Reanalysis of genome data doubles rare disease diagnoses for Welsh patients
The Wales Genomic Medicine Centre enrolled 438 people from 154 families who had already had genetic testing with no diagnosis. First-pass sequencing solved 20.8 percent of families, 32 of 154. Reanalysis with updated variant prioritisation tools raised that to 42.2 percent, or 65 of 154, an improvement of 103 percent, according to the European Journal of Human Genetics paper. RNA analysis was used to clarify variants of uncertain significance in five genes.
Families whose earlier genetic tests found nothing may get answers when their genome data is reanalysed, the authors say.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].