Genetics & Genomics
What is the Difference Between Genetics & Genomics?
Genetic tests are intended to detect variants or mutations in the DNA of specific genes in individuals. Though many genetic tests have intended uses that fall outside of FDA’s jurisdiction, such as for ancestry, genetic tests are used widely to identify the risk, or likelihood, of developing diseases or health conditions, including certain cancers. These tests can be subject to FDA jurisdiction as devices like other IVDs.
Many current genomic tests are intended to identify DNA alterations or mutations in the tumor of a cancer patient. These alterations or mutations may indicate why a patient’s cancer “behaves” the way it does. If an alteration or mutation matches a known abnormality, an oncologist may recommend a targeted or precise treatment plan that differs from conventional treatment plans. Such personalized medicine is being combined with or incorporated into digital health technologies.
Genomics also refers to large-scale genetic tests, i.e., genome-scale tests, which identify large numbers of genetic variants through next-generation sequencing (NGS). NGS offers an efficient means to perform whole-genome and whole-exome sequencing. As with other personalized medicine tools, FDA’s regulatory system was not designed to review, clear, approve, or otherwise respond to these technologies at the rate at which they develop and change. FDA has proposed alternative regulatory models for some genetic and genomic tests, including those that are offered direct-to-consumer (DTC).
FDA Regulation of Direct-to-Consumer Genetic Testing
Many genetic and some genomic tests (for whole-genome sequencing) are currently offered DTC. These tests can be ordered by a consumer, usually via the Internet, and performed on specimens that the consumers collect in the privacy of their own home, i.e., a saliva sample. FDA has required premarket clearance or approval for some DTC tests while exercising enforcement discretion for many others. Factors that have historically appeared to affect FDA’s enforcement decisions are whether the tests provide information about a predisposition for certain diseases and conditions, i.e., health risks, rather than providing a diagnosis of a disease or condition; and whether physicians and genetic counselors are involved in the ordering and reporting process.
In cases where FDA has not exercised enforcement discretion, the tests have been subject to premarket review. On November 6, 2017, FDA’s then Commissioner announced the agency’s Notice proposing an alternative regulatory model for genetic health risk (GHR) tests. Under this proposal, a GHR test developer/manufacturer would undergo a “one-time review” and obtain a premarket review for one test. After that, the developer/manufacturer’s additional GHR tests could enter the market without premarket review. FDA stated this approach is similar to the Pre-Certification Program proposed for digital health technologies. FDA’s GHR proposal has not been finalized and implemented.
How Will Your Genetic or Genomic Test be Regulated?
Whether your genetic or genomic test is subject to regulation by FDA, falls under the agency’s current enforcement discretion, or is a future candidate for one of FDA’s proposed regulatory frameworks depends on a variety of factors about your test and the agency’s policies. Any of these factors may change. The counsel at Penn Avenue Law & Policy brings deep experience and expertise to developing regulatory strategies for genetic and genomic tests, including DTCs, and digital health platforms.