- Email: [email protected]
Working towards ethical management of genetic testing
DEPARTMENT OF ETHICS
Department of ethics
Working towards ethical management of genetic testing Michael Parker, Anneke Lucassen Developments in genetic testing and increased public awareness of inherited disease have led to increasing interest in and concern about the ethical issues raised by clinical genetics. We looked at methods for ethical management of genetic testing, and investigated the advantages and limitations of use of ethical guidelines in clinical genetics. We believe that a key element in successful management of genetic testing in addition to guidelines will be availability of ethics training and support for geneticists, nurses, and counsellors. Clinical ethics committees and clinical ethicists can act as a useful focus for such training and advice if their role is seen to be genuinely supportive by health professionals and patients. We also argue that increased public involvement at the national level in policy debate about control of genetic testing is needed. In 1998, Donna Shalala, the then US Secretary of Health and Human Services, chartered the Secretary’s advisory committee on genetic testing (SACGT) in response to recommendations of two working groups, which had been commissioned jointly by the US National Institutes of Health and the US Department of Energy—the task force on genetic testing; and the committee to evaluate the ethical, legal, and social implications programme of the human genome project. SACGT describes its role as that of helping the nation to “prepare for some of the revolutionary changes in clinical and public-health practice resulting from the continued and increasing use of genetic testing”. In June, 1999, the committee was invited to assess adequacy of management of genetic tests in the USA and to make recommendations, in view of public consultation, to the Secretary for additional control if necessary. The outcome of SACGT’s assessment was publication, in 2000, of Enhancing the Oversight of Genetic Tests.1 As requested by the Secretary, members of the public had an important role in this assessment. More than 400 groups and individuals contributed to the deliberations of the committee, including 250 people who attended a public consultation in January, 2000, and this contribution is an example of increased international interest in the role of the public in development of health policy. In the UK for example, the Human Fertilisation and Embryology Authority2 and the Nuffield Council on Bioethics3 have each held public consultations on important ethical issues in genetics. Furthermore, the Human Genetics Commission commissioned a MORI (marketing and opinion research international) poll, in which they asked the public for their opinion on various genetic issues, and they launched a detailed consultation document, entitled Whose Hands on Your Genes?4 This report received 250 responses from the public and professional organisations, and a report to the UK Government taking these responses into account was published in May, 2002.5 In Australia too, the Australian Health Ethics Committee carried out public consultation Lancet 2002; 360: 1685–88 Ethox Centre, Institute of Health Sciences, University of Oxford, Oxford OX3 7LF, UK (M Parker PhD); and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton (A Lucassen MRCP) Correspondence to: Dr Michael Parker (e-mail: [email protected])
THE LANCET • Vol 360 • November 23, 2002 • www.thelancet.com
while they prepared the National Health and Medical Research Council report on ethical aspects of genetic testing.6
Need for control of clinical practice Public participation in development of health policy is a good thing for various reasons.7 For example, people who are not health professionals can provide important insights because they see implications of health-care decisions from the view of the actual or potential service user. SACGT reported that one of the concerns of people who attended the public meeting in January, 2000, was that the committee was interpreting its remit too narrowly.1 SACGT deliberations focused mainly on four questions: the manner in which genetic tests are introduced into clinical practice; adequacy and appropriate regulation of laboratory quality assurance; degree of understanding of genetics by health-care providers, patients, and the public; and continued availability and quality of testing for rare diseases. As a result, the report contained little about management of actual use of such tests in day-to-day practice of clinical genetics, and people present at the public meeting felt that this absence overlooked a key element in control of genetic testing. The committee chose not to interpret its brief more broadly in response to these comments, but it did argue that “additional oversight of genetic tests should occur through a continuous review of standards of care and practice by the clinical community”,1 and it envisaged a continuing and perhaps enhanced role in the setting of standards and development of guidelines in clinical genetics for other bodies, such as professional organisations and patients’ advocacy groups, and individuals and families affected with a genetic disorders. Although some US states (such as New York and California) have regulations that go beyond federal ones, it is at the level of the professional organisation that most of the important guidance for day-to-day management of clinical genetics is to be found. This support includes guidelines produced by the National Society of Genetic Counselors,8 the American College of Medical Genetics (http://www.acmg.net/), and the American Society of Human Genetics,9 among others. In the UK, there has been less emphasis on comprehensive recommendations and guidelines in clinical genetics and more on expansion of regional and national networks for discussion and accomplishment of 1685
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DEPARTMENT OF ETHICS
Panel 1: Case one
Panel 3: Case three
Ruth is a young woman in her mid 20s, who makes contact with her local clinical genetics unit because she wants to have a predictive test for breast cancer. There is a strong history of breast and ovarian cancer in her family—her mother, her grandmother, and her aunt all died of the disease at a young age. She also has an older sister who is presently undergoing treatment for breast cancer. A diagnostic genetic test in this older sister shows that she has a mutation in a gene that causes a very high lifetime risk of breast cancer (up to 80%). Thus, it is possible to do an accurate predictive test on Ruth to see whether or not she has inherited this mutation from her mother. After appropriate counselling, a test is done and the result is positive. During counselling after the test, Ruth says that about a year previously she donated eggs to a private fertility clinic. Ruth does not give permission for the counsellor to contact the clinic because she is afraid of getting into trouble.
