1524
Non-directive
genetic counselling
SIR,-My Oct 19 article prompted five letters in your issue of Nov 16 (pp 1266-68). Both Dr Super and Professor Pembrey are based in children’s hospitals: I wonder if our experiences of clinical genetics differ for that reason. Perhaps they see only families in which children are affected by severe conditions, whereas Dr Morrison and Professor Nevin and I see families anxious to know that selective termination of pregnancy would be available for fetuses affected by milder or even by medically trivial disorders. Perhaps Super does not himself see the Turner syndrome fetuses terminated after an inadvertent diagnosis at amniocentesis, whereas departments with fetal pathology laboratories will do so. The decision to terminate a Turner syndrome pregnancy is heavily influenced by the specialty of the doctor who discusses the issues with the family, the rate of termination being much lower after discussion with a clinical geneticist than an obstetrician.1,2 I thank Super for his support of my view that clinical geneticists should retain a role in the day-to-day care of patients with genetic disorders and Morrison and Nevin for their backing for my view that prenatal testing and selective terminations of pregnancy may be ethically undesirable for many disorders that can (technically) be diagnosed. I have also been heartened by support from other genetics colleagues who wish to move beyond the 1980s consumerism model of clinical genetics. There is a real tension between wanting to provide the maximum of information and of reproductive choice to pregnant women and the concern and respect that we show towards those members of our society who are affected by genetic and congenital disorders. The "can do, will do" approach to prenatal diagnosis is blind to social consequences and needs reassessment.
Pembrey reminds me that there is already a consensus amongst clinical geneticists that "reduction of the birth incidence of genetic disorders is not the object of genetic services". Sadly, such statements from senior members of the profession are not enough: their wishing does not make it so. Those health professionals (often not clinical geneticists) who wish to adopt a public health perspective to justify our existence through a cost-benefit analysis will be quite capable of learning to preface their remarks by explicit, but purely cosmetic, disavowals of eugenic intent. It is often these cost-benefit considerations, with crude reckoning of cash saved per termination achieved, that speak loudest to health authorities. The Royal College of Physicians’ report3 is one example of a superficially anti-eugenic preface followed by a clear "genetic hygiene" approach to inherited disease, with an emphasis on the fall in incidence of costly disorders that is bound to appeal to those with an accountant’s turn
of mind.
Decision-making by many women and couples, especially during a pregnancy, is not the operation of pure reason but is heavily influenced by many factors. The implicit recommendation to accept a prenatal diagnostic or screening test-which is how many will react to any such suggestion or offer made by doctor or
Mrs Simms seems to think that I am totally opposed to the legal for termination of pregnancy. What concerns me is the selective termination of pregnancies on the basis of judgments made about what types of people are worthy of life: what account is taken of the respect due to affected individuals by society at large? Her other point is that I did not refer to the strain of long-term care of handicapped children. She sees these socially imposed difficulties as immutable but the biologically determined abnormalities as preventable.4 I would argue that the bitterness felt by the inadequately supported parents of children with handicaps would be better directed against a society that regards the care of such individuals as a private matter rather than a social responsibility laid upon us all, and that chooses to consume resources in other ways. This argument is also relevant to no-fault compensation for victims of medical accidents: such compensation would mean very little if proper provision were made for those in need.
provision
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK
ANGUS CLARKE
M, Ryyvanen M, Lindenbaum RH. Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat Diagn 1987; 7: 239-44. 2. Robinson R, Bender BG, Linden MG. Decisions following the intrauterine diagnosis of sex chromosome aneuploidy. Am J Med Genet 1989; 34: 552-54. 3. Royal College of Physicians’ Working Party. Prenatal diagnosis and genetic screening: community and service implications. London: RCP, 1989. 4. Lippmann A. Prenatal genetic testing and screening: constructing needs and reinforcing inequities. Am J Law Med 1991; 17: 15-50. 1. Holmes-Seidle
Screening for cystic fibrosis SIR,-Professor Wald (Nov 23, p 1318) remarks that, despite improvements in outlook, the expectation of life for patients with cystic fibrosis (CF) is still less than 25 years. This is unduly pessimistic. Survival with CF has improved in recent years and life expectancy in those with CF is highly dependent on year of birth. Mortality experience, therefore, underestimates the likely life expectancy of babies with CF born today. Patients dying from CF in 1991 at age 25 were born at a time when median survival was about 5 years. For CF babies bom today life expectancy is nearer 40.1 Prenatal screening and diagnosis is valuable to parents who have decided that they would not wish to proceed with a pregnancy affected by CF. The parental decision to proceed with screening should, however, be made on the basis of the most accurate and up-to-date information. Today’s parents should be told that most of those with CF diagnosed by prenatal screening would probably live well into middle age. Respiratory Medicine Unit, City Hospital, Nottingham NG5 1PB, UK
J. BRITTON J. KNOX
A.
