REPORT
Workshop ‘Genetic testing:
challenges for society’
Organised by European patients’ organisations
(EAGS, VSOP and EURORDIS)
and
the European Federation of Pharmaceutical Industries
and Associations
24 September 2001, Brussels
Programme
Chairman: Mr A. Kent (European Alliance of patient and parent organisations for Genetic Services and innovation in medicine EAGS)
12.00h Welcome (coffee and sandwiches)
13.00h Opening by Mr B. Ager (EFPIA)
13.05h The European Parliament Temporary Committee on Human Genetics and other New Technologies in Human Medicine, by Mr T. Grunert (Secretariat of the Temporary Committee)
13.25h Questions & discussion
13.35h Genetic testing: state of the art, by Dr K. Lindpaintner (Head of Roche Genetics)
13.55h Ethical aspects of population screening, by Prof. Dr J.J. Cassiman (Center for Human Genetics, Leuven, Belgium)
14.15h Questions & discussion
14.25h Public attitudes and debate on genetic testing, by Dr K. van der Bruggen (Rathenau Institute, Neth.)
14.45h Genetic tests and insurance, by Mr R. Walsh (Association of British Insurers)
15.05h Questions & discussion
15.15h Coffee break
15.45h Panel discussion with Ms H. Tybkjaer (European Cystic Fibrosis Groups),
Dr J. Cream (Alzheimer’s Society, UK), Ms L. Cordier (European Commission DG Research, Dir. Science and Society) and all speakers
16.45h Conclusions by chairman
17.00h Close
Alastair Kent European Alliance of patient and parent organisations for Genetic Services and innovation in medicine (EAGS)
Cees Smit Dutch Genetic Alliance (VSOP)
Carol Youngs EURORDIS
Erica Poot European Federation of Pharmaceutical Industries and Associations (EFPIA)
Silvia Matile Steiner Roche
Conclusions
By Chairman Mr
A.Kent (EAGS)
On 24 September 2001, European patients’
organisations and the European Federation of Pharmaceutical Industries and
Associations (EFPIA) held a workshop with EU decision-makers, scientists,
patients’ organisations and industry representatives to examine societal implications
of genetic testing. The meeting, held at the request of patients’
organisations, aimed to contribute to the debate about genetic testing,
currently taking place at EU level. This note summarises the main points that
were made by the speakers and during the discussion.
Medical information arising from the use of molecular genetics (DNA analysis) will, in most cases be used in conjunction with other types of clinical data. This will improve the accuracy of diagnosis, refine the effectiveness of treatment and improve prediction of future health and disease status. The integration of the new technologies into clinical practice is and will be evolutionary not revolutionary for medicine, as most genetic information is just another category of medical data.
For the foreseeable future, the most obvious application of genetic data (from whatever source) will be with respect to those affected by serious disorders caused by mutations (changes) in single genes. The potential impact of the information revealed by genetic diagnosis means that special care and support need to be in place for those receiving the information, before, during and after the diagnostic process.
The demonstration of the links between genetic factors, human health and disease is often portrayed as anxiety provoking. For single gene diseases, these links may raise issues, which can challenge the ethical and moral codes of individuals or groups in society. In general, it is important to recognise and differentiate between those issues that are covered by existing regulations (e.g. Data Privacy Directive, Clinical Trials Directive), those that can and should be assimilated into existing regulatory processes for clinical research and practice, and those which may require special regulatory steps to be put in place (e.g. against unfair discrimination).
Issues which are thought to challenge ethical principles are not perceived uniformly throughout the EU. What is acceptable and legitimate in one country may not be in another. Rather than seek uniformity where none can exist, European Institutions should recognise diversity and acknowledge the legitimacy of any due process in the different member states and respect decisions reached as a result.
European legislation and regulation of genetic issues in medicine should be confined to those areas where it may be appropriate, such as the maintenance of quality and efficacy standards for tests and laboratory services. Regulation should not be extended to areas where either existing legislation is already in place, nor where the knowledge base is changing rapidly, nor where ethical beliefs are in conflict between member states, communities or religious groups. An example of the latter being research and treatments involving the use of materials derived from embryonic or foetal materials.
Measures to protect those at genetic disadvantage from unfair discrimination should be appropriate and proportionate. They should consider the nature of the information and the context in which it is applied rather than the route by which it was obtained. These will differ in member states and this needs to be respected. For example, the appropriate use of genetic data in insurance will be affected by the extent to which insurance is used to promote the principle of solidarity or derived from competition driven system.
In considering the issues raised by genetics in health care, the potential for benefit in terms of better health and the development of improved treatments and cures for many serious disease must not be lost. Unnecessary barriers must not be erected that will hinder or prevent the development of this potential.
