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Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the E.C. Biomed II Demonstration Project

Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the... Disease Markers 15 (1999) 125–131 125 IOS Press Ethical, Social and Economic Issues in Familial Breast Cancer: a compilation of views from the E.C. Biomed II Demonstration Project 1,# 1 9 Michael Steel , Elizabeth Smyth , Institute of Pathology, University of Pisa, 2 3 4 Hans Vasen , Diana Eccles , Gareth Evans , Via Roma 57, 56126, Pisa, Italy 5 6 10 Pål Møller , Shirley Hodgson , Department of Medical Genetics, City Dominique Stoppa-Lyonnet , Jenny Chang- Hospital, Belfast BT9 7AB, UK 8 9 10 11 Claude , Maria Caligo , Patrick Morrison Department of Medicine and Therapeutics and Neva Haites (Medical Genetics), Aberdeen University Medical School, Foresterhill, Aberdeen School of Biology, Division of Medical AB25 2ZD, Scotland, UK Science and Human Biology, University of St Andrews, Fife KY16 9TS, Scotland, UK Foundation for the Detection of Hereditary ABSTRACT: Demand for clinical services for familial breast cancer is continuing to rise across Tumours, c/o University Hospital, Europe. Service provision is far from uniform and, in Rijnsburgerweg 10, 2333 AA Leiden, The most centres, its evolution has been determined by Netherlands local conditions, specifically by local research CRC Genetic Epidemiology Research interests, rather than by central planning. However, in Group, Wessex Regional Genetics Service, a number of countries there is evidence of progress towards co-ordinated development and audit of clinics Southampton, SO9 4HA, UK providing risk assessment, counselling, screening and, Department of Medical Genetics, St Mary’s in some cases, prophylactic intervention. Much Hospital, Hathersage Road, Manchester M13 important information should emerge from continued 0JH, UK observation and comparative assessment of these The Norwegian Radium Hospital, N-0310, developments. In most countries for which relevant data are Oslo, Norway available, there is a distinct bias towards higher social Division of Medical and Molecular class among those who avail themselves of clinic Genetics, Guy’s Hospital, London Bridge, facilities (in line with findings from many other London SE1 9RT, UK health-promotion initiatives). This should be Unité de Génétique Oncologique, Institut addressed when considering future organisation of clinical services. Curie, Section Medicale, 26 Rue d’Ulm, Molecular genetic studies designed to identify the 75231 Paris cedex 05, France 8 underlying mutations responsible for familial breast Division of Epidemiology, German Cancer cancer are not generally regarded as part of the clinical Research Centre, Im Neuenheimer Feld 280, service and are funded through research grants (if at D-69120 Heidelberg, Germany all). Economic considerations suggest that there is a case for keeping this policy under review. Familial cancers throw into sharp relief certain ethical and legal issues that have received much recent attention from government advisory bodies, patients’ Correspondence: Dr. Michael Steel, School of Biology, representatives, professional commentators and the Division of Medical Science and Human Biology, University of St Andrews, Fife KY16 9TS, Scotland, UK popular media. Two are of particular importance; 0278-0240/99/$8.00 © 1999 – IOS Press. All rights reserved 126 M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer first, the right to gain access to medical records of advisory committees set up for England and relatives, in order to provide accurate risk assessment Wales [4] and, separately, for Scotland [5]. for a given family member, versus the right to privacy Comparable activity in several other European in respect of personal medical information and, countries is recorded in a number of papers second, the obligation (or otherwise) to inform family elsewhere in this volume. A major purpose of members of their risk status if they have not actively this Demonstration Programme has been to sought that knowledge. The legal position seems to collate experience from centres that have been vary from country to country and, in many cases, is operating under a variety of different unclear. In view of pressures to establish uniform circumstances, to identify potential solutions to approaches to medical confidentiality across the EC, it is important to evaluate the experience of participants common problems. in this Demonstration Programme and to apply the principle of “non-malfeasance” in formulating regu- lations that should govern future practice in this field. ORGANISATION OF CLINICS Data on economic aspects of familial breast cancer are remarkably sparse and outdated. As evidence accrues Since cancer family clinics must serve multiple on the influence of screening and intervention purposes — ascertainment of those at risk, risk programmes on morbidity and mortality, there is a strong case for evaluating the cost-effectiveness of assessment, counselling about screening or different models of service provision. intervention options, organising screening programmes, offering molecular diagnosis, identifying and responding to psychological INTRODUCTION needs of cancer families, auditing the outcome of their own activities, educating healthcare profes- sionals and the public and undertaking research Although the existence of familial forms of [2,6–8] — it might seem that they need to be set common cancers, including breast, has been up as multi-disciplinary organisations. The recognised for over a century, the medical availability, on a single site, of specialist profession, with a few notable exceptions, has