Regulatory/Legal Policy

Regulation of genomic tests is both a public health issue and, ultimately, an economic one. Physicians and patients alike look to government regulators to assure them that the tests have been carefully scrutinized for their safety, efficacy and intrinsic value.

The development and use of genetic and genomic testing is impacted by a range of policies and legislation regarding laboratory and test evaluation (regulatory oversight), reimbursement, research support for test validation and technology development, and other areas. Policies may be issued by professional organizations, state or federal agencies, and scientific advisory bodies. Several groups monitor and report on policies related to genetics, genomics and precision medicine.

The Duke Scipol monitors developments in several fields, including genetics and genomics.

The Personalized Medicine Coalition represents innovators, scientists, patients, providers and payers, and promotes the understanding and adoption of personalized medicine, concepts, services and products to benefit patients and the health system.
See the Spring 2018 edition of PMC's newsletter, Personalized Medicine in Brief, which includes original essays, issue briefs and a book review that together demonstrate how the personalized medicine landscape is rapidly evolving.

Regulation of genomic tests is both a public health issue and, ultimately, an economic issue. Physicians and patients alike look to government regulators to assure them that the tests have been carefully scrutinized for their safety, efficacy and intrinsic value.

Currently, two federal organizations are in charge of regulating genetic tests. A small percentage of genetic tests are sold as diagnostic devices, meaning that a company makes and sells genetic test kits to a laboratory for testing, and these are regulated by the FDA’s office of In Vitro Diagnostics. These include In Vitro companion diagnostic devices, that is a device or test that provides information that is essential for the safe and effective use of a corresponding therapeutic product. Prior to marketing the drug, the analytical validity of the device must be assessed, but in cases where clinical performance has not been well-established, the clinical validity is examined as well. The specific degree of regulation of medical devices is currently tailored to their level of risk: class I (low risk, few regulatory controls), class II (moderate risk) and class III (high risk, more controls, including submission of a premarket approval application). A recently-produced guidance from the FDA, “Factors to Consider When Making Benefit-Risk Determinations in Medical Device Product Availability, Compliance, and Enforcement Decisions" clarifies the principal factors it considers when making benefit-risk determinations on medical devices.

Most genetic tests today are developed and offered by individual labs as Laboratory Developed Tests (LDTs) and these laboratories are overseen by the Centers for Medicare and Medicaid Services (CMS). CMS is primarily concerned with the testing laboratory’s compliance with Clinical Laboratory Improvement Amendments (CLIA) regulations in their testing procedures. For years, the FDA has claimed enforcement discretion and opted not to regulate LDTs unless they were deemed high risk. However, the selective approach to regulate only a subset of high-risk LDTs has led to more confusion and created an uneven playing field. Moreover, the rise of direct-to-consumer genetic testing companies, those that bypass physicians and market their services directly to patients outside the medical setting, has brought regulatory oversight of genomic tests in general to the forefront. Based on a series of recommendations put forth by the Secretary’s Advisory Committee on Genomics, Health, and Society (SACGHS) to enhance oversight, the FDA has responded with a 2010 notice stating that they intend to begin actively regulating not just high-risk tests, but all LDTs. Regulation of genomic tests is a moving target that needs to strike a balance between commercial interests and patient safety in order to move genomic medicine forward.

In March 2017, the Diagnostic Accuracy and Innovation Act (DAIA) was publicly released by U.S. Representatives Larry Bucshon (R-IN) and Diana DeGette (D-CO). The draft legislation addresses the gap in federal oversight of the clinical validity of in vitro clinical tests (IVCT) (or laboratory-developed tests (LDTs)), which includes many genetic and genomic-based assays. The draft dates back to a stakeholder working group meeting on LDT oversight with Congressional staff and lawmakers in 2015. Several stakeholders in the diagnostics industry, the umbrella organization Personalized Medicine Coalition, and FDA have been supportive of DAIA. The need for oversight of LDTs has been debated for more than a decade without any effective resolutions. In 2017, the FDA released a white paper, taking a step back from previous proposals on LDT regulation. The DAIA proposed a three-pronged approach to oversight: 1) the Food and Drug Administration (FDA) would oversee development and validation an IVCTs; 2) the Centers for Medicare & Medicaid Services (CMS) would oversee laboratory operations and test performance in CLIA-certified labs; and 3) states will have jurisprudence regarding teast interpretation of results by a clinical provider. More recently, the FDA suggested the development of a precertification program for in vitro diagnostics and LDTs for its role outlined in DAIA. While discussions continue about the draft legislation, the push for a straightforward, risk-based regulatory strategy may finally be realized through the DAIA.

The National Human Genome Research Institute has developed a primer on the regulation of genetic tests.