Towards informed decisions about prenatal testing: A review

PRENNAL DIAGNOSIS, VOL 15: 1215-1226 (1995)

T O W m S INFORMBD DECISIONS ABOUT PRENATL TESTING: A REVIEW

THERESA M. MARTEAU

Psychology and Genetics Research Group, United Medical and Dental Schools of Guy’s and St Thomas’s, Guy’s Campus, London SEI PRT, U.K.

SUMMARY

There are now several well-documented psychological problems associated with prenatal testing programmes. These include poor understanding of tests undergone or declined, anxiety following false positive results, and false reassurance in those receiving negative test results. There is, as yet, little evidence concerning how to provide services to circumvent these. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options following the diagnosis of a fetal abnormality.

Possible methods of improving informed decision-making either about whether to undergo testing or whether to terminate an affected pregnancy are described drawing upon research from antenatal and other health care areas. Future challenges for clinical practice and research in this area concern the range of conditions and predispositions for which prenatal testing with the option of termination should be offered. KEY WORDS: prenatal screening; prenatal diagnosis; fetal abnormality; decision-making

INTRODUCTION

You are planning to set up a prenatal screening programme to detect those at high risk for Down syndrome, using serum screening and ultrasound markers. You consider that one of the prime objectives of the programme is to provide information to prospective parents which allows them to make informed decisions (Royal College of Obste- tricians and Gynaecologists, 1993). You embrace the philosophy of providing evidence-based services, therefore you want to know the most effective and efficient ways of giving information and support in order to facilitate informed decisions about testing, and, for those with a positive result, the future of the pregnancy. Turning to the mountain of published papers in this area you are likely to be sorely disappointed. This literature will give you a good idea of the many psychological problems associated with prenatal screening programmes. Such problems include poor understanding of tests undergone or declined, anxiety following false positive results and false reassurance in those receiving negative

0 1995 by John Wiley & Sons, Ltd. CCC 01 97-385 1/95/13 1215-1 2

test results (for reviews, see Green and Statham, 1996; Marteau and Slack, 1992). But th is literature provides little indication of how to provide services to circumvent these problems.

Research is needed to determine how these problems are best avoided or minimized, and the objectives of screening realized. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options.

This is a central problem in two respects. First, achieving informed decision-making is central to meeting one of the core objectives of prenatal testing services. Second, overcoming this problem and having a better informed group of women undergoing and declining testing, may go some way towards preventing anxiety following false positive test results and false reassurance following negative test results. While the scope of the review is upon research on the imple- mentation of prenatal testing, strategies for improving the provision of information and the facilitation of decisions are considered from a variety of areas. The need to address this issue is

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heightened by the technological developments that may soon allow testing for as many as 300 conditions from the same blood sample. This review ends by outlining one of the major challenges confronting those providing prenatal testing services: which of the technologically feasible tests should be provided, who should decide and on what basis.

OBJECTIVES OF SCREENING

To develop and evaluate any service it is essen- tial to determine its objectives. The majority of recently published reports on genetic screening emphasize the objective of providing information to facilitate informed decision-making, as illus- trated below.

Whether in the context of pregnancy and parenthood or life planning, the e$ectiveness and quality of genetic services are to be judged by the degree to which individuals and couples at risk are identijied and given timely infomtion that is of possible benefit, and suficiently precise to enable them to make informed decisions on the interventions available.

(Population Needs and Genetic Services: An Outline Guide. 1993. HMSO, p. 20).

The objectives of antenatal screening for haemoglobinopathies are stated as follows in a report on services for the haemoglobinopathies:

To give women and their partners information about their genetic status, so that they can make an informed choice about whether to have prenatal diagnosis.

(Department of Health. Report of a Working Party of the Standing Medical Advisory Committee on Sickle Cell, Thalassaemia and other Haemoglobi- nopathies. 1993. HMSO, p. 24).

A report from the Royal College of Physicians in London provides four objectives of prenatal diagnostic services:

to allow the widest possible range of informed choice to women and couples at risk of having children with an abnormalitv:

to provide reassurance and reduce the level of anxiety associated with reproduction; to allow couples at risk to embark on having a family knowing that they may avoid the birth of seriously affected children through selective abortion; to ensure optimal treatment of affected infants through early diagnosis.

