that provide clinical genomic testing of cancers. Two examples are Caris Life Sciences (Dallas, Texas) and Foundation Medicine (Cambridge, Massachusetts). Importantly, both of these companies offer clinical genomic reports that, in addition to listing mutations, offer medical recommendations (or advice, depending on one's perspective). Both companies list therapeutic agents matched to the tumor genotype as well as a list of clinical trials based on the patient's specific mutation data. The professional medical judgment and clinical knowledge necessary in WGS and cancer genomics may suggest that genomic medicine is the practice of medicine as defined at the state level.

In the United States, licensure for the practice of medicine is a state-by-state affair. A recent survey of interstate licensure requirements with a focus on pathology emphasizes the heterogeneous requirements between states.⁵  A key finding in this survey is that, for all states, the medical licensure requirement for the analysis of biological specimens (eg, blood, tissue) is based on the geographic location of a patient at the time the specimen is obtained. In other words, if a patient has a biopsy performed in Texas, but the biopsy is examined by a pathologist in Oklahoma, the Oklahoma pathologist must have a Texas medical license in order to interpret the biopsy. By modeling genomic medicine licensure after surgical pathology, practitioners of genomic medicine would be required to have state medical licensure from most states that they receive patient samples. With the growth of interstate health networks and national reference laboratories, the need for multistate or interstate licensure could become more common not only for surgical pathology, but also for genomic medicine.

More than any other medical specialty, pathologists (through training and practice) become experts in the clinical and technical aspects of the clinical laboratory. This is especially pertinent for genomic medicine. The proper interpretation of genomic analysis involves a sophisticated understanding of clinical medicine, genetics, informatics, and complex analytic technologies. In addition, pathologists' experience using a variety of modalities to derive a tissue diagnosis is well suited for integrating mutational analysis into medical recommendations. In a sense, genomic medicine represents a natural extension of the current practice of pathology.

Genomic medicine is in its infancy. Significant challenges remain in the technical performance and interpretation of genomic tests. Determining whether or not genomic testing in the clinic represents the practice of medicine will have important implications on licensure requirements, workforce availability, and future training programs.