School of Public Health, The University of Sydney, Sydney, New South Wales, Australia
Centre for Kidney Research, Westmead Hospital, Westmead, New South Wales, Australia.
BMJ Open. 2020 Oct 10;10(10):e038005. doi: 10.1136/bmjopen-2020-038005.
Presymptomatic testing is available for early diagnosis of hereditary autosomal dominant polycystic kidney disease (ADPKD). However, the complex ethical and psychosocial implications can make decision-making challenging and require an understanding of patients' values, goals and priorities. This study aims to describe patient and caregiver beliefs and expectations regarding presymptomatic testing for ADPKD.
DESIGN, SETTING AND PARTICIPANTS: 154 participants (120 patients and 34 caregivers) aged 18 years and over from eight centres in Australia, France and Korea participated in 17 focus groups. Transcripts were analysed thematically.
We identified five themes: (insecurity in the inability to obtain life insurance, limited work opportunities, financial burden); (erratic and diverse manifestations of disease limiting utility, taking preventive actions in vain, daunted by perplexity of results, unaware of risk of inheriting ADPKD); (overwhelmed by ambiguous information, medicalising family planning, family pressures); (gaining confidence in early detection, allowing preparation for the future, reassurance in family resilience); and (reassured by lack of symptoms, judging value of life with ADPKD).
For patients with ADPKD, presymptomatic testing provides an opportunity to take ownership of their health through family planning and preventive measures. However, these decisions can be wrought with tensions and uncertainty about prognostic implications, and the psychosocial and financial burden of testing. Healthcare professionals should focus on genetic counselling, mental health and providing education to patients' families to support informed decision-making. Policymakers should consider the cost burden and risk of discrimination when informing government policies. Finally, patients are recommended to focus on self-care from an early age.
遗传性常染色体显性多囊肾病（ADPKD）可进行症状前检测以实现早期诊断。然而，复杂的伦理和心理社会问题会使决策变得具有挑战性，并且需要了解患者的价值观、目标和优先事项。本研究旨在描述患者和照护者对 ADPKD 症状前检测的信念和期望。
设计、地点和参与者：来自澳大利亚、法国和韩国的 8 个中心的 154 名参与者（120 名患者和 34 名照护者）年龄在 18 岁及以上，参与了 17 个焦点小组。对转录本进行了主题分析。
我们确定了五个主题：（无法获得医疗保险、工作机会有限、经济负担导致的不安定感）；（疾病表现不稳定且多样，预防措施无效，对结果的困惑感到沮丧，不知道遗传 ADPKD 的风险）；（被模糊信息淹没，将家庭计划医学化，家庭压力）；（对早期检测充满信心，为未来做好准备，对家庭韧性感到安心）；（无症状使患者感到安心，用 ADPKD 评估生命的价值）。
对于 ADPKD 患者，症状前检测为通过家庭计划和预防措施掌控自己的健康提供了机会。然而，这些决策可能会因预后影响的紧张和不确定性，以及检测的心理社会和经济负担而变得复杂。医疗保健专业人员应专注于遗传咨询、心理健康和为患者家属提供教育，以支持知情决策。政策制定者在制定政府政策时应考虑成本负担和歧视风险。最后，建议患者从早期开始注重自我护理。
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