FDA Introduces Initiatives to Ease Development of Genetic Tests

According to a recent announcement, the FDA has introduced new guidelines in order to ease development of genetic and genomic-based tests. The guidelines were designed to speed up the process for submitting investigational cancer drugs and biological products

According to a recent announcement, the FDA has introduced new guidelines in order to ease development of genetic and genomic-based tests. The guidelines were designed to speed up the process for submitting investigational cancer drugs and biological products.

The finalized guidances are expected to spur “efficient development of a novel technology that scans a person’s DNA to diagnose genetic diseases and guide medical treatments,” the agency said.1

The agency is calling the first guidance the Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics, which allows test developers to rely on clinical evidence from FDA-recognized public databases to support clinical claims. This will help in proving the accurate clinical evaluation of genomic test results.

The use of FDA-recognized databases provides an efficient path for marketing clearance or approval of a new test, the agency said.

“As disease detection technologies rapidly evolve, so too must the FDA’s approach to reviewing these new innovations,” Scott Gottlieb, MD, FDA Commissioner, said. “The new policies issued today provide a modern and flexible framework to generate data needed to support the FDA’s review of NGS-based tests, and give developers new tools to support the efficient development and validation of these technologies.”

The second guidance, titled, Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS)—Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases, can be used in the process of diagnosing individuals with suspected genetic diseases by sharing recommendations for designing, developing, and validating the NGS-based tests. Data that the FDA looks for specifically in premarket submissions is explained in this guidance to determine a test’s analytical validity. This includes how well the test can detect presence or absence of particular genomic changes.2

A draft guidance, titled, Investigational In Vitro Diagnostics in Oncology Trials: Streamlined Submission Process for Study Risk Determination, was also issued by the FDA. It explains the optional streamlined submission process that oncology trial sponsors could use to determine any significant risks of an investigational IVD in a trial of investigational cancer drug or biological products, or if it is exempt from further premarket review.

To ensure the safe and effective use of the corresponding therapy, many cancer treatments target specific biomarkers that require a companion diagnostic, a type of IVD. IVDs are used to identify patients with certain biomarkers that are more likely to respond to treatment. Investigational IVDs and investigational drugs and biological products have different regulatory requirements. Extensive coordination after different FDA product centers are required for determining whether an investigational IVD is a significant or nonsignificant risk to patients.

Outlining circumstances under which sponsors may be able to include information about an investigational IVD in the Investigational New Drug (IND) application submission to either the Center for Drug Evaluation and Research (CDER) or Center for Biologics Evaluation and Research (CBER) should ease the burden left on sponsors or FDA staff. The premarket information related to the investigational drug and the investigational IVD would be contained in a single IND application.

Consolidation of this information on both the investigational drug and device in the same application could create a more efficient review. This will help in establishing a stronger scientific relationship between the drug and the diagnostic being used to select patients for treatment. CDER or CBER could then coordinate with the FDA’s Center for Devices and Radiological Health to determine whether if there is significant risk, nonsignificant risk, or an exemption with the use of the investigational IVD in the trial.

Modern cancer treatment continue to target specific genetic features of disease, Gottlieb said. IVDs are necessary for matching patients with appropriate treatments. Streamlining the FDA"s review of cancer diagnostics is the result of this change in cancer research.

“This cross-center approach to streamlining the process for determining the review requirements for diagnostics used in drug trials is an example of the Oncology Center of Excellence’s ongoing efforts to expedite the availability of safe and effective cancer treatments for patients,” Gottlieb noted.


  1. DA finalizes guidances to accelerate the development of reliable, beneficial next generation sequencing-based tests. Accessed April 12, 2018. www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm604462.htm.
  2. FDA In Brief: FDA advances policy to make co-development of drugs and diagnostics in cancer trials more efficient. Accessed April 12, 2018. www.fda.gov/NewsEvents/Newsroom/FDAInBrief/ucm604469.htm.