Ethical and social aspects of evaluating fetal screening

12 Ethical and social aspects of evaluating fetal screening Elina Hemminki National Research and Development Centre for Health and Welfare (STAKES), Helsinki, Finland Introduction A current doctrine in medicine is that health care should be evidence-based, and an important tool of evidence-based medicine is health technology assessment (HTA) A typical textbook deWnition of HTA is that it includes studying the health, economic, social and ethical consequences of a health technology in a way that helps in deciding on its use Health aspects include intended consequences, eYcacy and eVectiveness, as well as unintended consequences, adverse eVects and side eVects Some commentators would also include in HTA the study of factors that inXuence the use of a health technology SpeciWc to HTA is its aim of integrating knowledge of diVerent aspects of a technology, in order to provide a full evaluation to help decision-makers In practice, however, ethical and social aspects, if studied at all, have not been integrated into the HTA process One reason for this is the diYculty of combining ethical and social aspects with other outcomes To aggregate various factors in health, several methods have been created, including quality-adjusted life-years To combine health and cost data, cost-eVectiveness, cost beneWt and other such methods have been developed But there is no quantitative method by which to measure ethical and social consequences Thus, they are treated as separate issues, and often added as a footnote or afterthought when an evaluation of a health technology has already been made The purpose of this chapter is to illustrate the importance of the integration of ethical and social consequences in HTA, using fetal screening as an example Fetal screening is loaded with ethical and social consequences and determinants, such as views on reproduction, fetal rights, the value of disabled people, eugenic ideology, resource allocation and the structures of prenatal care Thus, the importance of ethics and social factors may actually be easier to illustrate for fetal screening than for some other perinatal technologies – or for medical technologies in general When I use the words ‘ethical’ or ‘ethics’, I mean ‘moral’ – are we doing 183 184 E Hemminki what is right or wrong; what is good, what is bad? By ‘social’ I mean consequences and aspects concerning people other than the person who is the target of a technology, as well as social structures, including health care By ‘fetal screening’ I mean assessment of the quality of the fetus, i.e an assessment to detect fetal disease, disability or a characteristic of or predisposition towards one of these, with an induced abortion as a possible consequence This includes the testing of parents for carrier status of a genetic disease with the aim of judging the fetus’s status By ‘screening’, as opposed to ‘testing’, I mean doing a test on a general pregnant population or a segment of it deWned by an unspeciWc risk factor, such as mother’s age I will not discuss genetic or other types of testing done because of family history or other strong risk factors, or because of a screening Wnding that requires conWrmation By the term ‘perinatal technologies’ I mean technologies used to create human life, regulate it and improve the health of the fetus, the newborn and his or her mother Most medical and health technologies target diseases or health In the perinatal Weld many technologies deal with the regulation of life itself Previously, medicine could only end a life already started Now the times of solely natural creation of new human life are past, and new life can be created (or assisted), and the quality of a new human being inXuenced Consequences of fetal screening The aim of fetal screening is to ascertain whether a fetus possesses a disease or unwanted characteristic But in the process many other things happen; Figure 12.1 lists some of them The knowledge of the existence of such screening may inXuence women’s and men’s images of their worthiness to have children because of their genetic makeup or other characteristics It may also reinforce the current view of reproduction – children are not born, they are made Fetal screening will also aVect the view of pregnancy as being unreal until the quality of the fetus is guaranteed (‘tentative pregnancy’ as formulated by Rothman, 1987) and attachment to the fetus may be weakened Whether it has any impact on the subsequent mother–infant relationship is unknown Fetal screening will inXuence a fetus’s status – a sick fetus is not a real fetus, but something less valuable Although it may not aVect existing children with disabilities, this value judgement may in the long run create a more negative view about people with disabilities People with disabilities, at least, sometimes interpret fetal screening as a value judgement of them Currently it is emphasized that fetal screening is a way to give the mother/parents an opportunity to avoid having a handicapped or ill child But this slant might easily be changed to emphasize the health of the newborn population, public health or the health level of a given society And then we would have to face the dilemma of eugenics Ethical and social aspects of evaluating fetal screening Existence worry about one’s worthiness nature of reproduction fetus position attachment to the fetus views of disabled people veiws on reproduction eugenics Doing the test worry attachment to the fetus physical harm worry diagnostics relationship with