Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway

Grindedal, Eli Marie; Jørgensen, Kjersti; Olsson, Pernilla; Gravdehaug, Berit; Lurås, Hilde; Schlichting, Ellen; Vamre, Tone; Wangensteen, Teresia; Heramb, Cecilie; Mæhle, Lovise

doi:10.1007/s10689-020-00160-x

Cited by 18 publications

(29 citation statements)

References 36 publications

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“…Therefore, in low-income countries the appropriate counseling is not offered to the patients [ 71 ]. It is even shown that there are differences between hospitals within the same region in selecting which patients to test [ 72 ]. Patient satisfaction with mastectomy and immediate reconstruction is shown to differ between those undergoing therapeutic mastectomy due to cancer as opposed to unaffected women with BRCA mutation having RRM.…”

Section: Who Should We Test For Brca Mutation and At What Time?mentioning

confidence: 99%

Management of patients with BRCA mutation from the point of view of a breast surgeon

Riis

2021

Annals of Medicine &Amp; Surgery

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Germ-line mutation in BRCA (BReast CAncer gene) 1 or BRCA2 are found in 3–4% of all women with breast cancer. These patients have a significant increased risk of breast and ovarian cancer. They are often younger when diagnosed with the mutation, and the possible breast cancer they get is often aggressive with inferior outcome. There are risk reducing strategies, and the most powerful strategy is risk reducing surgery, both risk reducing bilateral mastectomy (RRM) and risk reducing bilateral salpino-oophorectomy (PBSO). This review is meant to address breast surgery in patients with germline BRCA mutation. The guidelines and techniques applied is under continuous change and it is important for the clinicians to be well informed to provide the patient with the information needed for them to make an informed decision on what risk strategy to choose.

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Section: Who Should We Test For Brca Mutation and At What Time?mentioning

confidence: 99%

Management of patients with BRCA mutation from the point of view of a breast surgeon

Riis

2021

Annals of Medicine &Amp; Surgery

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“…For the most part, the counselees who opted for additional CHEK2 testing considered the written information provided sufficient to decide about genetic testing. Our findings give an important message to health care professionals, such as gynecologists, medical oncologists and breast surgeons, as they will increasingly deliver treatment-focused genetic testing as part of mainstream breast cancer care [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Velthuizen

Luijt

Vries

et al. 2021

Hered Cancer Clin Pract

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Background CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting BRCA1/2-negative women for additional CHEK2 c.1100del testing on stored DNA-samples and 2) to explore patients’ experiences with this approach. Methods Between 2015 and 2017, women who had been tested earlier negative for BRCA1/2 germline pathogenic variants, were recontacted for additional CHEK2 c.1100del testing on stored DNA-samples, free-of-charge. They received an information letter about the CHEK2 pathogenic variant and could return an informed consent form when they opted for additional genetic testing. Those in whom the CHEK2 pathogenic variant was absent, received a letter describing this result. Those who tested positive, were invited for a personal counseling at the department of genetics. On average 21 months (range 4–27) after the genetic test result, a questionnaire was sent to all identified carriers and a control group of women who tested negative for the pathogenic variant to explore patients’ experiences with our approach. Results In total, 70% (N = 1666) of the N = 2377 women contacted opted for additional testing, and 66 (4%) of them proved to be carriers of the CHEK2 c.1100del pathogenic variant. Regardless of the outcome of the genetic test, women were generally satisfied with our approach and reported that the written information was sufficient to make an informed decision about the additional CHEK2 testing. Conclusions The uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene.

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“…of included studies (44%) were from North America [34-39, 41, 44-47, 54] (Table 2). The 25 studies [29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][51][52][53][54][55] (93%) described interventions to increase access to GC and GT through mainstreaming or UTS initiatives (S4 Table ). The study designs found were retrospective or prospective cohort studies with concurrent or historical controls (44%) [34, 36, 37, 42-47, 54, 55] or case series that reported on intervention outcomes (56%) [29-33, 35, 38-41, 48, 51-53] (Table 2).…”

Section: Plos Onementioning

confidence: 99%

“…Interventions, setting and framework. The majority of studies used complex interventions (Table 1, S4 Table ) to increase access to GC and GT, either in the routine oncology setting [29][30][31][32][33][34][35][36][37][38][39][40][51][52][53][54][55] or optimizing referral to genetic services for GC and GT [45][46][47] for ovarian or breast cancers and through optimizing access to genetic services after UTS in colorectal and endometrial cancer [39,[41][42][43][44]. The 25 studies spanned a variety of health systems (Table 2) with six studies (24%) included either a quality improvement or process model [35-37, 39, 40] or an implementation science framework [42] to guide implementation.…”

Section: Plos Onementioning

confidence: 99%

Health system interventions to integrate genetic testing in routine oncology services: A systematic review

et al. 2021

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Background Integration of genetic testing into routine oncology care could improve access to testing. This systematic review investigated interventions and the tailored implementation strategies aimed at increasing access to genetic counselling and testing and identifying hereditary cancer in oncology. Methods The search strategy results were reported using the PRISMA statement and four electronic databases were searched. Eligible studies included routine genetic testing for breast and ovarian cancer or uptake after universal tumour screening for colorectal or endometrial cancer. The titles and abstracts were reviewed and the full text articles screened for eligibility. Data extraction was preformed using a designed template and study appraisal was assessed using an adapted Newcastle Ottawa Scale. Extracted data were mapped to Proctor’s et al outcomes and the Consolidated Framework for Implementation Research and qualitatively synthesised. Results Twenty-seven studies, published up to May 2020, met the inclusion criteria. Twenty-five studies ranged from poor (72%), fair to good (28%) quality. Most interventions identified were complex (multiple components) such as; patient or health professional education, interdisciplinary practice and a documentation or system change. Forty-eight percent of studies with complex interventions demonstrated on average a 35% increase in access to genetic counselling and a 15% increase in testing completion. Mapping of study outcomes showed that 70% and 32% of the studies aligned with either the service and client or the implementation level outcome and 96% to the process or inner setting domains of the Consolidated Framework for Implementation Research. Conclusion Existing evidence suggests that complex interventions have a potentially positive effect towards genetic counselling and testing completion rates in oncology services. Studies of sound methodological quality that explore a greater breadth of pre and post implementation outcomes and informed by theory are needed. Such research could inform future service delivery models for the integration of genetics into oncology services.

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Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway

Cited by 18 publications

References 36 publications

Management of patients with BRCA mutation from the point of view of a breast surgeon

Management of patients with BRCA mutation from the point of view of a breast surgeon

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Health system interventions to integrate genetic testing in routine oncology services: A systematic review

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