(Royal College of Physicians Working Party. 1989, p. 1).

These UK perspectives are echoed in a recent US report:

Our committee stressed the importance of autonomous decision making by individuals and by the family even ifthe development of a genetic disease might be the outcome. We believe that in a society such as ours, autonomy far outweighs any public health considerations.

(Andrews, Fullarton, Holtman and Motulsky, 1994, p. viii).

These views are largely those of professionals working within genetics. A contrasting view is seen in a report on population health outcomes produced by the Faculty of Public Health Medicine in the UK, which specifies the following outcome objective of prenatal services:

to reduce the number of infants born with Down syndmme and neural tube defects.

(McColl and Gulliford, 1993: p. 48).

This latter view was echoed by David Danks, when he was director of the Murdoch Institute for Research into Birth Defects, in Australia. He states that for parents to produce knowingly a child with a genetic problem ‘seems very self-indulgent’. James Watson has similarly judged parents who choose not to terminate pregnancies affected by fetal abnormalities:

This [genetic prediction] would make possible the routine diagnosis of vast num- bers of genetic conditions, which should be eliminated where necessary by abortion; the world must shed the idea that this is evil. a r

TOWARDS INFORMED DECISIONS ABOUT PRENATAL TESTING: A REVJEW 1217

it is a tnce act of moral cowardice to allow children to be born with known genetic defects.

(cited in Short, 1993).

These disparate views reflect a fundamental disagreement on the primary objective of prenatal diagnosis. While the majority of reports stress the importance of informed decision-making, this may not reflect the views of public health physicians or clinicians who are not genetically trained. But while there is no consensus as yet on the primary objective of prenatal services, most would agree that women's decisions about tests should be informed.

DECISION-M AKING

The two main decisions that confront pregnant women are whether to undergo prenatal testing and, for those receiving a positive diagnosis, whether to continue with the pregnancy. How these decisions are best facilitated has yet to be determined.

Undergoing tests There is a widely held view amongst health

professionals and policy makers that a woman's decision about whether to undergo prenatal screening should be an informed one (Black Report, 1979). This is justified both ethically, as protecting individuals' autonomy, and psychologically, as preparing women for different outcomes and thereby improving their psychological well-being. There is, however, no consensus on what consti- tutes an informed decision. It could mean providing women with information, irrespective of whether they understand or use it; it could mean ensuring that they have received and understood the information; or it could mean that they have used the information to evaluate all their options before making a decision.

Few, if any studies have attempted to evaluate the last of these criteria. Several studies, however, provide evidence that the first two are not always met. There is a large body of evidence attesting to the poor understanding some women have of the prenatal tests they have been offered or undergone. For example, two days post-partum, 39% of women could not correctly state whether they had

undergone maternal serum alpha-fetoprotein (AFP) screening for spina bifida (Marteau et al., 1988). In a more recent study only one third of women offered serum screening for Down syndrome correctly understood that a negative test result did not mean that the baby would have no problems (Smith et al., 1994a). Observational studies of obstetricians and midwives presenting prenatal screening and diagnostic tests show that often very little and, occasionally, misleading information is given. In one study, routine consultations between 102 pregnant women and an obstetrician or midwife were tape-recorded to determine how AFP screening for neural tube defects and Down syndrome were presented (Marteau et al., 1992~). Overall, little information was provided about the test. The meaning of a positive result was mentioned in 12% of consultations, and the meaning of a negative result was mentioned in just 3% while the likelihood of a positive result was never mentioned. In addition, inaccurate information about the conditions being screened for, and the power of the test, were occasionally evident.

The consequences of being poorly informed about tests include undergoing tests that, with more information, would not have been undergone (Round and Hamilton, 1993; "hornton et al., 1995), and conversely, not undergoing tests that with more information might have been undergone (Marteau et al., 1992b). Having more information about tests before undergoing them might also be of benefit in preparing women for possible adverse outcomes of testing (Weinman and Johnston, 1988). This last benefit has yet to be shown for prenatal testing. One trial where this was assessed for women receiving false positive results on a screening test, lacked the power to answer the question (Marteau et aL, 1993a). Another trial examined the impact upon women receiving negative test results of being given extra information prior to testing. Those offered extra information in an individual session, as opposed to a class, were less anxious towards the end of pregnancy than were women in the control group (Thornton et al., 1995). It is unclear, however, whether this effect was mediated by knowledge. Anxiety in this study did not approach clinical levels in any of the groups. It therefore remains to be determined whether clinical levels of anxiety after a false positive result (Marteau et al., 1992a), or blaming after a false negative result (Hall et a l , submitted for publication), would be avoided or

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reduced if women undergoing screening were well-informed.