geneticists, surgeons/gynaecologists, radiologists paid little attention to the clinical implications and psychologists, closely associated with a until the present decade. Suddenly, heritable molecular diagnostic laboratory, certainly cancer risk has become an issue of concern not provides all the requirements for an excellent only within the narrow field of clinical genetics service. However that is not always a practical but in the public domain, as demonstrated by the possibility and it would be counterproductive to proliferation of articles in the popular press, suggest that no service should be introduced until programmes on radio and television and pressure all these elements are together under one roof. In from families, who believe themselves to be at many centres there are separate but well- increased risk, for access to appropriate established genetics clinics, breast screening counselling and screening services. programmes, clinical psychology services and In most countries, health services were ill molecular biology laboratories whose remits can prepared to meet the surge in demand. This be extended to meet the needs of cancer families applies to North America [1] as well as to without necessarily re-housing any of them. Europe. “Cancer Family Clinics” have therefore There is, however some danger that the mere evolved, in piecemeal fashion, from a variety of existence of these individual components may be starting points, often based on research activity in presumed to constitute an adequate breast cancer academic centres [2]. In several instances, genetics service. It should therefore be made national and regional plans are now being clear that special provision must be made for co- formulated to extend services to a wider ordination. For example, if a patient is assessed population [3]. For example, the development of in the genetics clinic as requiring regular clinical cancer family clinic networks under the UK and radiological surveillance, then there must be National Health Service followed reports from M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer 127 a mechanism for ensuring that this will happen of twelve clinics surveyed: only two believed and, further, that the outcome of screening is there was no such bias in their population while recorded along with the genetic findings. In three could not make an assessment. In south- other words, someone must have overall east Scotland the bias takes the form of a responsibility for keeping track of what is considerable excess of university graduates happening to that patient (and her family) and the (including a substantial proportion of healthcare record should be maintained in a manner that will professionals) and a significant deficit of the permit audit of the service as a whole. In relation most deprived group [10] (Figure 1). While to mammography, there are specific additional similar patterns are well recognised in other responsibilities — to ensure appropriate quality health-promotion programmes [11], it does control, to retain serial films for comparative appear to be more extreme in this particular purposes and to regulate radiation exposure [9]. setting. To some extent, this is understandable, given that, in the early days of the service, women had to be uncommonly “aware” of the CHARACTERISTICS OF CLINIC specific health issue of familial breast cancer in order to find their way to the clinics. However, a CLIENTELE survey of European centres within this One feature that seems to be common to breast Demonstration Programme suggested that there cancer family clinics in several countries is a has been only a slight trend towards levelling-out strong bias towards higher social class among across the social spectrum as services have their clientele. This had been noted in seven out become better established. An interesting Fig. 1. Distribution of 425 consecutive women attending the Edinburgh breast cancer family clinic (“Genetics clinic”) according to deprivation category ( 1 = least deprived, 5 = most deprived. Carstairs and Morris, Deprivation and Health in Scotland. Aberdeen University Press, 1991). The corresponding distribution for women with breast cancer, seen by the symptomatic breast service over the same period, is shown for comparison. Note the striking deficit of women from deprivation category 5 and the relative over-representation of those from deprivation category 1 among the genetics clinic referrals. 128 M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer suggestion, from formal psychological assess- after 15 years, when 450 women aged 50 will ment of the Edinburgh clinic population, is that cease to require screening and another 450 those classified as “Blunters” on the Miller (spanning the full age range) will replace behaviour scale (i.e. who tend to cope with issues them. The total number receiving an annual by avoidance or denial) seem much less likely to clinical examination and mammogram will be be referred to the clinic by their family doctor if around 6000 and the total annual cost something they belong to a socially deprived group. This over 1 million Euros. An effective mutation- may imply that, at present, GP’s are not able to detection protocol might lead to some 30% of identify the less articulate subgroup of at-risk these patients being discharged from further women. follow-up because they can be shown not to be at Despite the well-known trend for breast cancer risk [13]. Obviously, the figures presented are to be commoner in women of high social class, somewhat speculative and depend, to a great the distorted social mix of breast cancer family extent, on the population frequency of recurring clinic patients should be addressed