Does the Diagnosis of Breast or Ovarian Cancer Trigger Referral to Genetic Counseling?

Powell, C. Bethan; Littell, Ramey D.; Hoodfar, Elizabeth; Sinclair, Fiona; Pressman, Alice

doi:10.1097/igc.0b013e318280f2b4

Cited by 54 publications

(31 citation statements)

References 21 publications

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“…Using this criterion, we found, as have others, that there are discrepancies between physicians' risk estimates and guideline-derived risk estimates in both directions (i.e., overestimation and underestimation). [26][27][28][29] Underestimation was most pronounced in the group at risk for hereditary cancer syndromes and was also evident among the 76 participants <50 years of age who should have started colonoscopies early but had not. This is not surprising given the well-documented barriers to collecting and synthesizing family health history.…”

Section: Discussionmentioning

confidence: 99%

Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Orlando

Myers

et al. 2016

Genetics in Medicine

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Purpose: Risk-stratified guidelines can improve quality of care and cost-effectiveness, but their uptake in primary care has been limited. MeTree, a Web-based, patient-facing risk-assessment and clinical decision support tool, is designed to facilitate uptake of risk-stratified guidelines. Methods:A hybrid implementation-effectiveness trial of three clinics (two intervention, one control). Participants: consentable nonadopted adults with upcoming appointments. Primary outcome: agreement between patient risk level and risk management for those meeting evidence-based criteria for increased-risk risk-management strategies (increased risk) and those who do not (average risk) before MeTree and after. Measures: chart abstraction was used to identify risk management related to colon, breast, and ovarian cancer, hereditary cancer, and thrombosis.Results: Participants = 488, female = 284 (58.2%), white = 411 (85.7%), mean age = 58.7 (SD = 12.3). Agreement between risk management and risk level for all conditions for each participant, except for colon cancer, which was limited to those <50 years of age, was (i) 1.1% (N = 2/174) for the increased-risk group before MeTree and 16.1% (N = 28/174) after and (ii) 99.2% (N = 2,125/2,142) for the average-risk group before MeTree and 99.5% (N = 2,131/2,142) after. Of those receiving increased-risk risk-management strategies at baseline, 10.5% (N = 2/19) met criteria for increased risk. After MeTree, 80.7% (N = 46/57) met criteria. Conclusion:MeTree integration into primary care can improve uptake of risk-stratified guidelines and potentially reduce "overuse" and "underuse" of increased-risk services.

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Section: Discussionmentioning

confidence: 99%

Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Orlando

Myers

et al. 2016

Genetics in Medicine

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“…Findings from high-resource countries such as the USA, UK and Australia also showed great variations in genetic testing uptake rates between different studies, ranging from 25 to 96% [13,14], and uptake in primary care is variable. In Asia, the shared view among the ABRCA groups is that disparities in access to genetic counselling and genetic testing are largely attributable to the lack of access to appropriately trained laboratory and healthcare professionals, and lack of funding for laboratory and clinical services, which leads to particularly large disparities when combined with limited regulatory framework for genetic testing laboratory accreditation and prevention of genetic discrimination, and Asian socio-cultural beliefs of families and genetics.…”

Section: Discussionmentioning

confidence: 99%

Current Status of the Management of Hereditary Breast and Ovarian Cancer in Asia: First Report by the Asian BRCA Consortium

Nakamura

Kwong²,

Kim³

et al. 2015

Public Health Genomics

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Background:BRCA1/BRCA2 mutations are associated with an increased lifetime risk for hereditary breast and ovarian cancer (HBOC). Compared with the Western developed countries, genetic testing and risk assessment for HBOC in Asia are less available, thus prohibiting the appropriate surveillance, clinical strategies and cancer management. Methods: The current status of HBOC management in 14 Asian countries, including genetic counselling/testing uptakes and clinical management options, was reviewed. We analysed how economic factors, healthcare and legal frameworks, and cultural issues affect the genetic service availability in Asia. Results: In 2012, only an estimated 4,000 breast cancer cases from 14 Asian countries have benefited from genetic services. Genetic testing costs and the absence of their adoption into national healthcare systems are the main economic barriers for approaching genetic services. Training programmes, regional accredited laboratories and healthcare professionals are not readily available in most of the studied countries. A lack of legal frameworks against genetic discrimination and a lack of public awareness of cancer risk assessment also provide challenges to HBOC management in Asia. Conclusions: The Asian BRCA Consortium reports the current disparities in genetic services for HBOC in Asia and urges the policy makers, healthcare sectors and researchers to address the limitations in HBOC management.

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“…According to the present literature, this seems to be a general attitude, and the barriers to the referral of ovarian cancer patients to genetic counselling during oncology routine appointments remain largely unknown [15,16,17,18,19,20]. …”

Section: Discussionmentioning

confidence: 99%

“…Despite the growing awareness of the high prevalence of BRCA mutations in ovarian cancer patients, health providers continue to refer only some of them to genetic services [15,16,17,18,19,20]. …”

Section: Introductionmentioning

confidence: 99%

Referral of Ovarian Cancer Patients for Genetic Counselling by Oncologists: Need for Improvement

Ricci

Sciallero²,

Mammoliti³

et al. 2015

Public Health Genomics

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Background/Aims: Nearly 15% of all ovarian cancer patients carry a germline BRCA mutation. A pilot project was started at IRCCS AOU San Martino - IST, Genoa, to assess the feasibility and consequences of offering genetic counselling to all ovarian cancer patients during routine oncology appointments. We present early results of this project. Methods: Patients who attended an oncology visit at the Medical Oncology Unit 1 between November 2012 and December 2013 were identified. Medical records were reviewed for clinical data, genetic counselling and testing outcomes. Results: Out of 104 women diagnosed with ovarian cancer undergoing an oncology visit, 94 had not had genetic counselling in the past. Twenty-nine patients (29/94, 31%) were referred to the Unit of Hereditary Cancer; of these, 14/26 (54%) were referred at the first visit and 15/68 (22%) at the follow-up visit (p = 0.003). Most referred women attended genetic counselling (22/29, 76%) and had BRCA genetic testing (21/22, 95%). Four BRCA1 mutations were detected (4/21, 19%). Conclusions: Oncologists discuss genetic counselling with a minority of ovarian cancer patients. Mainstreaming such practice is important to optimize the management of these patients and their families. Efforts are needed to identify new models for introducing ovarian cancer genetic risk assessment in oncology practice.

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Does the Diagnosis of Breast or Ovarian Cancer Trigger Referral to Genetic Counseling?

Abstract: There is a missed opportunity for referring patients to genetic counseling, especially among patients with ovarian cancer. A pilot study suggests that alerting treating physicians is a feasible strategy to increase appropriate referral.

Cited by 54 publications

References 21 publications

Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Current Status of the Management of Hereditary Breast and Ovarian Cancer in Asia: First Report by the Asian BRCA Consortium

Referral of Ovarian Cancer Patients for Genetic Counselling by Oncologists: Need for Improvement

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