1406
conditions, how
Genetics, ethics, and audit SIR,-Dr Clarke’s thoughtful and well presented report (May 12, p 1145) brings the issue of audit in genetic practice to public attention. Clarke suggests that three measures of audit for clinical genetics could be: the extent to which all appropriate individuals have been offered genetic counselling, the assessment of work load, and clients’ satisfaction. His views have prompted me to reconsider this issue, which I think must be related to the aims of genetic counselling. My views have been greatly influenced by those of the late C. 0. Carteriz who I believe was the first person to apply audit to clinical genetics. Firstly, information given in the genetic clinic should be both correct and complete. Discussion with colleagues and long-term follow-up of families will help to ensure this. Implicit in this aim is that all patients seen in a genetic clinic should be kept informed about new advances and any at-risk relatives should be offered genetic advice. Client satisfaction should follow, provided that the information has been given in a lucid and considerate manner. Secondly, the early recognition of some genetic diseases leads to improvement in management of the patient or of their families, and it is for these diseases (such as the familial cancer syndromes) that the clinical geneticist should aim for full ascertainment of cases and education of both families and medical staff. Clarke believes that birth frequency figures should not be used as a measure of audit. I disagree since surely one aim of clinical genetics is to reduce the burden of handicapping genetic disease in the community? However, I agree that genetic disease frequency should not be reduced to the level where no babies with severe familial genetic disease are bom, but to a level above this-one that is acceptable to and appropriate for the local community. I also agree that social and financial pressures should not be allowed to influence clients’ decisions, but it is also important that clinical geneticists monitor the birth frequency of a few sentinel genetic diseases to note any trends that result from genetic counselling or other factors such as changing exposure to mutagens. Assessment of work load and efficiency of genetic services should be subsidiary to these aims. Clinical Genetics Unit,
Birmingham Maternity Hospital, Edgbaston, Birmingham B15 2TG, 1. Carter
UK
SARAH BUNDEY
CO, Roberts JAF, Evans KA, Buck AR. Genetic clinic:
1971; i: 281-85. 2. Carter CO. Current status of Lenz
W, eds
a
follow-up.
Lancet
can
it stop short of
35 Stileham Bank, Milborne St Andrew, Blandford Forum, Dorset DT11 0LE
ALISON DAVIS
for "adult" diseases
Testing of children
important issues with respect to testing of children for genetic diseases that usually present in adulthood. They do not, however, discuss one very important limitation of DNA-based tests in children. Although tests can give an age-independent and accurate assessment of whether a child is a gene carrier (within the limits imposed by recombination) they will not establish whether any symptoms are attributable to the possession of the disease gene. We were recently asked to do DNA testing for Huntington’s disease (HD) on the 7-year-old daughter of an affected man. She had neurological symptoms suggestive of juvenile HD, and the test was requested to confirm the diagnosis. We refused to test her because a high-risk test result could not confirm that her present symptoms were attributable to HD, and a diagnosis based on clinical examination was more appropriate since she already had a risk of 50%. An unfavourable test result might have deterred investigations that could have identified a treatable cause for her illness. Conversely, with a clinical picture resembling juvenile HD the most likely interpretation of a low-risk test result would be the existence of a genetic recombination event between the HD gene and the marker. Most importantly, if the child were to recover after a high-risk result we would have done a predictive test before she could give her consent to testing. Our experience of offering predictive tests to adults at risk for this disorder suggests that no more than 15% choose to proceed with such tests.1 It cannot therefore be assumed that the child would later choose
to
have
a
predictive test, and the limited contribution of testing towards making a diagnosis should be weighed against the considerable psychosocial hazards if the illness turned out not to be HD. We find it difficult to envisage a situation which would justify presymptomatic testing for HD in a child too young to provide informed
consent.
Department of Medical Genetics, St Mary’s Hospital, Manchester M1 3 0JH, UK
D. CRAUFURD D. DONNAI L. KERZIN-STORRAR
Department of Psychiatry, Manchester Royal Infirmary
M. OSBORN
Excerpta Medica, 1974; 277-80.