Jenny’s 3-year-old son has been diagnosed with muscular dystrophy—a genetic disorder that affects boys and for which females are asymptomatic carriers. A blood test on Jenny shows her to be a carrier of the gene. She has two sisters, one of whom is presently trying to conceive. Jenny is adamant that she does not want her sister to know she too may be a carrier (there is a 50% chance that she is) and that she is at risk of having an affected son. She says she knows her sister would terminate her pregnancy if results of a prenatal test showed that her child was affected, and she feels that this outcome would be very wrong.
accepted practice between different clinical genetics centres,10 and on development of guidance on specific issues, such as paternity testing,11 confidentiality,12 and genetic testing of children.13 The Royal College of Physicians 14 and the Nuffield Council of Bioethics15 have each published more wide-ranging reports and recommendations on ethical issues raised by genetics and genetic testing. But there is presently little clinically focused guidance available16 other than in situations in which practice is governed by professional guidelines of a more generic kind—eg, the General Medical Council’s Duties of a Doctor.17 By contrast, in Australia, guidance has been developed by the National Health and Medical Research Council covering a wide range of issues such as consent, confidentiality and privacy, storage of information, disclosure, etc.6
Strengths and weaknesses of management guidelines Guidelines, whether developed by governmental advisory committees or professional organisations, are an important part of the regulatory context within which clinical genetics is practised. But they cannot be the whole story. For, although perhaps they provide a shared framework of principles for thinking about difficult decisions, they can offer in themselves only limited answers to practical ethical
Panel 2: Case two A woman and her brother, both in their early 20s, approach their family doctor about the possibility of a predictive test for Huntington’s disease. Their maternal grandfather had the disease and they would like to find out whether they are going to develop symptoms later in life. They have discussed the possibility of a test, have thought about it very carefully, and have decided to come together for counselling and predictive testing. During counselling it becomes apparent that they have also discussed the possibility of testing with their mother, and she has told them she is very anxious about the possibility that she has the disorder, and does not want to know her status. She says it is better not to know. This factor complicates matters, because any positive test result for her son or daughter would show her too to have the mutation.
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difficulties facing clinicians on a day-to-day basis. Such guidelines, by their very nature, need further ethical interpretation and analysis in view of specifics of any particular case under consideration. Consider, for example, the question of confidentiality in genetic testing and when, if ever, it is right to breach a patient’s confidentiality to share genetic information with other people. This question can arise in a range of different ways in clinical genetics (panels 1–3), and can become apparent as a difficulty either before or after a test has been done. The question of when and when not to breach confidentiality has been addressed in the law and professional guidance of many countries, including Australia, France, the Netherlands, Norway, Switzerland, the USA, and the UK, among others. In some countries the law has clearly delineated what it judges to be right and wrong practice. For example, French legislation expressly prohibits direct disclosure of genetic information to another individual,18 yet in many other countries, including Australia, the Netherlands, the USA, and the UK, it has been decided that although respect for confidentiality is central to ethical medicine, it is permissible, and indeed ethical in certain limited circumstances, to breach such confidentiality—eg, when disclosure will avoid serious harm to identifiable others. In the USA, the American Society of Human Genetics, in its report on the professional disclosure of familial genetic information,9 argued that although, in general, genetic information, like all medical information, should be “protected by the legal and ethical principle of confidentiality that exists within the patient-physician relationship”, disclosure is permissible when the patient has refused disclosure, and when “harm is likely to occur and is serious, imminent and foreseeable”. In the UK, guidance from the General Medical Council is that disclosure of personal information (not necessarily genetic) without consent might be justified “where the failure to do so may expose the patient or others to risk of death or serious harm”.17 In the Netherlands too, criteria by which disclosure is to be judged acceptable are that risk of harm should be serious, real, and imminent, and that there should be the possibility of an effective intervention.19 The difficulty for clinical geneticists and counsellors here is obvious.9 Serious harm “defies exact definition and must be determined on an ad-hoc basis”.20 This decision of course is one with fundamental and profound moral and social implications not addressed by guidance. The importance of these questions in clinical genetics seems unlikely to diminish in the future, with increasing availability of genetic testing and consequent rising numbers of inter-related family histories of which health professionals are likely to become aware.
