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...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2020-09, Vol.63 (9), p.103968-103968, Article 103968
Main Authors: Millward, Michael, Tiller, Jane, Bogwitz, Michael, Kincaid, Helen, Taylor, Shelby, Trainer, Alison H., Lacaze, Paul
Format: Article
Language:English
Subjects:
Australia
Direct-to-consumer genetic testing
Direct-To-Consumer Screening and Testing - statistics & numerical data
Facilities and Services Utilization - statistics & numerical data
Genetic Testing - statistics & numerical data
Genetics
Humans
Impact
Public genetics services
Referral and Consultation - statistics & numerical data
Surveys and Questionnaires
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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