if the service founder mutations [12] but it would seem wise to is to reach all those in need. Information keep under review the economics of molecular campaigns directed both at primary healthcare laboratory input to this area. workers and at women from lower social groups may be necessary. There could be a specific “outreach” role for genetics nurse specialists and MEDICAL INFORMATION: PRIVACY perhaps some adjustment of clinic times and sites AND LEGITIMATE ACCESS (e.g. evening clinics in community centres) to accommodate women in low-status jobs. This In recent years there have been many attempts topic does appear to merit further study, perhaps to formulate an acceptable ethical and legal evaluating some of the approaches indicated framework that protects the privacy of individual above. records yet permits necessary epidemiological and clinical research [14–23]. These are often characterised by indecision or vagueness when THE ECONOMICS OF MUTATION addressing specific, real-life situations. In the SEARCHING field of genetics there is the special issue of whether information about heritable factors can In most centres, the service element of be regarded as the “property” of any one molecular laboratory work is confined to individual rather than belonging to all who share screening individual members of families where the same inheritance. At one extreme, it might be a specific germline mutation has already been suggested that taking a family history in the found. Searching for new mutations is regarded clinic infringes the rights of relatives who have as a research activity and can be funded only not given explicit permission for their illnesses to from competitive grants [3]. As the efficiency of be divulged. In that case, is it the doctor who mutation-detection improves, the case for asks the questions or the patient who answers regarding it as “pure research” becomes weaker who is at fault? Of course we descend rapidly and the economic argument for allocating some into absurdity in pursuing this argument. service resources for this purpose becomes Nevertheless, when assessment of risk and stronger [12]. decisions about management rest on a family’s A reasonable estimate of the new referral rate medical history, the onus is on the doctor to of families at substantially increased genetic risk ensure that the information on which he/she is of breast cancer is about 450 per year per million acting is as accurate and complete as possible. population. These, in the main, will be women This often requires seeking confirmation of requiring annual screening between the ages of diagnosis in a relative from hospital records. 35 and 50. A “steady state” will then be achieved In the majority of instances, relatives are M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer 129 willing, indeed eager, to authorise access to their explicitly accept the duty to respect the health records and there is no question that the confidentiality of medical information and deal preferred route to such information is through the with sensitive information every day. Exchange family member who has been referred to the of data about patients is a common and necessary clinic and who can raise the issue with her part of routine practice in virtually every relatives before a formal approach is made for speciality and professional standards of written consent. However, problems can arise confidentiality are taken for granted in such when there is little personal contact within a exchanges. There is at least a case for family or where the family tree is unusually recognising the legitimacy of this practice in extensive so that distant relatives whose medical genetics. The principle of “non-malfeasance” histories may be relevant, are not known would seem to be appropriate, meaning that personally to the proband. Then questions arise individuals should be protected from the harm about the justification or otherwise for taking that might come from release of their medical steps to verify the medical information. We may details but there should be no automatic not know, until the information has been prohibition of activities which cause no harm obtained, whether it falls into the category of [25]. genetic data “jointly owned” by all the family; yet, particularly in such a sensitive area as breast/ovarian cancer, to ask a relative — not in DUTY OF CARE direct contact with the proband and possibly unaware of any concern about familial cancer — There remains the vexed question of “the for access to her medical records, could often cousin in Australia”, subjecting the geneticist to cause unwarranted distress. Furthermore, the competing ethical pressures; on the one hand, to logistic problems of tracing relatives or their next respect the wish for privacy on the part of those of kin before proceeding to verify family family members with whom the clinic has direct histories provided in the clinic would add contact but, on the other, to recognise that more enormously to the workload (and cost) of a distant relatives have the right to be advised of cancer family service. possible genetic risk to themselves. As evidence While the law remains very uncertain in most grows for the benefits of early detection (or European countries, there are pressures to reach a prevention) of cancer through recognition of common policy, one which places a very high genetic risk, it becomes increasingly likely that a premium on the concept of privacy [21]. As relative who has not been advised of her possible indicated above, such a policy, if enforced, could risk status might bring a case for negligence operate to the detriment of good medical practice, against a geneticist (or his/her employing