2001 Observance of the
International Day of Disabled Persons
United Nations expert group meeting on disability-sensitive policy and
programme monitoring and evaluation
UNHQ, New York, 3-5 December 2001
Human Genetics Research and Practice:
Implications for People with Disabilities*
January 14, 2002
Denise Avard, Ph.D.
Centre de recherche en droit public
Faculty of Law
Université de Montréal
Tel:514-343-7702
Fax:514-343-2122
denise.avard@umontreal.ca
Introduction
The Human Genome Project, the international effort to map the entire human genetic
code, will lead to the identification of genetic variants that may vastly expand our
understanding of how certain illnesses or diseases are developed. It is anticipated that
these developments offer enormous potential to extend lives, to expand reproductive
choices, to reduce the burden of genetic diseases, and, to transform clinical services [1].
Although genetic research and practice can open the door to a better understanding of
disorders and disabilities, it is also an area of controversy. It raises social, ethical
and legal concerns, for instance on the ethics of prevention of disability. Inclusion
International, a non-governmental organization representing organisations from over 115
countries, and promoting the inclusion of persons with intellectual disabilities, has
expressed its concern regarding the risks of genetic technology by stating that:
" There is the potential for this impact to be positive, providing new treatments
and supporting people's choices about their health and reproduction. However, in light of
the widespread discrimination faced by people with disabilities, there is danger that
these developments could be used in ways that restrict rather than enhance the rights and
choices of people with disabilities and their families" [2].
While genes do play a role in determining impairment, and some disorders such as
Duchenne's muscular dystrophy have a strong genetic component, there is a growing
awareness that disability is more than the outcome of a genetic abnormality. It is the
interaction between physical, social, economic, and genetic features, which contribute to
the outcome called "disability". This is recognized by others and by the World
Health Organization's (WHO) in their classificatory tool, the International
Classification of Functioning, Disability and Health [3, 4, 5, 6].
This paper will provide examples of key concerns that genetic testing poses for people
with disabilities. The ethical concerns associated with genetic research and genetic
testing have been acknowledged in several international and national policy statements and
will be briefly discussed.
Overview of Concerns
Although the knowledge of genetic information can predict or confirm the presence of
specific and often rare, hereditary diseases, it usually predicts a risk of developing a
specific disorder. To obtain this genetic knowledge genetic testing has spurred the
development of the so-called DNA chips which make possible testing for multiple genetic
conditions with a single test.
Individuals undergo genetic testing for the following reasons:
- To acquire knowledge/information for reproductive reasons including: pre-natal screening
(e.g. muscular dystrophy or Down's syndrome); and carrier screening for inherited
disorders e.g. Tay-Sachs, cystic fibrosis (the carrier has one mutant gene, which can be
transferred to the next generation, but the carrier is not affected by the disease).
- To confirm a diagnosis; and
- To predict a disease before the symptoms develop at a later stage in life, or to
identify whether they are predisposed to a genetically determined disease or late-onset
conditions such as breast cancer, heart disease, schizophrenia, and depression.
The ability to test for many disorders has the potential to reduce the burden of
genetic disease. However, these technologies, in particular predictive genetic testing,
have the potential to expand the category of people labelled as having a disability [2, 7]. They also raises ethical concerns about selective
abortion, thereby further labelling disabilities as negative and unwanted.
A major issue is the fear that a genetic approach to disability will reinforce the
medicalization of disability and divert attention from the socio-cultural model of
disability. It is important to note that two major conceptual perspectives currently
divide the disability debate. One group endorses the view that disability is imposed by
social prejudice and hence genetic testing may even aggravate the social injustice.
Another group adopts a medical model of disability and sees a role in identifying the
underlying possible medical cause as a way to fight disabilities [5].
With such radically different perspectives, it is not surprising that views of persons
from the disability rights, medical genetics, law, humanities and ethics often fail to
reach consensus, as for example in the case of reproductive testing [8].
In addition, as more and more investigators search for a relationship between genetic and
behavioural variations, people with mental disabilities and with conditions as,
schizophrenia, learning disabilities and mental retardation may increasingly become the
target of genetic research [9, 10, 11].
Interestingly whether genetics will have a role to play and the ensuing socio-ethical
concerns are presently the subject of a major consultation by the Nuffield Council of
Bioethics [12]. There is little doubt that individuals with mental
disabilities or predisposed to mental illness are already confronted with stigmatization
and discrimination, and therefore genetic research in this area is potentially a source of
controversy and concern because it could contribute to further stigmatization [13]. Moreover, genetic research involving people who vary considerably in
their mental ability raises unique issues regarding informed consent. For instance, how is
a person's ability to give consent assessed? Who decides for those who are unable to
decide for themselves?
