GESTIÓN EN SALUD PÚBLICA: European Society of Human Genetics: Proposed EU Regulation on Medical Devices

European Society of Human Genetics: Proposed EU Regulation on Medical Devices

Proposed amendments to EU Regulation on Medical Devices are counter to patients’ interests and unworkable, says ESHG

For immediate release

Recent amendments to the proposed Regulation on In Vitro Diagnostic Medical Devices (IVDs) currently before the European Parliament will restrict the rights of patients and doctors to carry out essential genetic testing, says the European Society of Human Genetics (ESHG) today (Monday 7 April 2014). Furthermore, an independent legal opinion now shows that the European Union (EU) has no competence to enact the Regulation as amended by the Parliament.

The new Regulation was proposed by the European Commission in order to bring the regulation of diagnostic kits or IVDs up to date. The ESHG has welcomed the Commission’s proposal as it will ‘improve the quality, safety availability and oversight of IVDs marketed and used in the European Union.’

However amendments, proposed by German MEP Peter Liese, call for mandatory detailed genetic counselling to accompany every genetic test and hold the person carrying out a genetic test responsible for the rights, safety and well-being of the test subjects. The amendments say that genetic counselling should be appropriate and comprehensible and that it should include medical, ethical, social, psychological and legal aspects. “These are praiseworthy objectives with which no-one would disagree, but they are well beyond the scope of a regulation on the safety of IVDs,” said Dr David Barton, from the National Centre for Medical Genetics, Dublin, Ireland, speaking on behalf of the ESHG.

“Medical practice, including genetic medicine, is organised and delivered in many different ways in different Member States. This proposed article encroaches on this diversity and seeks to dictate in detail the arrangements for every clinic where a genetic test may be ordered. It insists on the direct involvement of a medical doctor in every patient interaction, where, in reality, it is common practice for genetic tests to be ordered by other healthcare professionals such as genetic counsellors under the supervision of a medical doctor.

“Marvellous advances in genetic science are bringing genetic testing into every area of medicine. The proposals set out here seek to impose a single restrictive template on all genetic tests; this is unworkable and can only impede the progress of medical practice in the EU,” he said.

The new legal opinion, from the respected life science law firms Lawford Davies Denoon and Axon Lawyers, says that because the proposed amendments are outside the competence of the EU, if a Regulation were to be enacted incorporating the new articles, it could be challenged on the grounds of ‘infringement of the principle of subsidiarity by a legislative act.’

“We hope that the European Council will now consider these proposals in the light of the competence of the EU”, says Dr Barton “We are gravely concerned that these proposals, as they stand, restrict legitimate, ethically-acceptable genetic testing activities such as the screening of new-born babies. They infringe on accepted and acceptable clinical practice when they should simply be regulating IVDs, effectively hijacking a sound and important Regulation to interfere with carefully regulated clinical practice, and infringing on patients’ autonomy.”
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Notes for editors: Further documents relating to this issue may be found below.

The European Society of Human Genetics is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society encourages and seeks to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

Further information:
Mary Rice
Tel: +33 (0) 3 85 28 26 63
Mobile : +33 (0)6 68 93 06 50
Email: mary.rice@riceconseil.eu

Background

The European Society of Human Genetics fully supports the aims and objectives of the Council of Europe’s Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes, and the OECD Guidelines on Quality Assurance for Genetic Testing.

ESHG welcomes the European Commission’s proposal for a Regulation on in vitro Diagnostic Devices. This Regulation will improve the quality, safety and oversight of IVDs marketed and used in the European Union. ESHG particularly welcomes the introduction of mandatory accreditation for health institution laboratories, which manufacture their own tests. This will bring a new level of quality assurance to many genetic tests, especially tests for rare diseases.

Overall, the European Society of Human Genetics welcomes the EuropeanCommission’s proposed Regulation on IVDs as a very necessary modernisation of the system which ensures that IVD medical devices are safe, reliable and available to all the citizens of the EU. The ESHG and EuroGentest engaged with the Commission’s consultation process prior to the publication of the proposal for a Regulation, and many of their suggestions have been incorporated into the Commission’s text. Since the proposal was published, they have made further detailed submissions covering a number of important areas.

Details can be found at http://www.eurogentest.org/index.php?id=221

However, the hijacking of this welcome proposal in an attempt to regulate the practice of genetic medicine has been a most unfortunate development. We hope the publication of this detailed legal opinion will assist and encourage the Council to reject the Liese Amendment.

We detail below the specific problems with the text proposed by Mr Liese, and the possible harms to patients.

Potential harms that could result from the implementation of Amendment 271 proposed by the European Parliament.

This table lists, from left to right: The text proposed by the Commission; the text proposed by MEP Peter Liese: ESHG/EuroGentest’s analysis of deficiencies in the text; possible harms to Genetic Medicine services (and by extension, to patients) that could result from the implementation of each clause.

