The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.
Department of Pediatrics, The University of Texas Medical Branch, Galveston, TX, USA.
Support Care Cancer. 2022 Jun;30(6):5481-5489. doi: 10.1007/s00520-022-06974-y. Epub 2022 Mar 19.
Adolescent and young adult (AYA) cancer patients face challenges when navigating cancer treatment and survivorship. Many are at risk for cancer predisposition syndromes; however, factors influencing pursuit of genetic counseling and testing have not been reported. We describe AYA cancer patients' decision-making process, including motivational factors and barriers, as it relates to utilization of genetic services.
Thirty AYAs diagnosed with cancer previously referred for cancer predisposition genetic counseling completed semi-structured interviews via audio-only Zoom calls. Thematic analysis was used to perform qualitative analysis and identify major themes.
The sample comprised 21 AYAs who had genetic counseling and nine who did not. Motivational factors identified included learning genetic counseling is an available service, concern about the impact of a hereditary syndrome on family members and family planning, learning about the need for cancer screening or prevention, affordability of genetic testing, and easing worry about additional cancer risks. For those who did not pursue genetic counseling, barriers included scheduling or other priorities, worry, and cost. However, the majority expressed they would reconsider genetic counseling in the future.
AYA cancer patients have similar motivational factors to pursue genetic counseling compared to other patients; however, their younger age of diagnosis may alter how these factors affect decision-making. While there are barriers limiting access to genetic services, they did not decrease interest in future genetic counseling for most patients. Genetic counseling and testing should be discussed with patients who previously declined genetic services.
青少年和年轻成人（AYA）癌症患者在接受癌症治疗和生存护理时面临挑战。许多人存在癌症易感综合征的风险；然而，影响他们寻求遗传咨询和检测的因素尚未报道。我们描述了 AYA 癌症患者的决策过程，包括与利用遗传服务相关的动机因素和障碍。
30 名先前被推荐进行癌症易感性遗传咨询的 AYA 癌症患者通过音频 Zoom 电话完成了半结构化访谈。采用主题分析进行定性分析并确定主要主题。
样本包括 21 名接受过遗传咨询的 AYA 和 9 名未接受过遗传咨询的 AYA。确定的动机因素包括了解遗传咨询是一项可用的服务、对遗传性综合征对家庭成员和家庭计划的影响的关注、了解癌症筛查或预防的必要性、遗传检测的可负担性，以及减轻对额外癌症风险的担忧。对于那些未寻求遗传咨询的人来说，障碍包括日程安排或其他优先事项、担忧和费用。然而，大多数人表示他们将来会重新考虑遗传咨询。
与其他患者相比，AYA 癌症患者具有相似的寻求遗传咨询的动机因素；然而，他们较年轻的诊断年龄可能会改变这些因素对决策的影响。尽管存在限制获得遗传服务的障碍，但对于大多数患者来说，这些障碍并没有降低他们对未来遗传咨询的兴趣。应该与之前拒绝遗传服务的患者讨论遗传咨询和检测。