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DEPARTMENT OF ETHICS
Management of clinical ethics support The issue of confidentiality is only one example of ways in which guidelines are of limited, if still important, use in the clinical setting. Although guidance can usually set out terms within which any acceptable resolution of a particular difficulty is to be made, its actual resolution is, in most cases, going to be a matter for the clinician and his or her patient. Just as it is appropriate for many ethical decisions in clinical genetics to be made as a matter of public policy, it is also appropriate for others to be left to the judgment of clinicians, families, and individuals. Nevertheless, this should not be taken to mean that there is nothing more to be said about management of genetic testing in clinical practice. Just as the quality of decisions made in day-to-day clinical practice cannot be guaranteed by guidelines alone, neither can it be guaranteed by leaving such judgments to clinicians, clients and families without adequate support or training. Thus, there is an important role for national advisory committees, states, and professional organisations, in specification of the principles that ought to guide the process of decision-making, and in recommendation of types of support, education, and training to which such clinicians should have access if they are to be able to make good quality, ethical judgments when faced with difficult decisions. Each of these is a key element in the effective management of genetic testing in day-to-day clinical practice. A similar call for increased emphasis on process was made recently by Norman Daniels,21 when he argued that priority should be given to development of a fair process in health-care ethics. Daniels claims that this approach is more likely to be successful (and useful) than agreement on a set of principles, and suggests that a fair process would be one in which there was “transparency about the grounds of the decisions; appeal to rationales that all can accept as relevant to meet health needs fairly; and procedures for revising decisions in the light of challenges to them”. Much of the infrastructure for development and provision of support for such a process is already either in existence or under development in many countries.22 In the USA, clinical (or hospital) ethics committees have been in existence since the beginning of the 1970s, and such committees are also becoming more frequent in other countries. In the UK, a national network of clinical ethics committees has been established, and a national review of clinical ethics support in the UK funded by the Nuffield Trust reported on continuing development of such committees across the country.22 In other countries too, such as Australia, Belgium, France, Germany, the Netherlands, and Spain, clinical ethics committees and other forms of support are being developed. Clinical ethics committees are of course not an answer in their own right, and development of fair process will have to be pursued at many levels of policy-making and clinical practice. What is needed in addition to policy and guidance, if this aspiration is to be realised, is clinical ethics support that is fully integrated into dayto-day work, decision-making, and staff development of the clinical genetics team, and this support cannot be provided by a committee alone. Nevertheless, these committees can act as a useful focus for development of appropriate and effective local ethics support and education in clinical genetics. In view of this fact, it is especially important that control in the clinical setting is not confused with regulation, and that the role of clinical ethics committees and other clinical ethics
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support is indeed seen to be supportive by clinical geneticists, counsellors, and their clients.
Conclusion Despite development of clinical ethics support of various kinds over the past three decades or so, there has as yet been no systematic assessment of effectiveness of different models of clinical ethics support. This appraisal is, of course, important in health care generally, and would certainly be a useful initial step towards effective ethical management of day-to-day genetic testing in particular. Any such assessment will have to consider many questions. What kinds of ethics support and training would clinical geneticists find useful? How is it possible to ensure adequate clinical ethics support to clinical geneticists working in geographical areas away from the main centres where most current support is concentrated? What is the most effective model of ethics support in clinical genetics? What are the ethics training needs of clinical geneticists? What qualities, skills, and qualifications should an individual have to count as an ethicist in this setting? The people who spoke at the SACGT public meeting were right to argue that control of genetic testing should pay particular attention to decision-making in the dayto-day practice of clinical genetics. Development of guidelines on difficult issues, or establishment of more ethics committees, will not be enough, though each of these factors might help under certain circumstances. What is needed is specification of the types of clinical ethics support and education needed by clinical geneticists, counsellors, and patients to help them to resolve the difficult decisions which they have to deal with daily. However, the fact that these considerations were prompted by public input is indicative of the value of public reason and deliberation in management of health-care practice. Public involvement and consultation should have an important role in any recommendations on, and assessment of, overseeing of genetic testing. Contributors This report was written by both authors. M Parker did the initial research and wrote the first version. Revisions were made by A Lucassen. Final editing and submission was done by M Parker.
Conflict of interest statement None declared.
References 1
2
3
4
5
6
SACGT. Enhancing the oversight of genetic tests: recommendations of the Secretary’s advisory committee on genetic testing. Bethesda: National Institutes of Health, 2000. Available at http://www4.od.nih.gov/oba/sacgt.htm (accessed April 26, 2001). Human Embryology and Fertilisation Authority and Advisory Committee on Genetic Testing. Joint Public Consultation on Preimplantation diagnosis. London: Human Embryology and Fertilisation Authority, 1999. Available at http://www.hfea.gov.uk/ (accessed April 26, 2001). The Nuffield Council on Bioethics. Genetics and human behaviour: the ethical context. London: The Nuffield Council on Bioethics, 2001. Available at http://www.nuffieldbioethics.org/home/index.asp (accessed April 26, 2001). Human Genetics Commission. Whose Hands on Your Genes? A discussion document on the storage, protection and use of genetic information. London: Human Genetics Commission, 2000. Available at http://www.hgc.gov.uk (accessed April 26, 2001). Human Genetics Commission. Inside information: balancing interests in the use of personal genetic data. London: Human Genetics Commission, 2002. National Health and Medical Research Council. Ethical aspects of human genetic testing: an information paper. Canberra: Commonwealth of Australia, 2000. Available at http://www.health.gov.au/nhmrc/publications/synopses/e39syn.htm (accessed April 26, 2001).
