Rapid exome sequencing has a high clinical utility within a consanguineous population, a new study appearing in Genome Medicine has found. Previous analyses had showed its utility in neonatal and pediatric intensive care units, though the groups studies were outbred population. Researchers from the King Faisal Specialist Hospital and Research Center in Saudi Arabia examined the utility of rapid exome sequencing in 189 cases within a highly consanguineous population, which they note may have a higher rate of rare or novel variants. In their study, pathogenic or likely pathogenic genetic variants were found in 80, or 42 percent, of cases. For those with such positive molecular findings, clinical utility was reported for 79 cases, affecting management decisions, prognostication, or reproductive counseling. The researchers note that, in this cohort, reproductive counseling is a key part of clinical utility, as most of the variants uncovered were autosomal recessive. "This study shows a high clinical utility of [rapid exome sequencing] in our consanguineous population using a comparable definition to previous studies in outbred populations," the team writes in their paper.
Analysis Finds Clinical Utility of Rapid Exome Sequencing in Consanguineous Population
Jun 22, 2023