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UN Programme on Disability   Working for full participation and equality

2001 Observance of the
International Day of Disabled Persons

International Day of Disabled Persons 3 December 2001

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


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.


  • 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].


  • 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].


  • 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].


  • 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.


  • 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.


  • The value of human diversity should be promoted not eliminated by discriminatory assessments based on gene selection [29, 30, 31].


  • 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.


  • 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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