Grace Tegan, Hoskins Samantha, Pringle Kirsty, Mason Gillian, Cruz Turner Melinda, Ludski Keren, Usher Leila, Ghafournia Nafiseh, Pennell Craig
School of Medicine and Public Health, The University of Newcastle, Callaghan, New South Wales, Australia
Mothers and Babies Research Program, Hunter Medical Research Institute, New Lambton, New South Wales, Australia.
BMJ Open. 2024 Dec 4;14(12):e086908. doi: 10.1136/bmjopen-2024-086908.
Research to develop early screening tools to determine an individual's risk of developing adult-onset disease is a growing field. Expectant parents may find themselves with an option in the future to undergo screening to determine not only genetic abnormalities in their child but also their risk of developing adult-onset non-communicable diseases (NCD) such as hypertension, obesity or hypercholesterolaemia. To ensure acceptability and feasibility of new screening tools researchers must work in partnership with healthcare consumers to discern consumers' current understanding and acceptance of these technologies in research and the potential for clinical applications. We sought to engage with healthcare consumers to develop a consensus, using a modified Delphi study design, for the acceptability of (1) screening tools for use within pregnancy that would indicate a child's risk for developing NCD, and (2) targeted early interventions for those identified at a higher risk of developing NCD using precision medicine approaches. The acceptability of future research design and conduct as well as the implications for implementation into routine healthcare were discussed. In addition, participants were asked to rank the non-communicable diseases they believed were of most importance for precision medicine research focus, in line with recent calls for better involvement of healthcare consumers in setting research questions and defining priority areas.
A modified two-stage Delphi study design including an in-person consumer workshop (stage 1) and online follow-up survey (stage 2), was used to evaluate consumer consensus for research to develop precision medicine tools for early detection and potential intervention to reduce onset of NCDs. The acceptability of research design and conduct and future implications for the implementation of newly developed tools into routine healthcare was also addressed.
We engaged 76 healthcare consumers in 2020, in the Hunter New England Region, New South Wales, Australia. Participants were recruited from existing healthcare consumer organisations, research programmes and healthcare networks through purposeful selection, with a focus on participants having a broad range of experiences and backgrounds to ensure adequate representativeness.
Our findings indicate the majority (98%) of participants in our study believe early screening for risk of NCD in their children was acceptable, provided it was equitable and clear pathways for referral and support were available.
研发早期筛查工具以确定个体患成人期疾病风险的研究领域正在不断发展。未来，准父母可能会面临一种选择，即接受筛查，这不仅可以确定孩子的基因异常情况，还能确定他们患成人期非传染性疾病（如高血压、肥胖症或高胆固醇血症）的风险。为确保新筛查工具的可接受性和可行性，研究人员必须与医疗保健消费者合作，以了解消费者目前对这些技术在研究中的理解和接受程度以及临床应用的可能性。我们试图通过改进的德尔菲研究设计，与医疗保健消费者进行互动，就以下方面的可接受性达成共识：（1）孕期使用的筛查工具，该工具可表明孩子患非传染性疾病的风险；（2）针对那些被确定为患非传染性疾病风险较高的人群，采用精准医学方法进行有针对性的早期干预。讨论了未来研究设计和实施的可接受性以及在常规医疗保健中实施的影响。此外，参与者被要求根据最近关于更好地让医疗保健消费者参与设定研究问题和确定优先领域的呼吁，对他们认为对精准医学研究重点最重要的非传染性疾病进行排序。
采用改进的两阶段德尔菲研究设计，包括一次面对面的消费者研讨会（第一阶段）和在线后续调查（第二阶段），以评估消费者对研发用于早期检测和潜在干预以降低非传染性疾病发病风险的精准医学工具的研究达成的共识。还讨论了研究设计和实施的可接受性以及新开发工具在常规医疗保健中实施的未来影响。
2020年，我们在澳大利亚新南威尔士州的亨特新英格兰地区邀请了76名医疗保健消费者。参与者是通过有目的的选择从现有的医疗保健消费者组织、研究项目和医疗保健网络中招募的，重点是具有广泛经验和背景的参与者，以确保有足够的代表性。
我们的研究结果表明，我们研究中的大多数参与者（98%）认为，只要公平且有明确的转诊和支持途径，对孩子进行非传染性疾病风险的早期筛查是可以接受的。