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DEPARTMENT OF ETHICS
7 8 9
10 11
12
13
14
Parker M. Public reason and private choice in genetics and reproduction. J Med Ethics 2000; 26: 3. National Society of Genetic Counselors. Code of ethics. Available at http://www.nsgc.org/about_code.asp (accessed April 26, 2001). Knoppers BM, Strom C, Wright Clayton E, et al. Professional disclosure of familial genetic information. Am J Hum Genet 1998; 62: 474–83. Donnai D, Elles R. Integrated regional genetics services: current and future provision. BMJ 2001; 322: 1048–51. Department of Health. Code of practice and guidance on genetic paternity testing services. London: Department of Health, 2001. Available at http://www.doh.gov.uk/genetics/paternity.htm (accessed April 26, 2001). Genetic Interest Group. Confidentiality and medical genetics. London: Genetic Interest Group, 1998. Available at http:// www.gig.org.uk/policy.htm (accessed June 21, 2002). Clarke A. The genetic testing of children: working party of the Clinical Genetics Society (UK). J Med Genet 1994; 31: 785–97. Royal College of Physicians. Clinical genetics services into the 21st century. London: Royal College of Physicians, 1996.
15 Nuffield Council on Bioethics. Genetic screening: ethical issues. London: Nuffield Council on Bioethics, 1993. 16 Lucassen A, Houlston R. Clinical geneticists’ attitudes and practice towards testing for breast cancer susceptibility genes. J Med Genet 2000; 37: 157–60. 17 General Medical Council. Confidentiality: protecting and providing information—duties of a doctor. London: General Medical Council, 2002. 18 Julian-Reynier C, Eisinger F, Chabal F, et al. Disclosure to the family of breast/ovarian cancer genetic test results: patient’s willingness and associated factors. Am J Med Genet 2000; 94: 13–18. 19 Committee of the Health Council of the Netherlands. Heredity: science and society. The Hague: HCN, 1989. 20 Knoppers BM, Wertz DC, Chadwick R, Penchaszadeh VB, LeBris S. Defining ‘serious’ disorders in relation to genetics services: who should decide? Am J Hum Genet 1995; 57 (suppl): A296. 21 Daniels N. Accounting for reasonableness. BMJ 2000; 321: 1300–01. 22 Slowther A, Bunch C, Woolnough B, Hope T. Clinical ethics support in the UK: a review of the current position and likely development. London: The Nuffield Trust, 2001.
Uses of error An error rationalised is still a mistake A M Di Bisceglie Clearly, all doctors make mistakes. Most are minor and they should occur less frequently as we gain experience. The question is—how do we deal with, and react to, our mistakes? I see three possible options. Firstly, mistakes may be dismissed or blamed on others. This is clearly the path to more mistakes. Next, mistakes may be dwelled upon and over analysed so as to result in paralysis of the doctor. Most of us choose the third option, which is to analyse the mistake, learn from it, and move on. It is very tempting, however, to justify or rationalise an error as a way of not taking responsibility. I can recall two mistakes that could easily have been rationalised away. The first was very soon after graduating from medical school when I was on call by myself one night in the hospital. I was asked to see an elderly man with prostate cancer who had developed pulmonary oedema following a blood transfusion. I prescribed an appropriate dose of furosemide but erred in giving him 10 mg of morphine intravenously. I spent the next few hours anxiously monitoring his breathing. I was certain that 10 mg was the dose suggested in Harrison’s Textbook of Internal Medicine for the treatment of pulmonary oedema, so I checked the next day—and indeed it was. So I could have dismissed this as a mistake by the author of that chapter, not my error. But I learned a valuable lesson about tailoring a treatment to the patient. The next instance was just a few years later when I was a senior house officer in ear, nose, and throat surgery and I was called at night to see an elderly woman in hospital
because she was confused, combative and agitated. She had carcinoma of the maxillary sinus which had recurred after antrectomy and the tumour was proving resistant to radiation therapy. One could visibly see the cancer growing from day to day as the maxillary sinus was totally exposed. I prescribed a large dose of promethazine and chlorpromazine intravenously for her confusion. The patient not only quietened down but became hypotensive and died within a few hours. Even though I had adjusted the doses of these drugs which I had been taught to use to calm violent patients with mental illness or drug intoxication, the amount I had given was just too much for a weakened old lady. The easy justification here was that this was a terminally ill patient who would have died soon anyway. Her life seemed so miserable that one could say that I might have done her and her family a favour. Yet, I have thought often over the years about the fact that my error did not really come to light. Yes, I talked about it but there was no reprimand, no angry family to deal with, no close examination of the circumstances of the patient’s death. I have seen or been involved with other patients where the same rationalisation was used: “The patient was too sick”, “The patient was going to die anyway”, “There was no other choice”. While these might all be true, an error that can be rationalised is still a mistake. We must learn from these mistakes to prevent them from happening the next time when the patient is not too sick and the patient is not about to die.