specifically, though not exclusively, in the field authority) who has known of the existence of that of genetics. It is worth noting that in existing risk but who has not taken reasonable steps to legal codes, privacy is never paramount warn all potentially affected members of the [17,21,24]. Provision is invariably made for family [17,22,25,26]. disclosure of medical information in the interests From the preceding discussion, it should be of public safety (e.g. in the case of “notifiable” clear that unwillingness on the part of the original infections) and, revealingly, to counter fraudulent patient to share with her family information about claims where healthcare is provided through genetic risk is unlikely to be an adequate private insurance! The public interest might be defence. In other words, if risk is recognised and better served by an approach to legislation that especially if there are risk-reduction measures deals very severely with abuse of confidential available, then there is a duty to transmit that medical information rather than placing barriers information. But how far does that duty extend? in the way of accessing that information for Does it apply only to those family members legitimate purposes. All health care professionals known to the original patient or does the clinic 130 M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer need to put in place mechanisms for extending Programme to begin realistic modelling of the family trees through access to public records of reductions in morbidity and mortality to be births, marriages and deaths — by advertising in anticipated from cancer family clinics. Attention the press or by circulating bulletins to General should therefore be given very soon to a thorough Practitioners? Who should bear the cost of these economic appraisal of this development in health measures? care. There are no simple answers to these questions but there may be an opportunity now to address them calmly before we are faced with an actual Acknowledgements case that could set a precedent, exacerbating an already difficult problem. The authors are grateful to the many families in all participating centres who co-operated generously in the establishment and assessment of breast cancer family services. We also COST EFFECTIVENESS acknowledge the constant help and advice of professional colleagues too numerous to identify Finally, while the motivation for establishment individually. of cancer genetics services is not primarily economic, it is prudent to examine the cost- effectiveness of any new development in health References care. The overall costs of breast cancer family clinics are not very difficult to calculate and can [1] Thompson, J.A., Weisner, G.L., Sellers, T.A. et be modified, for example, by altering the criteria al. Genetic services for familial cancer patients: a for eligibility (i.e. the age range of patients and/or survey of National Cancer Institute centers. J. the numbers of affected relatives, their ages of Natl. Cancer Inst. 87, (1995) 1446–1455. disease onset and the closeness of the family [2] Vasen, H.F., Haites, N.E., Evans, D.G. et al. relationship). Screening frequency may also be a Current policies for surveillance and management relevant variable and introduction of more in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. expensive techniques such as MRI could enter Eur. J. Cancer 34, (1998) 1922–1926. the equation. Greater use of nurse specialists and [3] Hodgson, S., Milner, B., Brown, I., Bevilaqua, genetics associates may play some part in G., Chang-Claude, J., Eccles, D., Evans, G., containing costs. The other side of the Gregory, H., Møller, P., Morrison, P., Steel, calculation — the savings to be made by C.M., Stoppa-Lyonnet, D., Vasen, H. and Haites, prevention or early detection of breast/ovarian N. Cancer genetics services in Europe. Disease cancer — is much more difficult to work out. Markers 15, (1999) 3–13. There are surprisingly few data on current costs [4] Harper, P.S. Genetics and Cancer Services: of managing advanced breast cancer in young Report of a working party for the Department of women. The two most commonly cited papers Health for England and Wales. DoH London (1997). [27,28] predate the development of very [5] The Scottish Office Department of Health: expensive drugs such as the taxanes or modern Priority Areas Cancer Team/Genetics Sub- aggressive approaches to chemotherapy with committee of the Scottish Cancer Co-ordinating autologous bone marrow reinfusion. Young and Advisory Committee. Cancer Genetics breast cancer patients are the most likely Services in Scotland. Edinburgh. (1998). candidates for these regimes. Some account [6] Ponder, B.A.J. Setting up and running a familial should also be taken of the “social” cost of cancer clinic. Brit. Med. Bull. 50, (1994) 732– prolonged illness and death in young women who have responsible jobs and/or who are bringing up [7] Schneider, K.A., Patenaude, A.F. and Garber, young children. However, we require data of the J.E. Testing for cancer genes: decisions, decisions. Nature Med.1, (1995) 302–303 type now emerging from this Demonstration M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer 131 [8] Eeles, R. Testing for the breast cancer [19] Rothenberg, K., Fuller, B., Rothstein, M. et al. predisposition gene, BRCA1. BMJ 313, (1996) Genetic information and the workplace: 572–573. legislative approaches and policy challenges. [9] Law, J.A. Cancers detected and induced in Science 275, (1997) 1755–1757. mammographic screening: new screening [20] Reilly, P.R., Boshar, M.F. and Holzmann, S.H. schedules and younger women with family Ethical issues in genetic research: disclosure and history. Br. J. Radiol. 