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

Garutti, M. et al. Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. Genes 14, 1025 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Samadder, N. J. et al. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncol. 7, 230–237 (2021).

Article  PubMed  Google Scholar 

Jahn, A. et al. Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers. Ann. Oncol. 33, 1186–1199 (2022).

Article  CAS  PubMed  Google Scholar 

Rahner, N. & Steinke, V. Hereditary cancer syndromes. Dtsch Arztebl Int. 105, 706–714 (2008).

PubMed  PubMed Central  Google Scholar 

Chiang, J. & Ngeow, J. The management of BRCA1 and BRCA2 carriers in Singapore. Chin. Clin. Oncol. 9, 62 (2020).

Google Scholar 

Villani, A. et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol. 17, 1295–1305 (2016).

Article  CAS  PubMed  Google Scholar 

Copson, E. R. et al. Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. Lancet Oncol. 19, 169–180 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dominguez-Valentin, M. et al. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. eClinicalMedicine 58, (2023), Available from: https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00086-X/fulltext.

George, R., Kovak, K. & Cox, S. L. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J. Genet Couns. 24, 388–399 (2015).

Article  PubMed  Google Scholar 

Daly, M. B. et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J. Natl Compr. Canc. Netw. 19, 77–102 (2021).

Article  CAS  PubMed  Google Scholar 

Courtney, E. et al. Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience. Fam. Cancer 17, 621–626 (2018).

Article  PubMed  Google Scholar 

Chiang, J., Shaw, T. & Ngeow, J. Understanding cancer predisposition in Singapore: What’s next. Singap. Med. J. 64, 37–44 (2023).

Article  Google Scholar 

Fisk Green, R. et al. Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). Healthcare 3, 830–837 (2015).

Article  PubMed Central  Google Scholar 

Sessa, C. et al. Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline✩. Ann. Oncol. 34, 33–47 (2023).

Article  CAS  PubMed  Google Scholar 

Chiang, J. et al. Predictive Testing for Tumor Predisposition Syndromes in Pediatric Relatives: An Asian Experience. Front. Pediatr. 8, 568528 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Bednar, E. M. et al. Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genet. Med. 22, 719–726 (2020).

Article  PubMed  Google Scholar 

Schneider, J. L. et al. Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews. Hereditary Cancer Clin. Pract. 16, 11 (2018).

Article  Google Scholar 

Li, S.-T. et al. Impact of subsidies on cancer genetic testing uptake in Singapore. J. Med. Genet. 54, 254–259 (2017).

Article  PubMed  Google Scholar 

Teppala, S. et al. A review of the cost-effectiveness of genetic testing for germline variants in familial cancer. J. Med. Econ. 26, 19–33 (2023).

Article  PubMed  Google Scholar 

Frey, M. K. et al. Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. J. Clin. Oncol. 40, 4129–4143 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Courtney, E. et al. Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. npj Genom. Med. 4, 1–7 (2019).

Article  CAS  Google Scholar 

Admin, A. An approach to genetic testing in patients with metastatic castration-resistant prostate cancer in Singapore - Annals Singapore, (2023) Available from: https://annals.edu.sg/an-approach-to-genetic-testing-in-patients-with-metastatic-castration-resistant-prostate-cancer-in-singapore/.

Caswell-Jin, J. L. et al. Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. J. Natl Cancer Inst. 111, 95–98 (2019).

Article  PubMed  Google Scholar 

Schmidlen, T. et al. Use of a chatbot to increase uptake of cascade genetic testing. J. Genet. Counsel. 31, 1219–1230 (2022).

Article  Google Scholar 

Tiller, J. M. et al. Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public. Eur. J. Hum. Genet. 32, 1–11 (2023).

Google Scholar 

Kristensen, N., Nymann, C. & Konradsen, H. Implementing research results in clinical practice- the experiences of healthcare professionals. BMC Health Serv. Res. 16, 48 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Proctor, E. et al. Outcomes for Implementation Research: Conceptual Distinctions, Measurement Challenges, and Research Agenda. Adm. Policy Ment. Health 38, 65–76 (2011).

Article  PubMed  Google Scholar 

Moullin, J. C. et al. Ten recommendations for using implementation frameworks in research and practice. Implementation Science. Communications 1, 42 (2020).

Google Scholar 

Prausnitz, S. et al. The implementation checklist: A pragmatic instrument for accelerating research-to-implementation cycles. Learn. Health Syst. 7, e10359 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Srinivasan, S. et al. Barriers and facilitators for cascade testing in genetic conditions: a systematic review. Eur. J. Hum. Genet. 28, 1631–1644 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Edlind, M. et al. Why effective interventions don’t work for all patients: exploring variation in response to a chronic disease management intervention. Med. Care 56, 719–726 (2018).

Article  PubMed  PubMed Central  Google Scholar 

Dilzell, K. et al. Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives. Fam. Cancer 13, 381–389 (2014).

Article  PubMed  Google Scholar 

Katz, S. J. et al. Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study. JCO Oncol. Pract. (2023). Available from: https://doi.org/10.1200/OP.22.00677?journalCode=op.

Garcia, C. et al. Mechanisms to increase cascade testing in hereditary breast and ovarian cancer: Impact of introducing standardized communication aids into genetic counseling. J. Obstet. Gynaecol. Res. 46, 1835–1841 (2020).

Article  PubMed  Google Scholar 

Menko, F. H. et al. Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation. J. Genet. Counsel. (2023). Available from: https://doi.org/10.1002/jgc4.1767.

Le, D. T. et al. PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N. Engl. J. Med. (2015). Available from: https://doi.org/10.1056/NEJMoa1500596.

Robson, M. et al. Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. N. Engl. J. Med. 377, 523–533 (2017).

Article  CAS  PubMed  Google Scholar 

Donenberg, T. et al. A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families. Breast Cancer Res. Treat. 174, 469–477 (2019).

Article  PubMed  Google Scholar 

Tone, A. A. et al. The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches. Gynecol. Oncol. 162, 97–106 (2021).

Article  PubMed  Google Scholar 

Sermijn, E. et al. The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. Fam. Cancer 15, 155–162 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Furniss, C. S. et al. Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study. Cancer Prev. Res. 14, 1021–1032 (2021).

Article  CAS  Google Scholar 

Schwartz, M. D. et al. Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J. Clin. Oncol. 32, 618–626 (2014).

Article  PubMed  PubMed Central  Google Scholar 

Telehealth Implementation Playbook overview. American Medical Association, 2024. Available from: https://www.ama-assn.org/practice-management/digital/telehealth-implementation-playbook-overview.

Moore, G. et al. Adapting interventions to new contexts-the ADAPT guidance. BMJ 374, n1679 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Prior, A. et al. Healthcare fragmentation, multimorbidity, potentially inappropriate medication, and mortality: a Danish nationwide cohort study. BMC Med. 21, 305 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Albertson, E. M. et al. Systematic

留言 (0)

沒有登入
gif