Kauffman Tia L, Prado Yolanda K, Reyes Ana A, Zepp Jamilyn M, Sawyer Jennifer, White Larissa Lee, Martucci Jessica, Salas Suzanne Bianca, Vertrees Sarah, Rope Alan F, Weinmann Sheila, Henrikson Nora B, Lee Sandra Soo-Jin, Feigelson Heather Spencer, Hunter Jessica Ezzell
Department of Translational and Applied Genomics, Kaiser Permanente Northwest, Center for Health Research, 3800 N. Interstate Ave., Portland, OR 97227, USA.
Institute for Health Research, Kaiser Permanente Colorado, 2550 S. Parker Road, Suite 200, Aurora, CO 80014, USA.
J Pers Med. 2021 Nov 13;11(11):1194. doi: 10.3390/jpm11111194.
Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased individuals, post-mortem genetic testing of pathology specimens allows surviving family members to receive important genetic risk information. The Genetic Risk Assessment in Ovarian Cancer (GRACE) study aims to address this significant healthcare gap using a "traceback testing" approach to identify individuals with a prior diagnosis of ovarian cancer and offer genetic risk information to them and their family members. This study will assess the potential ethical and privacy concerns related to an ovarian cancer traceback testing approach in the context of patients who are deceased, followed by implementation and evaluation of the feasibility of an ovarian cancer traceback testing approach using tumor registries and archived pathology tissue. Descriptive and statistical analyses will assess health system and patient characteristics associated with the availability of pathology tissue and compare the ability to contact and uptake of genetic testing between patients who are living and deceased. The results of this study will inform the implementation of future traceback programs.
目前的指南指出，基因检测适用于所有被诊断为卵巢癌的个体。先前被诊断为卵巢癌但未接受基因检测的个体，是识别携带遗传性高风险癌症变异个体的错失机会。对于已故个体，对病理标本进行死后基因检测可让在世的家庭成员获得重要的遗传风险信息。卵巢癌遗传风险评估（GRACE）研究旨在通过“追溯检测”方法来填补这一重大医疗缺口，以识别先前被诊断为卵巢癌的个体，并向他们及其家庭成员提供遗传风险信息。本研究将在已故患者的背景下评估与卵巢癌追溯检测方法相关的潜在伦理和隐私问题，随后使用肿瘤登记处和存档病理组织实施并评估卵巢癌追溯检测方法的可行性。描述性和统计分析将评估与病理组织可用性相关的卫生系统和患者特征，并比较在世患者和已故患者之间联系和接受基因检测的能力。本研究结果将为未来追溯项目的实施提供参考。
