Statens medicinsk-etiska råd
Council of Europe
Directorate General I – Legal Affairs
Re: Working document on the applications of genetics for health purposes
In order to obtain comments, the Council of Europe Steering Committee on Bioethics (CDBI) has agreed with the publication of the working document on the applications of genetics for health purposes, together with an explanatory note. The document is the result of the discussions so far of the Working Party on Human Genetics, and it is made public under the responsibility of the Party. The Swedish Council on Medical Ethics greatly appreciates the ongoing efforts of the Working Party and the CDBI, and wishes to extend the following comments that may be of use for the elaboration of an additional protocol to the Convention on Human Rights and Biomedicine.
In order to adhere to the terminology used in the document, our comments will refer to the “protocol” rather than to the “working document”.
The protocol is aimed at applications of genetics in the fields of health, employment and insurance. However, in our opinion there is a need to also cover existing or potential applications in educational settings, as well as applications under the auspices of public agencies, such as the justice system.
The protocol does not extend to research purposes that involves identified, or identifiable biological material, or personal genetic data. Presumably, such applications shall be covered by the additional Protocol on biomedical research, which is currently being examined by the CDBI for adoption. However, the demarcation between the two protocols is not entirely consistent, since Section V B of the present protocol is specifically addressed at research on gene therapy. It would be helpful if it were made clear how the two protocols complement each other. Such a statement might be included either in the first chapter of the protocol, or in an explanatory memorandum.
The formulations of the protocol need to be distinct, yet not specified in such detail that the applicability to different contexts would be compromised. It is indeed a challenge to find the right balance, so that the protocol will serve its intended purpose in the various member states. With this in mind, we see a need to better define the following concepts, which are central to the protocol.
Application of genetics. What is meant by genetic, genetic test, genetic data? The European Society of Human Genetics (ESHG), among others, has discussed how these fundamental concepts may be defined.
What is meant by identified versus identifiable human biological material? Which criteria to apply is something that is debated among medical law experts, as well as geneticists.
What is meant by an intervention concerning the human genome? The protocol seems to imply a type of application that is different from what may come into question with identified or identifiable human biological material.
Comments on specific articles
We assume that an extended explanatory memorandum will bring clarity to many of the following questions.
Article 6 – Information to be given prior to consent or authorisation
The information shall include (p.1) “the forms of support available”. It is our view that “support” also may include treatment and preventive measures, and that this should be made clear in the explanatory memorandum. According to (p.3) the information shall be given in a non-directive manner. We suggest the more realistic formulation “shall aim at non-directiveness”.
Article 8 – Persons not able to consent
The article stipulates that where, according to law, a minor does not have the capacity to consent to an application of genetics, that application may only be carried out with the authorisation of his or her legal representative (usually the parents). This is not entirely uncontroversial. Where preventive measures can annihilate otherwise severe ill effects of genetic disease, early detection is in the interest, and may even be considered a fundamental right, of the child. In such instances, it may be argued that a genetic application should not depend on an authorisation of the legal representative of the child.
There is a certain contradiction in (p.2), between the statement that genetic tests shall be deferred until the attainment of legal capacity, unless that delay would be detrimental to health or well-being, and the statement that the opinion of the minor shall be taken into consideration in proportion to his or her degree of maturity. Likewise, the restrictive view of article 8 may be in contradiction with the non-directiveness purported by article 6.
Article 9 – Quality of genetic services
We propose that genetic counselling is explicitly listed among the services that should be subject to quality regulation and control.
We have been made aware that there is an initiative and ongoing network within OECD, working for quality of genetic services.
Article 11 – Genetic counselling
It is our view that genetic counselling must be provided, and not merely offered. We agree with the formulation in the explanatory note that the extent and form of counselling might vary according to the particular application and its implications for the person concerned.
Article 12 – Respect for private life and access to the results of an application of genetics
According to article 12, the ground rules are that everyone has the right to know any genetic information collected about him- or herself, and that the wish not to be informed shall be equally observed. However, according to p.4, in exceptional cases, national law may provide restrictions concerning a persons right to know and not to know. The explanatory memorandum should provide some guidance as to what might constitute such an exceptional case.
Article 18 – Tests directly sold to the public
We are in favour of Alternative C: Where the law permits direct sale to the public, there shall be adequate regulation, in particular to ensure proper information and understanding of the implications of the tests by the person concerned. We wish to stress that we see great dangers with genetic tests being directly sold to the public. However, we do not believe that a strict prohibition (Alternative A) would be meaningful, since the international market and sales through the internet are already upon us. Likewise, we do not believe that it is possible to successfully enforce Alternative B, requiring that commercial retailers meet the same service standards as the health related services. Thus, favouring Alternative C reflects a purely pragmatic standpoint, and we would recommend all member states to surround direct sales to the public with the strictest possible regulation.
Article 20 – Scope of Section IV – Genetic screening for health purposes
We recommend that Article 20 be reformulated to explicitly state that all requirements that apply to individual tests and testing shall apply to genetic screening programmes as well. By doing so it will be made clear that Article 21 presents a list of additional requirements.
Article 21 – Additional criteria to be met before performing screening
We are pleased to note that the protocol sets strict and scientifically sound criteria for screening programmes, well in keeping with those of the WHO, which were first formulated by Jungner and Wilson, in 1968.
Article 27 – Intervention on the human genome
We assume that Article 27, and all of Section V B, refers to interventions in clinical research, and not in basic science. We assume that basic scientific research in this area may also be conducted, under the provisions of the Protocol on biomedical research. We do not wish to categorically and forever rule out the possibility of conducting basic scientific research on modification in the genome of germ cells.
Article 28 – Assessment
We propose that the explanatory memorandum underlines that the committees need to have expertise on ethics.
Article 30 – Long term follow-up
For persons who are still of reproductive age, the follow-up after gene therapy should include the next generation.
On behalf of the Swedish National Council on Medical Ethics,