Other ethical concerns have been expressed. These can be grouped under human right
issues of: non-discrimination; justice; diversity; autonomy/informed consent; and
participation. These concerns will be discussed below.
Non-discrimination
- A major question is whether the goal of reproductive screening is to increase
reproductive choice or to reduce disabilities. This question raises important ethical
dilemmas about selection and responsibility. Should physicians offer prenatal genetic
screening to all pregnant women? Is the goal of prenatal testing/screening: to increase
reproductive choice or to reduce disabilities? An extreme example, which causes a lot of
concern, is a recent decision of France's highest court to provide compensation to a boy
born with Down's syndrome. The parents sued the doctor, who had failed to detect that the
foetus had Down's syndrome following prenatal testing [14]. According to
some disability advocates this dangerous precedent can be interpreted as reflecting
contempt for handicapped children. They see the use of selective termination of a
pregnancy as devaluing certain individuals and reinforcing society's discriminatory
attitude towards them [7, 15]. On the other hand,
prenatal testing potentially enhances choice by providing women with information to help
her evaluate the risks during prenatal diagnosis and with this decision provides a direct
recourse by the child as opposed to the parents for when damages will no longer be paid
when the child reaches the age of majority.
- There is a fear that focusing on the genetics of disabilities will divert attention from
the economic, political, environmental and social factors, and jeopardise the progress
achieved by the 'community of rights' for people with disabilities [2, 7, 16]
- As with other areas of genetic diagnosis on any citizen, genetic testing may invite
discrimination against those with a genetic condition or disabilities and reinforce
negative attitudes towards disabled people in society [17]. Moreover,
employers and insurers could use genetic information to deny a job or to restrict
insurance [16, 18, 19].
- Often the genetic test is offered on a belief that disabilities are a source of negative
experiences. For instance, it is often assumed that people with disabilities lead painful
and frustrating lives and their disability comprises their quality of life and is a source
of suffering [20, 21]. However, people with
disabilities often interpret their condition differently and point to fulfilling and happy
lives [15]. Given that medical professionals may differ in their
understanding of how disabilities may influence the lives of individuals and their
families, and given the tendency to treat disability as a medical problem rather than a
social one, participants in testing may be guided into making a decision based on a
negative view of disabilities. For instance, obstetricians bring their own beliefs, values
and experiences into the medical diagnosis and are more directive about their options,
compared to genetic counsellors who are more supportive and open to helping clients
(disabled or not) make choices [15].
- An important issue is the lack of consensus about what constitutes a disease or an
illness and what constitutes a serious disorder [22]. For example,
consider the conditions like cleft lip palate, hereditary deafness, Down syndrome, sickle
cell anaemia, which were reported as "serious" by some health professionals
while others considered them less serious [23]. Similarly, within the
disability community a diversity of views exist. For example, in the deaf community, some
see cochlear ear transplants as a means of integrating children into the hearing community
whereas others consider this approach as "genocide". Others are keen on prenatal
testing to avoid having children with disabilities, while others view this as less
desirable [15]. Because of such variability, it is important to be aware
of who constructs these definitions, who decides, and, whose purposes they serve.
- Some disability advocates distrust the medical bioethics community and the ethics
committees. For instance, some suggest that ethics committees are dominated by health
professionals and by bioethicists' who are more concerned about eliminating birth defects
and abnormalities rather than addressing the disparities experienced by people with
disabilities[24].
Justice
- In the context of genetics, the principle of justice affirms fairness and equality for
both living persons and for future generations. There is concern that genetic information
may be used to diminish this justice by denying access to health care, or access to life
insurance of affected people, or to hold individuals responsible because they allowed for
example the birth of a disabled child. This is particularly relevant with the rising
pressures on health care budgets and the resulting debates about allocation in health care
[2, 7].
Diversity
- Prenatal testing may signal intolerance to diversity suggesting that some individuals
are too flawed to exist [7]
- There is a risk of promoting biological determinism, which means reducing a disability
to a genetic flaw thereby framing disability as a medical problem [7, 16].
- There is a fear that genetics will place the emphasis for prevention on the individuals
and overlook the wider social, economic and cultural contexts [25].
Autonomy / informed consent
- Genetic research is an important foundation upon which progress and benefits are likely
to occur. A key issue around research is the importance of giving consent to participate
in the process. Vulnerable populations often experience direct or indirect coercion and
their participation in research studies requires special protection. Additionally, to
ensure the consent is voluntary, researchers need to be sensitive to the capacities of
people with disabilities, including persons who are cognitively impaired, those who suffer
from a mental disorders or because of their particular circumstance feel devalued [26].
- Although prenatal testing for disability may allow greater choice, it is feared that
this may allow parents too much freedom in deciding, not only when and how many children
they want, but also what type of children they want [8].
