Impact of Direct-To-Consumer Genetic Testing on Australian Clinical Genetics Services

Michael Millward 1, Jane Tiller 2, Michael Bogwitz 3, Helen Kincaid 4, Shelby Taylor 3, Alison H Trainer 3, Paul Lacaze 5

Affiliations

PMID: 32502649
DOI: 10.1016/j.ejmg.2020.103968

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.

Keywords: Australia; Direct-to-consumer genetic testing; Genetics; Impact; Public genetics services.