■2020年10月,快速产前外显子组测序(pES)被引入英格兰的常规国家卫生服务(NHS)护理中,需要遗传学专家的护理协调,胎儿医学(FM)和实验室服务。这项混合方法研究探索了在NHS交付的前2年中参与提供pES服务的专业人员的经验。
■对医疗保健专业人员的调查(n=159)和半结构化访谈(n=63),包括临床遗传学家,FM专家,和临床科学家(仅限访谈)用于解决:1)对pES服务的看法;2)提供pES所涉及的能力和资源;3)意识,知识,和教育需求;和4)未来的抱负和目标。
■总的来说,专业人士对pES服务持积极态度,77%的人将其评为“好”或“优”。报告了一些好处,包括获得父母决策可操作结果的机会增加,提高基因组测试的公平性,并促进FM和遗传学部门之间的密切关系。尽管如此,有证据表明,在临床环境中提供pES的转变带来了一些挑战,例如额外的诊所时间,行政程序,在关于pES资格的决策中缺乏自主性,并且难以与周围的产妇单位接触。人们还对非遗传学专业人员-特别是助产士-缺乏信心和基因组学知识的差距表示关注。然而,这些发现也强调了这两个FM的价值,产科和遗传学专业人员受益于进一步的培训,重点是识别和管理产前诊断的遗传条件。
■医疗保健专业人员对pES的好处充满热情,通过多方合作,发展了有助于跨专业有效沟通的关系。尽管资源的限制和有关pES的知识的变化影响了服务的提供,专业人士希望改善基础设施和提高参与该途径的所有专业人员的技能将优化pES对父母和专业人员的好处。
UNASSIGNED: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS.
UNASSIGNED: A survey (n = 159) and semi-structured interviews (n = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future.
UNASSIGNED: Overall, professionals were positive about the pES service with 77% rating it as Good or Excellent. A number of benefits were reported, including the increased opportunity for receiving actionable results for parental decision-making, improving equity of access to genomic tests and fostering close relationships between FM and genetics departments. Nonetheless, there was evidence that the shift to offering pES in a clinical setting had brought some challenges, such as additional clinic time, administrative processes, perceived lack of autonomy in decision-making regarding pES eligibility and difficulty engaging with peripheral maternity units. Concerns were also raised about the lack of confidence and gaps in genomics knowledge amongst non-genetics professionals - especially midwives. However, the findings also highlighted value in both FM, obstetric and genetics professionals benefiting from further training with a focus on recognising and managing prenatally diagnosed genetic conditions.
UNASSIGNED: Healthcare professionals are enthusiastic about the benefits of pES, and through multi-collaborative working, have developed relationships that have contributed to effective communication across specialisms. Although limitations on resources and variation in knowledge about pES have impacted service delivery, professionals were hopeful that improvements to infrastructure and the upskilling of all professionals involved in the pathway would optimise the benefits of pES for both parents and professionals.