Taylor Matthew R G, Edwards Janice G, Ku Lisa
Adult Medical Genetics Program, Department of Medicine, University of Colorado Health Sciences, 12635 East Montview Boulevard, Aurora, CO 80045, USA.
Am J Med Genet C Semin Med Genet. 2006 Nov 15;142C(4):294-303. doi: 10.1002/ajmg.c.30105.
It is increasingly clear that medical genetics has broad relevance in adult clinical medicine. More adult patients with genetic conditions are being recognized, genetic testing for adult-onset genetic conditions is expanding, and children with genetic conditions are now more likely to survive to adulthood. While the number of patients who could benefit from medical genetic services increases, adult care providers are less well educated about clinical genetics and are not sufficiently prepared to meet the growing needs of this population. Genetics professionals may also be ill-suited for this challenge, since geneticists and genetic counselors have traditionally had greater experience in pediatric and prenatal settings. Communication between primary care physicians who treat adults and the genetics community is currently suboptimal and the identification and subsequent referral of adult patients for genetic services need improvement. Finally, published guidelines that address how to deliver genetic services to adult patients are unavailable for many genetic conditions. In this article we address the challenges of transitioning genetics services from traditional, and largely pediatric-based models to paradigms that can best address the needs of adult patients with genetic conditions. Potential solutions and the practicality of implementation of a team-based approach to adult genetic medicine, including the application of genetic counseling, are also discussed.
越来越明显的是，医学遗传学在成人临床医学中具有广泛的相关性。越来越多患有遗传疾病的成年患者被识别出来，针对成人发病的遗传疾病的基因检测正在扩大，患有遗传疾病的儿童现在更有可能存活至成年。虽然能够从医学遗传服务中受益的患者数量在增加，但成人护理提供者对临床遗传学的了解较少，并且没有充分准备好满足这一人群不断增长的需求。遗传学专业人员可能也不适合应对这一挑战，因为遗传学家和遗传咨询师传统上在儿科和产前环境中有更多经验。治疗成人的初级保健医生与遗传学领域之间的沟通目前并不理想，成人患者的基因服务识别及后续转诊需要改进。最后，针对许多遗传疾病，尚无已发表的关于如何为成年患者提供遗传服务的指南。在本文中，我们探讨了将遗传服务从传统的、主要基于儿科的模式转变为能够最好地满足患有遗传疾病的成年患者需求的模式所面临的挑战。还讨论了基于团队的成人遗传医学方法实施的潜在解决方案和实用性，包括遗传咨询的应用。
