Ong Serene, Chua Zi Yang, Yuen Jeanette, Chiang Jianbang, Zewen Zhang, Ngeow Joanne, Lysaght Tamra
Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
Fam Cancer. 2025 Feb 26;24(1):25. doi: 10.1007/s10689-025-00450-2.
Cascade testing is often recommended for cancer predisposition syndromes, like Lynch syndrome (LS), to identify at-risk family members. The uptake of cascade testing is typically meditated by the proband's willingness to disclose their results with family members. Of which, cascade testing uptake rates in Singapore has been low, compared to global rates. Studies suggest that healthcare providers (HCPs)-meditated contact of at-risk family improves uptake, yet few have explored how receptive probands and family members are to such a model. Moreover, no studies to date have examined such a model of cascade testing in Asia. To address this gap, we interviewed 17 participants (probands and relatives) in Singapore to evaluate the acceptability and feasibility of HCP-mediated cascade testing for families with LS. Our findings show broad acceptability for HCP-mediated disclosure to relatives, driven by a sense of beneficence. However, HCP involvement introduced three unique issues to disclosure process: (i) their clinical position, which conveys expertise and authority; (ii) relational complexities within family dynamics; and (iii) the notion of family-centric privacy. We propose that HCP-mediated disclosure may be best implemented through a cooperative and flexible process, tailored to each family's unique circumstances. This approach balances the efficiency of providing accurate genetic information whilst sensitively navigating familial relationships, thereby improving uptake while respecting cultural and relational nuances.
对于癌症易感综合征，如林奇综合征（LS），通常建议进行级联检测，以识别有风险的家庭成员。级联检测的接受程度通常取决于先证者向家庭成员披露其检测结果的意愿。其中，与全球比率相比，新加坡的级联检测接受率一直较低。研究表明，医疗保健提供者（HCPs）与有风险的家庭成员进行沟通可提高接受率，但很少有人探讨先证者和家庭成员对这种模式的接受程度。此外，迄今为止，尚无研究在亚洲考察这种级联检测模式。为了填补这一空白，我们采访了新加坡的17名参与者（先证者和亲属），以评估HCP介导的针对LS家庭的级联检测的可接受性和可行性。我们的研究结果表明，出于慈善意识，HCP介导向亲属披露信息具有广泛的可接受性。然而，HCP的参与给披露过程带来了三个独特的问题：（i）他们的临床地位，这传达了专业知识和权威；（ii）家庭动态中的关系复杂性；以及（iii）以家庭为中心的隐私观念。我们建议，HCP介导的披露可能最好通过一个合作且灵活的过程来实施，该过程应根据每个家庭的独特情况量身定制。这种方法在提供准确遗传信息的效率与敏感处理家庭关系之间取得平衡，从而在尊重文化和关系细微差别的同时提高接受率。
