Genetic Screening
The human genome project is a joint initiative on the part of the industrialised countries aimed at providing financial incentives to accelerate the process of charting human genetic material (DNA). The project has helped to identify, localise and clarify the structure of an increasing number of genes which play a role in the origin and development of disease (pathogenesis). This is leading to a greater understanding of genetics and, as a result, to improved techniques for diagnosing diseases, above all those in which genetic factors play a part. In the long term it will also provide aetiological insights which offer the prospect of improved scope for treatment.
The committee which has compiled this report on genetic screening welcomes this increase in knowledge. However, it does not close its eyes to the fact that, for human beings, the application of knowledge may have disadvantages as well as advantages. This applies to knowledge in general and to knowledge of genetics in particular. The early detection of hereditary diseases can reduce and prevent suffering. It can offer people choices in situations where previously their fate was preordained, yet it can also cause suffering. Moreover, the inaccurate interpretation of genetic information has caused a great deal of damage in the past. This is one of the reasons why the committee deals extensively with the possible advantages and disadvantages of genetic screening and with the conditions which must have been fulfilled before screening is carried out. One of these conditions is that those who participate in genetic screening must act voluntary, after proper information of what is involved. In order to guarantee that screening remains voluntary, the committee considers it vital that an adequate level of care for the handicapped be maintained.
Scope of the report
The committee has opted to define its remit broadly. It takes genetic screening to mean any kind of test performed for the systematic early detection or exclusion of a hereditary disease or a predisposition to such a disease, or in order to determine whether a person carries a predisposition which may produce a hereditary disease in offspring. All members of a predetermined target group are invited to undergo screening or urgently informed about it. In the case of screening it is the care system which takes the initiative; those invited have not (yet) been led to seek medical help
because of physical signs, symptoms or anxiety. The committee has also taken account of the family testing customarily performed in clinical genetics centres because aspects of this work are relevant when considering genetic screening. By broadening its terms of reference the committee is also able to deal with the detection of congenital abnormalities by means of prenatal ultrasonography.
Hereditary disorders
About 3,000 genes which, when affected by abnormalities, are known to be related to hereditary disorders have now been identified and described. In some cases these disorders are heredo-familial, i.e. they have existed in families for generations, yet they can also arise suddenly. Hereditary disorders manifesting at birth are termed congenital abnormalities (e.g. spina bifida, hare lip, clubfoot, Down’s syndrome). They can however also occur in later life; examples include not only some form of Alzheimer’s disease and Huntington’s chorea, but also some forms of cancer, cardiovascular disease and a number of psychiatric illnesses. Every year in the Netherlands about 800 children are born with congenital disorders linked to chromosomal aberrations. About 2,000
have disorders transmitted as mendelian dominant or recessive due to mutant genes, and between 5,000 and 8,000 are born with congenital abnormalities caused by the interaction of various deviant hereditary traits or environmental factors. The number of people who in later life develop diseases whose onset is determined by the interaction of genetic and environmental factors is even higher. It is now technically possible to carry out genetic screening for a number of disorders. Genetic screening may involve chromosome testing, be carried out to determine the presence of mutations directly, or it may involve biochemical examination of substances indicating the presence of a mutation or a heightened risk of congenital abnormalities or hereditary disorders. In addition, ultrasound scanning can be used at the prenatal stage to detect anatomical defects in the fetus. There are more screening possibilities for families containing patients known to suffer from a hereditary disease than for groups of people selected at random. The reason is that, with some heredopathies, even in the case that the gene related to the disease is not exactly known, kindreds can be looked at (linkage research) to establish whether they acquired the chromosomal region containing the gene which (partly) causes the disease congenitally from their parents.
Screening throughout life
It is possible for people to undergo genetic screening at different times throughout life. For example, it can be carried out prenatally or prior to conception, the main aim being the early detection of a heightened risk of giving birth to children with a disorder which is untreatable and will seriously undermine their quality of life. There is also neonatal screening, which is focused mainly on the early detection of treatable disorders, and screening performed in later life, primarily to determine the risk of acquiring a disease in cases where the risk can be reduced by preventive measures. The committee provides two tables listing pilot programmes currently underway either in the Netherlands or abroad to detect hereditary disorders or risk indicators. The programmes in question cover congenital anatomic defects, congenital hypothyroidism, Down’s syndrome, haemoglobinopathies, phenylketonuria, hypercholesterolaemia, neural tube defects, Duchenne muscular dystrophy, fragile X syndrome, prostatic cancer and cystic fibrosis.
