Joint statement from the PHG Foundation, the European Genetic Alliances’ Network, the European Alliance for Personalised Medicine and the Wellcome Trust on amendments tabled in the report of the Committee on the Environment, Public Health and Food Safety on the proposal for a regulation on in vitro diagnostic medical devices October 2013 Key recommendations: Amendment 42 – to widen the scope of the Regulation to encompass devices intended to be used for “direct or indirect medical purposes” and of “providing information concerning direct or indirect impacts on health”. Recommendation: Oppose Amendment 42 Amendment 49 – to define “a device for genetic testing” as an in vitro diagnostic medical device the purpose of which is to identify a genetic characteristic of a person which is inherited or acquired during prenatal development”. Amendment 72 – to establish very specific requirements on the use of genetic tests, including provisions requiring medically qualified personnel to conduct tests, specific information to be provided prior to testing and explicit consent to be required for every test. Recommendation: Oppose Amendments 49 and 72 Amendment 271 – modifies amendment 72 to require, among other points, that persons qualified under national law in genetic counselling may deliver the mandatory genetic counselling. Recommendation: Oppose Amendment 271 Amendment 40 – provides that certain categories of device may only be supplied on medical prescription. Amendment 205 – proposes that a prerequisite for using self-testing devices for chronic and transmittable disease should be appropriate counselling conducted by medical professionals Amendment 268 – provides some scope for derogation from the requirement for medical prescription for some class D tests and some class C tests in a manner that is internally contradictory. Recommendation: Oppose Amendments 40, 205, and 268

Background 1.

The EU Parliament is currently reviewing European legislation on medical devices and in vitro diagnostic devices with a view to replacing the current Directive on in vitro diagnostic medical devices with a Regulation that will be directly enforceable by member states. The Committee on the Environment, Public Health and Food Safety, is leading the revision process, and a plenary session of the European Parliament is scheduled on 22 October 2013 to discuss the recommendations made in a Report 1 from that Committee. While we welcome the moves to update the legislation, we have a number of concerns about the specific proposals. In our view, several amendments in the Report could have serious impacts on healthcare provision in the UK and throughout Europe, and limit the uptake of new healthcare innovations. Our key concerns, with references to the relevant amendments, are set out below.

Scope of the proposals and definitions 2.

Amendment 42 proposes to widen the scope of the Regulation to encompass devices intended to be used for “direct or indirect medical purposes” and of “providing information concerning direct or indirect impacts on health”. This would extend the regulatory reach to products having an ‘indirect’ effect on health through information provision, such as lifestyle ‘apps.’ We know of no evidence to suggest that regulation of these kinds of products would be beneficial; conversely, additional regulation could, in fact, stifle innovation, and thus undermine the competitiveness of European states in this sector and compromise the health and wealth of their citizens. Furthermore, expanding the scope of the Regulation in this way could lead to lack of clarity regarding what devices are within scope. This potentially would lead to delay in access to healthcare products without a corresponding contribution to improving patient safety. Recommendation: Oppose Amendment 42

Requirements for genetic tests 3.

Amendment 49 proposes a definition of ‘device for genetic testing’ as ‘an in vitro diagnostic medical device the purpose of which is to identify a genetic characteristic of a person which is inherited or acquired during prenatal development’. This is a potentially broad definition which would cover any test that seeks to identify a genetic variant regardless of whether it is found commonly in populations or is causally linked to illness or disease.

4.

A further amendment, Amendment 72 proposes to establish very specific requirements on the use of genetic tests, including provisions requiring medically qualified personnel to conduct tests, specific information to be provided prior to testing and explicit consent to be required for every test.

1

Report on the proposal for a regulation of the European Parliament and of the Council on in vitro diagnostic medical devices, A7-0327/2013 accessible at http://www.europarl.europa.eu/sides/getDoc.do?type=REPORT&mode=XML&reference=A7-20130327&language=EN

5.

In combination, we believe that the effect of these amendments would be to restrict access to genetic testing, and ongoing diagnosis, targeted interventions and treatment. Since genetic and genomic technologies are increasingly becoming part of mainstream care, we are concerned that these amendments would also potentially hinder the uptake of beneficial technologies based on nucleic acid based tests into other clinical areas. Recommendation: Oppose Amendments 49 and 72

6.

Amendment 271: An additional amendment has been proposed which modifies amendment 72. Amongst other things it provides that persons qualified under national law in genetic counselling may deliver the mandatory genetic counselling. This concession does not address our substantive concerns set out above. Recommendation: Oppose Amendment 271

Justification: 7.

