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

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-relate...

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Veröffentlicht in:European journal of medical genetics 2020-09, Vol.63 (9), p.103968-103968, Article 103968
Hauptverfasser: Millward, Michael, Tiller, Jane, Bogwitz, Michael, Kincaid, Helen, Taylor, Shelby, Trainer, Alison H., Lacaze, Paul
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Sprache:eng
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Zusammenfassung: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 (
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2020.103968