Effects of genetic screening
People in the target groups who are offered genetic screening are thus always faced with having to make a choice. Deciding not to take part may also have consequences. The state of the art in medicine is therefore not the only consideration; in the case of genetic screening, psychological, ethical and legal perspectives are equally important. The social consequences also merit attention.
Psychology
Little research has so far been done into the psychological aspects of genetic screening. However, research data on the psychological experiences of people who have acquired heredity data after specifically asking for it is available. The committee considers such information relevant to any discussion of the psychological aspects of genetic screening, despite the fact that the situation in which it is obtained differs from the normal screening procedure in two important respects. First, genetic screening usually is not performed in response to a specific request. Second, people invited to undergo screening usually have no prior personal knowledge or experience of the disorder which may be detected.
When it comes to the psychological consequences of genetic screening, four main issues can be identified. The first concerns the psychological factors which partly influence a person’s decision to accept an offer to be screened. The decision to participate or not should be based on information which is correct and understandable, without even indirect pressure to participate. A high rate of participation should not be a goal as such. The way in which screening is offered can also influence the way in which society views people with identifiable handicaps; balanced information will ensure that they are not seen as the result of missed opportunities for prevention.
The second issue centres on the psychological consequences which the results of screening have for the subjects and their families. Screening can give confidence and reassurance. However, sufficient attention must be paid to the anxiety which may be engendered by the invitation to undergo screening and by the outcome of the examination; heightened apprehension about health and the presence of an abnormality may persist, even after the absence of the mutation that is sought has finally been confirmed. The way in which the results of screening affect the subject’s perception of self is also important. Adequate counselling and the provision of information in advance that is both balanced and accurate can play a crucial role.
Thirdly, there is the impact which the results of screening may have on the lives of the subjects and their families. Unless effective treatment is available for improving the quality of life of a person with a disorder, it is mainly a question of using the information to make decisions about forming relationships, having children, lifestyle and how to live the rest of one’s life. Counselling and guidance must be based inter alia on an understanding of the psychological factors involved.
The fourth issue concerns the possible psychological consequences for people who have decided not to take part in a screening programme and who are then confronted with the birth of a child suffering from a disorder which screening would have detected. If they did not take this possibility sufficiently into account when they decided not to participate in screening, they may experience feelings of guilt and remorse. Proper information is the only way to prevent this happening.
Ethics
The committee assessed the moral dimension in accordance with the ethical norms governing medical practice. Doctors have a duty to do good, and a moral obligation to do no harm; they must show respect for the autonomy of the individual and the principles of solidarity and equality of access to care. A genetic screening programme enables people to discover whether a hereditary disease poses a risk to themselves or their offspring. If treatment is available for the condition in question at the time the facts become known, screening can have significant benefits for the individuals concerned. On the other hand, an invitation to undergo screening confronts people with risks of which they were largely unaware and can also make them worried. Moreover, the options available in such a situation are not entirely free of drawbacks. Before a decision is taken to implement a genetic screening programme consideration must be given to whether the principle of “do no harm” justifies confronting people with choices which are often very difficult to make.
Voluntary participation based on information that has been properly understood is absolutely essential in the case of genetic screening. The government must ensure that the population at large has sufficient knowledge on heredity. It must for instance be clear to everyone that all people have some mutations in their genes. Proper education can be given already in primary schools, by the media, in written leaflets and so on. In 1989 the Health Council presented it like this.
An invitation to be screened puts a certain pressure on the autonomy of the individual. This in turn creates an added obligation to pay a great deal of attention to the context in which the offer of screening is made and the question of how the options open to the subject are put to him or her during the screening process. Social environment may also be a factor which influences the individual’s freedom to choose. The committee concludes that the screening of children to detect disorders which are untreatable and which only become manifest in later life should be rejected out of respect for the autonomy of the individual.
