Breast and ovarian cancer referrals to the <scp>ACT</scp> Genetic Service: are we meeting guidelines?

Aitken, Lucy; Warwick, Linda; Davis, Alison

doi:10.1111/imj.13357

Cited by 4 publications

(18 citation statements)

References 33 publications

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“…Use of the cancer-based criteria should facilitate the improvement in BRCA testing delivery that many studies have shown is required. 14,15,16,17,18,19,20,21,22,23,24,25,26…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

et al. 2019

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Key Points Question How can BRCA1 and BRCA2 gene testing in patients with cancer be increased? Findings In this quality improvement study of 1184 individuals, 5 cancer-based criteria with a 10% mutation detection rate were used by the cancer team to approve genetic testing for patients with cancer. Meaning Mainstreaming genetic testing using simple, cancer-based criteria may provide an efficient way to implement consistent, transparent, equitable, cost-effective, patient-centered genetic testing.

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“…Use of the cancer-based criteria should facilitate the improvement in BRCA testing delivery that many studies have shown is required. 14,15,16,17,18,19,20,21,22,23,24,25,26…”

Section: Discussionmentioning

confidence: 99%

“…15,16,17 These impediments have led to inappropriate and inconsistent testing. 18,19,20,21,22 Furthermore, many patients with cancer with BRCA mutations are not tested because they do not fulfill FH criteria. 23,24…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

et al. 2019

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“…In total, 40 articles were included in the review. Fourteen of these were cross-sectional studies, 2,20-32 two were retrospective studies, 15,33 and six were qualitative 4,9,[34][35][36][37] (of which four involved semi-structured interviews 4,34,35,37 ). There were 13 intervention studies, [38][39][40][41][42][43][44][45][46][47][48][49][50] comprising three validation studies, 38,47,50 one beforeafter study, 49 three hybrid implementation studies, 42,45,48 one comparison against standard care, 40 two comparative studies, 41,44 and three observational studies.…”

Section: Description Of Studiesmentioning

confidence: 99%

“…Fourteen studies were carried out in the UK, 2,4,[20][21][22]25,34,41,44,[49][50][51]54,55 17 in North America, 9,15,23,[27][28][29][30][31]35,37,39,42,43,45,48,52,53 two in South America, 38,47 and two in Australia. 33,36 The remaining four were conducted in the European Union 26,32,40,46 (the Netherlands, Belgium, and Spain), and one study reported data from four countries across Europe, 24 namely the UK, France, Germany, and the Netherlands.…”

Section: Description Of Studiesmentioning

confidence: 99%

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Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes

et al. 2018

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BackgroundA growing demand for cancer genetic services has led to suggestions for the involvement of GPs. How, and in which conditions, they can be involved, and whether there are important barriers to implementation should be ascertained.AimTo review the tools available, clinician attitudes and experiences, and the effects on patients of genetic cancer risk assessment in general practice.Design and settingSystematic review of papers published worldwide between 1996 and 2017.MethodThe MEDLINE (via Ovid), EMBASE, Cochrane Library, CINAHL, and PsycINFO databases and grey literature were searched for entries dating from January 1996 to December 2017. Study quality was assessed with relevant Critical Appraisal Skills Programme tool checklists and a narrative synthesis of findings was conducted.ResultsIn total, 40 studies were included in the review. A variety of testing and screening tools were available for genetic cancer risk assessment in general practice, principally for breast, breast–ovarian, and colorectal cancer risk. GPs often reported low knowledge and confidence to engage with genetic cancer risk assessment; however, despite time pressures and concerns about confidentiality and the impact of results on family members, some recognised the potential importance relating to such a development of the GP’s role. Studies found few reported benefits for patients. Concerns about negative impacts on patient anxiety and cancer worries were largely not borne out.ConclusionGPs may have a potential role in identifying patients at risk of hereditary cancer that can be facilitated by family-history tools. There is currently insufficient evidence to support the implementation of population-wide screening for genetic cancer risk, especially given the competing demands of general practice.

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Adherence to referral guidelines

Spigelman

2019

IJHG

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Purpose A significant subset of patients (12 per cent) with triple negative breast cancer (TNBC) is BRCA mutation carriers, which can be identified through genetic testing. The purpose of this paper is to evaluate the referral practice for TNBC patients with reference to New South Wales (NSW) referral guidelines at the time of diagnosis and to assess the effectiveness of such guidelines in identifying BRCA mutations. Robust health governance requires monitoring of adherence to evidence-based guidelines such as those that underpin referral for cancer genetic testing in this clinical scenario. Design/methodology/approach The authors conducted a retrospective clinical audit of identified TNBC patients at St Vincent’s Hospital (SVH) between 2006 and 2016 in NSW, comparing referral practice to guidelines extant at the time of diagnosis. Family history was considered for age guideline-inappropriate referrals to SVH while the results of BRCA gene testing were assessed for all referred. Findings Overall, of the 17 patients eligible for referral based on the age criterion, 10 (58.5 per cent) were referred appropriately; however, there were substantial improvements from 2012 with 100 per cent referred. Of note, 12 (33.4 per cent) of 36 patients referred to SVH were referred outside of guidelines, pointing to other reasons for referral, such as patient age (OR 0.945; 95% CI 0.914–0.978) and calendar year (OR: 1.332; 95% CI: 1.127–1.575) at TNBC diagnosis. Referral guidelines captured 66.67 per cent of identified deleterious BRCA mutations in those tested. Originality/value Substantial under-referral of guideline-eligible patients was identified, with evidence-based guidelines effective in identifying high-risk individuals for BRCA mutation testing. There was, however, a substantial proportion of guideline-inappropriate referrals.

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Breast and ovarian cancer referrals to the ACT Genetic Service: are we meeting guidelines?

Abstract: Demand on the ACT Genetic Service increased over the time period assessed. As a significant proportion of patients did not meet eviQ cancer referral guidelines, it is worth reviewing the referral process in order to optimise utility of this limited resource.

Cited by 4 publications

References 33 publications

Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes

Adherence to referral guidelines

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