Impact of In Vitro Diagnostic Devices regulatory reforms on genetic testing

By Alison Hall

27 April 2015


The changing regulatory landscape in Europe

For those with an interest in healthcare and medical research, the last few years have seen unprecedented change in the potential for European legislation to impact upon practice. Three areas are of particular interest: clinical trials, data protection and medical devices. The reforms are significant because in all three areas, what is being proposed, (or implemented in the case of clinical trials) is that the EU adopts Regulations which will apply as direct law across all member states. Unlike the existing Directives, which allowed countries some wriggle room (or derogation) – these Regulations apply directly.

The purpose, of course, is to achieve greater harmonisation and consistency across member states, and undoubtedly this will result in more streamlined processes and facilitate collaboration. However, the proposals fail to account of national differences in health care service provision, and take insufficient account of differences in laws and cultures. This failure, coupled with some disproportionate and burdensome clauses within the Regulations could have a profound negative impact on healthcare and medical research.

Medical devices regulations

Nowhere is this more important than in the proposed reforms to medical devices: the European Union is proposing updating its legislation on the development, management and sale of medical devices, through two linked Regulations – the Medical Devices Regulation and the In Vitro Diagnostic Medical Devices Regulation. The latter applies to a sub-class of medical devices including blood glucose tests, and tests that are used in hospitals or at home for prognosis, diagnosis, treatment and management. It also applies to devices that have both direct and ‘indirect’ impacts on health. For the first time, the In Vitro Medical Devices Regulation specifically includes genetic tests within its remit.

The legislative process for European legislation involves draft text being adopted by the European Parliament, before being debated by the Council of Europe, and then negotiating a final position with the European Parliament and the European Commission – the ‘trilogue’ process. The current draft of the In Vitro Diagnostic Medical Devices Regulation was formally adopted by the European Parliament in April 2014, and includes a number of amendments proposed by the Committee on Environment, Public Health and Food Safety.

Implications for genetic testing

These amendments include specific and onerous requirements on how genetic tests may be used, including providing that genetic tests may only be conducted by medically qualified personnel; that genetic counselling must be provided before and after a genetic test is delivered; and that an explicit written consent must be obtained before every genetic test is performed. These requirements will restrict access to genetic tests and to downstream diagnosis, targeted interventions and treatment. For example, in the UK, genetic tests are increasingly being offered by genetic counsellors or midwives as part of routine NHS care. If the legislation were to be adopted as currently drafted, clinical practice would have to be restructured to comply with the Regulation.

As genetic and genomic tests are used more and more widely across clinical specialties, and are increasingly becoming part of mainstream care, another concern is that these amendments would also hinder the uptake of beneficial technologies based on genetic tests into other clinical areas. For example, the requirement for counselling before and after the test is undoubtedly justified where the result of the genetic test will indicate a risk of serious inherited disease in the patient or a family member. However it is disproportionate to require the same standards for other types of genetic tests, such as some susceptibility tests or drug response tests, for example, where the results are not as predictive or the potential results so significant.

Joint statement

The PHG Foundation has been working with the Wellcome Trust to highlight these concerns, and the resulting joint statement also has the support of many professional organisations, patient groups and pan-European bodies. Over the next few months we will work with stakeholders and those involved in the legislative process, to highlight the potential adverse impact of the new legislation, and to try to ensure that the legislators understand the significant burdens associated with what is proposed, and that the final version of the legislation does not unnecessarily or disproportionally restrict access to genetic testing technologies and that it reflects current clinical practice.

A critical window for action

The current drafts of both the Medical Devices and IVD Regulations are being considered by the Council of Europe (in its Employment, Social Policy, Health and Consumer Affairs configuration) and it is expected to reach agreement about the proposed regulations in the next six months or so. Once the Council have finalised their position, this will allow the wider negotiations between the Council, European Parliament and the Commission to get underway. The next six months will be a crucial time for raising awareness of the potential impact of these proposals.

To find out more or lend your support to the joint statement, please contact Alison Hall

Genomics and policy newsletter

Sign up