If genetic screening meets a number of preconditions and has a positive balance of advantages and disadvantages, the principle of equality of access to health care justifies inviting people to undergo screening rather than waiting for them to request it. After all, this is one way of ensuring that the test is not only available to those who are already aware that it exists. An unfavourable test result can lead to social stigma. Society must ensure that the results of screening do not pose unwarranted obstacles when it comes to access to prevailing insurance policies or employment contracts or other agreements. Too great a degree of uncertainty on this point may constitute grounds for not carrying out the screening programme.
The committee points to several conditions which in a social context must be fulfilled if genetic screening is to be provided in a proper manner. In order to make it possible for individuals to choose, society must show solidarity with those who are faced with having to make the choices. Respect for the autonomy of the individual calls for solidarity, and the obverse is also true. The choices that have to be made in these issues must be respected by society. The solidarity that exists within society with regard to children and adults who suffer from a hereditary disorder must be preserved. After all, the welfare of such people is heavily dependent on the opportunities which society offers them, and society can also influence the choices which parents make in respect of their children. The scope for counselling, integrating and making provisions for handicapped people is therefore important, and the government has a responsibility to monitor the activities which enable these aims to be achieved. Only when these have been guaranteed can parents who are expecting a seriously handicapped child really choose between having the child and terminating the pregnancy.
Ethical considerations concerning the scope for genetic screening lead to the conclusion that considerable caution is required when deciding whether to provide this kind of testing. The advantages that come with such programmes in the form of improved scope for treatment are nearly always accompanied by disadvantages. Prior to any offer of screening being made, it would appear highly desirable to examine, by means of properly designed pilot studies and independent assessment, whether the advantages clearly outweigh the disadvantages.
Law
Taking account of legal principles and fundamental rights, the general legal framework governing medical practice and the more specific regulations, particular attention is warranted from the legal viewpoint for three aspects of genetic screening: the assessment of screening programmes, the legal position of those invited to take part and the combination of screening and scientific research.
The Population Screening Act requires that central government approve certain screening programmes before they are implemented. The question of whether genetic screening is subject to a statutory licensing requirement is determined primarily by the scope of the Act. The latter defines population screening in broad terms, as follows: “a medical examination which is carried out in response to an offer made to the entire population or to a section thereof and which is designed to detect diseases of a certain kind or certain risk indicators either wholly or partly for the benefit of the persons to be examined”. The key word here is “offer”. The committee considers the definition of population screening contained in the Act to be rather loose because the key term “offer” is too inexact. It nevertheless concludes that genetic screening, as defined in the report, falls within the scope of the Population Screening Act. The committee endorses the line taken by government in not wishing to include in the Act the family testing, which is currently undertaken in centres for clinical genetics. There is, however, a grey area in which the question of whether, for the purposes of the Act, population screening also covers this kind of testing needs to be looked at on a case-by-case basis.
A licence is refused if the screening in question is scientifically unsound, if it conflicts with the statutory regulations governing medical practice or if it involves risks for the subjects which outweigh the likely benefits. The rules pertaining to population screening performed to detect serious diseases or abnormalities which can neither be treated nor prevented are even tighter; a licence is granted only if special circumstances constitute grounds for doing so. The committee endorses the view of government that screening for untreatable disorders calls for considerable caution, particularly in cases where the disorder in question only manifests itself in later life. However, a problem does arise if the screening is aimed to decisions concerning offspring, as is the case with prenatal screening and tests carried out prior to conception to determine whether a disorder can be transmitted as mendelian recessive. Given that the aim of the Population Screening Act is to protect people who are involved in screening programmes, there is in the opinion of the committee no justification for banning testing of this kind from the outset. It therefore advocates that the law be applied in such a way as to leave scope in theory for these forms of screening to be performed, albeit after a thorough judicial review pursuant to section 7 subsection 1.
Genetic screening programmes that are subject to licensing requirements will be examined by the body which grants the licence, advised by the Health Council. The committee believes that some form of independent assessment is also desirable in the case of programmes that do not need to be licensed, with the exception of small scale family testing. The criteria it formulates in the report can be applied in both cases. The question is to what extent the examination of genetic screening programmes for which no licence is required needs to be formalised. Here the professional organisation may have a task. The committee regards a statutory obligation as unnecessary, although expertise and independence do need to be guaranteed. It recommends that examination be carried out by a national committee.
