The FDA and Genomic Tests — Getting Regulation Right

Excerpt mentioning ClinGen:   After a variant is detected, clinical validity speaks to its effect on health — that is, whether there is a strong, well-validated association between having the variant and having a particular disease or predisposition.16 The FDA discussion paper on next-generation sequencing proposes to assess the clinical validity of a test by referring to “high quality curated genetic databases” such as those “curated by NIH’s ClinGen program and deposited in ClinVar” and other “FDA-recognized evidence-based assessments of the clinical significance of gene variants,” including databases created by disease advocacy organizations.

Achieving the right scale of data resources for this task will require capturing sequencing data from both research and clinical settings, with the latter destined to provide an ever-growing share of the available data as clinical translation proceeds. The National Institutes of Health (NIH) data-deposit policies, which feed data into ClinGen and ClinVar, are binding only for data generated with NIH funds and generally include only variants of interest, not all variants identified in a research participant. Insurer-funded commercial clinical laboratories are not bound by the NIH data-deposit requirements, so their data may not be captured in ClinGen or ClinVar, although many do contribute. Neither research laboratories nor clinical laboratories currently have access to the deep phenotypes required.