70, (1997) 62–69. informed consent. Nature genet. 15, (1997) 16– [10] Smyth, E. Evaluation of a new clinical service for 20. women with a family history of breast cancer. [21] Vandenbroucke, J.P. Maintaining privacy and the MD thesis, University of Edinburgh. (1999). health of the people. BMJ 316, (1998) 1731– [11] Roberts, M.M., Alexander, F.E., Andersen, T.J. 1732. [22] ASHG statement: Professional disclosure of et al. Edinburgh trial of screening for breast cancer: mortality at seven years. Lancet 335, familial genetic informatiom. Am. J. Hum. Genet. (1990) 241–246. 62, (1998) 474–483. [12] Heimdal, K., Maehle, L. and Møller, P. Costs and [23] Wadman, M. Privacy bill under fire from benefits of diagnosing familial breast cancer. researchers. Nature 392, (1998) 6. Diseaese Markers 15, (1999) 167–173. [24] Reilly, P.R. Legal issues in genetic medicine. Ch 33 in Emery and Rimoin’s Principles and [13] Peelen, T., Cornelis, R.C., Van den Vliet, M. et al. The majority of Dutch high-risk breast cancer Practice of Medical Genetics. Churchhill families are due either to BRCA1 or BRCA2. Livingstone, New York. (1996). Eur. J. Hum. Genet. 4, (1996) 225–230. [25] Harris, J. The use of information (autonomy and [14] Royal College of Physicians of London working confidentiality). Disease Markers 10, (1992) group. Ethical issues in clinical genetics. London 195–198. (1991). [26] Offit, K. Clinical Cancer Genetics: Risk [15] Nuffield Council on Bioethics: Genetic Counseling and Management. Wiley-Liss. New screening; ethical issues. London (1993). York. (1998). [16] Newcombe, H.B. Cohorts and privacy. Cancer [27] de Koenig, H.J., van Ineveld, B.M., van Causes and Control 5, (1994) 287–291. Oortsmarssen, G.J. et al. Breast cancer screening [17] McLean, S.A.M. The new genetics: a challenge and cost-effectiveness; policy alternatives, to clinical values? Proc. Roy. Coll. Phys. Edin. quality of life considerations and the possible 26, (1996) 41–50. impact of uncertain factors. Int. J. Cancer 49, [18] Pembrey, M. and Anionwu, E. Ethical aspects of (1991) 531–537. genetic screening and diagnosis. Ch32 in Emery [28] Richards, M.A., Braysher, S., Gregory, W.M. and and Rimoin’s Principles and Practice of Medical Rubens, R.D. Advanced breast cancer: use of genetics. Churchhill livingstone, New York. resources and cost implications. Br. J. Cancer 67, (1996). (1993) 856–860. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Disease Markers Pubmed Central

Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the E.C. Biomed II Demonstration Project

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Copyright © 1999 Hindawi Publishing Corporation.
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Abstract

Disease Markers 15 (1999) 125–131 125 IOS Press Ethical, Social and Economic Issues in Familial Breast Cancer: a compilation of views from the E.C. Biomed II Demonstration Project 1,# 1 9 Michael Steel , Elizabeth Smyth , Institute of Pathology, University of Pisa, 2 3 4 Hans Vasen , Diana Eccles , Gareth Evans , Via Roma 57, 56126, Pisa, Italy 5 6 10 Pål Møller , Shirley Hodgson , Department of Medical Genetics, City Dominique Stoppa-Lyonnet , Jenny Chang- Hospital, Belfast BT9 7AB, UK 8 9 10 11 Claude , Maria Caligo , Patrick Morrison Department of Medicine and Therapeutics and Neva Haites (Medical Genetics), Aberdeen University Medical School, Foresterhill, Aberdeen School of Biology, Division of Medical AB25 2ZD, Scotland, UK Science and Human Biology, University of St Andrews, Fife KY16 9TS, Scotland, UK Foundation for the Detection of Hereditary ABSTRACT: Demand for clinical services for familial breast cancer is continuing to rise across Tumours, c/o University Hospital, Europe. Service provision is far from uniform and, in Rijnsburgerweg 10, 2333 AA Leiden, The most centres, its evolution has been determined by Netherlands local conditions, specifically by local research CRC Genetic Epidemiology Research interests, rather than by central planning. However, in Group, Wessex Regional Genetics Service, a number of countries there is evidence of progress towards co-ordinated development and audit of clinics Southampton, SO9 4HA, UK providing risk assessment, counselling, screening and, Department of Medical Genetics, St Mary’s in some cases, prophylactic intervention. Much Hospital, Hathersage Road, Manchester M13 important information should emerge from continued 0JH, UK observation and comparative assessment of these The Norwegian Radium Hospital, N-0310, developments. In most countries for which relevant data are Oslo, Norway available, there is a distinct bias towards higher social Division of Medical and Molecular class among those who avail themselves of clinic Genetics, Guy’s Hospital, London Bridge, facilities (in line with findings from many other London SE1 9RT, UK health-promotion initiatives). This should be Unité de Génétique Oncologique, Institut addressed when considering future organisation of clinical services. Curie, Section Medicale, 26 Rue d’Ulm, Molecular genetic studies designed to identify the 75231 Paris cedex 05, France 8 underlying mutations responsible for familial breast Division of Epidemiology, German Cancer cancer are not generally regarded as part of the clinical Research Centre, Im Neuenheimer Feld 280, service and are funded through research grants (if at D-69120 Heidelberg, Germany all). Economic considerations suggest that there is a case for keeping this policy under review. Familial cancers throw into sharp relief certain ethical and legal issues that have received much recent attention from government advisory bodies, patients’ Correspondence: Dr. Michael Steel, School of Biology, representatives, professional