Abstract
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.
Highlights
Individuals at increased risk of breast and ovarian cancer associated with pathogenic variants in BRCA1/2 account for up to 10% of breast cancer cases, 15% of ovarian cancer cases, and up to 20% of cases of high-grade serous ovarian cancer, the most aggressive subtype [1,2,3,4]
The study will first focus on assessing overarching issues that impact a traceback approach, including ethical and privacy concerns related to identifying individuals with a prior diagnosis of ovarian cancer and offering genetic testing to them and their family members
After identifying adult patients at KPNW and Kaiser Permanente Colorado (KPCO) with a prior diagnosis of ovarian cancer from 2008–2019 and who have not opted out of research activities, we will perform manual chart review on all patients to determine eligibility, including any prior diagnosis of a hereditary cancer syndrome and obtaining any prior genetic testing results, which are typically entered into the electronic health record (EHR) as scanned documents (Figure 1)
Summary
Individuals at increased risk of breast and ovarian cancer associated with pathogenic variants in BRCA1/2 account for up to 10% of breast cancer cases, 15% of ovarian cancer cases, and up to 20% of cases of high-grade serous ovarian cancer, the most aggressive subtype [1,2,3,4]. In 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences of the National Cancer Institute sponsored a workshop of experts to discuss a traceback testing approach to increase the identification of families at increased genetic risk for cancer [24] This approach addresses a missed opportunity by offering genetic testing to patients with a prior diagnosis of ovarian cancer who did not receive genetic testing, such as when their diagnosis preceded the development of recommendations for genetic counseling in all cases of ovarian cancer. Cancer (GRACE) study, which aims to assess the feasibility of using the tumor registry and pathology specimens for an ovarian cancer traceback approach
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