Bonini Katherine E, Desrosiers-Battu Lauren R, Foreman Ann Katherine M, Sahin-Hodoglugil Nuriye N, Majumder Mary A, Finnila Candice R, Kraft Stephanie A, Amendola Laura M, Kenny Eimear E, Fullerton Stephanie M, Ackerman Sara L, Wilfond Benjamin S, McGuire Amy L, Smith Hadley Stevens
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.
Genet Med Open. 2025 Jun 24;3:103440. doi: 10.1016/j.gimo.2025.103440. eCollection 2025.
Genetic results are important for both patients and their biological relatives. However, cascade screening (CS) uptake is low, especially when testing occurs through research programs and not clinical care. Ethical guidance is needed for CS implementation when individuals receive clinical genetic results through research.
We conducted focus groups with 3 groups of individuals in the Clinical Sequencing Evidence-Generating Research Consortium: clinicians, patient representatives, and scholars of the ethical, legal, and social implications of genomics. We used inductive thematic and comparative analyses to analyze data within and across the groups.
All participants ( = 27) agreed that researchers have an obligation to provide resources to participants about CS and generally felt that answering genetics-related questions from participants' relatives was appropriate. However, there was disagreement regarding whether studies are obliged to fund genetic testing for relatives. Participants' rationales were rooted in attitudes about the clinical-research interface, influences on research enrollment, inclusion of underrepresented communities, and appropriate stewardship of funds.
Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions between research and clinical care are often blurred, is needed.
基因检测结果对患者及其生物学亲属都很重要。然而，级联筛查（CS）的接受度较低，尤其是当检测通过研究项目而非临床护理进行时。当个体通过研究获得临床基因检测结果时，CS实施需要伦理指导。
我们在临床测序证据生成研究联盟中与三组人员进行了焦点小组讨论：临床医生、患者代表以及基因组学伦理、法律和社会影响方面的学者。我们使用归纳主题分析和比较分析来分析组内和组间的数据。
所有参与者（n = 27）都认为研究人员有义务向参与者提供有关CS的资源，并且普遍认为回答参与者亲属的遗传学相关问题是合适的。然而，对于研究是否有义务为亲属的基因检测提供资金存在分歧。参与者的理由基于对临床研究界面的态度、对研究入组的影响、对代表性不足社区的纳入以及资金的合理管理。
在考虑跨越研究和临床环境的CS时，会出现伦理紧张关系和后勤障碍。需要对亲属检测的适当性和可行性进行更多研究，尤其是在研究和临床护理区分往往模糊的基因组学领域。