Finally, it must not be overlooked that research has demonstrated that the general public is often more supportive of medical genetic research than was thought to be the case. Whereas there can be some differences on specific issues these should not be exaggerated in the process of the debate.
Report
The European
Parliament Temporary Committee on Human Genetics and other New Technologies in
Human Medicine
Mr T. Grunert
Mr Grunert gave an overview of the activities of the European Parliament Temporary Committee on Human Genetics and other New Technologies in Human Medicine. This committee is responsible for:
The Temporary Committee has been focusing chiefly on two areas, namely diagnosis (genetic testing) and therapy (cure and treatments) on the one hand, secondly, financing of research under the 6th Framework Programme and the patentability of products and processes derived from biological materials.
At present there are no common European rules or regulations to guarantee that genetic testing services will conform to a minimum standard. Although genetics specialists and professional organisations have made many moves to promote quality assessment, genetic testing services are provided under widely varying conditions and regulatory frameworks in the individual Member States. In the field of genetic testing, the Committee’s rapporteur Mr Fiori proposes to lay down a harmonised regulatory framework on genetic tests (incl. quality and safety, informed consent, genetic counselling, prohibiting discrimination, setting up a European laboratory network to cover rare diseases, etc.) and to prevent that genetic tests are used for other than medical or medical research purposes. According to Mr Fiori, insurance companies should in no way be entitled to request that genetic testing be carried out or that the finding of genetic tests already conducted be passed on to them.
[On 29 November 2001 the European Parliament rejected Fiori’s report in plenary session]
Dr K.
Lindpaintner
1.
Take-home
Points
Genetics is
a fundamental component of the biology of all living organisms. As such,
understanding its role in and its contribution to disease and health is
essential. Thus, by providing us a more differentiated, molecular understanding
of pathology and drug action, genetic and genomic strategies and technologies
will advance medicine and hold the promise of better diagnosis, treatment, and
possibly prevention or cure of many, presently incurable diseases.
Molecular
diagnostics will become more and more important in clinical risk prediction and
in differential diagnosis for common complex disorders. Progress in
pharmacogenetics and proteomics (determination of
genetic variation in drug response) is expected to open new medical treatment opportunities. However, the
new technologies are not a panacea and not the answer to all questions. We caution against overestimating their potential contribution. Progress will not be as quick as
commonly projected; the genome projects current accomplishments are but a small
step towards the ultimately critical understanding of gene function. The first
major impact is expected in the area of diagnostics, as a better understanding
of disease pathology, i.e. permitting a more sophisticated differential
diagnosis. Thus, the practice of Medicine will certainly be impacted, but in a
step-by-step, evolutionary manner.
2. Definition of "Genetic Testing"
The term “human genetic testing” is
commonly used to describe the many ways to analyze human genetic material
(DNA), or, in other words, it is the determination of the sequence or
composition of a particular region of someone’s genome. Genetic testing is best
seen as an extension of existing diagnostic methodology based on the analysis
of DNA and chromosomes and capable of providing additional understanding of
disease aetiology and predisposition. However, there are numerous other methods
to get genetic information concerning individuals (e.g. bioassays, biochmeical
tests for tuberous sclerosis, plasma-protein assays for cholesterol, LP(a),
ApoE, familiy history for Huntington's disease).
3. Impact of Genetic Testing
Public perception is mainly focused on rare monogenic diseases. However, the vast majority of patients are affected by common complex diseases for which inherited factors only contribute as but one element of disease etiology and where genetic tests will never provide us with the kind of categorical answers typical for single-gene diseases. The risk contribution imposed by inherited factors is likely to be comparable in magnitude to that contributed by external and life-style factors. Therefore, the impact of tests will typically not differ from that of currently used, conventional medical tests, such as those for blood pressure or cholesterol level.
4. Use
of Genetic Data
Genetic data are but one aspect of personal
medical data. The focus on data protection will limit the utility and the use
of information to patients' benefit. The principle of confidentiality of
all medical information (data protection) has to be respected and
safeguards should be in place to prevent any inappropriate discrimination
against individuals based on their present or future health status, and on
medical data (patient protection). Dialogue among all stakeholders is needed, including patient advocacy groups, health care providers
(such as physicians, nurses, pharmacists), the life and health-insurance
industry, ethicists, politicians, government representatives, and the
pharmaceutical and diagnostics industry, to
jointly find consensus on what uses of medical information derived from
clinical studies and diagnostic tests, should be recognized as providing
individual and societal benefits, and thus be endorsed and explicitly
permitted, and conversely, what uses should not be permitted. Such consensus
will define best practice principles, ensure high ethical standards,
and – by actively protecting the individual patient - will help allay concerns
about possible misuse of medical data. Just as it is impossible to
separate genetics from biology, trying to separate out genetic information from
other medical data and attempting to regulate genetic applications in research
and medicine differently will only hamper our progress.
