Direct-to-consumer (DTC) availability of genetic testing is a relatively new phenomenon, which has, until recently, largely escaped the attention of regulators.
Made possible by the results of large-scale research projects such as the Human Genome Project, DTC genetic testing offers consumers the ability to access their personal genetic information for a range of uses, from the relatively benign to the potentially catastrophic, including information about predisposition to life-threatening illness.
Although genetic tests relied on by clinicians in the context of diagnosis must comply with strict accreditation and quality control procedures, and demonstrate their clinical validity and utility before they are approved on a nation by nation basis, DTC genetic tests are available across borders and until recently have avoided enforcement by regulators of compliance with regulatory frameworks.This chapter examines DTC genetic testing, focusing specifically on regulatory, privacy and consumer-protection issues. The cross-border marketing of low-cost multinational DTC genetic testing poses questions for Australian and international regulators, health service practitioners and consumers regarding consistency with privacy, data protection and consumer protection laws, the development of coherent international regulatory mechanisms and issues of genetic discrimination (the “GATTACA Problem”). The authors discuss current industry practice, and critique efforts to bring DTC genetic testing within the scope of regulatory bodies, including: the Food and Drug Administration (FDA) and the Therapeutic Goods Administration (TGA) in the US and Australia, respectively; proposed Australian National Health & Medical Research Council (NHMRC) Guidelines aimed at supporting doctors when confronted with DTC test results by patients; and legislative reforms against genetic discrimination, such as the Genetic Information Nondiscrimination Act (GINA) in the US. Drawing on previous experiences with Australian privacy law and its application to genetics, the authors argue that some efforts in Australia potentially further weaken the Australian privacy regime, and leave doctors exposed to liability. The authors suggest that the development of an international consumer protection framework regarding DTC genetic testing is both desirable and possible, although not, apparently, on the current international agenda.