In its report “Heredity: science and society” (GR89), the Health Council focuses in detail on the position of those who undergo tests to detect heredopathy, also if such tests are carried out in the context of genetic screening. The committee endorses the report’s conclusions and recommendations.
If a screening programme takes the form of a research program, it should also be regarded as a medical experiment, which has legal consequences. Two different situations can be identified. The first concerns screening which is not subject to a licence requirement under the Population Screening Act. Programmes of this kind will be covered by the Medical Experiments Bill when it comes into force. Programmes which are subject to licensing requirements and which are also medical experiments will only be examined pursuant to the Population Screening Act.
Social considerations
Apart from the psychological, ethical and legal aspects, social considerations also play a role in genetic screening programmes. The committee deals with the possible consequences from the population genetics viewpoint, with financial aspects and with the consequences of screening for access to employment and insurance.
Population genetics is a branch of science which focuses on the epidemiological spread of mutations in genetic material and on their possible causes and effects. A genetic screening programme may influence the occurrence of a particular mutation in offspring. It is therefore worthwhile obtaining a picture in advance of the consequences which implementation of the programme may have for future generations. This point is relevant only in the case of prenatal or preconception screening.
The committee considers the influence of genetic screening in the aforementioned respect to be no more than marginal. Only if the fact of carrying an autosomal recessive trait in itself resulted in selection could screening have consequences from the population genetics viewpoint. It is precisely on such grounds that selection on the basis of being a carrier or non-carrier must be guarded against, since the effects on human health are unknown.
The committee concludes that social attitudes and the behaviour which they engender have more significant consequences from the population genetics viewpoint than genetic screening. This is not to say that the consequences of genetic screening for the disease frequency in the population are marginal too.
As stated previously, the committee believes that the acceptability or otherwise of genetic screening programmes must be judged by a national committee. The committee should round off its assessment by examining whether the principle of equitable distribution justifies making health care resources available for implementing the programme. Such an assessment requires an insight into the costs involved and the savings which may result. However, too much itemisation of costs and savings could easily lead to social pressure to participate in screening programmes and go for the most economically advantageous option. Such pressure must be countered vigorously. The committee cannot overemphasise the fact that genetic screening must enable people to escape their fate by giving them the freedom to make an informed choice and adopt a course of action which they regard as acceptable.
As mentioned above, the Health Council reported in 1989 on the possible consequences for access to employment and insurance of genetic testing. The report played a part in the formulation of the government position paper on predictive medical examination, in which the government indicates that in the case of medical examinations prior to appointment, legislation in combination with self-regulation is an option. When it comes to medical examinations for life assurance and disability insurance, the government regards the insurers’ current moratorium as effective.
The committee considers the above position paper too weak. In a previous position paper the government had pledged to examine after two years whether self-regulation would make legislation superfluous. A report by the TNO Institute of Preventive Health Care makes it clear that at present this is by no means the case.
The committee is also extremely worried by the fact that, as far as the insurance situation is concerned, the government has resigned itself to things remaining the way they are. This means the possibility of new forms of uninsurability arising. The committee believes that legislation is urgently required. This is especially true in view of the increasing role genetic screening may come to play in the future, possibly resulting in more, in most cases rare, diseases becoming uninsurable. It therefore believes it important to expedite the draft legislation initiative regarding medical examinations, which incorporates most of the recommendations made previously by the Health Council.
Assessment of screening programs
All in all, the committee takes the view that the pros and cons of carrying out genetic screening - of whatever kind - require careful consideration. This is in the first place the responsibility of the body which provides the screening, and should take place prior to a programme being introduced. In cases where such a programme is classed as population screening requiring statutory licence pursuant to the Population Screening Act, the Act itself provides for examination by an independent body (i.e. the Health Council) before it can be carried out. The committee also considers assessment necessary when screening is not subject to a statutory licence requirement. It makes an exception for family testing as currently performed in clinical genetics centres. The type of assessment advocated by the committee can be carried out by a national committee on medical ethics.
