Impact of direct-to-consumer genetic testing on Australian clinical genetics services
Preprint
Abstract
Purpose: The increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic health services worldwide. However, no studies have collected recent evidence regarding the extent of this impact in Australia. Methods: We administered an online survey to Australian clinical genetics services, asking questions related to DTCGT-related referrals received and outcomes over the past 10 years. Results: Eleven publicly-funded clinical genetics services completed the survey, reporting over 100 DTCGT-related referrals. Most referrals (83%) were made by general practitioners seeking interpretation of DTCGT results. More than 30% of referrals related to imputed genetic risk estimates generated from third-party web-based software tools. Services reported low validation rates for DTCGT results (<10%). Procedures for managing DTCGT referrals and granting appointments were variable between services, with most services (8/11) lacking specific procedures. Conclusion: Our study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed genetic risk estimates generated from third-party software.Keywords
All Related Versions
- Published version: European Journal of Medical Genetics, 63 (9), 103968.
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