Impact of direct-to-consumer genetic testing on Australian clinical genetics services.

Impact of direct-to-consumer genetic testing on Australian clinical genetics services. Eur J Med Genet. 2020 Jun 02;:103968 Authors: Millward M, Tiller J, Bogwitz M, Kincaid H, Taylor S, Trainer AH, Lacaze P 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. PMID: 32502649 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research