Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada
| العنوان: | Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada |
|---|---|
| المؤلفون: | Shelin Adam, Christèle du Souich, Jan M. Friedman, GenCOUNSEL Study, Nick Dragojlovic, Clara D.M. van Karnebeek, Alison M. Elliott, Courtney B Cook, Causes Study, Larry D. Lynd, Tanya N. Nelson, Angela Siemens, Anna Lehman |
| المساهمون: | Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism |
| المصدر: | European journal of medical genetics, 64(7):104024. Elsevier Masson SAS |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, Male, medicine.medical_specialty, Clinical variables, Adolescent, Genome-wide sequencing, Genetic Counseling, Genomic testing recommendations, 030105 genetics & heredity, Logistic regression, Genetic counsellors, 03 medical and health sciences, Genetics, medicine, Humans, Test selection, Genetic Testing, Health services implementation, Child, Exome, Referral and Consultation, Genetics (clinical), Service (business), British Columbia, Whole Genome Sequencing, business.industry, Health Plan Implementation, Infant, General Medicine, Triage, 3. Good health, Test (assessment), 030104 developmental biology, Family medicine, Child, Preschool, Female, Personalized medicine, business, Facilities and Services Utilization |
| الوصف: | Purpose Clinical diagnostic genome-wide (exome or genome) sequencing (GWS) in British Columbia requires funding approval by a provincial agency on a case-by-case basis. The CAUSES Clinic was a pediatric translational trio-based GWS study at BC Children's and Women's Hospitals. Referrals to the CAUSES Clinic were made through a Genomic Consultation Service (GCS), a multidisciplinary team led by genetic counsellors that provided advice regarding genomic testing for physicians considering GWS for their patients. Here we review the outcomes of the GCS, focusing on patients not recommended for the CAUSES Study. Methods Demographic, clinical, and testing data were abstracted from patient charts. Logistic regression analysis was used to explore associations between demographic and clinical variables and two outcomes: the type of recommendation and referring physicians’ decisions to follow the recommendation. Results Of 972 GCS referrals, 248 patients were not referred to the CAUSES Study. GWS (vs. a targeted test; e.g. multi-gene panel) was more likely to be recommended to physicians of patients with ID than physicians of patients without ID (OR = 2.98; 95% CI = 1.46 to 6.27; n = 149). In total, 40% of physicians who were recommended to pursue clinical genomic testing submitted an application for funding approval; 71% of applications were approved for funding. Among approved tests, 50% resulted in a diagnosis, including 33% of targeted tests and 82% of GWS tests (χ2 (1) = 5.0, p = 0.026). Conclusion The GCS provided an effective model in which physicians can interface with genetic specialists, including genetic counsellors, to facilitate appropriate genomic test selection. |
| تدمد: | 1878-0849 1769-7212 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8824eab639cd10c2270bdf323695e02aTest https://pubmed.ncbi.nlm.nih.gov/32798762Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....8824eab639cd10c2270bdf323695e02a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18780849 17697212 |
|---|