Human Genetics Society of Australasia Position Statement: Online or Direct-to-Consumer Genomics Testing

This position statement provides guidelines for health professionals who are considering online or direct-to-consumer genetic testing for their patients. It presents the major issues around online and direct-to-consumer (DTC) testing including how it is accessed, motivations for accessing testing and how to return these results. Online or DTC recommendations include: (1) DTC testing should only be done by individuals/consumers who are well informed, aware of the risks, benefits and limitations of testing, and able to consent for their DNA to be collected, analyzed and potentially stored. Where possible, individuals/consumers should also be aware of the alternative option of undertaking testing through healthcare professionals in a clinical context, and the benefits of this. (2) Decisions about having a child tested should be based on peer-reviewed, published evidence. Genomics testing for children should be within a clinical context where parents are informed, have access to clinical support and professional genetic counseling about this decision, as well as support for the range of results received. (3) Parents considering direct-to-consumer testing on their newborn are counselled, or given information, to encourage them to have standard government funded newborn bloodspot screening testing on their newborn. (4) When choosing an online genomic test, preference should be given to tests undertaken in accredited laboratories offering tests accredited with the Therapeutic Goods Administration. (5) Results obtained through methods other than direct analysis from a laboratory accredited to perform genomic testing to inform human health and wellbeing should be interpreted with caution. The HGSA recommends that such results must be confirmed in an accredited diagnostic laboratory prior to relying on them to inform options for treatment, surveillance or risk reduction, or before undertaking cascade testing in family members. (6) When individuals are concerned about their health, they should consult an appropriate healthcare professional to decide whether an online genomic test is appropriate and discuss how useful test results could be to make health-related decisions.