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Impact of direct-to-consumer genetic testing on Australian clinical genetics services.
- Publication Year :
- 2020
-
Abstract
- The increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic services worldwide. However, no Australian studies have collected recent evidence regarding this impact. We surveyed Australian clinical genetics services about DTCGT-related referrals over the past 10 years. Eleven publicly-funded services reported over 100 DTCGT-related referrals. Most (83%) involved general practitioners seeking interpretation of DTCGT results. More than 30% involved imputed risk estimates from third-party software tools. Services reported low validation rates for DTCGT results (<10%), and variable procedures for managing DTCGT referrals, with most (8/11) lacking specific procedures. Our study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed risk estimates.Copyright © 2020 Elsevier Masson SAS
Details
- Database :
- OAIster
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1305131612
- Document Type :
- Electronic Resource