While the psychological benefits of providing more information to women before they undergo tests has yet to be examined in a well-designed study, protecting an individual’s autonomy requires that women are given good information about a test and its implications before undergoing it. Understanding why health professionals’ provision of information about tests is poor is a necessary first step to trying to improve it. There are a number of possible reasons why midwives and obstetricians often provide minimal, and sometimes inaccurate, explanations of routine tests: first, clinics have insufficient resources to devote much time to the explanation of prenatal tests; second, health professionals lack the knowledge and skills to provide more information; third, health professionals underestimate how much information women need or want about prenatal screening tests; and fourth, women may not want more information.

Concerning the first explanation, health professionals report insufficient resources as one of the reasons for not spending more time explaining screening tests to women. In a survey of 351 obstetricians, nearly half the sample said that they did not have adequate resources for counselling all the women to whom they were offering serum screening for Down syndrome (Green, 1994). This was in contrast with resources for counselling about amniocentesis, for which only 30% said that their resources were inadequate. While extra resources may well be necessary, they would not be sufficient to improve pre-test presentation, because midwives and obstetricians themselves sometimes lack the information required to present tests fully and accurately. For example, 45% of 148 midwives taking part in a Swedish study who routinely presented AFP screening for neural tube defects, lacked the basic knowledge required to inform women about this test (Sanden, 1985). Ten years later, a similar lack of knowledge was evident amongst midwives in the UK (Smith et al., 1994b). While obstetricians had greater knowledge than midwives, their knowledge was not perfect: for example, over 25% underestimated the risks associated with amniocentesis. In a survey conducted in North America to determine knowledge of obstetricians and general practitioners about cystic fibrosis carrier testing, many were found to lack even basic information about

the disease. For example, 43% erroneously believed that CF was more common in one sex than another (Rowley et al., 1993). Ensuring that midwives, obstetricians and other health professionals presenting tests have a good understanding themselves of prenatal tests seems a necessary but often neglected step in increasing the chances that women will receive good information.

The brevity of presentation may arise from health professionals’ attitudes towards patients’ needs for information. Doctors tend to underestimate patients’ need for, and ability to understand, information (Marteau, 1989). This may reflect fears, without foundation, that providing too much information will make patients anxious. The majority of studies report either an anxiety- reducing effect of information, or no effect of information upon anxiety; only very occasionally has information been found to raise anxiety (for review, see Ley, 1988).

In addition to the influence that staff bring to bear on how prenatal screening tests are presented, the attitudes of women may also be influential. The prospect of a fetal abnormality may be too threatening for women, and the health professionals providing their care, to discuss at length. While 62% of women reported after their babies’ births that they had been concerned about fetal abnormality during pregnancy, only 17% of them reported t h i s fear while pregnant (Royal College of Midwives, 1966). Reluctance to acknowledge t h i s fear may therefore be one factor keeping discussion of prenatal screening for fetal abnormalities to a minimum.

Diagnosis of a fetal abnormality In contrast with decisions about undergoing

testing, there has been relatively little systematic research on decision-making following the diagnosis of a fetal abnormality. Studies in this area have been descriptive, focusing largely upon the woman as the sole decision-maker. The social context within which the decision is made has not been systematically studied. This context includes women’s partners and their views, as well as the views of those outside of the family. Much of the research on reproductive decisions has been conducted within genetics clinics, with a focus on decisions of those at bown high risk for a particular condition (for review, see Shiloh, 1996). Differences between women and men’s attitudes

TOWARDS INFORMED DECISIONS ABOUT PRENATAL. TESTING: A REVIEW 1219

and decisions about genetic risk have been reported in a number of studies (Beeson and Golbus, 1985; d'Ydewalle and Evers-Kiebooms, 1987; Sorenson and Wertz, 1986). In one study, men were less prepared than their partners to chance having a child with an abnormality (Beeson and Golbus, 1985). If this gender dif- ference is reliable, it reflects a source of conflict for many couples. There have been no attempts to document the extent of agreement and disagreement between couples following the diagnosis of a fetal abnormality. Similarly, there are no studies documenting the relative influence upon decisions of the partner and others close to the pregnant woman. It is possible that the extent to which a couple share the same decision will affect their longer term adjustment. But such questions require study. Research in other areas, including health, shows that sometimes the views of another can be a more important predictor of a decision than the views of the individual facing that decision (Fishbein and Ajzen, 1975).

