Clinical implementation of an oncology‐specific family health history risk assessment tool

Hereditary Cancer in Clinical Practice

Si Ming Fung¹  Joanne Ngeow²  Rachel A. Myers³  Lori A. Orlando⁴  Geoffrey S. Ginsburg⁴  R. Ryanne Wu⁵  David Matchar⁶  Jasper Goh⁷ 

[1] Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore;Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore;Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore;Centre for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, 304 Research Dr. Box 90141, Office 264, 27708, Durham, North Carolina, USA;Centre for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, 304 Research Dr. Box 90141, Office 264, 27708, Durham, North Carolina, USA;Department of Medicine, Duke University School of Medicine, 304 Research Dr. Box 90141, Office 264, 27708, Durham, North Carolina, USA;Centre for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, 304 Research Dr. Box 90141, Office 264, 27708, Durham, North Carolina, USA;Department of Medicine, Duke University School of Medicine, 304 Research Dr. Box 90141, Office 264, 27708, Durham, North Carolina, USA;Program in Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore;Department of Medicine, Duke University School of Medicine, 304 Research Dr. Box 90141, Office 264, 27708, Durham, North Carolina, USA;Program in Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore;Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore;

关键词: Genetic counselling;    Hereditary cancer syndromes;    Family history;    Risk assessment;    Referral;   

DOI  :  10.1186/s13053-021-00177-y

来源: Springer

【 摘 要 】

BackgroundThe presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of hereditary cancer syndromes in routine practice. This paper describes the impact of using a patient-facing family health history risk assessment platform on the identification and referral of breast cancer patients to genetic counselling services.MethodsThis was a hybrid implementation-effectiveness study completed in breast cancer clinics. English-literate patients not previously referred for genetic counselling and/or gone through genetic testing were offered enrollment. Consented participants were provided educational materials on family health history collection, entered their family health history into the platform and completed a satisfaction survey. Upon completion, participants and their clinicians were given personalized risk reports. Chart abstraction was done to identify actions taken by patients, providers and genetic counsellors.ResultsOf 195 patients approached, 102 consented and completed the study (mean age 55.7, 100 % women). Sixty-six (65 %) met guideline criteria for genetic counseling of which 24 (36 %) were referred for genetic counseling. Of those referred, 13 (54 %) participants attended and eight (33 %) completed genetic testing. On multivariate logistic regression, referral was not associated with age, cancer stage, or race but was associated with clinical provider (p = 0.041). Most providers (71 %) had higher referral rates during the study compared to prior. The majority of participants found the experience useful (84 %), were more aware of their health risks (83 %), and were likely to recommend using a patient-facing platform to others (69 %).Conclusions65 % of patients attending breast cancer clinics in this study are at-risk for hereditary conditions based on current guidelines. Using a patient-facing risk assessment platform enhances the ability to identify these patients systematically and with widespread acceptability and recognized value by patients. As only a third of at-risk participants received referrals for genetic counseling, further understanding barriers to referral is needed to optimize hereditary risk assessment in oncology practices.Trial RegistrationNIH Clinical Trials registry, NCT04639934. Registered Nov 23, 2020 -- Retrospectively registered.

【 授权许可】

CC BY