Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.
School of Nursing, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.
Eur J Hum Genet. 2023 Aug;31(8):945-952. doi: 10.1038/s41431-022-01179-7. Epub 2022 Sep 5.
Genetic information can provide clinical benefits to families of palliative patients. However, integration of genetics into mainstream medicine has not focused on palliative populations. We explored the views and experiences of genetic health professionals in addressing genetics with palliative patients, and their families. We conducted an interpretive descriptive qualitative study with genetic counsellors and clinical geneticists using interviews and focus groups. Findings were generated using reflexive thematic analysis. Three themes were identified: (1) Focusing on the benefit to the family, (2) The discomfort of addressing genetics near end-of-life and (3) "It's always on the back-burner": Challenges to getting genetics on the palliative care agenda. Participants discussed the familial benefit of genetics in palliative care alongside the challenges when patients are near end-of-life. They perceived genetics as low priority for palliative care due to misunderstandings related to the value of genetic information. Acknowledging the challenges in the palliative care context, genetic health professionals want improved service leadership and awareness of the familial benefits of palliative genetic testing. Strong leadership to support genetic health professionals in addressing these barriers is needed for the benefits of genetic information to be realised.
遗传信息可以为姑息治疗患者的家属提供临床获益。然而，遗传学融入主流医学并未关注姑息治疗人群。我们探讨了遗传健康专业人员在与姑息治疗患者及其家属讨论遗传学问题方面的观点和经验。我们对遗传咨询师和临床遗传学家进行了一项解释性描述性定性研究，采用了访谈和焦点小组。使用反思性主题分析生成了研究结果。确定了三个主题：（1）关注家庭获益，（2）在生命末期讨论遗传学的不适，以及（3）“总是在次要位置”：将遗传学纳入姑息治疗议程的挑战。参与者讨论了姑息治疗中遗传学的家族获益，以及患者临终时面临的挑战。他们认为，由于与遗传信息价值相关的误解，遗传学对姑息治疗的优先级较低。遗传健康专业人员承认姑息治疗环境中的挑战，希望改善服务领导力，并认识到姑息性基因检测的家族获益。需要强有力的领导力来支持遗传健康专业人员解决这些障碍，才能实现遗传信息的获益。