The one consistent predictor of the outcome of a pregnancy in which a fetal abnormality is detected, is the seriousness of a condition, as defined using medical criteria. This seems to be the strongest predictor of whether an affected pregnancy is terminated (Drugan et d., 1990; Pryde et aL, 1993; Hassed et d., 1993). Serious- ness is used to encompass lethality of a condition, variability of expression, nature of any disability, and the likelihood of the fetus being affected. Findings vary as to the importance of the demographic variables which are most often assessed. One of the largest studies involved 134 pregnancies affected with perinatal lethal conditions, of which 87 families elected to terminate affected pregnancies. The main predictor of these decisions was the type of defect. The decisions were unrelated to parents' levels of education, employment status, age, ethnic group, income, religious preference, obstetric history or gesta- tional age at presentation (Hassed et al., 1993).

Health professionals are an important source of information about conditions, particularly those with which parents are unfamiliar. The views of health professionals may therefore have a significant influence upon parents' perceptions of seriousness, and hence their decisions about whether to terminate or to continue with an affected pregnancy. The seriousness and burden of a condition can be one of the most difficult pieces of information to convey, particularly for con-

ditions that are very variable. The ways in which health professionals tackle this have not been studied. There is indirect evidence to suggest that the information parents are given for any one condition can vary according to the health professional counselling them. In two uncontrolled studies, the proportion of women who terminated pregnancies affected by a sex chromosome anomaly was significantly higher amongst those consulting only an obstetrician, than amongst women consulting geneticists or paediatricians (Robinson, 1989; Holmes-Siedle et aL, 1987). While consulting geneticists or paediatricians may reflect a greater desire to continue with an affected pregnancy, it may also reflect exposure to different information or counselling styles.

Evidence from other areas suggests that different clinical experiences with a condition are associated with different views about the nature of that condition (Christensen-Szalanski et aL, 1983; Marteau and Baum, 1984). Physicians' estimates of the likelihood of death from a particular disease were found in one study to be related in part to the frequency with which physicians had encountered people with the illness, and in part to recent journal coverage, as measured by the number of column inches in the New England Journal of the preceding six months (Christensen-Szalanski et al., 1983). Self-report and observational studies suggest that obstetricians take a more directive approach to counselling women before, as well as after, the diagnosis of a fetal abnormality, than do clinical geneticists or genetic nurses (Marteau et d., 1994; Marteau et d., 1993b). The results of all these studies suggest that the counselling that parents receive will vary according to the type of health professional they consult after the diagnosis of a fetal abnormality. Evidence from uncontrolled studies suggests that this will lead to variation in decisions taken by parents.

While guidelines for practice are clear in stressing the importance of non-directiveness for counselling, they fail to acknowledge how difficult, if not impossible, it is to achieve non- directiveness in practice (Lippman, 1991; Clarke, 1991). They also fail to acknowledge what the patient may want from consultations after the diagnosis of a fetal abnormality. When attending for genetic counselling, a sizeable minority want some direction. For example, in a postal survey of almost 800 families who had received genetic counselling, 42% stated that, in addition to the facts, they wanted the counsellor's opinion of

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what they should do (Somer et al., 1988). It is not known what proportion of those facing decisions about termination following detection of an abnormality want guidance, nor the kind of guidance that they might want. Preferred roles in decision making seem to be strongly influenced by the severity of the health threats that people face. While the majority of women think that they would want to select their own treatment if they developed breast cancer, the majority of women with breast cancer want a doctor to make decisions on their behalf (Degner and Sloan, 1992). This suggests that when facing a major threat to health, patients are more likely to look to health professionals for some guidance. Follo- wing detection of a fetal abnormality, particularly one about which they know very little, parents may actively seek guidance from health professionals providing counselling. The outcome of fulfilling or not fulfilling such requests awaits study.