child subsequent children adverse effects False negatives disappointment relationship with child True positives abortion no abortion disability attitudes guilt responsibility Resources other services place of care health costs personnel structure False positives Figure 12.1 Consequences of fetal screening The worry and physical harm resulting from doing the screening test (Figure 12.1) varies according to the type of test With the widely used serum test for Down’s syndrome, the worry while waiting for the test result may be considerable (Santalahti, 1998) In amniocentesis (in screening by age indication) miscarriage, infection and other complications may occur In ultrasound the initial, often uncertain diagnosis may cause worry All these tests reinforce the concept of tentative pregnancy A false positive test result (Figure 12.1) means that the screening test indicates a problem or a risk for it, even though in reality the problem does not exist Because serum tests are very unspeciWc (over 90 per cent of 185 186 E Hemminki positives are false positives) and because the diagnosis, usually by amniocentesis, takes weeks, there is a great deal of well-documented stress for the pregnant woman and her partner (Santalahti et al., 1996) This worry may make the couple’s lives miserable and may negatively aVect the pregnancy experience, with ongoing ramiWcations for family relationships and subsequent pregnancies False negatives (when the fetus has the condition but it is not detected by the screening test) may lead to disappointment – the mother/parents falsely assume the child to be normal, and they may be totally unprepared at the birth How this phenomenon aVects their relationship with the handicapped child is unknown They may feel guilty, or deceived by the medical profession, because they tried to avoid the birth of an aVected child but failed In the case of true positives (when the condition is deWnitely conWrmed from the screening test or in a diagnostic test) the option of termination, often at late gestation, has to be faced Finding a defective fetus and aborting it avoids the birth of a disabled infant, which is the purpose and the positive side of screening But late abortion may be psychologically diYcult Late abortions on grounds of fetal abnormality may also inXuence society’s view of disability, fetuses and pregnancies If the mother decides to continue the pregnancy regardless of fetal abnormalities, the parents take the responsibility They may, both in their own eyes and that of others and society, feel that they have to bear the consequences, however diYcult their lives are This outcome was their choice; it did not merely happen to them There also may be mid-level consequences for health care providers Fetal screening may have consequences for resource utilization in antenatal care Because screening tests may require special skills and technology, they may have a notable impact on the place of antenatal care and type of personnel needed (Hemminki et al., 1999) Special features of fetal screening Screening is a central feature of antenatal care Measuring of maternal blood pressure and weight, and doing various laboratory tests with the aim of identifying deviations or pathological Wndings are core elements But here the purpose has been to improve the mother’s or fetus’s health, not to abort the fetus It is true that abortion is not the sole purpose of fetal screening, as knowledge of a handicapped fetus may be important in planning for delivery and newborn care In the future, fetal genetic therapy may also be an option But for problems like Down’s syndrome, neither of these factors is of any current importance Screening is organized to oVer the mother/parents the possibility of avoiding the birth of a Down’s syndrome child by having an abortion Other special features diVerentiating fetal screening from other antenatal Ethical and social aspects of evaluating fetal screening screening include its target, the involvement of other people and its relation to eugenic ideology Usually the target of screening is an identiWable nonclinical or pre-symptomatic disease (i.e not diagnosed by the patient or a physician) or a risk factor for a disease In much fetal screening, achieving consensus on the concept of disease is diYcult Many say that Down’s syndrome is not a disease, rather a condition or characteristic (Alderson et al., 1999) Similarly, being very short or having a genetically increased risk of ageing prematurely cannot really be deWned as diseases The borderline between screening for wanted or unwanted characteristics, e.g fetal sex or undesirable genetic variations, can be a thin one Which characteristics, therefore, medicine and health care systems are to deWne as diseases and which are not is problematic Fetal screening has an impact not only on the mother and her fetus, but also on the father and siblings of the child, especially in cases of genetic screening If the fetus is found to have a genetic defect, this information is signiWcant for people sharing the same parentage Screening may reveal genetic information to those who did not ask for it and possibly did not want to know Knowledge that a certain defect had led a woman to abort the fetus is especially hard for those who have the same defect They may think that they also should have been aborted On a societal level this question may bother handicapped people in general – if the birth of people like themselves is not wanted, they may think that they are not wanted either The fourth special feature of fetal