Healthcare is currently making a historic transition towards personalized medicine, a new and emerging healthcare model for treatment and prevention strategies tailored towards the client’s specific genetic variation, lifestyle, and environment. Among the tools used in this model, genomic sequencing is one that is quintessential to the creation and effectiveness of these strategic plans.
Breakthroughs in science and technology allow laboratories to sequence an entire human genome within 24 hours and at a reasonably affordable cost. Analytical and descriptive reports can be generated based upon the client’s genomic makeup, big data statistics, and current medical knowledge in order to inform the client of their disease risks, recommended prevention strategies, effective treatments, etc. This allows personalized medicine to transform the healthcare experience from one that is mass-produced to a process through which individual differences and needs are accounted for. Experts believe that genomic medicine will save costs and improve quality of care.
Current Test Regulation
Two federal agencies have the primary authority to regulate genetic tests (including genomic sequencing tests): the Food and Drug Administration (FDA) and the Centers for Medicare and Medicaid Services (CMS). The Federal Trade Commission (FTC) has also been involved in regulating genetic testing companies with false advertising problems, but this agency currently plays a more minor role in the space of test regulation.
CMS regulates clinical laboratories, including laboratories conducting clinical genomic sequencing, through the Clinical Laboratory Improvement Amendments (CLIA) of 1988. The CLIA requires laboratories to pass a certification process before conducting clinical testing. The objective of CLIA is to determine clinical testing quality by verifying the testing procedure and by checking the qualifications of the technicians conducting the tests. Specifically, CMS is concerned with the analytical validity of genetic tests including genomic sequencing. The central inquiries to analytical validity are 1) “how well the test predicts the presence or absence of a particular gene or genetic change,” and 2) “the ability of the test consistently and accurately detect whether a specific genetic variant is present or absent.”
However, despite CMS’ regulation of the analytical validity of genomic sequencing tests, there is no federal supervision of the clinical validity of the majority of tests, i.e. “how well the genetic variant being analyzed is related to the presence, absence, or risk of a specific disease.” Until recent years, the FDA has chosen to apply “enforcement discretion” to these tests, meaning that when it has the authority to regulate tests, it decides not to use this authority. Interestingly, after many years of non-enforcement, the FDA finally released a plan to regulate “laboratory-developed tests” (LDTs for short), including genomic sequencing. Currently, the FDA’s pre-market approval process involves both analytical and clinical validation.
Genomic sequencing brings up regulatory issues pertaining to insufficient product regulation, genetic privacy, and ethics, for example.
First, neither the FDA nor the CMS regulates the clinical utility of genomic sequencing products, i.e. “whether the test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to patients and their providers.” This means that in the current market, the client has very little regulation to rely on in terms of the specific efficiency of the tests that they pay to go through.
Genetic privacy is another hotly discussed issue relating to genome sequencing. Many service providers and research centers hope to aggregate genomic data and track the treatment and medical history of the clients to further strengthen the big data that they use to produce effective treatment and prevention strategies. However, the sharing of genetic information produces risks associated with the misuse of that information by other parties. Currently, federal regulation such as the Genetic Information Non-discrimination Act (GINA) and Health Insurance Portability and Accountability Act (HIPAA) protect patient privacy by restricting the sharing of patients’ medical information and further prevents discriminatory use of such information by health insurers and employers.
Finally, whenever it comes to fiddling with genes, ethics always comes to the forefront of the debate. Many fear that further research into and increasingly commonplace use of genome sequencing could lead to look-alike products of eugenics: that parents would be able to choose strategic traits in their children, “undermining unconditional parental love, and causing parents to be less accepting of flaws in their children.” Some regulations around prenatal genetic sequencing and abortion aim to address this issue. However, with the ever-emerging new services, the regulations may not be able to react or adapt quickly enough to new entries into loopholes.
Personalized medicine relies heavily on genomic sequencing technologies, and there are undoubtedly countless benefits, both social and private, to the development and use of these technologies in healthcare. Nonetheless, it is important to realize that personalized medicine and genomic sequencing still face significant regulatory challenges, especially given the hard-to-keep-up-with speed development of the technology in the field. The key may lie within creating a more comprehensive and readily-adaptable regulatory system to achieve a balance between regulating genomic sequencing (e.g. potentially increasing the regulatory strength on clinical validity of tests) and allowing sufficient space for personalized medicine to flourish.