Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
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Shickh Salma, Gutierrez Salazar Mariana, Zakoor Kathleen-Rose, Lázaro Conxi, Gu Jessica, Goltz Jamie, Kleinman Dakota, Noor Abdul, Khalouei Sam, Mighton Chloe, Reble Emma, Kodida Rita, Bombard Yvonne, DiTroia Stephanie, Baxter Samantha, Watkins Nicholas, Care Melanie, Adler Arnon, Horsburgh Sheri, Morar Oana, Murphy Jillian, Nevay Dayna-Lynn, Szybowska Marta, Aronson Melyssa, Panchal Seema, Godoy Ruth, Holter Spring, Randall Armel Susan, Semotiuk Kara, Elser Christine, Kim Raymond H, Chitayat David, So Joyce, Faghfoury Hanna, Silver Josh, Morel Chantal F, Lerner-Ellis Jordan
Аннотация
METHODS: Patients from adult and cancer genetics clinics across Toronto, Ontario, Canada were recruited into a prospective cohort study evaluating the diagnostic utility of exome and genome sequencing in adults. Eligible patients were ≥18 years of age and suspected of having a hereditary disorder but had received previous uninformative genetic test results. In total, we examined the diagnostic utility of exome and genome sequencing in 47 probands and 34 of their relatives who consented to participate and underwent exome or genome sequencing.
RESULTS: Overall, 17% (8/47) of probands had a pathogenic or likely pathogenic variant identified in a gene associated with their primary indication for testing. The diagnostic yield for patients with a cancer history was similar to the yield for patients with a non-cancer history (4/18 (22%) vs 4/29 (14%)). An additional 24 probands (51%) had an inconclusive result. Secondary findings were identified in 10 patients (21%); three had medically actionable results.
CONCLUSIONS: This study lends evidence to the diagnostic utility of exome or genome sequencing in an undiagnosed adult population. The significant increase in diagnostic yield warrants the use of this technology. The identification and communication of secondary findings may provide added value when using this testing modality as a first-line test.