Text proposed by the Commission	Amendment	EuroGentest Analysis	Possible Harms
	*Article 4a (new)*
<none>	1. A device may only be used for the purpose of a genetic test if the indication is given by persons admitted to the medical profession under the applicable national legislation after a personal consultation.	The wording does not make it clear who should have a “personal consultation”, or with whom. It can be read to mean that persons are admitted to the medical profession after a personal consultation. This paragraph should be deleted	No direct harm, but the ambiguity of the wording renders the provision ineffective.
	2. A device may be used for purposes of a genetic test only in a way that the rights, safety and well-being of the subjects are protected and that the clinical data generated in the course of the genetic testing are going to be reliable and robust.	While laudable in its intentions, this provision goes well beyond the regulation of IVDs into the practice of medicine and areas of patient well-being which are beyond the control of the test manufacturer, the end-user of the device or even the clinician seeing the patient. This paragraph should be deleted
	3. Information. Before using a device for the purpose of a genetic test the person mentioned in paragraph 1 shall provide the person concerned with appropriate information on the nature, the significance and the implications of the genetic test.	The meaning of this paragraph is unclear, as no specific person is mentioned in paragraph 1. If it means the clinician ordering the test, (s)he will not usually be “using a device”, that is done by laboratory personnel. It is not clear who “the person concerned” may be – the test subject? The user of the device? Genetic testing is organised in different ways in different Member States: information about the test will not always be given by a medical doctor. This paragraph should be deleted	No direct harm, but the ambiguity of the wording renders the provision ineffective.
	4. Genetic counselling. Appropriate genetic counselling is mandatory before using a device for the purpose of predictive and prenatal testing and after a genetic condition has been diagnosed. It shall include medical, ethical, social, psychological and legal aspects and has to be addressed by physicians or another person qualified under national law in genetic counselling.	This text does not specify who should have genetic counselling; in fact it seems to suggest that the user of the device should receive the counselling. The meaning of "has to be addressed by physicians qualified in genetic counselling" is not clear. Again, the users of IVDs have no control over what happens between the clinician and his/her patient. The suggestion that counselling should be given (to the patient) “after a genetic condition has been diagnosed” is all very well, but it has nothing to do with the IVD. This paragraph should be deleted	Many Member States do not have national laws concerning qualifications for Genetic Counsellors. This paragraph would, on a strict interpretation, prevent Genetic Counsellors from working in those Member States.
	*The form and extent of this genetic counselling shall be defined according to the implications of the results of the test and their significance for the person or the members of his or her family.*
	5. Consent. A device may only be used for the purpose of a genetic test after the person concerned has given free and informed consent to it. The consent has to be given explicitly and in writing. It can be revoked at any time in writing or orally.	The wording is hopelessly vague. It is unclear who the “person concerned” might be; it appears that this person must consent to the device, rather than the test. Even assuming that this paragraph is addressing informed consent for the test from the patient to be tested, this again mixes up laboratory diagnostics and the practice of medicine. The laboratory which carries out the test is not in a position to judge whether the consent obtained is “free and informed” Explicit consent in writing is not routinely obtained in newborn screening programmes and in many other areas of genomic medicine. A requirement for explicit written consent is excessively burdensome for low-risk genetic tests (e.g. FV Leiden). Consent cannot be revoked after a test is carried out and results released or, if it is, this revocation has no real meaning. This paragraph should be deleted	This provision (if we assume that it means that written consent is required for every genetic test) will place a huge burden on genetics clinics and genetic testing laboratories, with absolutely no proven benefit to patients. With public health budgets under increasing pressure, this provision will, inevitably and undoubtedly, lead to fewer patients receiving the genetic tests they need. This is obviously harmful to patients. Allowing a written consent to be revoked orally puts clinical geneticists and laboratory staff in legal jeopardy, as the proof that the consent has been revoked cannot be as strong as the proof that consent was given.
	6. Testing of minors and incapacitated subjects. In case of minors the informed consent of the parents or legal representative or minors themselves shall be obtained in accordance with national laws; consent must represent the minor’s presumed will and may be revoked at any time, without detriment to the minor. In case of incapacitated subjects not able to give informed legal consent, the informed consent of the legal representative shall be obtained; consent must represent the presumed will of the incapacitated subject and may be revoked at any time, without detriment to the person.	This paragraph has dropped even the pretence of being a regulation of IVD devices. Again, the users of IVDs have no control over what happens between the clinician and his/her patient. It is entirely unclear who will be policing these proposed regulations. Clinicians are already bound by national laws; this does not need to be re-stated in an EU Regulation. Consent cannot be revoked after a test is carried out and results released or, if it is, this revocation has no real meaning. This paragraph should be deleted
	7. A device may only be used for the determination of sex in connection with prenatal diagnosis, if the determination fulfils a medical purpose and if there is a risk of serious gender specific hereditary diseases. By way of derogation of Article 2(1) and (2) this also applies to products which are not intended to fulfil a specific medical purpose.	This paragraph could (presumably inadvertently) outlaw large areas of current genetic testing practice. Gender-checking forms an important part of all prenatal karyotype analyses, even when no specific risk of a gender-specific hereditary disease exists. Increasingly, genomic tests which reveal the gender of the foetus are quite properly used in prenatal diagnosis. Derogations from the fundamental definitions of a medical device and an IVD medical device indicate either a deficiency in the definitions or a logical flaw in the proposed legislation. This derogation would be unnecessary if, as suggested by us and others, “lifestyle tests” and all predictive tests are included in the scope of the Regulation. This paragraph should be deleted	This provision would prohibit most or all prenatal diagnoses using genomic technologies, from karyotyping through to genome sequencing. It would also prevent the investigation of possible sample mix-ups at prenatal diagnosis – creating a clear risk of harm to patients.
	8. The provisions of this Article on the use of devices for the purpose of genetic tests do not prevent the Member States from maintaining or introducing for reasons of health protection or public order more stringent national legislation in this field.