TOWARDS INFORMED DECISION-MAKING

Determining the most effective and efficient ways of providing information to patients to help them to make decisions about their care is important for many areas of health care (Ley, 1988). Several approaches are being or have been developed to improve the basis for patients' decisions about their care, which are described below.

Staff interventions Guidelines-Several sets of guidelines have

been produced for midwives and obstetricians offering prenatal screening and diagnosis to pregnant 'women (Joint Study Group on Fetal Abnormalities, 1989; Drife and Donnai, 1991; Royal College of Obstetricians and Gynaecolo- gists, 1993) but their effectiveness in influencing clinical practice has not been evaluated. Grimshaw and Russell (1993), in a systematic review of evaluations of clinical guidelines, found that in 55 out of 59 published evaluations there was evidence that the guidelines improved care. Guidelines may be less effective, however, in improving the way in which obstetricians and midwives help women make decisions about prenatal diagnosis. This requires knowledge about the tests, as well as communication skills, areas

where there is evidence of some deficiency. This makes training a necessary adjunct to guidelines for improving practice in this area.

Training professionals-Health professionals are rarely given any training before, or after, qualifying in how to present complex information effectively, or in how to help patients make informed decisions about their care. There have been several studies demonstrating the short and long term effectiveness of communication skills training for medical students and general practitioners (BouIton et al., 1984; Maguire et aL, 1986). There have been few evaluations of brief training packages, developed either for general practitioners or for hospital-based health professionals. We have recently developed and evaluated a brief training package for obstetricians and midwives (Smith et al., 1995). The aim of the training was to increase the amount of accurate information routinely provided by obstetricians and midwives when presenting prenatal screening tests, and to improve their communication skills when presenting this information.

Midwives and obstetricians were randomly allocated to one of three groups: two intervention groups or a control group. Communication skills and information given about the test were assessed at baseline, post-training and three months later, from transcripts of audiotapes of the consultations. Both intervention groups received a one hour training session involving small group discussion focused around a video. The video comprised eight scenes depicting different aspects of presenting screening, including what information to give, how and when to present it, checking patient understanding, and facilitating informed decision- making. In addition to this session, one group received individual feedback on their baseline and post-training consultations. The amount of information given and the skills used in giving it were significantly improved after training, and three months later, for both intervention groups, although the changes were! greater in the group given feedback. These results show that with brief training, modest improvements in the communication of information about prenatal tests can be made.

The implications of such training for clinical practice may be severely limited by the low proportion of obstetricians and midwives willing or able to receive training to improve their skills at giving information to patients. Only 27% (35/126)

TOWARDS INFORMED DECISIONS ABOUT PRF,NmAL TESTING: A RGVIEW 1221

of those who were eligible to participate in the study completed it. This problem might have been reduced if time had been set aside for such training by clinic managers given that, for some staff, clinical duties prevented them from attending the training session. As well as lack of time, motivation seemed to play a part: those who dropped out of the trial had significantly poorer skills at baseline compared to those who attended and completed the study. If training is to be maximally effective, it may need to be mandatory.

Patient-focused interventions Alongside initiatives to improve patient outcomes

through changing health professionals' behaviour, several initiatives have focused upon patients. These are of two types: those aimed at helping patients to get the most out of consultations; and, those aimed at supplementing the information that patients are given during consultations.

Patient training-There have been several studies of medical consultations showing that, with relatively little prompting, patients can be trained to be more effective at obtaining information from consultations (Roter, 1977; Greenfield et al., 1988). In one such study, patients received a message before a consultation informing them that the doctor was happy to answer any questions. This resulted in patients reporting that they had asked more questions during their consultations. They also felt more. satisfied with their visit (Thompson et a[., 1990). In another study, patients who were helped to list questions they wanted to ask of their physicians were twice as effective as a control group in eliciting information during their consultations (Greenfield et aL, 1988). Such an approach may have utility in antenatal care. Patients could, for example, be provided with a list of questions that women sometimes like to know the answers to before deciding about particular tests. Such a generic list may provide not only a prompt for question asking, but also a framework for the information that they could acquire.

Supplementary information-Three possible methods of providing patients directly with more information are:

offering patients extra consultations with midwives, either individually or in groups,

during which additional information is given orally; using a variety of media, including written information, videos or audiocassettes for home consumption; using interactive media.

