Joseph Flora M
All Wales Medical Genetics Service, Cardiff, UK.
F1000Res. 2018 Apr 3;7:420. doi: 10.12688/f1000research.14222.2. eCollection 2018.
New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques. With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide. However, limitations remain and a proportion of individuals will continue to remain undiagnosed. In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments. In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support. I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that this kind of service should be prioritised, for the benefit of these families.
微阵列和全外显子组测序等新的基因检测技术意味着,与传统检测技术相比,患有发育障碍的儿童的诊断潜力大大提高。随着这种潜力的增加,家庭和专业人员对诊断所能提供的答案的期望也随之增加。然而,局限性仍然存在,仍有一部分人将继续无法得到诊断。此外,一些人将获得新的或非常罕见的诊断,而关于这些诊断的预后和有效治疗方法,人们知之甚少。在本文中,我提出了一个论点,即为什么这些家庭将从额外的遗传咨询师支持中受益,以及英国的临床遗传学服务如何提供这种支持。我承认资源是有限的,但随着对服务的需求增加以及与家庭的互动时间缩短,我认为应该优先提供这种服务,以造福这些家庭。