SIR,—Dr Clarke’s article contains the interesting suggestion that the "supermarket syndrome" might be a "potent influence on decisions about terminations for fetal abnormality". If this is so, then society is implicated in the current eugenic euphoria where disabilities are regarded as "prevented" if the affected individual is eliminated at the earliest opportunity, and where Parliament has recently voted to allow abortion on the grounds of fetal handicap up to birth. Every person with an obvious handicap-including myself since I am confined to a wheelchair because of spina bifida-knows only too well the humiliation of being stared at and questioned by curious passers-by who seem to feel they have an indisputable right to know what’s wrong. The remedy for this is not in my view an assumption that the victim of such offensive behaviour is better off dead. If it were we would be forced, surely, to conclude that black people (victims of very great hostility and discrimination in many circumstances), old people (subjected to patronising attitudes, and often living in poverty), and children wearing glasses at school (who likes being called "four eyes"?) should also be done away with because someone else cannot cope with seeing them. Human rights should not depend on the status ascribed to a particular group of people by those who seem to conform more nearly to the currently accepted norm. Neither should it rely on one’s potential for economic viability or liability. If society is saying that it is legitimate to discriminate fatally against those who suffer most from public attitudes to their
genetic
SIR,-Professor Harper and Dr Clarke (May 19, p 1205) raise many
genetic counselling and its assessment. In: Motulsky AG,
Birth defects. Amsterdam:
intimating that killing black
people is less reprehensible than killing whites, because black people suffer more discrimination? The answer is to remove the prejudice, not the people who suffer because of it.
D, Dodge A, Kerzin-Storrar L, Harris R. Uptake of presymptomatic predictive testing for Huntington’s disease Lancet 1989; ii. 603-05
1 Craufurd
Medical research in New Zealand come from a disciplinary base in, for and economics are prone to believe that medical example, sociology research funding should be switched in toto from the medical sciences into public health research. The vigorous propagation in New Zealand of associated policies is reflected in a Round the World correspondent’s report in your issue of April 21, which quotes a view that public health research has been "grossly neglected in New Zealand over at least two decades". The neglect is blamed on the Medical Research Council of New Zealand. Yet the report quoted shows that, in applied research, public health has recently taken 15-1% and biomedical research 8-9% of MRC grant expenditure. The same report shows the existence of alternative funding available exclusively to public health research: the Department of Health maintains a health services research and development unit (26-5 staff, annual expenditure$NZ 1240 000), a health economics unit (5 staff), a national health statistics centre (41 staff,$NZ 3300 000), and a National Health Institute (75 staff, $NZ 4100 000). New Zealand does not have a national biomedical
SIR,-Health workers who
1407
research institute such as those of the UK, USA, and Australia. Most of the equivalent medical science is to be found in medical school departments and is funded from programme and project grants of the MRC, for which total annual expenditure is $NZ 8690 000). The department of community health in the Auckland School of Medicine, which has six university-funded staff led by Prof Robert Beaglehole, has in the past three years reported a total of forty-six new research grants, the value totalling $NZ 2765 407. If this is neglect, give me excess of it.
J.
Department of Physiology, University of Auckland, Auckland, New Zealand
D. SINCLAIR,
Former scientific secretary, Medical Research Council of New Zealand
Music in the
operating-room
SIR,--Operating-room noise levels are often high enough to interfere with communication among the theatre team, to increase patient apprehension and stress, and to divert attention or to cause irritability, resulting in compromised patient safety. In the United States background music is often chosen and provided by the principal surgeon who may arrive in the operating room with his own radio or tape, or compact disk player. Strict operating room electrical codes do not seem to apply, and these machines are rarely inspected for ground leakage and electrical faults and are usually powered by improvised electrical cords. Record players are sometimes purchased for a favoured operatingroom staff by a frequently visiting surgeon. While low-volume background music is probably helpful in relieving stress, noisy music is not. Some kinds of music are soothing, some are not. Music played loud enough to be perceptible may induce tranquillity in some and be annoying to others. We have yet to discover one of these record machines that was provided by an anaesthetist. Mr Hodge and Mr Thompson (April 14, p 891) are surgeons. While there is no doubt that a startling noise can result in a slip of the knife, we suggest that the anaesthetist attempting to listen to cardiac and respiratory sounds through a stethoscope and pay attention to a myriad of audiovisual alarms is impeded by continuous noise and by startling sounds. Monitor alarms are intended to be intrusive and annoying, although more easily recognised and specific alarms are being developed. Operating rooms are too noisy; radios and record players are not necessary to the surgical procedure and can easily be eliminated. Department of Anesthesia, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA
