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How EU rules could restrict genetic testing

Proposed amendments to draft European regulations governing the use of medical devices could see the use of genetic tests restricted to specific scenarios. Here Will Greenacre, Policy Officer at the Wellcome Trust, explains how medical research funders are getting together to raise concerns that the proposals could limit the availability of genetic testing — and hamper the burgeoning field of stratified medicine.

Image credit: Wellcome Library, London

Image credit: Wellcome Library, London

Genetic testing is becoming an increasingly vital part of mainstream healthcare. These types of tests, usually carried out on blood samples, are used to identify the presence or absence of particular genetic variants. The results are then analysed to diagnose a condition, determine susceptibility to developing a disease, or to inform a course of treatment.

For example, a doctor might refer a patient for genetic testing because their family history indicates an increased risk of heart disease. Genetic testing can identify raised susceptibility, and then inform conversations between doctor and patient about lifestyle changes and, if necessary, further treatment to reduce the risk.

Genetic tests are in the spotlight right now because the European Union is currently redrawing the rules governing the manufacture and sale of all medical devices, including in vitro diagnostic devices from blood glucose monitoring kits for diabetes and home pregnancy tests, right through to complex hospital assays.

The new rules, which will be directly binding in national law for all EU member states, also place specific requirements on the use of genetic tests, potentially limiting their availability.

An amendment proposed by the European Parliament to the draft In Vitro Diagnostic Medical Devices Regulation requires that genetic tests can only be conducted by a qualified medical professional, and only after a prescription is supplied, mandatory genetic counselling has been provided and full consent given.

This is unquestionably appropriate for some types of tests, where the results could have profound implications for the patient and their family. For example, genetic testing for the serious neurodegenerative condition Huntington’s disease requires counselling because, with no treatment available and the disease not manifesting until middle age, the results have a profound impact on a patient’s future.

But to apply these requirements to all genetic tests would risk restricting their availability in a whole range of clinical circumstances. In many clinical cases, the new rules are unnecessary, unworkable and potentially very expensive for the NHS.

For example, parents of a newborn baby would no longer be able to verbally agree for health workers to take blood at birth to screen for genetic disorders. Although the chance of having many of the conditions screened for is low, the parents would still need to discuss them in advance with a genetic counsellor and wait for a doctor to carry out the tests. Yet early treatment of these diseases is crucial to help avoid irreversible damage such as developmental delay and sudden death.

A qualified genetic counsellor could no longer test a person with a family history of heart disease, as they must wait for a separate appointment with a doctor, potentially adding enough inconvenience to the process that the patient never takes the test or makes the necessary lifestyle changes to avoid disease.

Impact on research

The requirements could have implications for research too. A major area of research at present is the development of stratified — also known as personalised — medicine, which uses a variety of methods, including genetic testing, to identify patients with distinct mechanisms of disease, or particular responses to treatments, and then develops treatments that are ‘tailored’ to those groups.

Stratified medicine is a developing field with huge potential — but if the EU passes regulations that restrict the availability of the genetic testing tools and techniques on which it is based, there is a danger that this potential may not be fully realised.

The additional cost and complexity of implementing the proposed requirements to allow patients to access genetic tests to guide their treatment may mean they fail to get the appropriate interventions.

It would also be a waste of medical research funding if strategies are developed but can’t be implemented. In the longer-term, research and development in the area of stratified medicine could be hampered by the potential lack of take up in the clinic.

What we’re doing

The Wellcome Trust is working with the European Genetic Alliances’ Network, the European Society of Human Genetics, Genetic Alliance UK, the MRC, the PHG Foundation and other partners to raise awareness of these concerns in Brussels and to help inform a workable solution in upcoming negotiations to finalise the Regulations, with the aim of reaching agreement by the end of the year. We are hopeful that the Parliament will be willing to discuss compromises as part of the negotiations with Member States and the Commission, so we will be flagging potential amendments that address our concerns.

While we support the principles of counselling and consent as an essential part of genetic testing in healthcare, this needs to be proportionate – aligned to the seriousness of the condition being tested for, the implications of the test result, and the significance of the information for the patient and their family.

Member States need the flexibility to regulate according to the specific needs of their healthcare system within a framework of suitable EU minimum standards. This would include the flexibility to offer genetic tests from any appropriately qualified health professional, allow exceptions to requirements for prescriptions, and require genetic counselling only in cases in where it is necessary to support the patient.

Regulation of this area can be complex, but it must aim to strike the right balance between protecting patients and encouraging innovation for their ultimate benefit.

Will Greenacre

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