Mathew Savio S, Barwell Julian, Khan Nasaim, Lynch Ella, Parker Michael, Qureshi Nadeem
University of Plymouth, Drake Circus, Plymouth, PL4 8AA, UK.
Clinical Genetics Department, Leicester Royal Infirmary, Leicester, LE1 5WW, UK.
J Community Genet. 2017 Oct;8(4):267-273. doi: 10.1007/s12687-017-0317-5. Epub 2017 Jul 28.
Clinical genetic services and genomic research are rapidly developing but, historically, those with the greatest need are the least to benefit from these advances. This encompasses low-income communities, including those from ethnic minority and indigenous backgrounds. The "Genomix" workshop at the European Society of Human Genetics (ESHG) 2016 conference offered the opportunity to consider possible solutions for these disparities from the experiences of researchers and genetic healthcare practitioners working with underserved communities in the USA, UK and Australia. Evident from the workshop and corresponding literature is that a multi-faceted approach to engaging communities is essential. This needs to be complemented by redesigning healthcare systems that improves access and raises awareness of the needs of these communities. At a more strategic level, institutions involved in funding research, commissioning and redesigning genetic health services also need to be adequately represented by underserved populations with intrinsic mechanisms to disseminate good practice and monitor participation. Further, as genomic medicine is mainstreamed, educational programmes developed for clinicians should incorporate approaches to alleviate disparities in accessing genetic services and improving study participation.
临床遗传服务和基因组研究正在迅速发展,但从历史上看,最有需求的人群从这些进展中受益最少。这包括低收入社区,包括那些来自少数民族和原住民背景的社区。在2016年欧洲人类遗传学学会(ESHG)会议上举办的“基因组学”研讨会提供了一个机会,让我们能够根据美国、英国和澳大利亚与服务不足社区合作的研究人员和遗传医疗从业者的经验,思考解决这些差距的可能方案。从研讨会及相应文献中可以明显看出,采用多方面的方法来与社区互动至关重要。这需要通过重新设计医疗保健系统来加以补充,该系统应改善这些社区的就医机会并提高对其需求的认识。在更具战略意义的层面上,参与资助研究、委托和重新设计遗传健康服务的机构也需要有服务不足人群的充分代表,并具备传播良好实践和监测参与情况的内在机制。此外,随着基因组医学成为主流,为临床医生制定的教育计划应纳入一些方法,以缓解在获取遗传服务方面的差距并提高研究参与度。