Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.
Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.
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DOI：
10.3390/jpm11111194
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发表时间：
2021-11-13
影响因子：
--
通讯作者：
Hunter JE
中科院分区：
文献类型：
--
作者：
Kauffman TL;Prado YK;Reyes AA;Zepp JM;Sawyer J;White LL;Martucci J;Salas SB;Vertrees S;Rope AF;Weinmann S;Henrikson NB;Lee SS;Feigelson HS;Hunter JE
目前的指南指出，基因检测是临床上适用于所有诊断为卵巢癌的个体。先前诊断为卵巢癌但未接受基因检测的个体代表错过了识别具有遗传性高风险癌症变体的个体的机会。对于死亡的个人，病理标本的死后基因检测使幸存的家庭成员能够获得重要的遗传风险信息。卵巢癌遗传风险评估（GRACE）研究旨在利用“回溯测试”方法来确定先前诊断为卵巢癌的个体，并为他们及其家庭成员提供遗传风险信息，以解决这一重大的医疗保健差距。本研究将评估在死亡患者的背景下与卵巢癌追溯测试方法相关的潜在伦理和隐私问题，然后使用肿瘤登记和存档的病理组织实施和评估卵巢癌追溯测试方法的可行性。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，并比较在世和已故患者之间接触和接受基因检测的能力。这项研究的结果将为未来追溯计划的实施提供信息。
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.
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影响因子：
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作者：
Mafficini A;Simbolo M;Parisi A;Rusev B;Luchini C;Cataldo I;Piazzola E;Sperandio N;Turri G;Franchi M;Tortora G;Bovo C;Lawlor RT;Scarpa A
通讯作者：
Scarpa A
影响因子：
--
作者：
Enyedi MZ;Jaksa G;Pintér L;Sükösd F;Gyuris Z;Hajdu A;Határvölgyi E;Priskin K;Haracska L
通讯作者：
Haracska L
影响因子：
3.4
作者：
Clayton, Ellen Wright;Evans, Barbara J.;Rothstein, Mark A.
通讯作者：
Rothstein, Mark A.
DOI：
10.1002/ajmg.c.10005
发表时间：
2003-05-15
影响因子：
3.1
作者：
Dugan, RB;Wiesner, GL;Robin, NH
通讯作者：
Robin, NH
影响因子：
28.4
作者：
Couch FJ;Shimelis H;Hu C;Hart SN;Polley EC;Na J;Hallberg E;Moore R;Thomas A;Lilyquist J;Feng B;McFarland R;Pesaran T;Huether R;LaDuca H;Chao EC;Goldgar DE;Dolinsky JS
通讯作者：
Dolinsky JS