Regulatory approval of tests

(commercial, laboratory-developed and self-testing/direct-to-consumer)

Genetic and genomic tests are regulated as in vitro diagnostic (IVD) medical devices. Generally, countries have a regulatory framework for medical devices including in vitro diagnostics and in some areas harmonisation is possible such as through the EU Regulation 2017/746 on in vitro diagnostic medical devices. Broader international harmonisation is also emerging through the use of bi-lateral Mutual Recognition Agreements such as those for conformity assessments of medical devices by designated bodies between a range of countries including, Australia, Canada, US, EU, Japan and New Zealand.

IVDs can be a commercial test kit which is a product developed, produced, and sold by a manufacturer for distribution to multiple laboratories or a laboratory developed test (LDT) or in-house test which is a product developed by and used in a single laboratory. As noted by the 2014 US Congressional Research Service Report, up until a few years ago most genetic tests were not subject to premarket review because most were developed for in-house use and mostly to diagnose rare diseases. These tests were also highly dependent on expert interpretation. However, more recently, LDTs have been developed to assess common diseases and conditions and direct-to-consumer (DTC) genetic testing has become more available. As a result, a number of agencies have adopted approaches to regulate LDTs. The US Food and Drug Administration, for example, uses a risk-based regulatory scheme for medical devices including IVDs with the risk classification based on the intended use and the risk relative to that use. 

The Australian IVD Medical Devices regulatory framework also includes regulation for access to IVDs for self-testing (home use) also known as direct-to-consumer (DCT) tests. IVDs intended for self-testing are tests that are used in the home or a similar environment and are not carried out under the supervision of a health care provider. Certain types of self-testing IVDs are prohibited from supply under the Australian framework including:

  • IVDs used to test for pathogens or diagnose notifiable infectious diseases;

  • tests to determine genetic traits;

  • IVDs used to test for serious disorders, for example cancer or myocardial infarction.

Kalokairinou et al (2018) provide an overview of the fragmented regulatory landscape of DTC genetic testing in Europe and Curnutte (2017) provides a case study of how the FDA has set standards for the marketing approval of DTC genetic tests.

 Some of the difficulties in regulating DTCs include:

  • service providers being based in different countries to the clients

  • knowing whether tests are undertaken in accredited laboratories and have met quality standards and that the test has clinical validity and utility

  • lack of involvement of health professionals, including medical practitioners, clinical geneticists and genetic counsellors in the genetic testing process

  • extent of informed consent and duty of care (also covered in ELSI theme)

  • the impact of DTC test results on ability to obtain risk-rated insurance products, such as life insurance or income protection insurance