commentators and the Division of Medical Science and Human Biology, University of St Andrews, Fife KY16 9TS, Scotland, UK popular media. Two are of particular importance; 0278-0240/99/$8.00 © 1999 – IOS Press. All rights reserved 126 M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer first, the right to gain access to medical records of advisory committees set up for England and relatives, in order to provide accurate risk assessment Wales [4] and, separately, for Scotland [5]. for a given family member, versus the right to privacy Comparable activity in several other European in respect of personal medical information and, countries is recorded in a number of papers second, the obligation (or otherwise) to inform family elsewhere in this volume. A major purpose of members of their risk status if they have not actively this Demonstration Programme has been to sought that knowledge. The legal position seems to collate experience from centres that have been vary from country to country and, in many cases, is operating under a variety of different unclear. In view of pressures to establish uniform circumstances, to identify potential solutions to approaches to medical confidentiality across the EC, it is important to evaluate the experience of participants common problems. in this Demonstration Programme and to apply the principle of “non-malfeasance” in formulating regu- lations that should govern future practice in this field. ORGANISATION OF CLINICS Data on economic aspects of familial breast cancer are remarkably sparse and outdated. As evidence accrues Since cancer family clinics must serve multiple on the influence of screening and intervention purposes — ascertainment of those at risk, risk programmes on morbidity and mortality, there is a strong case for evaluating the cost-effectiveness of assessment, counselling about screening or different models of service provision. intervention options, organising screening programmes, offering molecular diagnosis, identifying and responding to psychological INTRODUCTION needs of cancer families, auditing the outcome of their own activities, educating healthcare profes- sionals and the public and undertaking research Although the existence of familial forms of [2,6–8] — it might seem that they need to be set common cancers, including breast, has been up as multi-disciplinary organisations. The recognised for over a century, the medical availability, on a single site, of specialist profession, with a few notable exceptions, has geneticists, surgeons/gynaecologists, radiologists paid little attention to the clinical implications and psychologists, closely associated with a until the present decade. Suddenly, heritable molecular diagnostic laboratory, certainly cancer risk has become an issue of concern not provides all the requirements for an excellent only within the narrow field of clinical genetics service. However that is not always a practical but in the public domain, as demonstrated by the possibility and it would be counterproductive to proliferation of articles in the popular press, suggest that no service should be introduced until programmes on radio and television and pressure all these elements are together under one roof. In from families, who believe themselves to be at many centres there are separate but well- increased risk, for access to appropriate established genetics clinics, breast screening counselling and screening services. programmes, clinical psychology services and In most countries, health services were ill molecular biology laboratories whose remits can prepared to meet the surge in demand. This be extended to meet the needs of cancer families applies to North America [1] as well as to without necessarily re-housing any of them. Europe. “Cancer Family Clinics” have therefore There is, however some danger that the mere evolved, in piecemeal fashion, from a variety of existence of these individual components may be starting points, often based on research activity in presumed to constitute an adequate breast cancer academic centres [2]. In several instances, genetics service. It should therefore be made national and regional plans are now being clear that special provision must be made for co- formulated to extend services to a wider ordination. For example, if a patient is assessed population [3]. For example, the development of in the genetics clinic as requiring regular clinical cancer family clinic networks under the UK and radiological surveillance, then there must be National Health Service followed reports from M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer 127 a mechanism for ensuring that this will happen of twelve clinics surveyed: only two believed and, further, that the outcome of screening is there was no such bias in their population while recorded along with the genetic findings. In three could not make an assessment. In south- other words, someone must have overall east Scotland the bias takes the form of a responsibility for keeping track of what is considerable excess of university graduates happening to that patient (and her family) and the (including a substantial proportion of healthcare record should be maintained in a manner that will professionals) and a significant deficit of the permit audit of the service as a whole. In relation most deprived group [10] (Figure 1). While to mammography, there are specific additional similar patterns are well recognised in other responsibilities — to ensure appropriate quality health-promotion programmes [11], it does control, to retain serial films for comparative appear to be more extreme in this particular purposes and to regulate radiation exposure [9]. setting. To some extent, this