Human Genetics Commission reports on direct-to-public genetic testing 14/4/03. By the Public Health Genetics Unit 'Genes Direct', by the Human Genetics Commission, examines genetic testing services offered directly to the public.

The much-trailed report by the Human Genetics Commission on genetic testing services offered directly to the public has now been published. 'Genes Direct', subtitled 'Ensuring the effective oversight of genetic tests supplied directly to the public', is in fact rather less prescriptive than these phrases imply.

The report contains useful discussion about many of the questions surrounding the issue, for example:

• the need to seek a balance between respecting people's right to seek information about themselves and protecting the vulnerable
• the different levels of predictive certainty that apply to tests for highly-penetrant single-gene diseases and tests for weakly-penetrant variants involved in predisposition to common disease
• the need for clarification of the degree to which existing regulatory regimes do or do not cover genetic tests
• the difficulty of ensuring that consent has been obtained when home testing kits are used
• the importance of commercial testing companies maintaining high standards of confidentiality and security in storing samples
• the need for consumer education about the nature and limitations of genetic tests
• and the role of professional regulation in ensuring best practice by groups such as pharmacists or nutritional therapists.

The Commission rejects the two extreme options of either allowing a free-for-all or banning direct-to-public/consumer tests altogether.

It opts instead for a mixture of voluntary and statutory controls on such tests but is vague about which sorts of tests should attract which sorts of controls, saying only that "there needs to be a coherent review framework that can cover genetic tests across a spectrum that may range from the highly penetrant mutations in genes of large effect to those with loose associations with disease and those that are of relatively little health consequence".

The Commission foresees roles for various agencies, such as the Office of Fair Trading, the Medicines and Healthcare Products Regulatory Agency, the proposed Human Tissue Authority, the Council for Regulation of Healthcare Professionals, and the UK Genetic Testing Network, in providing a network of points at which various levels of regulation could be brought to bear on genetic tests and the conduct of those involved in providing them.

The report is categorical, however, in rejecting any regulatory role for the HGC itself. The Commission intends to publish an additional short report that will deal with the specific issues posed by paternity and genealogy testing services.

Article courtesy of the Public Health Genetics Unit .