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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. | LitMetric

AI Article Synopsis

  • Rare diseases, often genetic, were studied in 500 patients using exome sequencing (ES), resulting in a diagnostic yield of 31.6% with 164 primary findings.
  • The majority of findings were from autosomal dominant conditions (61.6%), with significant rates of successful diagnosis in younger children and those with specific conditions like gastrointestinal diseases.
  • Notably, 15.6% of patients had potential for improved care through targeted therapies, and secondary findings in 37 patients could increase life expectancy by over 123 years for the cohort combined.

Article Abstract

Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most of the findings (61.6%) corresponded to autosomal dominant conditions, followed by autosomal recessive (25.6%) and X-linked (12.8%) conditions. These patients harbored 195 variants, among which 43.6% are novel in the literature. The rate of molecular diagnosis was considerably higher for prenatal samples (67%; 4/6), younger children (44%; 24/55), consanguinity (50%; 3/6), gastrointestinal/liver disease (44%; 16/36) and syndromic/malformative conditions (41%; 72/175). For 15.6% of the cohort patients, we observed a direct potential for the redirection of care with targeted therapy, tumor screening, medication adjustment and monitoring for disease-specific complications. Secondary findings were reported in 37 patients (7.4%). Based on cost-effectiveness studies in the literature, we speculate that the reports of secondary findings may influence an increase of 123.2 years in the life expectancy for our cohort, or 0.246 years/cohort patient. ES is a powerful method to identify the molecular bases of monogenic disorders and redirect clinical care.

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http://dx.doi.org/10.1002/ajmg.c.31860DOI Listing

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