To ensure that assessment is performed systematically and carefully, the committee provides criteria based on the considerations contained in the report. For the provider who is considering introducing such a programme, these criteria can also play a useful role at an earlier stage. The committee expects that their application will encourage the increasing knowledge of matters connected with genetic screening to be properly used.
The committee which has compiled this report on genetic screening welcomes this increase in knowledge. However, it does not close its eyes to the fact that, for human beings, the application of knowledge may have disadvantages as well as advantages. This applies to knowledge in general and to knowledge of genetics in particular. The early detection of hereditary diseases can reduce and prevent suffering. It can offer people choices in situations where previously their fate was preordained, yet it can also cause suffering. Moreover, the inaccurate interpretation of genetic information has caused a great deal of damage in the past. This is one of the reasons why the committee deals extensively with the possible advantages and disadvantages of genetic screening and with the conditions which must have been fulfilled before screening is carried out. One of these conditions is that those who participate in genetic screening must act voluntary, after proper information of what is involved. In order to guarantee that screening remains voluntary, the committee considers it vital that an adequate level of care for the handicapped be maintained.
Scope of the report
The committee has opted to define its remit broadly. It takes genetic screening to mean any kind of test performed for the systematic early detection or exclusion of a hereditary disease or a predisposition to such a disease, or in order to determine whether a person carries a predisposition which may produce a hereditary disease in offspring. All members of a predetermined target group are invited to undergo screening or urgently informed about it. In the case of screening it is the care system which takes the initiative; those invited have not (yet) been led to seek medical help
because of physical signs, symptoms or anxiety. The committee has also taken account of the family testing customarily performed in clinical genetics centres because aspects of this work are relevant when considering genetic screening. By broadening its terms of reference the committee is also able to deal with the detection of congenital abnormalities by means of prenatal ultrasonography.
Hereditary disorders
About 3,000 genes which, when affected by abnormalities, are known to be related to hereditary disorders have now been identified and described. In some cases these disorders are heredo-familial, i.e. they have existed in families for generations, yet they can also arise suddenly. Hereditary disorders manifesting at birth are termed congenital abnormalities (e.g. spina bifida, hare lip, clubfoot, Down’s syndrome). They can however also occur in later life; examples include not only some form of Alzheimer’s disease and Huntington’s chorea, but also some forms of cancer, cardiovascular disease and a number of psychiatric illnesses. Every year in the Netherlands about 800 children are born with congenital disorders linked to chromosomal aberrations. About 2,000
have disorders transmitted as mendelian dominant or recessive due to mutant genes, and between 5,000 and 8,000 are born with congenital abnormalities caused by the interaction of various deviant hereditary traits or environmental factors. The number of people who in later life develop diseases whose onset is determined by the interaction of genetic and environmental factors is even higher. It is now technically possible to carry out genetic screening for a number of disorders. Genetic screening may involve chromosome testing, be carried out to determine the presence of mutations directly, or it may involve biochemical examination of substances indicating the presence of a mutation or a heightened risk of congenital abnormalities or hereditary disorders. In addition, ultrasound scanning can be used at the prenatal stage to detect anatomical defects in the fetus. There are more screening possibilities for families containing patients known to suffer from a hereditary disease than for groups of people selected at random. The reason is that, with some heredopathies, even in the case that the gene related to the disease is not exactly known, kindreds can be looked at (linkage research) to establish whether they acquired the chromosomal region containing the gene which (partly) causes the disease congenitally from their parents.
Screening throughout life
It is possible for people to undergo genetic screening at different times throughout life. For example, it can be carried out prenatally or prior to conception, the main aim being the early detection of a heightened risk of giving birth to children with a disorder which is untreatable and will seriously undermine their quality of life. There is also neonatal screening, which is focused mainly on the early detection of treatable disorders, and screening performed in later life, primarily to determine the risk of acquiring a disease in cases where the risk can be reduced by preventive measures. The committee provides two tables listing pilot programmes currently underway either in the Netherlands or abroad to detect hereditary disorders or risk indicators. The programmes in question cover congenital anatomic defects, congenital hypothyroidism, Down’s syndrome, haemoglobinopathies, phenylketonuria, hypercholesterolaemia, neural tube defects, Duchenne muscular dystrophy, fragile X syndrome, prostatic cancer and cystic fibrosis.
