22 October 2008
Many of the issues associated with personalised health care (see previous news) have already been raised in relation to personalised genomics (see previous news). This includes questions about informed consent and data confidentiality, the usefulness of such information to the individual, how it will affect lifestyle choices, regulation of direct-to-consumer tests, and the impact of such information on insurance policies and the NHS as people seek follow-up support. Although the NHS already utilises some forms of the technologies that the project is focusing on, their application as tools for ‘personalised’ healthcare is at present primarily offered by commercial companies.
The recent plethora of genome-wide association studies revealing genetic risk variants with very low penetrance has raised particular questions regarding the interpretation, validity and utility of tests that purport to predict genetic susceptibility to future disease, which are becoming increasingly availability through private providers. Although these tests, in conjunction with other biomarkers, may ultimately be useful for stratifying the population for the purpose of offering more targeting screening programmes (see previous news), their usefulness at an individual level is still in doubt, particularly in cases where there is no recommended intervention or treatment. Some of these difficulties are discussed in a recent publication [Janssens ACJW & van Duijn CM (2008) Hum Mol Genet 17(2):R166-173], which emphasises that, unlike rare single gene disorders, the complete causal pathway of common multifactorial diseases is likely to differ between individuals, and this inherent complexity means that accurate prediction of risk at an individual level may never be possible.