ARTHUR J. L. SCHNEIDER JULIEN F. BIEBUYCK
Cardiac arrest telephone numbers SIR,-Delay in the arrival of the resuscitation team to a patient with cardiopulmonary arrest will affect outcome, and this has clearly been shown for out-of-hospital cardiac arrest.1 The telephone code which hospital staff dial to summon the resuscitation team is not standardised in the UK even though doctors and nurses change jobs. When we asked 100 UK hospitals (20 selected at random from
Pituitary-adrenocortical function in treated Hodkgin disease SIR,-Dr Razavi and colleagues (April 21, p 931) report a significant impact of psychosocial factors, especially distress, on outcome of patients with breast cancer. They conclude that changes in the neuroendocrine system may be the major link between emotional processes and the course of cancer. We decided to investigate hormonal indices known to be influenced by psychosocial factors in the context of other malignant diseases. Within a trial comparing two chemotherapy regimens (plus radiotherapy) in patients with Hodgkin disease1 we did a pilot study on 21 men aged 18-48 years at between 4 months and 13 years after the end of treatment. Matched healthy individuals served as controls. Corticotropin (ACTH) and cortisol levels were measured before and after stimulation with 100 I-lg corticotropin-releasing hormone (CRH; Bissendorf Peptide, Wedemark) given intravenously. We also measured baseline levels of luteinising hormone (LH), follicle-stimulating hormone (FSH), prolactin, testosterone, and 17 a-hydroxyprogesterone (17-OHP). All tests were done between 0800 and 1100 hours. Statistical evaluation was done by Wilcoxon (within group) and Dunn (between group) tests. After both treatment regimens, patients differed from controls in having increased baseline levels of LH, FSH, and prolactin. However, FSH increased by less in patients on ABOEP (see table) than in those on COPP regimen, which confirms the reduced long-term toxicity of ABOEP.* For both groups together ACTH levels 60 min before stimulation were above normal (p < 005) but fell to normal by time zero. Patients had increased cortisol levels 60 min before CRH (p < 0 005); cortisol levels fell during the run-in but and in controls (p
conditions, how
Genetics, ethics, and audit SIR,-Dr Clarke’s thoughtful and well presented report (May 12, p 1145) brings the issue of audit in genetic practice to public attention. Clarke suggests that three measures of audit for clinical genetics could be: the extent to which all appropriate individuals have been offered genetic counselling, the assessment of work load, and clients’ satisfaction. His views have prompted me to reconsider this issue, which I think must be related to the aims of genetic counselling. My views have been greatly influenced by those of the late C. 0. Carteriz who I believe was the first person to apply audit to clinical genetics. Firstly, information given in the genetic clinic should be both correct and complete. Discussion with colleagues and long-term follow-up of families will help to ensure this. Implicit in this aim is that all patients seen in a genetic clinic should be kept informed about new advances and any at-risk relatives should be offered genetic advice. Client satisfaction should follow, provided that the information has been given in a lucid and considerate manner. Secondly, the early recognition of some genetic diseases leads to improvement in management of the patient or of their families, and it is for these diseases (such as the familial cancer syndromes) that the clinical geneticist should aim for full ascertainment of cases and education of both families and medical staff. Clarke believes that birth frequency figures should not be used as a measure of audit. I disagree since surely one aim of clinical genetics is to reduce the burden of handicapping genetic disease in the community? However, I agree that genetic disease frequency should not be reduced to the level where no babies with severe familial genetic disease are bom, but to a level above this-one that is acceptable to and appropriate for the local community. I also agree that social and financial pressures should not be allowed to influence clients’ decisions, but it is also important that clinical geneticists monitor the birth frequency of a few sentinel genetic diseases to note any trends that result from genetic counselling or other factors such as changing exposure to mutagens. Assessment of work load and efficiency of genetic services should be subsidiary to these aims. Clinical Genetics Unit,
Birmingham Maternity Hospital, Edgbaston, Birmingham B15 2TG, 1. Carter
UK
SARAH BUNDEY
CO, Roberts JAF, Evans KA, Buck AR. Genetic clinic:
1971; i: 281-85. 2. Carter CO. Current status of Lenz
W, eds
a
follow-up.
