Journal article

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

European Journal of Medical Genetics | ELSEVIER | Published : 2020


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 mos..

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Funding Acknowledgements

This study was completed in partial fulfilment of the requirements for the Master of Genetic Counselling, University of Melbourne, Victoria, Australia, and was supported by the Victorian Government's Operational Infrastructure Support Program.