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

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)


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.

Original languageEnglish
Article number103968
Number of pages4
JournalEuropean Journal of Medical Genetics
Issue number9
Publication statusPublished - 2 Jun 2020


  • Australia
  • Direct-to-consumer genetic testing
  • Genetics
  • Impact
  • Public genetics services

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