Lancet
can
it stop short of
35 Stileham Bank, Milborne St Andrew, Blandford Forum, Dorset DT11 0LE
ALISON DAVIS
for "adult" diseases
Testing of children
important issues with respect to testing of children for genetic diseases that usually present in adulthood. They do not, however, discuss one very important limitation of DNA-based tests in children. Although tests can give an age-independent and accurate assessment of whether a child is a gene carrier (within the limits imposed by recombination) they will not establish whether any symptoms are attributable to the possession of the disease gene. We were recently asked to do DNA testing for Huntington’s disease (HD) on the 7-year-old daughter of an affected man. She had neurological symptoms suggestive of juvenile HD, and the test was requested to confirm the diagnosis. We refused to test her because a high-risk test result could not confirm that her present symptoms were attributable to HD, and a diagnosis based on clinical examination was more appropriate since she already had a risk of 50%. An unfavourable test result might have deterred investigations that could have identified a treatable cause for her illness. Conversely, with a clinical picture resembling juvenile HD the most likely interpretation of a low-risk test result would be the existence of a genetic recombination event between the HD gene and the marker. Most importantly, if the child were to recover after a high-risk result we would have done a predictive test before she could give her consent to testing. Our experience of offering predictive tests to adults at risk for this disorder suggests that no more than 15% choose to proceed with such tests.1 It cannot therefore be assumed that the child would later choose
to
have
a
predictive test, and the limited contribution of testing towards making a diagnosis should be weighed against the considerable psychosocial hazards if the illness turned out not to be HD. We find it difficult to envisage a situation which would justify presymptomatic testing for HD in a child too young to provide informed
consent.
Department of Medical Genetics, St Mary’s Hospital, Manchester M1 3 0JH, UK
D. CRAUFURD D. DONNAI L. KERZIN-STORRAR
Department of Psychiatry, Manchester Royal Infirmary
M. OSBORN
Excerpta Medica, 1974; 277-80.
SIR,—Dr Clarke’s article contains the interesting suggestion that the "supermarket syndrome" might be a "potent influence on decisions about terminations for fetal abnormality". If this is so, then society is implicated in the current eugenic euphoria where disabilities are regarded as "prevented" if the affected individual is eliminated at the earliest opportunity, and where Parliament has recently voted to allow abortion on the grounds of fetal handicap up to birth. Every person with an obvious handicap-including myself since I am confined to a wheelchair because of spina bifida-knows only too well the humiliation of being stared at and questioned by curious passers-by who seem to feel they have an indisputable right to know what’s wrong. The remedy for this is not in my view an assumption that the victim of such offensive behaviour is better off dead. If it were we would be forced, surely, to conclude that black people (victims of very great hostility and discrimination in many circumstances), old people (subjected to patronising attitudes, and often living in poverty), and children wearing glasses at school (who likes being called "four eyes"?) should also be done away with because someone else cannot cope with seeing them. Human rights should not depend on the status ascribed to a particular group of people by those who seem to conform more nearly to the currently accepted norm. Neither should it rely on one’s potential for economic viability or liability. If society is saying that it is legitimate to discriminate fatally against those who suffer most from public attitudes to their
genetic
SIR,-Professor Harper and Dr Clarke (May 19, p 1205) raise many
genetic counselling and its assessment. In: Motulsky AG,
Birth defects. Amsterdam:
intimating that killing black
people is less reprehensible than killing whites, because black people suffer more discrimination? The answer is to remove the prejudice, not the people who suffer because of it.
D, Dodge A, Kerzin-Storrar L, Harris R. Uptake of presymptomatic predictive testing for Huntington’s disease Lancet 1989; ii. 603-05
1 Craufurd
Medical research in New Zealand come from a disciplinary base in, for and economics are prone to believe that medical example, sociology research funding should be switched in toto from the medical sciences into public health research. The vigorous propagation in New Zealand of associated policies is reflected in a Round the World correspondent’s report in your issue of April 21, which quotes a view that public health research has been "grossly neglected in New Zealand over at least two decades". The neglect is blamed on the Medical Research Council of New Zealand. Yet the report quoted shows that, in applied research, public health has recently taken 15-1% and biomedical research 8-9% of MRC grant expenditure. The same report shows the existence of alternative funding available exclusively to public health research: the Department of Health maintains a health services research and development unit (26-5 staff, annual expenditure$NZ 1240 000), a health economics unit (5 staff), a national health statistics centre (41 staff,$NZ 3300 000), and a National Health Institute (75 staff, $NZ 4100 000). New Zealand does not have a national biomedical
SIR,-Health workers who
1407
research institute such as those of the UK, USA, and Australia. Most of the equivalent medical science is to be found in medical school departments and is funded from programme and project grants of the MRC, for which total annual expenditure is $NZ 8690 000). The department of community health in the Auckland School of Medicine, which has six university-funded staff led by Prof Robert Beaglehole, has in the past three years reported a total of forty-six new research grants, the value totalling $NZ 2765 407. If this is neglect, give me excess of it.
