Many diseases are related to genetic factors, but determining gene-disease relationships (GDRs) is tricky, especially for rare diseases with small sample sizes and limited genetic investigations. The ClinGen GDR Framework was established to help identify and catalog GDRs, but the tool may be lacking in rare conditions, according to a recently published paper in Human Mutation: Variations, Informatics, and Disease.
According to Jared Kaltwasser in the AJMC, “Clinicians and clinical scientists do have better tools, however, including the broader availability of whole genome/exome sequencing. Yet, this has also led to something of an inversion of the process of GDR establishment. Whereas clinicians might previously have begun by grouping patients based on phenotypic features and then performing sequencing, it is now possible to begin the process of establishing GDRs after genotyping has taken place—but that can be problematic, the authors said.”
To read more and learn about the GDR checklist proposed by the study’s authors, click here.
(Source: AJMC, March 20th, 2022)