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Genetics and genomics: focus on value

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In the last decades technical developments have increased the number of genetic tests that are available. Furthermore, the price of genome information has dropped very fast. However, our understanding of the implications of genome variation and the Human Resources to communicate with patients and healthy persons at risk have not developed at similar pace. If we have a limited number of expert clinical geneticists in our health services, as well as limited funding for testing in the health services, we need to decide how to prioritize.

One way to move forward is “mainstreaming”: equipping non-genetic-expert clinicians to inform patients about relevant issues of genetics and genomics. In the UK examples include the testing of ovarian cancer patients for BRCA1 and BRCA2 in routine cancer clinics. In the Netherlands DNA -testing for familial hypercholesterolaemia can be ordered by primary care physicians. Genetic knowledge and skills for health care practice need strengthening. E-learning modules are available at in six languages, including English, Dutch and Italian.

Another question is how to decide on priorities. The European Society of Human Genetics together with health economists considered that prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for (EJHG 2015;23:729). Thus whole genome sequencing for conditions where the likelihood of identifying a meaningful variant might not be prioritized over cascade testing of relatives of FH and BRCA mutation carriers. In the latter cases a high a priori risk (positive predictive value) is combined with proven increases of life expectancy.

In discussions about the value of genetics and genomics we should discuss three elements: the technical value, but also allocative value and personal value. Are services available in an equitable way? Are we spending our money where most people need our services? What are preferences of patients and healthy persons? Genomic research has largely been focussed on populations of European descent. We should integrate genomic knowledge into health care that benefits everyone. 

This seminar will be chaired by Dr Mark Kroese, Deputy Director, PHG Foundation.

This talk is part of the Bradford Hill Seminars series.

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