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New genetics needs new vessels
- Glyn Elwyn (4 December 1999)
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Gps and the new genetics
- D Donnai (17 December 1999)
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Glyn Elwyn, senior lecturer in general practice UWCM Cardiff
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Dear Sir, The article by Kumar and Gantley [1] provides an important contribution to the debate on the appropriate role of general practitioners in the provision of genetic services. Although much of the literature emanating from the specialist arena suggests that some level of genetics services should be offered within primary care-argued on the basis of familiarity with families, their dynamics, and, in the NHS at least, access to a life-long clinical record, and a potential to provide continuous care-their results raise significant doubts about the feasibility of the current generalist service taking on any significant role in the new genetics [2]. We would echo this finding and our early analysis of research work conducted with general practitioners in South Wales over the last six months confirms the lack of detailed knowledge about genetics in general, and cancer genetics in particular. More significantly perhaps, it seems that genetics is not considered a relevant priority compared to the demand -led problems faced by these practitioners. Watson's call for an increase of educational activity in this area may be misguided [3]. A reluctance exists to acquire the knowledge and skills required to take the type of detailed family histories during consultations and to explain risk to patients, even though it was acknowledged that this could guide the appropriateness, or not, of a referral to a newly established all-Wales Cancer Genetics service. It has to be emphasised however that this hesitancy was based entirely on the practical problems of matching time to demand. They simply could not perceive of a generalist service orientated around the need to satisfy the detailed exchange of information required in a genetic counselling exercise, and rejected the idea that this could ever be assisted by any sort of computer-assisted decision aids. The establishment of an all-Wales cancer genetics service earlier this year, was generally welcomed, yet there was some unease about the requirement to adhere to referral guidelines [4] in order to prevent the service being overwhelmed by 'low risk' patients. The Cancer Genetics services, however, is keen to discharge all low risk patients (for breast, ovarian and colo-rectal cancer) back to primary care for support and counselling. Striking the balance between these two thresholds whilst meeting the rising expectations of both patients and policy makers will be a difficult task. The tension and anxiety we have witnessed, confirmed by Kumar and Gantley, seems to question the raison d'être of a generalist service. If it is not structured or resourced to a level where it can provide what patients want-a reasonable conduit of information and advice about a new, if controversial, service, where should people turn? Glyn Elwyn, senior lecturer in general practice Jonathon Gray, consultant in cancer genetics Rachel Iredale, project worker Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN Email: elwyng@cf.ac.uk References 1. Kumar S and Gantley M, Tensions between policy makers and general practitioners in implementing new genetics: grounded theory interview study. BMJ, 1999. 319: p. 1410-3. 2. Harris R and Harris H, Genetics in Primary Care. Report on workshop of EC Concerted Action on Genetics Services in Europe (CAGSE) in association with the RCGP Spring Meeting, Blackpool, 1995. Journal of Medical Genetics, 1996. 33: p. 346-8. 3. Watson EK, Shickle D, Qureshi N, Emery J, and Austoker J, The 'new genetics' and primary care: GPs' views on their role and their educational needs. Family Practice, 1999. 16: p. 420-5. 4. Gray J, Cancer Genetics Referral Guidelines, . 1999, Institute of Medical Genetics: University of Wales College of Medicine: Cardiff. |
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D Donnai
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Dear Sir - As specialists' providing genetic services, we read with interest Kumar and Gantley's(1) thoughtful paper on general practitioners views of their role in the provision of such services. Their findings describe general practitioners' concerns about raising the issue of genetic risk with patients. We appreciate the practical constraints in adopting a proactive approach, but would challenge the notion of an ethical constraint described as the "therapeutic gap". It is naive to believe that people don't worry about their family histories. Families at risk of mendelian as well as "common disorders" such as inherited cancers, develop their own "lay" constructs of inheritance; and this is born out in studies in the general population(2).. Many professionals were initially wary of offering pre-symptomatic testing for Huntington's disease and BRCA 1&2, but such testing has been sought by many at- risk individuals(3) . The situation may be different for people who may not consider their family history as significant, however we would caution against pre-judging their anxieties. Kumar and Gantley do not consider that information and counselling can be a therapy in itself. Women with a family history of breast cancer as well as women in the general population consistently overestimate their risk of breast cancer before genetic risk assessment and counselling, a process which improves knowledge without causing a negative impact on mental health(4). Failure to identify significant family histories for referral denies patients access to an important specialist service which addresses the needs of at-risk, as well as affected individuals. The study, in highlighting tensions between the views of general practitioners and some policy makers, concentrated on the roles of doctors, (both general practitioners and specialist clinical geneticists), but we believe there is a "third way" involving other professions within the regional genetic centres and the primary care team. Regional specialist genetic services are multidisciplinary; clinical geneticists work with members of an emerging profession - genetic counsellors, whose training and competencies are currently being formalized(5). Such individuals have a background in nursing or science and training in genetics through an MSc programme or in service. They have skills in communicating genetic facts, and provide specialist support and psychological counselling surrounding genetic diagnosis and testing. We envisage a model whereby genetic counsellors are based in genetic centres but with formal links with primary care practices. For low or medium risk families information could be imparted to enable the GP or practice nurse to inform and reassure the patient. For those at more substantial risk a genetic counselling session could be arranged either in the practice setting or in central or outreach genetic clinics. We believe the time is right to initiate research into this integrated model, to investigate whether this would be a practical and acceptable approach for patients and their primary and secondary care providers. Refs 1. Kumar S, Gantley M. Tensions between policy makers and general practitioners in implementing new genetics: grounded theory interview study. BMJ 1999;1410-1413.(27 November.) 2. Richards M. Lay knowledge of genetics: a test of an hypothesis. J Med Genet 1996; 33: 1032-36. 3. Evans EGR, Maher ER, MacLeod R, Davies DR, Craufurd,D. Uptake of genetic testing for cancer pre-disposition. J Med Genet 1997; 34:746-748. 4. Watson M. The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer. Br J Cancer 1999; 79:868-874. 5. Skirton H, Barnes C, Guilbert P, Kershaw A, Kerzin-Storrar L et al. Recommendations for Education and Training of Genetic Nurses and Counsellors in the United Kingdom. J Med Genet 1998; 35: 410-412. +*Professor Dian Donnai MB FRCP FRCOG FRCPCH
*Lauren Kerzin-Storrar
*Dr David Craufurd
*Dr Gareth Evans
*Dr Jill Clayton-Smith
*Dr Helen Kingston
* corresponding address: University Department of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Hathersage Road, Manchester M13 0JH |
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