Participation
- Too frequently the experience and views of people with disabilities have been ignored
and disregarded in respect to the medical or social issues in which they are directly
involved [7, 10]. Increasingly they are insisting that
they be heard under the motto: "Nothing about us, without us" [4,
6].
Policy Statements
These socio-ethical concerns are not restricted to one culture or country, and a number
of policy statements have been formulated at the international, regional and national
level to protect the rights and fundamental freedoms of individuals concerning clinical
genetics and genetic research. The following policy statements do not reflect an
exhaustive review, but are indicative of current efforts to recognise that the human
rights of people with disabilities are respected.
Non-discrimination
- The Americans with Disabilities Act (ADA) offers individuals currently affected by a
genetic condition or regarded as having a disability protection from discrimination based
on their disability. However, a debate is ongoing and ethical concerns are raised about
the interpretation of the ADA. Does it extend coverage to people who have genes making
them predisposed to disease causing disabilities and genes that are likely to be expressed
in middle adult life e.g. Huntington's disease? What about conditions with a genetic basis
that are stigmatizing but do not limit life, such as Down syndrome or Tourette syndrome.
What about the group of people who are carriers of recessive genes such as cystic
fibrosis, sickle cell anaemia, and who may transmit this gene to their offspring, but will
never develop the conditions themselves [27]?
- Genetic counselling for testing or treatment should be non-directive and freely
available. It should never be based on a negative value judgement about people with
disabilities but rather reflect positive images of people with for example mental and
intellectual disabilities. What if individuals want more guidance, especially when faced
with probalilistic information? [28].
- Insurance providers should be prohibited from using genetic information to deny, limit
coverage, and eligibility.
Diversity
- The value of human diversity should be promoted not eliminated by discriminatory
assessments based on gene selection [29, 30, 31].
Justice
- There should be programs of research, prevention and access to care and treatment for
people affected by disability based on a genetic trait [29, 32, 33].
Autonomy/informed consent
- There should be no pressure on anyone to perform prenatal testing, especially not by
authorities, experts or the public. There must be a free and informed choice with prenatal
diagnosis [28].
- Women's right to choose with respect to their pregnancy should be supported [28, 34].
- There should be support services, good communication and access to accurate information
for people with disabilities and families [32].
- A multidisciplinary approach to help families understand facts and alternatives is
recommended.
Participation
- Disabled people should be encouraged to be on advisory, regulatory and policy-making
bodies to make these bodies more representative and accountable [30, 35].
- In some circles it has been recommended that the social implications of the new genetics
should be monitored separately from the genetics/bioethics "establishment" [30, 35] However, this would not be a proper basis for
integration and normalization and genuine collaboration between all groups should be
encouraged.
Concluding Remarks
Genetic testing and research along with other developments in biotechnology present
complex social, ethical and legal challenges. The main purpose of this paper is to present
emerging socio-ethical concerns regarding the possible role genetics will play in the
lives of persons with disabilities. Many of the concerns about the impact of human
genetics tend to focus on genetic testing and in particular prenatal testing and
screening. Although genetic technology will remain and will play an important and
promising role in medical science, there is a need to recognize for all citizens but
especially for persons with disabilities that advances in human genetics raise ethical
issues regarding their rights to justice, diversity, non-discrimination, autonomy,
informed decision making and participation. These issues need to be addressed together by
health professionals, bioethicists and people with disabilities. To achieve optimal
success in the area there is a need to listen to the people with disabilities who lack a
voice and are not consulted sufficiently. It is also important to recognize that within
the policy area the concerns raised by genetics and other biomedical technologies should
be accompanied by policies protecting the fundamental rights of people with disabilities.
* The views expressed are those of the author and do not necessarily
represent those of the United Nations Secretariat. This document has not been formally
edited.
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References
1. Scriver CR. (2001). Genetic Disease: An Orphan in Canadian
Healthcare. Canadian Journal of Policy Research 2:113-8.
2. International League of Societies for Persons with Mental Handicaps.
(1994). Just Technology? From Principles to Practice in Bio-Ethical Issues Roeher
Institute: Toronto.
3. World Health Organization. (2001). The International Classification
of Functioning, Disability and Health-ICF Geneva: WHO.
4. Shakespeare T. (1998). Choices and rights: eugenics, genetics and
disability equality. Disabil. Soc. 13:665-81.
5. Koch T. (2001). Disability and difference: balancing social and
physical constructions. J. Med. Ethics 27:370-6.
6. Oliver M. (1998). Theories in health care and research: theories of
disability in health practice and research. BMJ 317:1446-9.
7. Roeher Institute. (1999). Genome(s) and Justice. Reflections on a
Holistic Approach to Genetic Research, Technology and Disability Toronto: Roeher
Institute.