The effectiveness and efficiency of each of these methods in increasing understanding and informed decision-making have yet to be determined. Given that people vary in the amount and type of information that they want before making any decision (Ende et al., 1989), the use of interactive media seems a promising method for informing women about prenatal testing (Card et al., 1993). One possible drawback of this medium is that it will, initially at least, only be accessible to patients when visiting a clinic. While it has enormous face validity as a method of informing people prior to decision-making, caution is needed. There is, for example, anecdotal evidence to suggest that while people enjoy accessing information from these systems, they can lead to a false sense of confidence that information has been acquired. When compared with the effectiveness of well-designed written information, they may not have a great advantage. Like all approaches to providing information, this requires evaluation in well-controlled studies.

FUTURE CHALLENGES

Generic consent Technological developments may soon make it

possible to screen for many genetic diseases from one blood sample. This poses new challenges to those providing services to facilitate informed decision making. The one that has been most discussed concerns the nature and length of the consent procedure. Elias and Annas (1994) suggest a need to develop strategies based on general or 'generic' consent. Such a strategy would emphasize issues common to screening for all conditions. These include the limitations of screening tests, particularly the fact that negative results do not guarantee a healthy child and the possible need for further, invasive tests. Elias and Annas liken this type of broad consent to that obtained to perform a physical examination, for which patients are not told all the possible abnormalities that will be searched for. The

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consequences of conducting screening in this way require study. Fost (1993) argues that there is sufficient evidence from introducing neonatal tests performed without parents' knowledge to suggest that failing to inform parents about all the tests they are about to undergo is fraught with problems. Once a problem has been detected, however minor, parents can have great difficulty in continuing with the pregnancy (Rothman, 1986). The consequences of informing parents before or after testing about conditions for which screening is offered, requires a well-controlled study.

While decisions about whether to undergo tests and how to manage affected pregnancies are decisions for women to make, such decisions are bounded by the options available, such as the tests that are on offer, and the conditions for which obstetricians are prepared to offer terminations. The decisions of those providing and purchasing services are hence critical in determining the decisions women face in clinics. These decisions are likely to become more critical if women receive less information about particular conditions for which they undergo testing.

Which tests to offer One of the key questions raised before a

particular prenatal test is routinely offered, is whether the condition is sufficiently serious to warrant early detection with the offer of termination of affected pregnancies. This begs further questions about who should decide and on what basis.

There have been several studies documenting the views of obstetricians, geneticists and the public towards prenatal testing and terminations for a wide range of conditions. Consensus is evident on what may be considered as the more, and the less, clinically severe conditions. So, for example, in a recent British survey, over 90% of geneticists and obstetricians were in favour of offering testing and terminations for pregnancies affected by anencephaly (Michie et al., 1995). Over 75% of obstetricians in three large surveys in France, UK and Portugal are in favour of offering tests and terminations for pregnancies affected by Down syndrome (Julian et al., 1989; Geller et aZ., 1993; Drake et al., in press). By contrast, fewer than 20% of professionals or the general public are in favour of' offering terminations for fetuses with cleft lips. There is also a consensus on testing for non-disease charac- teristics such as for fetal sex, when there is no

risk of a sex-linked disorder (Michie et al., 1995).

There is less consensus concerning fetuses affected by one of the sex chromosome anomalies, with fewer than 50% of UK obstetricians and geneticists favouring the offer of terminations for these conditions (Drake et aL, in press). Similarly, there is little consensus on testing for adult onset conditions for which there is treatment, although no cure. When asked their views on the avail- ability of testing and termination of affected pregnancies for a cancer that would develop in early adulthood, 50% of obstetricians replied that it should not be available at all, a view shared by a similar proportion of ethicists, but just 14% of cIinical geneticists (Marteau et aL, in press).

