Harris R
St Mary's Hospital, Manchester.
J R Coll Physicians Lond. 1998 Jul-Aug;32(4):335-8.
The Genetic Enquiry Centre in Manchester has designed a three-pronged health services research programme to address current issues in genetics. The issues are: whether doctors who are not trained in genetics can manage the genetic problems they meet in their practice; whether there are enough resources in specialist centres to cope with current and imminent referrals; and whether providers of primary care recognise genetic problems and refer patients appropriately. The three studies providing the basis of the programme--the National Confidential Enquiry into Counselling for Genetic Disorders, the Concerted Action on Genetics Services in Europe and the Primary Care for Genetics Patients study--are discussed. The first two provide unique views of genetic counselling in the UK and of the access to and quality of health services for patients with or at risk of genetic disorders throughout Europe, and make recommendations based on their findings. The third is a continuing study that aims to determine the effects of patterns of referral and care in the different healthcare systems in Europe. Although it is unlikely that there will ever be enough medical geneticists to cope with the consequences of genetic advances on health services that are largely unprepared, specialist genetic centres are the natural core resource for future multi-specialty genetic services. This will give clinical geneticists an extended role complementary to that of diagnosing rare syndromes.
曼彻斯特的基因咨询中心设计了一项三管齐下的卫生服务研究计划,以解决当前遗传学领域的问题。这些问题包括:未接受过遗传学培训的医生能否处理他们在临床中遇到的遗传问题;专科中心是否有足够的资源来应对当前及即将到来的转诊;以及初级保健提供者是否能识别遗传问题并适当地转诊患者。文中讨论了为该计划提供基础的三项研究——全国遗传疾病咨询保密调查、欧洲遗传学服务协同行动以及遗传疾病患者初级保健研究。前两项研究分别对英国的遗传咨询以及全欧洲遗传疾病患者或有遗传疾病风险的患者获得医疗服务的途径和质量提供了独特见解,并根据研究结果提出了建议。第三项研究是一项持续性研究,旨在确定欧洲不同医疗体系中的转诊和护理模式所产生的影响。尽管不太可能有足够的医学遗传学家来应对遗传学进展给准备严重不足的卫生服务带来的后果,但专科遗传中心是未来多专科遗传服务的天然核心资源。这将使临床遗传学家在诊断罕见综合征之外发挥更广泛的补充作用。