screening, diVerentiating it from other antenatal screening procedures, is its possible relation to eugenic ideology Eugenics was prominent in the western world early in the twentieth century, but is a source of shame today because of its connection to fascist politics and nationalistic and racist movements (Hemminki et al., 1997a) Before the technology for fetal screening was available, the reproduction of people assumed to have unwanted hereditary characteristics was regulated either through isolation in institutions, marriage prohibitions, sterilizations and other pregnancy prevention methods, or through unselective abortions if an aVected woman got pregnant In a 1997 survey, Finnish physicians were asked whether they believed that current fetal screening is based on eugenic thinking A Wfth of the physicians agreed that it was so, in whole or in part; about half said it was not; and most of the other respondents either could not say or chose the option, ‘I not know what eugenics is and cannot make a comparison’ (Hemminki et al., 2000) Those physicians who agreed that fetal screening was not linked to eugenics based their opinion on the intention and voluntariness of screening, focusing on improvement of a race versus decreasing suVering among individuals Fetal screening is based on certain values and beliefs, such as the importance of health, the feeling that a handicapped child is worse than none at all (particularly if there is an option of having a chance to try again) and the perception that handicaps cause suVering to the child itself, the parents 187 188 E Hemminki and/or to society Through the organization of screening programmes and concomitant research, medicine and health care have been given the authority to deWne which diseases and characteristics qualify for these beliefs Furthermore, fetal screening assumes that fetuses are not human beings and that mothers have a full right to decide the fate of their fetuses When a fetus has its own status – whether only when it is born or at some earlier stage – is not clearly deWned In Finland, the oYcal time limit between a miscarriage and birth is 22 gestation weeks, meaning that products of pregnancies spontaneously ending after 22 weeks will be recorded as children However, induced abortion is allowed until the 24th week, and in these cases the pregnancy products are treated like fetuses Comparison to other perinatal interventions Fetal screening is not the only controversial activity that occurs during the perinatal period In the following I compare, as examples, the ethical debates on fetal screening to those on abortion, in vitro fertilization and the intensive care of preterm infants (Hemminki et al., 1997b), Table 12.1 In fetal screening (and consequent selective abortions) ethical discussion has focused on the rights of parents to have healthy children, on the rights of disabled persons, on unintended eVects of screening procedures and on the general threat of eugenics as an ideology In discussions concerning termination of pregnancy in general, the usual ethical question is – when does life begin (e.g Chervenak et al., 1995)? When cells and tissues become a human being or a person? If embryos or very young fetuses are deWned as human beings, all abortions are morally wrong Only a threat to the mother’s life is an argument strong enough to overcome the ethical problems of destroying an (unborn) human being (A strict anti-abortion position would not even view the mother’s life as a ‘trump’, since the fetus’s life is of equal value.) However, because an embryo or a very young fetus is not capable of living outside the mother, it has been argued that it is not a human being in a morally relevant sense, but is part of the mother’s body This reasoning does not, however, answer the question of when does a fetus becomes a human being – at viability or at birth? The problem is intensiWed by new technology which allows very premature children to survive With the newest intensive care technology, younger and younger infants spontaneously born too early can be kept alive Concern has been raised over the fact that many of the infants kept alive exhibit disabilities, some of which are serious Although the balance between additional surviving healthy infants and additional disabled infants saved is highly positive, with far more healthy than disabled survivors, the absolute numbers of children with disabilities may have increased as a result of neonatal intensive care (Hagberg et al., 1993) Ethical and social aspects of evaluating fetal screening Table 12.1 Ethics discussions on some perinatal activities Fetal screening1 Start of life Saving fetuses/infants Right to have children Preventing disability Preventing death Rights of disabled Eugenics − P P! − + + Abortions Neonatal intensive care In vitro fertilization + + P P! − P! − − − − + − − + Key: + , commonly; − , not commonly discussed, should be; not relevant; P purpose to decrease; P! purpose to increase Including selective abortions Abortions because a child in general is not wanted Regarding in vitro fertilization (IVF), ethical discussions have concerned the right to have one’s own children, the right to parenthood (if donated cells are used), restrictions on who can be a mother (e.g marital status, age) and the ample possibilities for eugenic practices IVF pregnancies, however, also result in much higher proportions of preterm and small infants, who have a higher risk of disability Thus, for these four common perinatal activities, diVerent ethical aspects have been highlighted (Table 