by Dr. Angus Clarke, Institute of Medical Genetics,
University of Wales College of Medicine
Dr. Clarke began by stressing that disability is not just about genetics, which may only be a small contributor to many impairments. However the issues raised by genetics in disability serve to sharpen concerns about disability in general.
He outlined the uses of genetic testing and his concerns about how it is developing. He stressed that genetics is not just prenatal screening and the selective termination of undesirable pregnancies.
He examined the different uses for genetics, the arguments that have been used to justify reproductive screening programs, and the problems that have been identifies within such screening:
Genetics - areas of involvement
- predictive testing of people who already have some known disease or condition in their family
- diagnostic testing of people with symptomatic problems and seeking diagnosis
- surveillance for complications of a genetic condition, such as a family history of cancer
- molecular genetics: the "new genetics", understanding our DNA. This is the ability to dissect our genes and understand which genes contribute to which diseases. Some scientists see this as the 'end of the rainbow' promise for the cure of all diseases. Dr. Clarke cannot wholly agree with this but sees some therapeutic benefit from understanding certain genetic conditions.
- reproductive genetic screening, of which there are two main types:
- (i) carrier screening for specific genetic disorders known in the family (e.g. sickle cell anaemia or cystic fibrosis)
- (ii) pre-natal screening (e.g. for muscular dystrophy or Down's syndrome)
Studies of reproductive screening programs
Two arguments that have been used to justify reproductive genetic screening
- the cost benefit analysis (i.e. comparing the cost to health services of screening and selective abortions with the cost of caring for disabled people)
- "informed reproductive choices" (many professionals argue this is of benefit to the family)
Problems that have been identified within such screening:
- parents can be made very anxious by testing and are often led (almost coerced) into tests without understanding the direction in which they may eventually lead - on a kind of conveyor belt of testing and perhaps termination
- poor predictors: the lack of reliability and accuracy as to the severity of a condition cannot validate the reactions to it and cannot predict how it will impact on one's life
- there is some distinction between pre-natal testing of a specific condition where it is known to exist in the family and parents have a genuine concern and widespread pre-natal screening offered to women as routine with no previous concern or anxieties
- indirect impact of social stigmatisation and discrimination
Both these models (cost benefit analysis and informed reproductive choice) ignore important dimensions
- impact on individuals with the conditions - on the individual and their families
- impact on women as a whole - and the whole experience of pregnancy
- that the worth of a person's life cannot be reduced to the costs to health services or society
- casualties of screening - people who get caught up in the process and regret it. For example, if an unusual chromosome is made evident in the testing and parents then panic seeking a termination without understanding the issues. There is a lack of support for parents as to what to do with the information given as a result of the test. The regular pattern is that a termination is encouraged if an impairment is found. In statistical terms however, they are counted within what is considered successful screening
- health service staff - obstetricians etc. often know very little about certain conditions. Geneticists who do have this knowledge are removed from the testing procedure as this is fairly straightforward an now carried out by clinic nurses and midwives.
Disease & Disability
The experience of families who have seen the progressive illness and death of a child as a result of a particular condition and who decide to test future pregnancies to avoid the situation of another child having to go through the same thing does not devalue affected persons.
This does not apply to the context of conditions, which do not have such serious impact on one's physical health or are non-progressive.
Genetic dissection of common complex disorders
Common complex disorders include the common cancers, dementia, diabetes, heart disease etc. The scientific justification for studying these diseases (molecular genetics) and identifying which genes contribute to them is that it can lead on to an improved understanding of the disease and then better therapies.
This same information can also be used to test people to see who is likely to develop a disease. No such scientific justification exists for the development of such tests. Here, the justification is that people may be able to alter their lifestyle or diet and reduce the possibilities or effects of the diseases. However, there is a paradoxical effect as some people may not respond in this way and be fatalistic in their attitude, whether diagnosed as 'high' or 'slow' risk. Such screening may therefore be unhelpful but one can imagine commercial and professional pressures to use it in such a way. This approach risks ignoring the collective, environmental approach to tackling these disorders.
In addition, this information could potentially be used in damaging ways, e.g. compulsory screening in order to get life insurance.
Some testing is industry driven, for example, the introduction of serum screening against Down's Syndrome has been quite blatantly pursued by people in whose commercial interests it is to offer the test, using the threat of litigation in areas where the health authority decided not to offer the test.
Human Genome Diversity Project
This refers to the general analysis of human populations through the collection of samples from very small groups in places such as Borneo an the Amazon or Alaska, thereby tracking the movement of Homo sapiens around the world from its origins, probably in Africa. Concerns were raised about the sort of consent these people are giving for their samples to be taken; and is it going to be used to bolster racism? It was introduced without adequate sensitivity to the deep ethnic and political issues it has opened up.
Genetic dissection of non-disease characteristics
This is the study of genetic characteristics such as IQ, personality, stature etc. This academic exercise ignores the social consequences of dealing with such qualities which are given high value in society and ignores the potential mis-application of that information.
Gene Mutations - Genetic Engineering
In single gene diseases where the gene mutates, such as Huntingdons & Cystic Fibrosis, it is possible to predict to a certain extent how severe the disease may be and this can be used to guide treatment decisions. The problem here is that this information often is not communicated to parents.
Issues of Concern
- danger of commercial pressure to introduce more widespread testing than is known to be helpful. The technology is such that many tests can be created but society has not actually demanded them nor knows how to deal ethically with the results
- promotion of testing without counselling including positive as well as the negative aspects. Reactions to screening based on myths, fears and stereotypes not rational discussion
- unregulated/inadequately regulated testing and the improper marketing of genetic tests
- testing for non-disease traits
- ignoring collective, environmental approaches to health issues and disability issues by focusing on individual testing and solutions
- ignoring the social consequences and mis-applications of the information
- reducing an individual's worth to monetary terms or other quality of life issues
- potential reinforcement of racism and discrimination against those with genetic conditions or other disabilities
- consent to passing on information about one's genetic make-up to other people
- type of consent you need in order to take samples, including from adults who are not in a position to understand what is going on
- tension between the need to respect a woman's reproductive choice and the question of how one values and respects people with impairments and disease. Society does not appear to be able to balance this
- it would be improper to promote genetic screening and selective termination if the fact of genetic screening reinforces society's discrimination against affected individuals. Terminations carried out because of fears of social intolerance (rather than physical suffering because of a specific disease) then become self-fulfilling prophecies that damage the welfare of others.
continued...Issues Arising from Quality of Life, Cunningham-Burley