METHODS FOR DEERMINING THE PROVISION OF PRENATAL SCREENING

SERVICES

The past two years have witnessed an increase in concern amongst clinicians and others that our ability to detect an ever expanding array of conditions has outstripped our methods for determining their clinical appropriateness. Such concerns have been fuelled by genetic developments in testing for such late onset conditions as Alzheimer's disease (Post et aL, 1992) and poly- and multi-genic conditions for which testing may reveal a predisposition but not certainty of disease in adult life. Many have called for debates to be set up (Lilford and Thornton, 1993; Robinson and Neilson, 1993; Elias and Annas, 1994; Sachs and Korf, 1994). The importance of involving non- professionals, including parents of affected children (Simms, 1993) as well as representatives of the general public (Andrews et aL, 1994; Michie et aL, 1995) has also been emphasized. In the UK, recommendations have been made for the establishment of a central coordinating body to formulate detailed criteria for the introduction of genetic screening programmes (Nuffield Council on Bioethics, 1993; House of Commons Science and Technology Committee, 1995). Lilford and Thornton (1993) have established an informal ethics committee to advise them on cases where they are uncertain about whether the severity of the conditions warrants termination of an affected pregnancy in the third trimester. Such a system is routinely used in Portugal (Feijoo, 1991), largely to protect individual doctors from taking respon-

TOWARDS INFORMED DECISIONS ABOUT PRENATAL TESTING: A REvIETK 1223

sibility for decisions that fall outside of the narrow limits of the abortion law.

Involving the public more in debates and decisions about the scope of genetic services is important in ensuring that provision reflects public not scientific priorities. The general public are often alarmed at the accelerating impact of science on society, but they can also understand the benefits of science. In the United States in 1976, a citizens’ panel was appointed to review the risks of recombinant DNA research. This broadly repre- sentative group of non-scientists was given a crash course in molecular biology and was able to tackle an extremely complex science policy issue and arrive at a solution widely regarded as intelligent and responsible.

An initiative to involve the public more in science policy in the UK took place in 1994 under the auspices of the Science Museum in London. A lay panel of 16 met for three days, with expert witnesses at their disposal, to deliver their views on plant biotechnology (Baker, 1995). The model was adapted from one developed in Denmark to determine public views on a range of science and health-related matters, including the role of animals in research, and infertility services (Hansen et al., 1992). Such an approach is costly. Evaluations have only taken the form of in depth descriptions on the process. Given the increasing commitment from professionals to involving the public in science and health policy, it is timely to consider the most cost-effective ways of doing so.

CONCLUDING COMMENTS

Implications of research findings for current clinical practices

This review has highlighted many areas where more research is needed if we are to attain evidence-based provision of prenatal testing services. While we await the results of such research, much clinical practice would be improved by adopting the guidelines already published on the organisation and delivery of prenatal testing services, guidelines that are broadly based upon research evidence. These highlight three critical points:

The team and a leader need to be identified, who provide the service. The composition should

extend beyond midwives and obstetricians to include paediatricians, surgeons, radiologists, sonographers, general practitioners, bereavement counsellors, as well as representatives of parent groups with experiences of fetal abnormality. Training of all professionals who are involved in providing antenatal care. This needs to include teaching about the technical aspects of tests, up- to-date information on the condition being tested for, as well as skills training in how to present information to increase the chances that it is understood and retained. Written protocols need to be prepared or amen- ded from existing ones. These should cover all the stages of screening and diagnosis. Such protocols need to be produced by the team who will provide the service, thus facilitating con- sistency in approaches taken by the different professionals that women will encounter as they enter screening programmes.

Future research There is widespread agreement that before

any screening or testing programme is introduced, it requires evaluation (Andrews et al., 1994). There is also recognition that the evaluation of any health technology needs to encompass psychological and social dimensions as well as clinical ones (Department of Health, 1992). One of the more pressing research questions for prenatal testing services concerns how best to help patients make informed decisions about the choices that such testing provides. Answering such questions requires expertise from many disciplines, including psychology, sociology and economics as well as obstetrics, midwifery and genetics. Experimental designs are needed, involving comparisons of different methods of achieving informed decisions. In addition to determining how to provide services, there is a pressing need to determine what to provide. Clinicians and others involved with prenatal services recognize the importance of developing a framework within which to decide the tests that should be offered. Developing such a framework provides an opportunity to evaluate methods applicable to much health and science policy.

Responding to these research needs will go some way towards ensuring that the benefits offered by the new genetics are realized without the harm that could ensue.

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ACKNOWLEDGEMENTS

'Ileresa Marteau is supported by The Wellcome Trust.

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Towards informed decisions about prenatal testing: A review