Prof. Dr J.J.
Cassiman
Center for
Human Genetics, Leuven, Belgium
Prof. Cassiman explained that genetic screening may be defined as any kind of test performed for the systematic early detection of exclusion of a genetic disease, the predisposition or resistance to such a disease, or to determine whether a person carries a gene variant which may produce disease in offspring. Screening may be concerned with the general population or with specific sub-populations defined on some basis other than their health.
Genetics screening is increasingly possible for a large number of disorders. The question of whether or not this approach should be offered at the population level is a challenge to health care providers, the medical community and policy makers. Genetic screening can be of benefit but can also do harm. The availability of genetic tests at low cost may lead to the systematic offer of screening tests without the appropriate medical environment for providing information prior to testing and counselling afterwards. There is therefore a need to introduce effective and acceptable safeguards, standards and procedures relating to implementation and organization of genetic screening programs.
The benefits of genetic screening include pre-symptomatic detection of diseases or susceptibility to diseases for prevention, early diagnosis, care and treatment; the detection of genetic predisposition to adverse effects of environmental factors facilitate avoidance of harm, and detection of carrier status to enable reproductive or lifestyle decision. The possible detrimental effects of genetic screening include anxiety raised by information which cannot be used to make positive personal choices about therapies or preventive measures, or which is difficult to understand and interpret; undue pressure on individual choice; social stigmatisation of persons at increased genetic risk; disclosure of information about family members who have not consented to testing; misuse of the information and discrimination based on the test results after disclosure to third parties such as insurers and employers.
A screening programme should be considered only if there is general agreement on the benefits expected from the programme (by patients, professionals and the community); there is an important health problem in terms of number of people affected or severity of the health problem; there is an effective intervention or a decision to be taken by the person screened, dependant on the test results; there is a suitable test with known predictive value; benefits clearly outweigh harm (pilot first) and alternative options have to be explored.
Furthermore, the promotor of the screening programme should ensure equity of access, monitoring and the timely provision of treatment; guidelines must be produced prior to implementation, approved by independent bodies and lay organisations; any programme should include quality assessment procedures; counselling should be available, as well as the possibility of contacts with trained professionals.
(Based on the recommendations of the European Society of Human Genetics, established as part of a Biotech program financed by the European Commission; for further information: www.eshg.org)
Dr K. van der
Bruggen
Rathenau
Institute, the Netherlands
In some countries in and outside Europe recently opinion polls were organised to get a view on the opinion of the public on genetic testing. This led to some interesting results. In France 89% of the respondents wanted to know the genetic information of her or his marriage partner. In France and the United States almost one third of the population thought it would be good if government would demand genetic testing before approving a marriage. And about 40% of the people in all three countries were in favour of the obligation of prenatal diagnostics for people with a higher risk (source: Doroth C. Wertz, Irmgard Nippert, Gerhard Wolff, Ségolène Aymé, "Ethik und Genetik aus der Patientenperspektive: Ergebnisse einer internationale Studie", in: GenomXPress, nr. 1, 2001, p. 15-16).
In the Netherlands - as far as Dr van der Bruggen knows - no recent research has been carried out on the opinion of Dutch people on genetic testing. But there are other ways to get information about what 'lay' people think. For instance, in 1995 Rathenau Institute organised a debate on Predictive Genetic Research, where are we going. The debate was modelled in accordance with the Danish consensus conference. A panel of 16 laymen was well prepared during two weekends in which a long list of questions on genetic testing was formulated. About 300 interested people with a diverse background formed the audience in a public meeting, in which at regular intervals they could actively participate in the discussions. The debate resulted in a final document worded by the laymen panel, that at the end of the conference was handed to a member of the parliament. The document pleaded for more ethical deliberation on fundamental and applied research, further public debate and, as one of more specific issues, a proper protection of people against genetically oriented discrimination.
Following this public debate, Rathenau Institute organised a project aiming to describe important technological developments and possible political and social consequences. Furthermore, it was the intention to organise some debates with experts and lay people to discuss the results and the possible social and political implications. One of the studies included the normative aspects and societal and political consequences of predictive medicine for citizens. It appeared that especially this study caused a lot of opposition among geneticists and also among patient organisations. This project showed how debate on genetic testing can give rise to great emotions, which should not be underestimated by the relevant parties.
