Delivering on the promise of personalised medicine

There is currently relatively little evidence about where we might obtain the best value from genomic testing, which has the potential to offer patients information about the risk of many different conditions.

This has led to individuals involved in genomic research to speculate on what impact an increased use of genomic information will have on both health outcomes and overall health budgets. A viewpoint published in the Lancet went as far to suggest dramatic reductions (as large as 50%) in the incidence major complex diseases like heart disease and cancer as a result of the provision of genetic risk information in healthy individuals. It was argued that healthy individuals were likely to change their behaviour when presented with their genetic risk of disease, thereby avoiding the mortality impacts and costs of treating such diseases. The majority of studies assessing the added benefit of genetic risk estimates to lifestyle interventions for major complex diseases, however, demonstrate that behaviour does not change significantly based on provision of genetic risk information.

Myself along with colleagues from the Garvan Institute of Medical Research in Australia recently commented on these unrealistic expectations with the hope of sparking a more informed debate about the potential value of genomic testing and how it might fit into healthcare systems given current evidence. We suggest that current genomics would be most productively applied “to identify individuals at high risk of imminent, serious, preventable, penetrant disorders that have large health-care costs.” Citing examples such as phenylketonuria, fragile X syndrome and beta thalassaemia where the provision of genetic information has had substantial impacts on the prevalence of these diseases (reductions ranging from 47% to 95%). It is individuals who are affected by these types of diseases, who, along with their families are uniquely placed to gain immediate benefit from personalised genomic medicine.

 

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