Pedrazzani Carla, Ming Chang, Bürki Nicole, Caiata-Zufferey Maria, Chappuis Pierre O, Duquette Debra, Heinimann Karl, Heinzelmann-Schwarz Viola, Graffeo-Galbiati Rossella, Merajver Sofia D, Milliron Kara J, Monnerat Christian, Pagani Olivia, Rabaglio Manuela, Katapodi Maria C
Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland.
Women's Clinic, University Hospital Basel, 4031 Basel, Switzerland.
Cancers (Basel). 2021 Dec 13;13(24):6254. doi: 10.3390/cancers13246254.
Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.
研究遗传性乳腺癌和卵巢癌（HBOC）相关家庭的基因知识素养，有助于了解基因信息是如何从接受过基因咨询的个体传递给其高危亲属的。这项跨研究比较使用在美国和瑞士进行的三项连续研究≥10年收集的数据，从个体和家庭层面探究了基因知识素养。参与者主要是女性，为HBOC相关致病变异的高危携带者或确诊携带者，她们接受过基因咨询，且有≥1名未接受咨询的亲属。通过15个项目评估基因知识素养。在来自518个家庭的1933名个体中，38.5%接受过基因咨询，61.5%未接受过。尽管接受咨询的参与者基因知识素养较高，但一些风险因素仍未得到充分理解。在个体层面，基因知识素养与5年内接受过咨询、高等教育以及癌症家族史相关。在家庭层面，基因知识素养与接受咨询、高等教育以及癌症诊断相关。研究结果表明，在咨询过程中应强调特定的基因信息，而且即使在家庭内部分享了信息，高危亲属仍觉得对遗传性癌症风险了解不足。有必要增加高危个体获取基因信息的机会。