Division of Gastroenterology and Hepatology, Department of Internal Medicine, St Louis University School of Medicine, 3635 Vista Avenue, St Louis, MO63110, USA (A M DiBisceglie MD)
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Department of ethics
Working towards ethical management of genetic testing Michael Parker, Anneke Lucassen Developments in genetic testing and increased public awareness of inherited disease have led to increasing interest in and concern about the ethical issues raised by clinical genetics. We looked at methods for ethical management of genetic testing, and investigated the advantages and limitations of use of ethical guidelines in clinical genetics. We believe that a key element in successful management of genetic testing in addition to guidelines will be availability of ethics training and support for geneticists, nurses, and counsellors. Clinical ethics committees and clinical ethicists can act as a useful focus for such training and advice if their role is seen to be genuinely supportive by health professionals and patients. We also argue that increased public involvement at the national level in policy debate about control of genetic testing is needed. In 1998, Donna Shalala, the then US Secretary of Health and Human Services, chartered the Secretary’s advisory committee on genetic testing (SACGT) in response to recommendations of two working groups, which had been commissioned jointly by the US National Institutes of Health and the US Department of Energy—the task force on genetic testing; and the committee to evaluate the ethical, legal, and social implications programme of the human genome project. SACGT describes its role as that of helping the nation to “prepare for some of the revolutionary changes in clinical and public-health practice resulting from the continued and increasing use of genetic testing”. In June, 1999, the committee was invited to assess adequacy of management of genetic tests in the USA and to make recommendations, in view of public consultation, to the Secretary for additional control if necessary. The outcome of SACGT’s assessment was publication, in 2000, of Enhancing the Oversight of Genetic Tests.1 As requested by the Secretary, members of the public had an important role in this assessment. More than 400 groups and individuals contributed to the deliberations of the committee, including 250 people who attended a public consultation in January, 2000, and this contribution is an example of increased international interest in the role of the public in development of health policy. In the UK for example, the Human Fertilisation and Embryology Authority2 and the Nuffield Council on Bioethics3 have each held public consultations on important ethical issues in genetics. Furthermore, the Human Genetics Commission commissioned a MORI (marketing and opinion research international) poll, in which they asked the public for their opinion on various genetic issues, and they launched a detailed consultation document, entitled Whose Hands on Your Genes?4 This report received 250 responses from the public and professional organisations, and a report to the UK Government taking these responses into account was published in May, 2002.5 In Australia too, the Australian Health Ethics Committee carried out public consultation Lancet 2002; 360: 1685–88 Ethox Centre, Institute of Health Sciences, University of Oxford, Oxford OX3 7LF, UK (M Parker PhD); and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton (A Lucassen MRCP) Correspondence to: Dr Michael Parker (e-mail: [email protected])
THE LANCET • Vol 360 • November 23, 2002 • www.thelancet.com
while they prepared the National Health and Medical Research Council report on ethical aspects of genetic testing.6
Need for control of clinical practice Public participation in development of health policy is a good thing for various reasons.7 For example, people who are not health professionals can provide important insights because they see implications of health-care decisions from the view of the actual or potential service user. SACGT reported that one of the concerns of people who attended the public meeting in January, 2000, was that the committee was interpreting its remit too narrowly.1 SACGT deliberations focused mainly on four questions: the manner in which genetic tests are introduced into clinical practice; adequacy and appropriate regulation of laboratory quality assurance; degree of understanding of genetics by health-care providers, patients, and the public; and continued availability and quality of testing for rare diseases. As a result, the report contained little about management of actual use of such tests in day-to-day practice of clinical genetics, and people present at the public meeting felt that this absence overlooked a key element in control of genetic testing. The committee chose not to interpret its brief more broadly in response to these comments, but it did argue that “additional oversight of genetic tests should occur through a continuous review of standards of care and practice by the clinical community”,1 and it envisaged a continuing and perhaps enhanced role in the setting of standards and development of guidelines in clinical genetics for other bodies, such as professional organisations and patients’ advocacy groups, and individuals and families affected with a genetic disorders. Although some US states (such as New York and California) have regulations that go beyond federal ones, it is at the level of the professional organisation that most of the important guidance for day-to-day management of clinical genetics is to be found. This support includes guidelines produced by the National Society of Genetic Counselors,8 the American College of Medical Genetics (http://www.acmg.net/), and the American Society of Human Genetics,9 among others. In the UK, there has been less emphasis on comprehensive recommendations and guidelines in clinical genetics and more on expansion of regional and national networks for discussion and accomplishment of 1685
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DEPARTMENT OF ETHICS
Panel 1: Case one
Panel 3: Case three
Ruth is a young woman in her mid 20s, who makes contact with her local clinical genetics unit because she wants to have a predictive test for breast cancer. There is a strong history of breast and ovarian cancer in her family—her mother, her grandmother, and her aunt all died of the disease at a young age. She also has an older sister who is presently undergoing treatment for breast cancer. A diagnostic genetic test in this older sister shows that she has a mutation in a gene that causes a very high lifetime risk of breast cancer (up to 80%). Thus, it is possible to do an accurate predictive test on Ruth to see whether or not she has inherited this mutation from her mother. After appropriate counselling, a test is done and the result is positive. During counselling after the test, Ruth says that about a year previously she donated eggs to a private fertility clinic. Ruth does not give permission for the counsellor to contact the clinic because she is afraid of getting into trouble.
