Genetic diagnosis of rare diseases up with genome sequencing

Medical Xpress December 3, 2021

(HealthDay)—Use of genomic sequencing yields an increase in genomic diagnoses across a spectrum of rare diseases, according to a study published in the Nov. 11 issue of the New England Journal of Medicine.

Damian Smedley, Ph.D., from Genomics England in London, and colleagues conducted a pilot study involving 4,660 participants from 2,183 families who had 161 disorders covering a broad spectrum of rare diseases.

The researchers observed variation in diagnostic yields among family structures, with the highest yield in family trios (both parents and a proband) and families with larger pedigrees. Disorders likely to have a monogenic cause had much higher diagnostic yields than those likely to have a complex cause...