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FDA approved Publicly Available Genetic Variant Database is Now a Reality
Reepa Agrawal
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FDA approved Publicly Available Genetic Variant Database is Now a Reality 27 Dec, 2018

The approval by FDA for openly accessible genetic variant database is being seen as a landmark move by both clinicians and diagnosticians which was definitely long overdue. This is going to help in interpreting a battery of genetic tests including next generation sequencing.

The Clinical Genome Research (ClinGen) genetic variant database is now approved and can be accessed openly through ClinVar, NIH-funded archive. There is a strong partnership between ClinGen and ClinVar. Basically when a genetic test is performed like next generation sequencing and a number of genetic mutations are found, it is sometimes difficult to interpret the actual clinical validity to label the said mutations as pathogenic in case they are new mutations in absence of a reliable genetic variant database. This database has the information about the genotype-phenotype relationship which is required when interpreting the genetic tests. Prior to this also many different genomic groups who perform these tests had their own databases but this is the first time in the history of precision medicine that this critical information will be combined and openly shared.

FDA approval comes after their understanding of ClinGen standard operating procedures and policies. This now helps the clinician in understanding the pathogenic mutation. Further targeted therapy may develop in the future for this particular mutation.

Under the recognized guidelines, new data can be added or modified. There is tremendous amount of research happening in genomic medicine. This kind of registry is going to help take genomic knowledge into clinical practice and ultimately improved patient care.



Source:

USA FDA. https://www.fda.gov/
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