Jenny’s 3-year-old son has been diagnosed with muscular dystrophy—a genetic disorder that affects boys and for which females are asymptomatic carriers. A blood test on Jenny shows her to be a carrier of the gene. She has two sisters, one of whom is presently trying to conceive. Jenny is adamant that she does not want her sister to know she too may be a carrier (there is a 50% chance that she is) and that she is at risk of having an affected son. She says she knows her sister would terminate her pregnancy if results of a prenatal test showed that her child was affected, and she feels that this outcome would be very wrong.
accepted practice between different clinical genetics centres,10 and on development of guidance on specific issues, such as paternity testing,11 confidentiality,12 and genetic testing of children.13 The Royal College of Physicians 14 and the Nuffield Council of Bioethics15 have each published more wide-ranging reports and recommendations on ethical issues raised by genetics and genetic testing. But there is presently little clinically focused guidance available16 other than in situations in which practice is governed by professional guidelines of a more generic kind—eg, the General Medical Council’s Duties of a Doctor.17 By contrast, in Australia, guidance has been developed by the National Health and Medical Research Council covering a wide range of issues such as consent, confidentiality and privacy, storage of information, disclosure, etc.6
Strengths and weaknesses of management guidelines Guidelines, whether developed by governmental advisory committees or professional organisations, are an important part of the regulatory context within which clinical genetics is practised. But they cannot be the whole story. For, although perhaps they provide a shared framework of principles for thinking about difficult decisions, they can offer in themselves only limited answers to practical ethical
Panel 2: Case two A woman and her brother, both in their early 20s, approach their family doctor about the possibility of a predictive test for Huntington’s disease. Their maternal grandfather had the disease and they would like to find out whether they are going to develop symptoms later in life. They have discussed the possibility of a test, have thought about it very carefully, and have decided to come together for counselling and predictive testing. During counselling it becomes apparent that they have also discussed the possibility of testing with their mother, and she has told them she is very anxious about the possibility that she has the disorder, and does not want to know her status. She says it is better not to know. This factor complicates matters, because any positive test result for her son or daughter would show her too to have the mutation.
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difficulties facing clinicians on a day-to-day basis. Such guidelines, by their very nature, need further ethical interpretation and analysis in view of specifics of any particular case under consideration. Consider, for example, the question of confidentiality in genetic testing and when, if ever, it is right to breach a patient’s confidentiality to share genetic information with other people. This question can arise in a range of different ways in clinical genetics (panels 1–3), and can become apparent as a difficulty either before or after a test has been done. The question of when and when not to breach confidentiality has been addressed in the law and professional guidance of many countries, including Australia, France, the Netherlands, Norway, Switzerland, the USA, and the UK, among others. In some countries the law has clearly delineated what it judges to be right and wrong practice. For example, French legislation expressly prohibits direct disclosure of genetic information to another individual,18 yet in many other countries, including Australia, the Netherlands, the USA, and the UK, it has been decided that although respect for confidentiality is central to ethical medicine, it is permissible, and indeed ethical in certain limited circumstances, to breach such confidentiality—eg, when disclosure will avoid serious harm to identifiable others. In the USA, the American Society of Human Genetics, in its report on the professional disclosure of familial genetic information,9 argued that although, in general, genetic information, like all medical information, should be “protected by the legal and ethical principle of confidentiality that exists within the patient-physician relationship”, disclosure is permissible when the patient has refused disclosure, and when “harm is likely to occur and is serious, imminent and foreseeable”. In the UK, guidance from the General Medical Council is that disclosure of personal information (not necessarily genetic) without consent might be justified “where the failure to do so may expose the patient or others to risk of death or serious harm”.17 In the Netherlands too, criteria by which disclosure is to be judged acceptable are that risk of harm should be serious, real, and imminent, and that there should be the possibility of an effective intervention.19 The difficulty for clinical geneticists and counsellors here is obvious.9 Serious harm “defies exact definition and must be determined on an ad-hoc basis”.20 This decision of course is one with fundamental and profound moral and social implications not addressed by guidance. The importance of these questions in clinical genetics seems unlikely to diminish in the future, with increasing availability of genetic testing and consequent rising numbers of inter-related family histories of which health professionals are likely to become aware.