is understandable, given that, in the early days of the service, women had to be uncommonly “aware” of the CHARACTERISTICS OF CLINIC specific health issue of familial breast cancer in order to find their way to the clinics. However, a CLIENTELE survey of European centres within this One feature that seems to be common to breast Demonstration Programme suggested that there cancer family clinics in several countries is a has been only a slight trend towards levelling-out strong bias towards higher social class among across the social spectrum as services have their clientele. This had been noted in seven out become better established. An interesting Fig. 1. Distribution of 425 consecutive women attending the Edinburgh breast cancer family clinic (“Genetics clinic”) according to deprivation category ( 1 = least deprived, 5 = most deprived. Carstairs and Morris, Deprivation and Health in Scotland. Aberdeen University Press, 1991). The corresponding distribution for women with breast cancer, seen by the symptomatic breast service over the same period, is shown for comparison. Note the striking deficit of women from deprivation category 5 and the relative over-representation of those from deprivation category 1 among the genetics clinic referrals. 128 M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer suggestion, from formal psychological assess- after 15 years, when 450 women aged 50 will ment of the Edinburgh clinic population, is that cease to require screening and another 450 those classified as “Blunters” on the Miller (spanning the full age range) will replace behaviour scale (i.e. who tend to cope with issues them. The total number receiving an annual by avoidance or denial) seem much less likely to clinical examination and mammogram will be be referred to the clinic by their family doctor if around 6000 and the total annual cost something they belong to a socially deprived group. This over 1 million Euros. An effective mutation- may imply that, at present, GP’s are not able to detection protocol might lead to some 30% of identify the less articulate subgroup of at-risk these patients being discharged from further women. follow-up because they can be shown not to be at Despite the well-known trend for breast cancer risk [13]. Obviously, the figures presented are to be commoner in women of high social class, somewhat speculative and depend, to a great the distorted social mix of breast cancer family extent, on the population frequency of recurring clinic patients should be addressed if the service founder mutations [12] but it would seem wise to is to reach all those in need. Information keep under review the economics of molecular campaigns directed both at primary healthcare laboratory input to this area. workers and at women from lower social groups may be necessary. There could be a specific “outreach” role for genetics nurse specialists and MEDICAL INFORMATION: PRIVACY perhaps some adjustment of clinic times and sites AND LEGITIMATE ACCESS (e.g. evening clinics in community centres) to accommodate women in low-status jobs. This In recent years there have been many attempts topic does appear to merit further study, perhaps to formulate an acceptable ethical and legal evaluating some of the approaches indicated framework that protects the privacy of individual above. records yet permits necessary epidemiological and clinical research [14–23]. These are often characterised by indecision or vagueness when THE ECONOMICS OF MUTATION addressing specific, real-life situations. In the SEARCHING field of genetics there is the special issue of whether information about heritable factors can In most centres, the service element of be regarded as the “property” of any one molecular laboratory work is confined to individual rather than belonging to all who share screening individual members of families where the same inheritance. At one extreme, it might be a specific germline mutation has already been suggested that taking a family history in the found. Searching for new mutations is regarded clinic infringes the rights of relatives who have as a research activity and can be funded only not given explicit permission for their illnesses to from competitive grants [3]. As the efficiency of be divulged. In that case, is it the doctor who mutation-detection improves, the case for asks the questions or the patient who answers regarding it as “pure research” becomes weaker who is at fault? Of course we descend rapidly and the economic argument for allocating some into absurdity in pursuing this argument. service resources for this purpose becomes Nevertheless, when assessment of risk and stronger [12]. decisions about management rest on a family’s A reasonable estimate of the new referral rate medical history, the onus is on the doctor to of families at substantially increased genetic risk ensure that the information on which he/she is of breast cancer is about 450 per year per million acting is as accurate and complete as possible. population. These, in the main, will be women This often requires seeking confirmation of requiring annual screening between the ages of diagnosis in a relative from hospital records. 