12.1) This is surprising, since the ethical issues actually overlap For example, although selective termination of pregnancy after screening is sometimes only possible after the twentieth week of gestation, little of the ethical literature on screening has concerned the start of life and its ending, issues so central in the abortion discussion This is especially problematic for selective abortions between 22 and 24 weeks In many countries the oYcial statistical limit for abortion and birth is 22 weeks of gestation, and newborns born spontaneously at that age often receive treatment to keep them alive, sometimes even successfully A second incongruity is this In fetal screening, fetuses with disabilities are actively targeted, but IVF results in a higher rate of preterm pregnancies and neonatal intensive care in survival of preterm infants Surviving preterm infants have more disabilities than other infants, yet the debate about disability is almost entirely absent from the literature on IVF Finally, when fetuses are screened using chorionic villus biopsy or amniocentesis, some pregnancies with healthy fetuses will be unintentionally terminated as a result of such screening itself This contradicts the ethos of eVorts toward trying to save very premature babies In multiple IVF 189 190 E Hemminki pregnancies, the practice has emerged of terminating some of the fetuses to reduce the number of infants to be born and thus the risk of prematurity (see Chapter 16) However, the terminated fetuses are not per se more sick than those left intact Integration of ethics and social consequences into health technology assessment From the health technology assessment perspective there are two issues for ethics: Wrst, how to make ethical thinking consistent over the range of diVerent interventions; and secondly how to integrate ethics into other aspects of HTA As I have argued in the preceding section, there is a great deal of inconsistency in what ethical factors are thought crucial in diVerent interventions Perhaps this is explained by the general marginality of ethics in medicine until comparatively recently, by increasing specialization in health care provision, by each intervention’s unique history and rationale, and by the diVerent main purposes of the activities (Hemminki et al., 1997b) It is unlikely that any one ethical principle can regulate the whole of medical practice But it would be useful to think of common principles that apply to diVerent interventions, to classify the interventions by the ethical principle on which they are based and to acknowledge the ethical principles with which they are in conXict The marginality of ethics in HTA is a more diYcult problem to resolve Often medical ethics Wgures only as an afterthought, brought up when the technology is already in use Ethical aspects are not easily quantiWable, compared with other aspects (eVectiveness, adverse eVects and costs) Ethics, unlike costs, has a low status in HTA, and ethicists are not typically core people in the Weld Many reasons for the marginalization of ethics in HTA can be oVered The Wrst is specialization – on the one hand, ethics has been left to ethicists, who are not typically core people in HTA, and on the other hand, ethics is not included in the education of people who promote and HTA Secondly, ethical questions are diYcult to deWne and operationalize It would require a lot of theoretical and methodological thinking and research to be able to compare, for example health and ethical consequences jointly in the way one currently compares health and economic consequences Furthermore, individualistic thinking emphasizes autonomous choices as the answer to various ethical problems, forgetting the societal perspective of consequences and control The myth of the objectivity of research is strong among health and economic researchers, and they may Wnd the explicit value requirements of ethics diYcult Ethical consequences are often likely to be negative for the dissemination of a technique It is easier to Wnd examples of techniques that Ethical and social aspects of evaluating fetal screening are eVective but ethically unacceptable, than to Wnd an example of an ineVective technique which for ethical reasons should be used Producers of technology are inXuential in HTA – they Wnance and much of the HTA, and they are not eager to promote evaluations which are likely to bring up negative sides of their products In HTA, social aspects/consequences are neglected even more than ethical aspects – rarely are they added even as an afterthought Probably many of the reasons I have listed above for the neglect of ethical aspects apply also for social aspects, but to varying degrees Specialization certainly applies, but ethical questions are diYcult to deWne and operationalize Individualistic thinking is likely to be very important Even though public health people think in terms of groups and societies, the units of measurement are usually on an individual level, which are then summed up to form a group eVect It is not common in HTA to think about what kind of spill-over eVects a health technology has outside its group of target individuals What can be done? The current state of aVairs where the value of a health technology is judged only on the basis of some of its consequences, and the use of the technology is promoted on the basis of such deWcient information (in addition to commercial and other interests), is not satisfactory The Wrst step is to acknowledge this problem If the limited and narrow nature of current research were