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DEPARTMENT OF ETHICS
Management of clinical ethics support The issue of confidentiality is only one example of ways in which guidelines are of limited, if still important, use in the clinical setting. Although guidance can usually set out terms within which any acceptable resolution of a particular difficulty is to be made, its actual resolution is, in most cases, going to be a matter for the clinician and his or her patient. Just as it is appropriate for many ethical decisions in clinical genetics to be made as a matter of public policy, it is also appropriate for others to be left to the judgment of clinicians, families, and individuals. Nevertheless, this should not be taken to mean that there is nothing more to be said about management of genetic testing in clinical practice. Just as the quality of decisions made in day-to-day clinical practice cannot be guaranteed by guidelines alone, neither can it be guaranteed by leaving such judgments to clinicians, clients and families without adequate support or training. Thus, there is an important role for national advisory committees, states, and professional organisations, in specification of the principles that ought to guide the process of decision-making, and in recommendation of types of support, education, and training to which such clinicians should have access if they are to be able to make good quality, ethical judgments when faced with difficult decisions. Each of these is a key element in the effective management of genetic testing in day-to-day clinical practice. A similar call for increased emphasis on process was made recently by Norman Daniels,21 when he argued that priority should be given to development of a fair process in health-care ethics. Daniels claims that this approach is more likely to be successful (and useful) than agreement on a set of principles, and suggests that a fair process would be one in which there was “transparency about the grounds of the decisions; appeal to rationales that all can accept as relevant to meet health needs fairly; and procedures for revising decisions in the light of challenges to them”. Much of the infrastructure for development and provision of support for such a process is already either in existence or under development in many countries.22 In the USA, clinical (or hospital) ethics committees have been in existence since the beginning of the 1970s, and such committees are also becoming more frequent in other countries. In the UK, a national network of clinical ethics committees has been established, and a national review of clinical ethics support in the UK funded by the Nuffield Trust reported on continuing development of such committees across the country.22 In other countries too, such as Australia, Belgium, France, Germany, the Netherlands, and Spain, clinical ethics committees and other forms of support are being developed. Clinical ethics committees are of course not an answer in their own right, and development of fair process will have to be pursued at many levels of policy-making and clinical practice. What is needed in addition to policy and guidance, if this aspiration is to be realised, is clinical ethics support that is fully integrated into dayto-day work, decision-making, and staff development of the clinical genetics team, and this support cannot be provided by a committee alone. Nevertheless, these committees can act as a useful focus for development of appropriate and effective local ethics support and education in clinical genetics. In view of this fact, it is especially important that control in the clinical setting is not confused with regulation, and that the role of clinical ethics committees and other clinical ethics
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support is indeed seen to be supportive by clinical geneticists, counsellors, and their clients.
Conclusion Despite development of clinical ethics support of various kinds over the past three decades or so, there has as yet been no systematic assessment of effectiveness of different models of clinical ethics support. This appraisal is, of course, important in health care generally, and would certainly be a useful initial step towards effective ethical management of day-to-day genetic testing in particular. Any such assessment will have to consider many questions. What kinds of ethics support and training would clinical geneticists find useful? How is it possible to ensure adequate clinical ethics support to clinical geneticists working in geographical areas away from the main centres where most current support is concentrated? What is the most effective model of ethics support in clinical genetics? What are the ethics training needs of clinical geneticists? What qualities, skills, and qualifications should an individual have to count as an ethicist in this setting? The people who spoke at the SACGT public meeting were right to argue that control of genetic testing should pay particular attention to decision-making in the dayto-day practice of clinical genetics. Development of guidelines on difficult issues, or establishment of more ethics committees, will not be enough, though each of these factors might help under certain circumstances. What is needed is specification of the types of clinical ethics support and education needed by clinical geneticists, counsellors, and patients to help them to resolve the difficult decisions which they have to deal with daily. However, the fact that these considerations were prompted by public input is indicative of the value of public reason and deliberation in management of health-care practice. Public involvement and consultation should have an important role in any recommendations on, and assessment of, overseeing of genetic testing. Contributors This report was written by both authors. M Parker did the initial research and wrote the first version. Revisions were made by A Lucassen. Final editing and submission was done by M Parker.
Conflict of interest statement None declared.
References 1
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SACGT. Enhancing the oversight of genetic tests: recommendations of the Secretary’s advisory committee on genetic testing. Bethesda: National Institutes of Health, 2000. Available at http://www4.od.nih.gov/oba/sacgt.htm (accessed April 26, 2001). Human Embryology and Fertilisation Authority and Advisory Committee on Genetic Testing. Joint Public Consultation on Preimplantation diagnosis. London: Human Embryology and Fertilisation Authority, 1999. Available at http://www.hfea.gov.uk/ (accessed April 26, 2001). The Nuffield Council on Bioethics. Genetics and human behaviour: the ethical context. London: The Nuffield Council on Bioethics, 2001. Available at http://www.nuffieldbioethics.org/home/index.asp (accessed April 26, 2001). Human Genetics Commission. Whose Hands on Your Genes? A discussion document on the storage, protection and use of genetic information. London: Human Genetics Commission, 2000. Available at http://www.hgc.gov.uk (accessed April 26, 2001). Human Genetics Commission. Inside information: balancing interests in the use of personal genetic data. London: Human Genetics Commission, 2002. National Health and Medical Research Council. Ethical aspects of human genetic testing: an information paper. Canberra: Commonwealth of Australia, 2000. Available at http://www.health.gov.au/nhmrc/publications/synopses/e39syn.htm (accessed April 26, 2001).