35 and 50. A “steady state” will then be achieved In the majority of instances, relatives are M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer 129 willing, indeed eager, to authorise access to their explicitly accept the duty to respect the health records and there is no question that the confidentiality of medical information and deal preferred route to such information is through the with sensitive information every day. Exchange family member who has been referred to the of data about patients is a common and necessary clinic and who can raise the issue with her part of routine practice in virtually every relatives before a formal approach is made for speciality and professional standards of written consent. However, problems can arise confidentiality are taken for granted in such when there is little personal contact within a exchanges. There is at least a case for family or where the family tree is unusually recognising the legitimacy of this practice in extensive so that distant relatives whose medical genetics. The principle of “non-malfeasance” histories may be relevant, are not known would seem to be appropriate, meaning that personally to the proband. Then questions arise individuals should be protected from the harm about the justification or otherwise for taking that might come from release of their medical steps to verify the medical information. We may details but there should be no automatic not know, until the information has been prohibition of activities which cause no harm obtained, whether it falls into the category of [25]. genetic data “jointly owned” by all the family; yet, particularly in such a sensitive area as breast/ovarian cancer, to ask a relative — not in DUTY OF CARE direct contact with the proband and possibly unaware of any concern about familial cancer — There remains the vexed question of “the for access to her medical records, could often cousin in Australia”, subjecting the geneticist to cause unwarranted distress. Furthermore, the competing ethical pressures; on the one hand, to logistic problems of tracing relatives or their next respect the wish for privacy on the part of those of kin before proceeding to verify family family members with whom the clinic has direct histories provided in the clinic would add contact but, on the other, to recognise that more enormously to the workload (and cost) of a distant relatives have the right to be advised of cancer family service. possible genetic risk to themselves. As evidence While the law remains very uncertain in most grows for the benefits of early detection (or European countries, there are pressures to reach a prevention) of cancer through recognition of common policy, one which places a very high genetic risk, it becomes increasingly likely that a premium on the concept of privacy [21]. As relative who has not been advised of her possible indicated above, such a policy, if enforced, could risk status might bring a case for negligence operate to the detriment of good medical practice, against a geneticist (or his/her employing specifically, though not exclusively, in the field authority) who has known of the existence of that of genetics. It is worth noting that in existing risk but who has not taken reasonable steps to legal codes, privacy is never paramount warn all potentially affected members of the [17,21,24]. Provision is invariably made for family [17,22,25,26]. disclosure of medical information in the interests From the preceding discussion, it should be of public safety (e.g. in the case of “notifiable” clear that unwillingness on the part of the original infections) and, revealingly, to counter fraudulent patient to share with her family information about claims where healthcare is provided through genetic risk is unlikely to be an adequate private insurance! The public interest might be defence. In other words, if risk is recognised and better served by an approach to legislation that especially if there are risk-reduction measures deals very severely with abuse of confidential available, then there is a duty to transmit that medical information rather than placing barriers information. But how far does that duty extend? in the way of accessing that information for Does it apply only to those family members legitimate purposes. All health care professionals known to the original patient or does the clinic 130 M. Steel et al. / Ethical, Social and Economic Issues in Familial Breast Cancer need to put in place mechanisms for extending Programme to begin realistic modelling of the family trees through access to public records of reductions in morbidity and mortality to be births, marriages and deaths — by advertising in anticipated from cancer family clinics. Attention the press or by circulating bulletins to General should therefore be given very soon to a thorough Practitioners? Who should bear the cost of these economic appraisal of this development in health measures? care. There are no simple answers to these questions but there may be an opportunity now to address them calmly before we are faced with an actual Acknowledgements case that could set a precedent, exacerbating an already difficult problem. The authors are grateful to the many families in all participating centres who co-operated generously in the establishment and assessment of breast cancer family services. We also COST EFFECTIVENESS acknowledge the constant help and advice of professional colleagues too numerous to identify Finally, while the motivation for establishment individually. of cancer genetics services is not primarily economic, it is prudent to examine the cost- effectiveness of any new development in health References care. The overall costs of breast cancer family clinics are not very difficult to calculate and can [1] Thompson, J.A., Weisner, G.L., Sellers, T.A. et be modified, for example, by altering the criteria al. Genetic services for familial cancer patients: a for eligibility (i.e. the age range of patients and/or survey of National Cancer Institute centers. J. the numbers of affected relatives, their ages of Natl. 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Disease MarkersPubmed Central

Published: Jun 7, 2002

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