Shah Ibrahim H, Salo-Mullen Erin E, Amoroso Kimberly A, Kelsen David, Stadler Zsofia K, Hamilton Jada G
Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Hered Cancer Clin Pract. 2022 Sep 2;20(1):31. doi: 10.1186/s13053-022-00239-9.
Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage HDGC is difficult, and prophylactic measures can be effective in preventing incidence. Preimplantation Genetic Testing (PGT) can provide information about CDH1 variant status, HDGC risk, and limit familial transmission of CDH1 variants. To date, however, little is known about the attitudes of individuals with CDH1 variants towards PGT.
Given that little is known about the reproductive attitudes of individuals with HDGC, we recruited participants with CDH1 variants from a familial gastric cancer registry and administered a cross-sectional survey with open- and closed-ended response items. We assessed attitudes regarding PGT and the effect of HDGC on quality of life.
Participants (n = 21) were predominantly partnered (61.9%), had a personal cancer history (71.4%), and had biological children (71.4%). Interest in learning about PGT was high; 66.7% of participants were interested in PGT and 90.5% approved of healthcare providers discussing PGT with individuals with CDH1 variants. Attitudes regarding personal use were varied. Among all participants, 35% would not, 25% were uncertain, and 40% would use PGT. Personal philosophy and preferences for family and reproduction were key factors related to PGT attitudes. HDGC had moderate effects on participants' quality of life, including social relationships, health behaviors, and emotional experiences including worry about cancer risk and guilt regarding familial implications.
PGT was identified by participants as acceptable for use in a variety of contexts and benefits of reproductive counseling involving PGT may extend beyond CDH1 carriers to family members' reproductive behaviors. Dispositions towards PGT are governed by personal philosophy or belief systems. These findings can help guide providers counseling individuals with CDH1 variants.
遗传性弥漫性胃癌（HDGC）综合征是一种常染色体显性遗传性癌症易感性疾病，与CDH1基因的种系致病性/可能致病性变异相关。早期HDGC的识别较为困难，预防性措施在预防发病方面可能有效。植入前基因检测（PGT）可以提供有关CDH1变异状态、HDGC风险的信息，并限制CDH1变异的家族性传播。然而，迄今为止，对于携带CDH1变异的个体对PGT的态度知之甚少。
鉴于对HDGC个体的生殖态度了解甚少，我们从一个家族性胃癌登记处招募了携带CDH1变异的参与者，并进行了一项包含开放式和封闭式回答项目的横断面调查。我们评估了对PGT的态度以及HDGC对生活质量的影响。
参与者（n = 21）大多处于伴侣关系（61.9%），有个人癌症病史（71.4%），并有亲生孩子（71.4%）。对了解PGT的兴趣很高；66.7%的参与者对PGT感兴趣，90.5%的参与者赞成医疗保健提供者与携带CDH1变异的个体讨论PGT。对个人使用PGT的态度各不相同。在所有参与者中，35%不会使用，25%不确定，40%会使用PGT。个人理念以及对家庭和生育的偏好是与PGT态度相关的关键因素。HDGC对参与者的生活质量有中度影响，包括社会关系、健康行为以及情绪体验，如对癌症风险的担忧和对家族影响的愧疚感。
参与者认为PGT在各种情况下都是可以接受的，涉及PGT的生殖咨询的益处可能不仅限于CDH1携带者，还会延伸至家庭成员的生殖行为。对PGT的倾向受个人理念或信仰体系的支配。这些发现有助于指导医疗保健提供者为携带CDH1变异的个体提供咨询。