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Parker M. Public reason and private choice in genetics and reproduction. J Med Ethics 2000; 26: 3. National Society of Genetic Counselors. Code of ethics. Available at http://www.nsgc.org/about_code.asp (accessed April 26, 2001). Knoppers BM, Strom C, Wright Clayton E, et al. Professional disclosure of familial genetic information. Am J Hum Genet 1998; 62: 474–83. Donnai D, Elles R. Integrated regional genetics services: current and future provision. BMJ 2001; 322: 1048–51. Department of Health. Code of practice and guidance on genetic paternity testing services. London: Department of Health, 2001. Available at http://www.doh.gov.uk/genetics/paternity.htm (accessed April 26, 2001). Genetic Interest Group. Confidentiality and medical genetics. London: Genetic Interest Group, 1998. Available at http:// www.gig.org.uk/policy.htm (accessed June 21, 2002). Clarke A. The genetic testing of children: working party of the Clinical Genetics Society (UK). J Med Genet 1994; 31: 785–97. Royal College of Physicians. Clinical genetics services into the 21st century. London: Royal College of Physicians, 1996.
15 Nuffield Council on Bioethics. Genetic screening: ethical issues. London: Nuffield Council on Bioethics, 1993. 16 Lucassen A, Houlston R. Clinical geneticists’ attitudes and practice towards testing for breast cancer susceptibility genes. J Med Genet 2000; 37: 157–60. 17 General Medical Council. Confidentiality: protecting and providing information—duties of a doctor. London: General Medical Council, 2002. 18 Julian-Reynier C, Eisinger F, Chabal F, et al. Disclosure to the family of breast/ovarian cancer genetic test results: patient’s willingness and associated factors. Am J Med Genet 2000; 94: 13–18. 19 Committee of the Health Council of the Netherlands. Heredity: science and society. The Hague: HCN, 1989. 20 Knoppers BM, Wertz DC, Chadwick R, Penchaszadeh VB, LeBris S. Defining ‘serious’ disorders in relation to genetics services: who should decide? Am J Hum Genet 1995; 57 (suppl): A296. 21 Daniels N. Accounting for reasonableness. BMJ 2000; 321: 1300–01. 22 Slowther A, Bunch C, Woolnough B, Hope T. Clinical ethics support in the UK: a review of the current position and likely development. London: The Nuffield Trust, 2001.
Uses of error An error rationalised is still a mistake A M Di Bisceglie Clearly, all doctors make mistakes. Most are minor and they should occur less frequently as we gain experience. The question is—how do we deal with, and react to, our mistakes? I see three possible options. Firstly, mistakes may be dismissed or blamed on others. This is clearly the path to more mistakes. Next, mistakes may be dwelled upon and over analysed so as to result in paralysis of the doctor. Most of us choose the third option, which is to analyse the mistake, learn from it, and move on. It is very tempting, however, to justify or rationalise an error as a way of not taking responsibility. I can recall two mistakes that could easily have been rationalised away. The first was very soon after graduating from medical school when I was on call by myself one night in the hospital. I was asked to see an elderly man with prostate cancer who had developed pulmonary oedema following a blood transfusion. I prescribed an appropriate dose of furosemide but erred in giving him 10 mg of morphine intravenously. I spent the next few hours anxiously monitoring his breathing. I was certain that 10 mg was the dose suggested in Harrison’s Textbook of Internal Medicine for the treatment of pulmonary oedema, so I checked the next day—and indeed it was. So I could have dismissed this as a mistake by the author of that chapter, not my error. But I learned a valuable lesson about tailoring a treatment to the patient. The next instance was just a few years later when I was a senior house officer in ear, nose, and throat surgery and I was called at night to see an elderly woman in hospital
because she was confused, combative and agitated. She had carcinoma of the maxillary sinus which had recurred after antrectomy and the tumour was proving resistant to radiation therapy. One could visibly see the cancer growing from day to day as the maxillary sinus was totally exposed. I prescribed a large dose of promethazine and chlorpromazine intravenously for her confusion. The patient not only quietened down but became hypotensive and died within a few hours. Even though I had adjusted the doses of these drugs which I had been taught to use to calm violent patients with mental illness or drug intoxication, the amount I had given was just too much for a weakened old lady. The easy justification here was that this was a terminally ill patient who would have died soon anyway. Her life seemed so miserable that one could say that I might have done her and her family a favour. Yet, I have thought often over the years about the fact that my error did not really come to light. Yes, I talked about it but there was no reprimand, no angry family to deal with, no close examination of the circumstances of the patient’s death. I have seen or been involved with other patients where the same rationalisation was used: “The patient was too sick”, “The patient was going to die anyway”, “There was no other choice”. While these might all be true, an error that can be rationalised is still a mistake. We must learn from these mistakes to prevent them from happening the next time when the patient is not too sick and the patient is not about to die.
Division of Gastroenterology and Hepatology, Department of Internal Medicine, St Louis University School of Medicine, 3635 Vista Avenue, St Louis, MO63110, USA (A M DiBisceglie MD)
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