Genetic tests
and insurance
Mr R. Walsh
Mr Walsh gave a presentation on the approach of insurance companies in assessing risks and how genetic tests fit in with other kinds of medical information. He explained that insurance systems in Europe vary, because of different health service provision. Various aspects lead to different premiums, such as lifestyle, family history, medical history/tests, the environment and also genetic information.
The issues in the present debate are the scope of genetics, family history, expert views, affordable insurance, discrimination versus evidence base, adverse selection, technological change, supply of services and prevalence of testing. Mr Walsh regretted that in the present debate in the United Kingdom there is a lack of respect and mutual understanding. He referred to the recently adopted code of the Association of British Insurers on genetic tests and insurance According to Mr Walsh, the best way forward was to recognise the validity of difference, to guard against inequality of information in competitive systems and to foster a rational debate.
[In October 2001, the UK government decided to establish a moratorium on the use of genetic data for insurance purposes]
Presentation by
Ms H. Tybkjaer
Ms Tybkjaer
explained that Cystic Fibrosis is the most common inherited life threatening
disorder, caused by a defect in one single gene. Although advances in disease
management have improved significantly during the past 30 years the life
expectancy of CF-patient is reduced – CF children and adults still die
prematurely from Cystic Fibrosis.
Prenatal diagnosis
Before introduction of prenatal diagnosis, 83% of
the Danish CF families stopped reproduction after the diagnosis of a child with
cystic fibrosis. After the introduction of prenatal diagnosis the number of
families who chose to have more children after a CF diagnosis increased
significantly. Introduction of prenatal diagnosis thus permitted at-risk
families to have more children without the disease. However, responsibility for
making an informed choice should be theirs alone without any coercion
whatsoever.
In June 1990, a pilot project was launched in Denmark. 7,400 pregnant women without known risk for CF were offered a carrier test for CF. Of these women, 6,599 (90%) requested testing for cystic fibrosis. Three couples were found to be at risk of having a child with CF. After genetic counselling all three couples requested prenatal diagnosis. One foetus was diagnosed with CF and the couple chose to terminate the pregnancy.
The impact of carrier
screening was assessed in terms of anxiety, perception of health, reproductive
decisions, etc. in a study: “Psychological
and social impact of carrier screening for cystic fibrosis among pregnant women
– a pilot study”. Hans Clausen et al. Clinical
Genetics 1996. Important results of the study were that perception of
future health among the tested women did not change. Only 1% of the women
tested negative regretted being tested, whilst 92% did not regret the test.
Presentation by
Dr J. Cream
Alzheimer’s
Society, United Kingdom
Dr Cream said that the Alzheimer’s Society believes that the UK Government's decision to allow the insurance industry to discriminate against individuals with a known genetic predisposition is both premature and unjustifiable with our present genetic knowledge. The Alzheimer's Society believes that the UK Government's decision to allow insurers to take into account the results of genetic tests will have adverse consequences for people with Alzheimer’s disease. It will increase social exclusion, fail to protect consumers and contribute little to improving public health.
According to Dr Cream, there is no evidence to suggest that adverse selection poses any threat to the insurance industry. She also said that the participation of individual families has been tremendously important in enhancing our understanding of Alzheimer's to date. The Alzheimer's Society is concerned that fears of potential discrimination may deter people from taking a genetic test, which could be of benefit in the early detection of the disease and may also impede genetic research.
[In October 2001, the UK government decided to establish a moratorium on the use of genetic data for insurance purposes]
Presentation by
Ms L. Cordier
European
Commission DG Research
Ms Cordier’s presentation focused on the activities of the European Commission in the area of research (not on regulatory activities in the area of diagnostic or insurance).
Ms Cordier explained that research is supported by the European Commission in this area since 1991. Under the 5th Framework programme many projects are funded, for example, in the field of autism, deafness, diabetes. The European Commission has decided to focus its funding support to Genetics research through integrated projects in the area of “Functional genomics related to human health.”
Ms Cordier said that ethical reviews are systematically organised for all projects dealing with sensitive ethical issues that the European Commission intends to fund. The Commission considers research projects sensitive in case they include the recruitment of persons and families of persons suffering from pathology and the involvement of a population of certain geographical area for genetics epidemiology. All projects that have the purpose of developing a new genetic test undergo an ethical review.
There are two levels of evaluation: at the level of the project it self, and at the level of the use of the results. At the first level, the Commission encounters issues related to the recruitment of the donors of samples such as: contact with the family, communication with families of affected patients, information to be given to the donors of samples. Furthermore, one needs to address the question how to organise recruitment in order to respect the right to know, the right not to know, and the right to withdraw. The involvement of children raises specific questions. At the level of the use of research results, the main issue is assessing the social impact of making available a new diagnostic test. Here the involvement of genetic clinicians is very important.
