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- Title
The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia.
- Authors
Elliott, Alison M.; du Souich, Christèle; Adam, Shelin; Dragojlovic, Nick; van Karnebeek, Clara; Nelson, Tanya N.; Lehman, Anna; The CAUSES Study; Lynd, Larry D.; Friedman, Jan M.
- Abstract
Abstract: Background: Access to clinical diagnostic genome‐wide sequencing (GWS; exome or whole genome sequencing) is limited in British Columbia. The establishment of a translational research initiative (CAUSES) to provide diagnostic genome‐wide sequencing for 500 children necessitated the development of a genomic consultation service, a clinical service established to provide consultation for physicians considering GWS for their pediatric patients throughout British Columbia. The Genomic Consultation Service provides patient‐specific genomic advice that may include: GWS, multi‐gene panel, single gene test, referral to medical genetics for clinical evaluation, or no genetic testing. Here, we describe and evaluate this service. Methods: We analyzed referral patterns, patient demographics, clinical indications, and genomic advice provided during the first year of this service. Comparison of outcomes from the first 6 months versus the last 6 months was performed. Results: A total of 407 referrals (238 males and 169 females [p = .0006]) were processed in the first year. Only children were eligible for referral and average patient age was 8 years. Medical genetics was the most frequent referring discipline, followed by biochemical disease and pediatric neurology, respectively. Most patients (68%) had syndromic intellectual disability. There was a significant difference in the frequency of referrals not appropriate for GWS in the first versus the second 6 months of the service (75/220 vs. 42/187; p = .01) suggesting increasing awareness of testing criteria by referring physicians. Conclusion: This triage service is utilized throughout the province and appears to be an important factor in the high diagnostic rate (>40%) achieved in our GWS program.
- Subjects
NUCLEOTIDE sequencing; MEDICAL care; GENOMICS; FLUORESCENCE; POLYMERASE chain reaction
- Publication
Molecular Genetics & Genomic Medicine, 2018, Vol 6, Issue 4, p592
- ISSN
2324-9269
- Publication type
Article
- DOI
10.1002/mgg3.410