Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

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...

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Autores principales: Tia L. Kauffman, Yolanda K. Prado, Ana A. Reyes, Jamilyn M. Zepp, Jennifer Sawyer, Larissa Lee White, Jessica Martucci, Suzanne Bianca Salas, Sarah Vertrees, Alan F. Rope, Sheila Weinmann, Nora B. Henrikson, Sandra Soo-Jin Lee, Heather Spencer Feigelson, Jessica Ezzell Hunter
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Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/dd6940c5a01a418ead4edf9bdb1cd92c
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spelling oai:doaj.org-article:dd6940c5a01a418ead4edf9bdb1cd92c2021-11-25T18:07:55ZFeasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol10.3390/jpm111111942075-4426https://doaj.org/article/dd6940c5a01a418ead4edf9bdb1cd92c2021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4426/11/11/1194https://doaj.org/toc/2075-4426Guidelines 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.Tia L. KauffmanYolanda K. PradoAna A. ReyesJamilyn M. ZeppJennifer SawyerLarissa Lee WhiteJessica MartucciSuzanne Bianca SalasSarah VertreesAlan F. RopeSheila WeinmannNora B. HenriksonSandra Soo-Jin LeeHeather Spencer FeigelsonJessica Ezzell HunterMDPI AGarticleovarian cancertraceback testingcascade testingpost-mortem genetic testingpathologyhereditary breastMedicineRENJournal of Personalized Medicine, Vol 11, Iss 1194, p 1194 (2021)
institution DOAJ
collection DOAJ
language EN
topic ovarian cancer
traceback testing
cascade testing
post-mortem genetic testing
pathology
hereditary breast
Medicine
R
spellingShingle ovarian cancer
traceback testing
cascade testing
post-mortem genetic testing
pathology
hereditary breast
Medicine
R
Tia L. Kauffman
Yolanda K. Prado
Ana A. Reyes
Jamilyn M. Zepp
Jennifer Sawyer
Larissa Lee White
Jessica Martucci
Suzanne Bianca Salas
Sarah Vertrees
Alan F. Rope
Sheila Weinmann
Nora B. Henrikson
Sandra Soo-Jin Lee
Heather Spencer Feigelson
Jessica Ezzell Hunter
Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
description 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.
format article
author Tia L. Kauffman
Yolanda K. Prado
Ana A. Reyes
Jamilyn M. Zepp
Jennifer Sawyer
Larissa Lee White
Jessica Martucci
Suzanne Bianca Salas
Sarah Vertrees
Alan F. Rope
Sheila Weinmann
Nora B. Henrikson
Sandra Soo-Jin Lee
Heather Spencer Feigelson
Jessica Ezzell Hunter
author_facet Tia L. Kauffman
Yolanda K. Prado
Ana A. Reyes
Jamilyn M. Zepp
Jennifer Sawyer
Larissa Lee White
Jessica Martucci
Suzanne Bianca Salas
Sarah Vertrees
Alan F. Rope
Sheila Weinmann
Nora B. Henrikson
Sandra Soo-Jin Lee
Heather Spencer Feigelson
Jessica Ezzell Hunter
author_sort Tia L. Kauffman
title Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
title_short Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
title_full Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
title_fullStr Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
title_full_unstemmed Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
title_sort feasibility of a traceback approach for using pathology specimens to facilitate genetic testing in the genetic risk analysis in ovarian cancer (grace) study protocol
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/dd6940c5a01a418ead4edf9bdb1cd92c
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