The European Commission is supporting multicultural and multidisciplinary reflection on bioethical issues in Europe through the funding of research projects.
Ms Cordier gave three examples:
·
Genetics
and public and professional policy in Europe - EuroGAPPP
Co-ordinated
by Dr S. Aymé from the European Society for Human Genetics, this project
covered four topics: Genetic screening, DNA banks, Genetic testing at work and
for insurances, Genetic services.
The project
produced four background documents which are published on the website of the
European Society for Human Genetics (www.eshg.org)
four recommendations will be produced, two of them are already published in
Eur J Hum Genet.
·
“Consistency
in ethical reasoning concerning genetic testing and other health related
practices in occupational and non-occupational settings”
Coordinated
by Mr Karel Van Damme – KUL Belgium
·
Prenatal
testing for Huntington’s disease: the psychological, ethical and legal
complexity of prenatal testing for a late onset disease.
Coordinated
by Prof. Evers-Kiebooms – Centrum voor Menselijke Erfelijkheid
Through ethical
reviews and research in bioethics, the Commission aims to raise the awareness
of researchers on specific ethical issues arising in human genetic research.
The European Commission wishes not only to promote excellent scientific
research, but also responsible research.
Brian Ager European Federation of Pharmaceutical Industries and Associations (EFPIA)
Donnalea Barber European Diagnostic Manufacturers Association
Marie-Christine Bonnamour Comité Permanent des Médecins
Thomas Bregeon Aventis Pharma
Birgit Carly Europa Donna Belgium/CUH St-Pierre
Jean-Jacques Cassiman Center for Human Genetics, Leuven, Belgium
Laurence Cordier European Commission DG Research, Dir. Science and Society
Julia Cream Alzheimer's Society, UK
Magdalena de Azero European Federation of Pharmaceutical Industries and Associations (EFPIA)
Annette Dumas Merck Sharp & Dohme
Benjamin Gannon GlaxoSmithkline
Jean Georges Alzheimer Europe
Thomas Grunert EP Temporary Committee on Human Genetics and other New Technologies in Human Medicine
Matthieu Hornung Assistant to J-M. Dehousse MEP
Jolanda Huizer Dutch Genetic Alliance (VSOP)
Alastair Kent European Alliance of patient and parent organisations for Genetic Services and innovation in medicine (EAGS)
Klaus Knabner Schering AG
Joachim Kowallik AkzoNobel Int
Dagmar Kroebel Euro-Ataxia
Klaus Lindpaintner Roche Genetics
Carole Lochman Novartis
Silvia Matile-Steiner Hoffmann-La Roche
Christel Nourissier French Praser Willi Association/EURORDIS
Cor Oosterwijk Dutch Genetic Alliance (VSOP)
Diego Ossa Office of Health Economics, UK
IJsbrand Poortman European Alliance of Neuromuscular Disease Associations (EAMDA)
Erica Poot European Federation of Pharmaceutical Industries and Associations (EFPIA)
Aidan Power Pfizer
Paulina Taboada International Academy of Philosophy (IAP), Liechtenstein
Erik Tambuyzer Genzyme
Sally Taylor Assistant to J. Purvis, MEP
Hanne Tybkjaer Danish Cystic Fibrosis Association
M. van den Berg Assistant to Mr Blokland, MEP
Koos van der Bruggen Rathenau Institute, The Netherlands
Richard Walsh Association of British Insurers
Carol Youngs EURORDIS
Erik Wendel European Patients' Voice
For further
information:
European Alliance of patient and parent organisations for Genetic Services and innovation in medicine (EAGS)
Alastair Kent
C/o GIG, Leroy House
436 Essex Road
London N13QP
United Kingdom
Tel: ++44 207 704 31 41
EURORDIS (European organisation for rare disorders)
Carol Youngs
Broussais
batiment F.Gaudard d’Allaines
102 Rue Didot
75014 Paris
France
Tel: ++44 7836 674 641
Dutch Genetic Alliance (VSOP)
Cees Smit
Vredehofstraat 31
3761 HA Soestdijk
The Netherlands
Tel: ++31 35 603 40 40
European Federation of Pharmaceutical Industries and Associations (EFPIA)
Erica Poot
Rue du Trône 108
1050
Brussels
Belgium
Tel: ++32 2 626 25 55
Roche
Silvia Matile Steiner
Bld 21/122
4070 BASEL
Switzerland
Tel:
+41.61.687.28.64