1. Elborn JS, Shale DJ, Britton JR. Cystic fibrosis: current survival and estimates to the year 2000. Thorax 1991; 46: 881-85.
population
midwife-will affect many decisions. I agree with Harris and Hopkins about the need for the development of medical genetics services and of the genetics education of colleagues in other specialties. However, they are wrong to suggest that I would withhold information from patients at risk of genetic disorders. This misinterpretation leads them to dismiss the question of whether society should limit the range of disorders for which prenatal diagnosis and the selective termination of pregnancies is available. They also discuss the Royal College of Physicians’ "confidential inquiry" and the open forum at which that project was discussed. I did indeed support the principle of an educational initiative, having been assured that the plans would be modified to encompass the prevention of complications of inherited disorders (eg, bowel cancer in familial adenomatous polyposis) besides offers of prenatal diagnosis. However, I also expressed strong misgivings about modelling the initiative on Confidential Enquiries into Maternal Deaths. This could give obstetricians and others the impression that the birth of any child with Down’s syndrome or a neural tube defect must be the result of a culpable
medical mistake.
SIR,-Professor Wald argues the advantages of couple screening for carriers of cystic fibrosis (CF) over stepwise screening but does not mention the disadvantages and the ethical issues involved. Couple screening fails to use the information generated to inform relatives of detected cai-riers of their risk and to alert detected carriers of their risk with new partners, and it may have more difficulties with non-paternity. Following up first-degree relatives of carriers increases screening efficiency: if 25 % of the population is screened, 61 % of at-risk couples are detected in the population if relatives are contacted whereas only 45% of at-risk couples are detected if there is no follow-up.’1 Genetic counselling should be non-directive. If a physician withholds information he is being directive because the patient is not given full information to make choices. Indeed, non-disclosure of information might in law be considered an "injury" to the parents and the future child.2 Wald comments that none of the screened couples in his pilot study asked for the result so he concludes that they did not want to know. However, the couples took the test on the
Non-directive
genetic counselling
SIR,-My Oct 19 article prompted five letters in your issue of Nov 16 (pp 1266-68). Both Dr Super and Professor Pembrey are based in children’s hospitals: I wonder if our experiences of clinical genetics differ for that reason. Perhaps they see only families in which children are affected by severe conditions, whereas Dr Morrison and Professor Nevin and I see families anxious to know that selective termination of pregnancy would be available for fetuses affected by milder or even by medically trivial disorders. Perhaps Super does not himself see the Turner syndrome fetuses terminated after an inadvertent diagnosis at amniocentesis, whereas departments with fetal pathology laboratories will do so. The decision to terminate a Turner syndrome pregnancy is heavily influenced by the specialty of the doctor who discusses the issues with the family, the rate of termination being much lower after discussion with a clinical geneticist than an obstetrician.1,2 I thank Super for his support of my view that clinical geneticists should retain a role in the day-to-day care of patients with genetic disorders and Morrison and Nevin for their backing for my view that prenatal testing and selective terminations of pregnancy may be ethically undesirable for many disorders that can (technically) be diagnosed. I have also been heartened by support from other genetics colleagues who wish to move beyond the 1980s consumerism model of clinical genetics. There is a real tension between wanting to provide the maximum of information and of reproductive choice to pregnant women and the concern and respect that we show towards those members of our society who are affected by genetic and congenital disorders. The "can do, will do" approach to prenatal diagnosis is blind to social consequences and needs reassessment.
Pembrey reminds me that there is already a consensus amongst clinical geneticists that "reduction of the birth incidence of genetic disorders is not the object of genetic services". Sadly, such statements from senior members of the profession are not enough: their wishing does not make it so. Those health professionals (often not clinical geneticists) who wish to adopt a public health perspective to justify our existence through a cost-benefit analysis will be quite capable of learning to preface their remarks by explicit, but purely cosmetic, disavowals of eugenic intent. It is often these cost-benefit considerations, with crude reckoning of cash saved per termination achieved, that speak loudest to health authorities. The Royal College of Physicians’ report3 is one example of a superficially anti-eugenic preface followed by a clear "genetic hygiene" approach to inherited disease, with an emphasis on the fall in incidence of costly disorders that is bound to appeal to those with an accountant’s turn
of mind.