Genetic counselling: First, the requirement for genetic counselling to be delivered by medical professionals is not consistent with current practice in the UK, where accredited genetic counsellors are widely used to deliver genetic counselling, supported by guidance from medical practitioners. A narrow interpretation of this amendment, that medical practitioners should ‘conduct’ the test, would restrict the delivery of genetic counselling to members of the medical profession and exclude this highly trained group of health care professionals from the legitimate delivery of healthcare. Other examples include the delivery of routine prenatal screening tests by midwives, which would fall under the definition of genetic tests under these amendments. Moreover, as novel genomic tests are developed, their scale and complexity will mean that clinical bioinformaticians rather than medical professionals will be best equipped to interpret test significance.

8.

Requirements for consent: Second, because the scope of the definition of ‘devices for genetic testing’ is so wide, we consider that the requirement for informed consent for individual genetic tests, and for appropriate and “comprehensive” genetic counselling, might be interpreted in a manner that places disproportionate burdens on health services as the use of genetic tests become increasingly routine in a range of clinical contexts. Both these requirements are predicated on the assumption that genetic tests are used solely for the prediction or diagnosis of serious inherited genetic disorders. However, genetic tests are increasingly being used in other clinical areas, such as the testing of cancer genomes to predict progression or sensitivity to specific treatments. In addition, the testing of risk factors, including genomic biomarkers, predisposing to common complex disorders such as heart disease is likely to become increasingly widespread. Here the information will usually be risk-based rather than deterministic. While such tests will create a critical need for healthcare professionals to be able to communicate this risk-based information effectively to patients, additional

specialist genetic counselling may not always be required. In short, these amendments seem at odds with scientific and clinical developments, and would become increasingly limiting and unworkable. 9.

Requirements for consent and counselling need to be proportionate, taking into account the nature of the test and the likely implications of the information for the patient and their family. With regard to counselling, we would urge that the word “comprehensive” be removed from the requirement, as the appropriate level of counselling will not always be comprehensive.

10.

These amendments could also restrict the uptake of novel genomic technologies; particularly as whole genome sequencing becomes an increasingly widespread part of front line care. The form of consent that should be used when a single test is used across multiple conditions has yet to be resolved. The requirement for explicit and written consent therefore has the potential to hinder future professional development and technological uptake in this area, and we believe it is premature to attempt to regulate in this manner in the absence of agreed best practice.

Requirement for medical prescription or counselling by a medical professional 11.

Amendment 40 provides that certain categories of device may only be supplied on medical prescription. These include all class D devices (including devices used to detect transmissible disease agents such as HIV and Hepatitis C), and some Class C devices, including devices for genetic testing and companion diagnostics. Risk factors for HIV and Hepatitis C include injection drug use and traumatic sexual practices, and consequently seeking these tests via medical services is sometimes regarded as being potentially stigmatising. The fear of discrimination from third parties (including employers and insurers) is frequently cited as a reason why some people seek genetic tests on a direct-to-consumer basis. Criminalising access to direct-to-consumer tests for these conditions is likely to have a detrimental effect on public health through reducing equity of access to these tests – particularly for certain vulnerable groups.

12.

Amendment 205 proposes that a prerequisite for using self-testing devices for chronic and transmittable disease should be appropriate counselling conducted by medical professionals. Again, we consider that the enforced receipt of counselling from medical professionals could have a deterrent effect on test uptake and subsequent treatment.

13.

Clinical genetics has a long tradition of offering but not mandating the receipt of appropriate counselling. The right of the patient to decide what information should be provided to them (‘the right not to know’) remains an important ethical principle in clinical genetics. Since public health physicians regard diabetes, raised blood pressure or hypertension, and obesity as chronic diseases, the logic of this amendment is that before using weighing scales or a blood pressure measuring device, consumers should have ‘appropriate counselling’ from a doctor. Restricting access to tests in this way could also stifle the development of personalised approaches to healthcare. In combination these two amendments could have a significant and detrimental effect on public health.

14.

Amendment 268 provides some scope for derogation from the requirement for medical prescription for some class D tests (on the basis of the need for public health protection) and some class C tests. We consider that this amendment is internally contradictory and there is lack of clarity about its scope and the extent of the exemptions contained within it. Recommendation: Oppose Amendments 40, 205, and 268

We would be happy to discuss any of these issues further.

Contacts Alison Hall, PHG Foundation – [email protected] Will Greenacre, Wellcome Trust – [email protected]