8. Parens E, Asch A. (1999). The disability rights critique of prenatal
genetic testing. Reflections and Recommendations. Hastings Cent. Rep. 29:S1-22.
9. Davis S. An Introduction to Genetics and Mental Retardation.
Genetic Issues in Mental Retardation 1[1], 1-4. (1996).
10. Diesfeld K. International Ethical Safeguards: Genetics and
People with Learning Disabilities. Disability and Society 14[1], 21-36. (1999).
11. McGuffin P, Martin N. (1999). Behaviour and genes. BMJ 319:37-40.
12. Nuffield Council on Bioethics. Genetics and human behaviour:
the ethical context, a consultation. http://www.nuffieldbioethics.org/behaviouralgenetics/index.asp.
(2002).
13. Nufffield Council on Bioethics. (1998). Mental Disorders and
Genetics: the Ethical Context. Nuffield Council on Bioethics, London.
14. Dorozynski A. (2001). Highest French court awards compensation for
"being born". BMJ 323:1384A.
15. Parens E, Asch A, Powell C. (2000). Reproduction, Ethics, Prenatal
Testing, and the Disability Rights Critique. In Encyclopedia of Ethical, Legal, and
Policy Issues in Biotechnology (Vol. 2), ed. TH Murray, M Mehlman, pp. 957-969. New
York: John Wiley and Sons, Inc.
16. Satz AB, Silvers A. (2000). Disability and Biotechnology. In Encyclopedia
of Ethical, Legal, and Policy Issues in Biotechnology (Vol. 1), ed. TH Murray, M
Mehlman, pp. 173-187. New York: John Wiley and Sons, Inc.
17. Reinders HS. (2000). The Future of the Disabled in Liberal Society
Notre Dame, Indiana: University of Natre Dame Press. 1-271 pp.
18. Asch A. (1996). Genetics and Employment. More Disability
Discrimination. In The Human Genome Project and the Future of Health Care, ed. TH
Murray, MA Rothstein, and RF Murray, pp. 158-172. Bloomington: Indiana University Press.
19. Wong JG, Lieh-Mak F. (2001). Genetic discrimination and mental
illness: a case report. Journal of Medical Ethics 27:393-7.
20. Harris J. (2000). Is there a coherent social conception of
disability? Journal of Medical Ethics 26:95-100.
21. Edwards SD. (2001). Prevention of disability on grounds of
suffering. Journal of Medical Ethics 27:380-2.
22. Reinders HS. (2000). Genetics and Prevention in Public Morality.
In The Future of the Disabled in Liberal Society, pp. 37-50. Notre Dame,
Illinois: University of Notre Dame Press.
23. Wertz DC, Knoppers BM. (2002). Am. J. Med. Genet. In
press
24. Kucziwski MG. (2001). Disability: An Agenda for Bioethics. Am.
J. Bioethics 1:36-44.
25. Taylor K, Mykitiuk R. (2001). Genetics, Normalcy and Disability. Canadian
Journal of Policy Research 2:65-71.
26. Kass NE. (2000). Human Subjects Research, Ethics, Informed Consent
in Research. In Encyclopedia of ethical, Legal and Policy Issues in Biotechnology,
ed. TH Murray, MJ Mehlman, pp. 611-622. New York: John Wiley and Sons.
27. Anderlik MR. (2000). Genetic Information, Legal, Genetics and the
Americans with Disabilities Act. In Encyclopedia of Ethical, Legal, and Policy Issues
in Biotechnology (Vol. 1), ed. TH Murray, M Mehlman, pp. 468-478. New York: John
Wiley and Sons, Inc.
28. Group of Advisers to the European Commission on the Ethical
Implications of Biotechnology. (1996). Ethical Aspects of Prenatal Diagnosis.
European Commision, Bruxelles.
29. UNESCO. (1997). Universal Declaration on the Human Genome and
Human Rights. UNESCO, Paris.
30. Disabled People International. (2000). DPI-Europe Position
Statement on Bioethics and Human Rights. Disabled People's International Europe,
London.
31. World Association of Children's Friends (AMADE). (2000). Monaco
Statement: Considerations on Bioethics and the Rights of the Child. Monaco.
32. UNESCO International Bioethics Committee. (1995). Bioethics
and Human Population Genetics Research, 3° session of the IBC. UNESCO,
33. National Society of Genetic Counselors. (1995). Taking a Stand.
Wallingford, Pennsylvania.
34. National Down Syndrome Congress. Position Statement on
Prenatal Testing and Eugenics. Families' Rights and Needs. http://www.ndsccenter.org/old/eugenics.html.
(1994).
35. British Council of Disabled People. The New Genetics and
Disabled People. www.bcodp.org.uk/general/genetics.html.
(2000).
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