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

Michael Millward; Jane Tiller; Michael Bogwitz; Helen Kincaid; Shelby Taylor; Alison H Trainer; Paul Lacaze

doi:10.1016/j.ejmg.2020.103968

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

Eur J Med Genet. 2020 Sep;63(9):103968. doi: 10.1016/j.ejmg.2020.103968. Epub 2020 Jun 2.

Authors

Michael Millward¹, Jane Tiller², Michael Bogwitz³, Helen Kincaid⁴, Shelby Taylor³, Alison H Trainer³, Paul Lacaze⁵

Affiliations

¹ University of Melbourne, Melbourne, Australia.
² Public Health Genomics, Monash University, Melbourne, Australia. Electronic address: jane.tiller@monash.edu.
³ Genomic Medicine & Parkville Familial Cancer Centre, Melbourne, Australia.
⁴ Monash Health, Melbourne, Australia.
⁵ Public Health Genomics, Monash University, Melbourne, Australia.

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.

MeSH terms

Australia
Direct-To-Consumer Screening and Testing / statistics & numerical data*
Facilities and Services Utilization / statistics & numerical data*
Genetic Testing / statistics & numerical data*
Humans
Referral and Consultation / statistics & numerical data
Surveys and Questionnaires