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

Kauffman, Tia L.; Prado, Yolanda K; Reyes, Ana Aurora Maldonado; Zepp, Jamilyn; Sawyer, Jennifer; White, Larissa; Martucci, Jessica; Salas, S Bianca; Vertrees, Sarah; Rope, Alan F.; Weinmann, Sheila; Henrikson, Nora B.; Lee, Sandra Soo‐Jin; Feigelson, Heather Spencer; Hunter, Jessica Ezzell

doi:10.3390/jpm11111194

Cited by 4 publications

(4 citation statements)

References 41 publications

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“…Tracing back individuals with history of BC who had missed the opportunity to undergo genetic testing to diagnose P/LP variants, is a feasible and effective method that can provide actionable information for both patients and their relatives, and guide personalized treatment decisions and preventative measures, even after long overdue genetic referral. P/LP rates were found to be comparable to the rate of P/LP in upfront testing for eligible breast cancer patients in our country 52 .…”

Section: Discussionsupporting

confidence: 64%

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach

Abdel-Razeq,

Tamimi,

Iweir

et al. 2024

Sci Rep

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Genetic counseling and testing are more accessible than ever due to reduced costs, expanding indications and public awareness. Nonetheless, many patients missed the opportunity of genetic counseling and testing due to barriers that existed at that time of their cancer diagnoses. Given the identified implications of pathogenic mutations on patients’ treatment and familial outcomes, an opportunity exists to utilize a ‘traceback’ approach to retrospectively examine their genetic makeup and provide consequent insights to their disease and treatment. In this study, we identified living patients diagnosed with breast cancer (BC) between July 2007 and January 2022 who would have been eligible for testing, but not tested. Overall, 422 patients met the eligibility criteria, 282 were reached and invited to participate, and germline testing was performed for 238, accounting for 84.4% of those invited. The median age (range) was 39.5 (24–64) years at BC diagnosis and 49 (31–75) years at the date of testing. Genetic testing revealed that 25 (10.5%) patients had pathogenic/likely pathogenic (P/LP) variants; mostly in BRCA2 and BRCA1. We concluded that long overdue genetic referral through a traceback approach is feasible and effective to diagnose P/LP variants in patients with history of BC who had missed the opportunity of genetic testing, with potential clinical implications for patients and their relatives.

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Section: Discussionsupporting

confidence: 64%

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach

Abdel-Razeq,

Tamimi,

Iweir

et al. 2024

Sci Rep

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“…An evaluation of the proband-mediated procedure. The Netherlands Retrospective study, 239 Hereditary breast and ovarian cancer Guideline containing recommendations regarding proband-mediated procedure Kassem 74 Racial Disparities in Family Variant Testing for Cancer Predisposition Genes USA Retrospective study, 3872 Not specified Cascade testing at no-charge Kauffman 75 Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol USA Prospective cohort study, N/A Ovarian cancer Traceback approach for using pathology specimens N/A not applicable. …”

Section: Resultsmentioning

confidence: 99%

“…Phase II (after 6 months) - letter sent to ARR Phase III - phone call to obtain a final decision. 97.8 – Kauffman 75 Traceback approach by using pathology specimens to identify patients with ovarian cancer and offering genetic testing to them and ARR – – Frey 62 Information and communication technology (ICT) Direct telephone contact of ARR by the genetics team, with telephone genetic counseling. Mailed saliva kit for genetic testing was provided free of charge.…”

Section: Resultsmentioning

confidence: 99%

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review

Chiang,

Chua,

Chan

et al. 2024

npj Genom. Med.

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Hereditary cancer syndromes constitute approximately 10% of all cancers. Cascade testing involves testing of at-risk relatives to determine if they carry the familial pathogenic variant. Despite growing efforts targeted at improving cascade testing uptake, current literature continues to reflect poor rates of uptake, typically below 30%. This study aims to systematically review current literature on intervention strategies to improve cascade testing, assess the quality of intervention descriptions and evaluate the implementation outcomes of listed interventions. We searched major databases using keywords and subject heading of “cascade testing”. Interventions proposed in each study were classified according to the Effective Practice and Organization of Care (EPOC) taxonomy. Quality of intervention description was assessed using the TIDieR checklist, and evaluation of implementation outcomes was performed using Proctor’s Implementation Outcomes Framework. Improvements in rates of genetic testing uptake was seen in interventions across the different EPOC taxonomy strategies. The average TIDieR score was 7.3 out of 12. Items least reported include modifications (18.5%), plans to assess fidelity/adherence (7.4%) and actual assessment of fidelity/adherence (7.4%). An average of 2.9 out of 8 aspects of implementation outcomes were examined. The most poorly reported outcomes were cost, fidelity and sustainability, with only 3.7% of studies reporting them. Most interventions have demonstrated success in improving cascade testing uptake. Uptake of cascade testing was highest with delivery arrangement (68%). However, the quality of description of interventions and assessment of implementation outcomes are often suboptimal, hindering their replication and implementation downstream. Therefore, further adoption of standardized guidelines in reporting of interventions and formal assessment of implementation outcomes may help promote translation of these interventions into routine practice.

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“…In order to realize this shift, we may need to establish new legal and ethical pathways for traceback testing from millions of patient records and archived biological samples to the testing and care of those at-risk individuals who will benefit from it most. 90…”

Section: A Fourth Option? -Learning Healthcare Systemsmentioning

confidence: 99%

An Examination of the Ethical and Legal Limits in Implementing “Traceback Testing” for Deceased Patients

Martucci

Prado

Rope

et al. 2022

J. Law. Med. Ethics

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This paper examines the legal and ethical aspects of traceback testing, a process in which patients who have been previously diagnosed with ovarian cancer are identified and offered genetic testing so that their family members can be informed of their genetic risk and can also choose to undergo testing. Specifically, this analysis examines the ethical and legal limits in implementing traceback testing in cases when the patient is deceased and can no longer consent to genetic testing.

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

Cited by 4 publications

References 41 publications

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review

An Examination of the Ethical and Legal Limits in Implementing “Traceback Testing” for Deceased Patients

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