deWned as an important problem, interest in Wnding solutions might be raised A feasible point for introducing ethics and social aspects into HTA could be to bring these points into research via resource allocation Before a new technology is developed, a societal and professional ethical and social discussion should occur – we want this kind of technology? It may be argued that this is a naive and unrealistic approach Before research is done, one cannot predict which of its fruits will and can be used Other counterarguments include the claim that such considerations result in censorship and harm all innovative basic research, and the possibility that someone somewhere will such research anyhow It is possible that ethical and social pre-evaluation in basic research is unrealistic, but such steps could be taken prior to product development Further, active research support for and dissemination of ethical and social aspects of health technology is likely to be helpful When we have the technology ready, arrangements similar to those currently in place for drugs could be introduced – drugs are not allowed to be marketed before assessment Currently the typical order in evaluating a therapy is Wrst to study its eYcacy (and short-term adverse eVects) Then, using the costs of the therapy 191 192 E Hemminki and calculated beneWts, an implicit or explicit estimate of cost-eVectiveness or cost utility is made to decide about utilization In case of technologies that are ethically or socially potentially controversial, the order of evaluation could be diVerent An initial ethical and social evaluation would be done, then an initial cost-evaluation (i.e can the system aVord it if it were eVective for planned indications?) would be followed by an evaluation of eYcacy and eVectiveness – but only in aYrmative cases The outcomes to be used in HTA should be many-sided, and qualitative techniques to combine diVerent kinds of data should be developed Currently HTA evaluations try to give an overall estimate of the health value of a technology, in isolation from the social situation and people This is relatively artiWcial even in regard to health eVects, and when social and ethical dimensions are introduced, the need to inspect a technology within a context becomes very evident and necessary Commercial and professional pressures are strong factors inXuencing the dissemination of health technology Most new technologies are produced by proWt-making companies, or their products are needed in producing the technology, and commercial pressures are clear But professionals may also have proWt motives – their own income may be inXuenced by the use of a technology, and above all, their professional image and esteem, both personally and as a disciplinary group, may depend on it Because evaluations currently are narrowly done and the crucial ethical and social elements are usually not there, the strong commercial and professional pressures are likely to lead to unnecessary, premature or too widespread use of health technology Currently the use of technology runs ahead of proper evaluation More conservative adoption of health technology, including regulation of technology introduction and marketing, would be welcomed Acknowledging ethical and social consequences may help to achieve this References Alderson, P., Goodey, C and Appleby, J (1999) The ethical implications of antenatal screening for Down’s syndrome Bulletin of Medical Ethics 147: 13–17 Chervenak, F.A., McCullough, L.B and Campbell, S (1995) Is third trimester abortion justiWed? British Journal of Obstetrics and Gynaecology 102: 434–5 Hagberg, B., Hagberg, G and Olow, I (1993) The changing panorama of cerebral palsy in Sweden VI Prevalence and origin during the birth year period 1983–1986 Acta Paediatrica 82: 387–93 Hemminki, E., Rasimus, A and Forssas, E (1997a) Sterilizations in Finland: from eugenics to contraception Social Science and Medicine 45: 1875–84 Hemminki, E., Santalahti, P and Louhiala, P (1997b) Ethical conXicts in regulating the start of life Perspectives in Biology and Medicine 40: 586–91 Hemminki, E., Santalahti, P and Toiviainen, H (1999) Impact of prenatal screening Ethical and social aspects of evaluating fetal screening on maternity services – Finnish physicians’ opinions Acta Obstetrica et Gynecologica Scandinavica 78: 93–7 Hemminki, E., Toiviainen, H and Santalahti, P (2000) Finnish physicians’ opinions on prenatal screening British Journal of Obstetrics and Gynaecology 107: 655–62 Rothman, B.K (1987) The Tentative Pregnancy: Prenatal Diagnosis and the Future of Motherhood New York: Penguin Books Santalahti, P (1998) Prenatal Screening in Finland – Availability and Women’s Decision-Making and Experiences National Research and Development Centre for Welfare and Health Research Report 94 Helsinki: STAKES Santalahti, P., Latikka, A.-M., Ryynanen, M and Hemminki, E (1996) Womens ă experiences of prenatal serum screening Birth 23: 101–7 193 MMMM ... features diVerentiating fetal screening from other antenatal Ethical and social aspects of evaluating fetal screening screening include its target, the involvement of other people and its relation to... health of the newborn population, public health or the health level of a given society And then we would have to face the dilemma of eugenics Ethical and social aspects of evaluating fetal screening. .. Perspectives in Biology and Medicine 40: 586–91 Hemminki, E., Santalahti, P and Toiviainen, H (1999) Impact of prenatal screening Ethical and social aspects of evaluating fetal screening on maternity