Effects of genetic screening
People in the target groups who are offered genetic screening are thus always faced with having to make a choice. Deciding not to take part may also have consequences. The state of the art in medicine is therefore not the only consideration; in the case of genetic screening, psychological, ethical and legal perspectives are equally important. The social consequences also merit attention.
Psychology
Little research has so far been done into the psychological aspects of genetic screening. However, research data on the psychological experiences of people who have acquired heredity data after specifically asking for it is available. The committee considers such information relevant to any discussion of the psychological aspects of genetic screening, despite the fact that the situation in which it is obtained differs from the normal screening procedure in two important respects. First, genetic screening usually is not performed in response to a specific request. Second, people invited to undergo screening usually have no prior personal knowledge or experience of the disorder which may be detected.
When it comes to the psychological consequences of genetic screening, four main issues can be identified. The first concerns the psychological factors which partly influence a person’s decision to accept an offer to be screened. The decision to participate or not should be based on information which is correct and understandable, without even indirect pressure to participate. A high rate of participation should not be a goal as such. The way in which screening is offered can also influence the way in which society views people with identifiable handicaps; balanced information will ensure that they are not seen as the result of missed opportunities for prevention.
The second issue centres on the psychological consequences which the results of screening have for the subjects and their families. Screening can give confidence and reassurance. However, sufficient attention must be paid to the anxiety which may be engendered by the invitation to undergo screening and by the outcome of the examination; heightened apprehension about health and the presence of an abnormality may persist, even after the absence of the mutation that is sought has finally been confirmed. The way in which the results of screening affect the subject’s perception of self is also important. Adequate counselling and the provision of information in advance that is both balanced and accurate can play a crucial role.
Thirdly, there is the impact which the results of screening may have on the lives of the subjects and their families. Unless effective treatment is available for improving the quality of life of a person with a disorder, it is mainly a question of using the information to make decisions about forming relationships, having children, lifestyle and how to live the rest of one’s life. Counselling and guidance must be based inter alia on an understanding of the psychological factors involved.
The fourth issue concerns the possible psychological consequences for people who have decided not to take part in a screening programme and who are then confronted with the birth of a child suffering from a disorder which screening would have detected. If they did not take this possibility sufficiently into account when they decided not to participate in screening, they may experience feelings of guilt and remorse. Proper information is the only way to prevent this happening.
Ethics
The committee assessed the moral dimension in accordance with the ethical norms governing medical practice. Doctors have a duty to do good, and a moral obligation to do no harm; they must show respect for the autonomy of the individual and the principles of solidarity and equality of access to care. A genetic screening programme enables people to discover whether a hereditary disease poses a risk to themselves or their offspring. If treatment is available for the condition in question at the time the facts become known, screening can have significant benefits for the individuals concerned. On the other hand, an invitation to undergo screening confronts people with risks of which they were largely unaware and can also make them worried. Moreover, the options available in such a situation are not entirely free of drawbacks. Before a decision is taken to implement a genetic screening programme consideration must be given to whether the principle of “do no harm” justifies confronting people with choices which are often very difficult to make.
Voluntary participation based on information that has been properly understood is absolutely essential in the case of genetic screening. The government must ensure that the population at large has sufficient knowledge on heredity. It must for instance be clear to everyone that all people have some mutations in their genes. Proper education can be given already in primary schools, by the media, in written leaflets and so on. In 1989 the Health Council presented it like this.
An invitation to be screened puts a certain pressure on the autonomy of the individual. This in turn creates an added obligation to pay a great deal of attention to the context in which the offer of screening is made and the question of how the options open to the subject are put to him or her during the screening process. Social environment may also be a factor which influences the individual’s freedom to choose. The committee concludes that the screening of children to detect disorders which are untreatable and which only become manifest in later life should be rejected out of respect for the autonomy of the individual.
If genetic screening meets a number of preconditions and has a positive balance of advantages and disadvantages, the principle of equality of access to health care justifies inviting people to undergo screening rather than waiting for them to request it. After all, this is one way of ensuring that the test is not only available to those who are already aware that it exists. An unfavourable test result can lead to social stigma. Society must ensure that the results of screening do not pose unwarranted obstacles when it comes to access to prevailing insurance policies or employment contracts or other agreements. Too great a degree of uncertainty on this point may constitute grounds for not carrying out the screening programme.
