Direct to consumer testing in reproductive contexts – should health professionals be concerned?

Heather Skirton

Direct to consumer genetic testing offered via the Internet has been available for over a decade. Initially most tests of this type were offered without the input of the consumer's own health professional. Ethical and practical concerns have been a raised over the use of such tests: these include fulfilling the requirement for informed consent, utility of results for health care management and the potential burden placed upon health services by people who have taken tests.These tests now have an application in reproductive healthcare. The advent of non-invasive prenatal testing has facilitated the genetic testing of the fetus using only a maternal blood sample. However, companies offering such tests, for example for aneuploidy, appear to be doing so based on a referral from the mother's health professional. Preconception or prenatal carrier testing for a range of autosomal recessive conditions can be purchased without the input of a health professional who knows the prospective parents. However, unless the appropriate mutations for the specific population are included in the test, results may create false reassurance. Paternity testing without the consent of the putative father is also available via the Internet, as are tests to ascertain the sex of the fetus, which may be used to select children of a specific gender.Direct-to-consumer tests may support prospective parents to identify genetic risk to their future children, however, it is important that they are aware of the possible limitations, as well as advantages, of these tests. National regulation may not prove effective in ensuring the safety of all individuals involved, therefore international pressure to ensure companies conform to Codes of Practice may be needed, especially in relation to tests that could influence reproductive decisions. However, health professionals have a duty to ensure they are sufficiently knowledgeable to enable them to guide patients appropriately.