Decision-making by many women and couples, especially during a pregnancy, is not the operation of pure reason but is heavily influenced by many factors. The implicit recommendation to accept a prenatal diagnostic or screening test-which is how many will react to any such suggestion or offer made by doctor or
Mrs Simms seems to think that I am totally opposed to the legal for termination of pregnancy. What concerns me is the selective termination of pregnancies on the basis of judgments made about what types of people are worthy of life: what account is taken of the respect due to affected individuals by society at large? Her other point is that I did not refer to the strain of long-term care of handicapped children. She sees these socially imposed difficulties as immutable but the biologically determined abnormalities as preventable.4 I would argue that the bitterness felt by the inadequately supported parents of children with handicaps would be better directed against a society that regards the care of such individuals as a private matter rather than a social responsibility laid upon us all, and that chooses to consume resources in other ways. This argument is also relevant to no-fault compensation for victims of medical accidents: such compensation would mean very little if proper provision were made for those in need.
provision
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK
ANGUS CLARKE
M, Ryyvanen M, Lindenbaum RH. Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat Diagn 1987; 7: 239-44. 2. Robinson R, Bender BG, Linden MG. Decisions following the intrauterine diagnosis of sex chromosome aneuploidy. Am J Med Genet 1989; 34: 552-54. 3. Royal College of Physicians’ Working Party. Prenatal diagnosis and genetic screening: community and service implications. London: RCP, 1989. 4. Lippmann A. Prenatal genetic testing and screening: constructing needs and reinforcing inequities. Am J Law Med 1991; 17: 15-50. 1. Holmes-Seidle
Screening for cystic fibrosis SIR,-Professor Wald (Nov 23, p 1318) remarks that, despite improvements in outlook, the expectation of life for patients with cystic fibrosis (CF) is still less than 25 years. This is unduly pessimistic. Survival with CF has improved in recent years and life expectancy in those with CF is highly dependent on year of birth. Mortality experience, therefore, underestimates the likely life expectancy of babies with CF born today. Patients dying from CF in 1991 at age 25 were born at a time when median survival was about 5 years. For CF babies bom today life expectancy is nearer 40.1 Prenatal screening and diagnosis is valuable to parents who have decided that they would not wish to proceed with a pregnancy affected by CF. The parental decision to proceed with screening should, however, be made on the basis of the most accurate and up-to-date information. Today’s parents should be told that most of those with CF diagnosed by prenatal screening would probably live well into middle age. Respiratory Medicine Unit, City Hospital, Nottingham NG5 1PB, UK
J. BRITTON J. KNOX
A.
1. Elborn JS, Shale DJ, Britton JR. Cystic fibrosis: current survival and estimates to the year 2000. Thorax 1991; 46: 881-85.
population
midwife-will affect many decisions. I agree with Harris and Hopkins about the need for the development of medical genetics services and of the genetics education of colleagues in other specialties. However, they are wrong to suggest that I would withhold information from patients at risk of genetic disorders. This misinterpretation leads them to dismiss the question of whether society should limit the range of disorders for which prenatal diagnosis and the selective termination of pregnancies is available. They also discuss the Royal College of Physicians’ "confidential inquiry" and the open forum at which that project was discussed. I did indeed support the principle of an educational initiative, having been assured that the plans would be modified to encompass the prevention of complications of inherited disorders (eg, bowel cancer in familial adenomatous polyposis) besides offers of prenatal diagnosis. However, I also expressed strong misgivings about modelling the initiative on Confidential Enquiries into Maternal Deaths. This could give obstetricians and others the impression that the birth of any child with Down’s syndrome or a neural tube defect must be the result of a culpable
medical mistake.
SIR,-Professor Wald argues the advantages of couple screening for carriers of cystic fibrosis (CF) over stepwise screening but does not mention the disadvantages and the ethical issues involved. Couple screening fails to use the information generated to inform relatives of detected cai-riers of their risk and to alert detected carriers of their risk with new partners, and it may have more difficulties with non-paternity. Following up first-degree relatives of carriers increases screening efficiency: if 25 % of the population is screened, 61 % of at-risk couples are detected in the population if relatives are contacted whereas only 45% of at-risk couples are detected if there is no follow-up.’1 Genetic counselling should be non-directive. If a physician withholds information he is being directive because the patient is not given full information to make choices. Indeed, non-disclosure of information might in law be considered an "injury" to the parents and the future child.2 Wald comments that none of the screened couples in his pilot study asked for the result so he concludes that they did not want to know. However, the couples took the test on the