J.
Department of Physiology, University of Auckland, Auckland, New Zealand
D. SINCLAIR,
Former scientific secretary, Medical Research Council of New Zealand
Music in the
operating-room
SIR,--Operating-room noise levels are often high enough to interfere with communication among the theatre team, to increase patient apprehension and stress, and to divert attention or to cause irritability, resulting in compromised patient safety. In the United States background music is often chosen and provided by the principal surgeon who may arrive in the operating room with his own radio or tape, or compact disk player. Strict operating room electrical codes do not seem to apply, and these machines are rarely inspected for ground leakage and electrical faults and are usually powered by improvised electrical cords. Record players are sometimes purchased for a favoured operatingroom staff by a frequently visiting surgeon. While low-volume background music is probably helpful in relieving stress, noisy music is not. Some kinds of music are soothing, some are not. Music played loud enough to be perceptible may induce tranquillity in some and be annoying to others. We have yet to discover one of these record machines that was provided by an anaesthetist. Mr Hodge and Mr Thompson (April 14, p 891) are surgeons. While there is no doubt that a startling noise can result in a slip of the knife, we suggest that the anaesthetist attempting to listen to cardiac and respiratory sounds through a stethoscope and pay attention to a myriad of audiovisual alarms is impeded by continuous noise and by startling sounds. Monitor alarms are intended to be intrusive and annoying, although more easily recognised and specific alarms are being developed. Operating rooms are too noisy; radios and record players are not necessary to the surgical procedure and can easily be eliminated. Department of Anesthesia, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA
ARTHUR J. L. SCHNEIDER JULIEN F. BIEBUYCK
Cardiac arrest telephone numbers SIR,-Delay in the arrival of the resuscitation team to a patient with cardiopulmonary arrest will affect outcome, and this has clearly been shown for out-of-hospital cardiac arrest.1 The telephone code which hospital staff dial to summon the resuscitation team is not standardised in the UK even though doctors and nurses change jobs. When we asked 100 UK hospitals (20 selected at random from
Pituitary-adrenocortical function in treated Hodkgin disease SIR,-Dr Razavi and colleagues (April 21, p 931) report a significant impact of psychosocial factors, especially distress, on outcome of patients with breast cancer. They conclude that changes in the neuroendocrine system may be the major link between emotional processes and the course of cancer. We decided to investigate hormonal indices known to be influenced by psychosocial factors in the context of other malignant diseases. Within a trial comparing two chemotherapy regimens (plus radiotherapy) in patients with Hodgkin disease1 we did a pilot study on 21 men aged 18-48 years at between 4 months and 13 years after the end of treatment. Matched healthy individuals served as controls. Corticotropin (ACTH) and cortisol levels were measured before and after stimulation with 100 I-lg corticotropin-releasing hormone (CRH; Bissendorf Peptide, Wedemark) given intravenously. We also measured baseline levels of luteinising hormone (LH), follicle-stimulating hormone (FSH), prolactin, testosterone, and 17 a-hydroxyprogesterone (17-OHP). All tests were done between 0800 and 1100 hours. Statistical evaluation was done by Wilcoxon (within group) and Dunn (between group) tests. After both treatment regimens, patients differed from controls in having increased baseline levels of LH, FSH, and prolactin. However, FSH increased by less in patients on ABOEP (see table) than in those on COPP regimen, which confirms the reduced long-term toxicity of ABOEP.* For both groups together ACTH levels 60 min before stimulation were above normal (p < 005) but fell to normal by time zero. Patients had increased cortisol levels 60 min before CRH (p < 0 005); cortisol levels fell during the run-in but and in controls (p