The committee points to several conditions which in a social context must be fulfilled if genetic screening is to be provided in a proper manner. In order to make it possible for individuals to choose, society must show solidarity with those who are faced with having to make the choices. Respect for the autonomy of the individual calls for solidarity, and the obverse is also true. The choices that have to be made in these issues must be respected by society. The solidarity that exists within society with regard to children and adults who suffer from a hereditary disorder must be preserved. After all, the welfare of such people is heavily dependent on the opportunities which society offers them, and society can also influence the choices which parents make in respect of their children. The scope for counselling, integrating and making provisions for handicapped people is therefore important, and the government has a responsibility to monitor the activities which enable these aims to be achieved. Only when these have been guaranteed can parents who are expecting a seriously handicapped child really choose between having the child and terminating the pregnancy.
Ethical considerations concerning the scope for genetic screening lead to the conclusion that considerable caution is required when deciding whether to provide this kind of testing. The advantages that come with such programmes in the form of improved scope for treatment are nearly always accompanied by disadvantages. Prior to any offer of screening being made, it would appear highly desirable to examine, by means of properly designed pilot studies and independent assessment, whether the advantages clearly outweigh the disadvantages.
Law
Taking account of legal principles and fundamental rights, the general legal framework governing medical practice and the more specific regulations, particular attention is warranted from the legal viewpoint for three aspects of genetic screening: the assessment of screening programmes, the legal position of those invited to take part and the combination of screening and scientific research.
The Population Screening Act requires that central government approve certain screening programmes before they are implemented. The question of whether genetic screening is subject to a statutory licensing requirement is determined primarily by the scope of the Act. The latter defines population screening in broad terms, as follows: “a medical examination which is carried out in response to an offer made to the entire population or to a section thereof and which is designed to detect diseases of a certain kind or certain risk indicators either wholly or partly for the benefit of the persons to be examined”. The key word here is “offer”. The committee considers the definition of population screening contained in the Act to be rather loose because the key term “offer” is too inexact. It nevertheless concludes that genetic screening, as defined in the report, falls within the scope of the Population Screening Act. The committee endorses the line taken by government in not wishing to include in the Act the family testing, which is currently undertaken in centres for clinical genetics. There is, however, a grey area in which the question of whether, for the purposes of the Act, population screening also covers this kind of testing needs to be looked at on a case-by-case basis.
A licence is refused if the screening in question is scientifically unsound, if it conflicts with the statutory regulations governing medical practice or if it involves risks for the subjects which outweigh the likely benefits. The rules pertaining to population screening performed to detect serious diseases or abnormalities which can neither be treated nor prevented are even tighter; a licence is granted only if special circumstances constitute grounds for doing so. The committee endorses the view of government that screening for untreatable disorders calls for considerable caution, particularly in cases where the disorder in question only manifests itself in later life. However, a problem does arise if the screening is aimed to decisions concerning offspring, as is the case with prenatal screening and tests carried out prior to conception to determine whether a disorder can be transmitted as mendelian recessive. Given that the aim of the Population Screening Act is to protect people who are involved in screening programmes, there is in the opinion of the committee no justification for banning testing of this kind from the outset. It therefore advocates that the law be applied in such a way as to leave scope in theory for these forms of screening to be performed, albeit after a thorough judicial review pursuant to section 7 subsection 1.
Genetic screening programmes that are subject to licensing requirements will be examined by the body which grants the licence, advised by the Health Council. The committee believes that some form of independent assessment is also desirable in the case of programmes that do not need to be licensed, with the exception of small scale family testing. The criteria it formulates in the report can be applied in both cases. The question is to what extent the examination of genetic screening programmes for which no licence is required needs to be formalised. Here the professional organisation may have a task. The committee regards a statutory obligation as unnecessary, although expertise and independence do need to be guaranteed. It recommends that examination be carried out by a national committee.
In its report “Heredity: science and society” (GR89), the Health Council focuses in detail on the position of those who undergo tests to detect heredopathy, also if such tests are carried out in the context of genetic screening. The committee endorses the report’s conclusions and recommendations.
