Consensus process towards prioritisation of genetic tests
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Next generation sequencing has thrown open the doors for the proper diagnosis and testing of several genetic diseases. Due to the considerable progress in this field over the past years, the cost to sequence an individual genome or exome has reduced substantially as well. However, the decrease in the laboratory costs per test is not reflected in the overall savings in health-care systems as the "cost of data analysis and storage, interpreting the test results, counselling services and follow-up care could lead to an increase in the overall health-care costs associated with genetic testing". The European health-care system works with a limited budget due to which it has become necessary to determine the criteria to decide which genetic services will be funded from the public budgets. The decision on which genetic services will be funded in the next decade from public funds, as all of them cannot be funded has to be based on ethically and economically reflected prioritisation criteria.
A paper published in European Journal of Human Genetics describes how the prioritisation of genetic tests can be formulated. According to the authors "the challenge for prioritising genetic tests is to determine a set of criteria that can be applied to rank order different tests according to their relative priority". Since the authors also note that reasonable people can still disagree about which criteria should be applied, these issues have to be resolved in a fair decision procedure to obtain legitimate guidance. The authors utilise the principles of accountability for reasonableness (A4R) in order to initiate a decision process about health-care prioritisation on a European level. They describe the A4R process followed to develop the prioritisation criteria which involved identifying relevant prioritisation criteria to develop a theoretical framework before applying tentative weights or ranks to each criteria. A good part of these activities took place at the two-day stakeholder and expert workshop (from 28 to 29 November 2012), which was part of the activities conducted within EuroGentest (www.eurogentest.org).
From this extensive exercise, the authors identified the crucial elements for the decision making process which included: "evidence of clinical benefit for the individual being tested, benefit for planning one’s life, benefit for other persons and timing to obtain the benefit, the likelihood of disease or benefit, severity and progression of the disease and the costs of the test". Nonetheless, the authors also emphasise that these criteria should not be seen as fixed or final, but rather as a starting point for further discussions toward a more harmonised and considered approach to priority setting for genetic services across the EU. The authors believe that “the results from this study provide important points to consider for prioritising genetic tests and highlight issues that need further development.”
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