If a screening programme takes the form of a research program, it should also be regarded as a medical experiment, which has legal consequences. Two different situations can be identified. The first concerns screening which is not subject to a licence requirement under the Population Screening Act. Programmes of this kind will be covered by the Medical Experiments Bill when it comes into force. Programmes which are subject to licensing requirements and which are also medical experiments will only be examined pursuant to the Population Screening Act.
Social considerations
Apart from the psychological, ethical and legal aspects, social considerations also play a role in genetic screening programmes. The committee deals with the possible consequences from the population genetics viewpoint, with financial aspects and with the consequences of screening for access to employment and insurance.
Population genetics is a branch of science which focuses on the epidemiological spread of mutations in genetic material and on their possible causes and effects. A genetic screening programme may influence the occurrence of a particular mutation in offspring. It is therefore worthwhile obtaining a picture in advance of the consequences which implementation of the programme may have for future generations. This point is relevant only in the case of prenatal or preconception screening.
The committee considers the influence of genetic screening in the aforementioned respect to be no more than marginal. Only if the fact of carrying an autosomal recessive trait in itself resulted in selection could screening have consequences from the population genetics viewpoint. It is precisely on such grounds that selection on the basis of being a carrier or non-carrier must be guarded against, since the effects on human health are unknown.
The committee concludes that social attitudes and the behaviour which they engender have more significant consequences from the population genetics viewpoint than genetic screening. This is not to say that the consequences of genetic screening for the disease frequency in the population are marginal too.
As stated previously, the committee believes that the acceptability or otherwise of genetic screening programmes must be judged by a national committee. The committee should round off its assessment by examining whether the principle of equitable distribution justifies making health care resources available for implementing the programme. Such an assessment requires an insight into the costs involved and the savings which may result. However, too much itemisation of costs and savings could easily lead to social pressure to participate in screening programmes and go for the most economically advantageous option. Such pressure must be countered vigorously. The committee cannot overemphasise the fact that genetic screening must enable people to escape their fate by giving them the freedom to make an informed choice and adopt a course of action which they regard as acceptable.
As mentioned above, the Health Council reported in 1989 on the possible consequences for access to employment and insurance of genetic testing. The report played a part in the formulation of the government position paper on predictive medical examination, in which the government indicates that in the case of medical examinations prior to appointment, legislation in combination with self-regulation is an option. When it comes to medical examinations for life assurance and disability insurance, the government regards the insurers’ current moratorium as effective.
The committee considers the above position paper too weak. In a previous position paper the government had pledged to examine after two years whether self-regulation would make legislation superfluous. A report by the TNO Institute of Preventive Health Care makes it clear that at present this is by no means the case.
The committee is also extremely worried by the fact that, as far as the insurance situation is concerned, the government has resigned itself to things remaining the way they are. This means the possibility of new forms of uninsurability arising. The committee believes that legislation is urgently required. This is especially true in view of the increasing role genetic screening may come to play in the future, possibly resulting in more, in most cases rare, diseases becoming uninsurable. It therefore believes it important to expedite the draft legislation initiative regarding medical examinations, which incorporates most of the recommendations made previously by the Health Council.
Assessment of screening programs
All in all, the committee takes the view that the pros and cons of carrying out genetic screening - of whatever kind - require careful consideration. This is in the first place the responsibility of the body which provides the screening, and should take place prior to a programme being introduced. In cases where such a programme is classed as population screening requiring statutory licence pursuant to the Population Screening Act, the Act itself provides for examination by an independent body (i.e. the Health Council) before it can be carried out. The committee also considers assessment necessary when screening is not subject to a statutory licence requirement. It makes an exception for family testing as currently performed in clinical genetics centres. The type of assessment advocated by the committee can be carried out by a national committee on medical ethics.
To ensure that assessment is performed systematically and carefully, the committee provides criteria based on the considerations contained in the report. For the provider who is considering introducing such a programme, these criteria can also play a useful role at an earlier stage. The committee expects that their application will encourage the increasing knowledge of matters connected with genetic screening to be properly used.
Download publications
Health Council of the Netherlands: Committee Genetic Screening. Genetic Screening. The Hague: Health Council, 1994; publication no. 1994/22E. ISBN 90-5549-073-3
