Genetic Testing in Patients With Newly Diagnosed Breast Cancer: Room for Improvement

Ahn, Soojin; Port, Elisa

doi:10.1200/jco.2017.72.8816

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…However, putting guidelines about genetic counseling into practice is challenging. [4][5][6] Multigene panel testing, which seems to be replacing BRCA1/2-only testing, requires more counseling expertise, from initial consideration of test type, to discussion of results and formulation of a management plan. Integrating genetic counseling into the treatment decision workflow after a diagnosis of breast cancer is problematic because treatments focus on the diagnosed cancer and the pace of decision making is brisk.…”

Section: Introductionmentioning

confidence: 99%

Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer

Katz

Ward

Hamilton

et al. 2018

JCO

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Purpose Little is known about the extent to which genetic counseling is integrated into community practices for patients newly diagnosed with breast cancer. We examined the receipt of clinically indicated genetic counseling in these patients. Patients and Methods We surveyed 5,080 patients between the ages of 20 and 79 years, diagnosed from July 2013 to August 2015 with early-stage breast cancer and reported to the SEER registries of Georgia and Los Angeles County. Surveys were linked to SEER clinical data and genetic test results. The study sample (N = 1,711) comprised patients with indications for formal genetic risk evaluation. Results Overall, 47.4% did not get tested, 40.7% tested negative, 7.4% had a variant of uncertain significance only, and 4.5% had a pathogenic mutation. Three quarters (74.6%) received some form of genetic counseling (43.5%, formal counseling and 31.1%, physician-directed discussion). Virtually all tested patients (96.1%) reported some form of genetic discussion (62.2%, formal counseling and 33.9%, physician-directed discussion). However, only one half (50.6%) of those not tested received any discussion about genetics. Younger women were more likely to report some type of counseling, controlling for other factors: odds ratio, 4.5 (95% CI, 2.6 to 8.0); 1.9 (95% CI, 1.1 to 3.3); and 1.5 (95% CI, 1.0 to 2.3) for women younger than 50 years of age, 50 to 59 years of age, and 60 to 69 years of age versus those 70 years of age and older. Patients' assessments of the amount of information they received about whether to get tested were similarly high whether they were counseled by a genetics expert or by a physician only (80.8% v 79.4% stated information was just right, P = .59). Conclusion Less than one half (43.5%) of patients with clinical indications received formal genetic counseling. There is a large gap between mandates for timely pretest formal genetic counseling in higher-risk patients and the reality of practice today.

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Section: Introductionmentioning

confidence: 99%

Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer

Katz

Ward

Hamilton

et al. 2018

JCO

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“…Clinical decisions cannot be made on the presence of VUS, however, over time these variants may be reclassified as pathogenic or non-pathogenic, with the majority downgraded [ 8 , 83 ]. As a result, there is a possibility of healthy people undergoing RRS or invasive surveillance unnecessarily, being exposed to unnecessary harm [ 84 ], and anecdotally this has become the subject of a number of medico-legal cases. Conversely, there is a possibility that VUS are reclassified as pathogenic [ 83 ].…”

Section: Discussionmentioning

confidence: 99%

Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines

et al. 2023

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Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offers germline and somatic testing to patients with certain cancers or rare and inherited diseases, or, in some cases, to their relatives. This review summarises current UK guidelines for risk-reducing surgical interventions available for individuals with no personal history of cancer, who are determined to carry germline pathogenic variants. An electronic literature search of NICE guidelines and PubMed citable articles was performed. NICE guidelines are available for bilateral mastectomy and are currently in development for risk-reducing bilateral salpingo-oophorectomy. Guidelines developed with affiliation to, or through relevant British Surgical Societies or international consensus, are available for risk-reducing hysterectomy, polypectomy, gastrectomy, and thyroidectomy. There is a disparity in the development and distribution of national guidelines for interventions amongst tumour types. Whilst we are focusing on UK guidelines, we anticipate they will be relevant much more generally and so of interest to a wider audience including where there are no national guidelines to refer to. We suggest that, as genetic testing becomes rapidly more accessible, guideline development for interventions should be more closely aligned to those for testing.

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“…Open access suboptimal in many jurisdictions. [16][17][18][19] The resourceintense nature of traditional genetic services, [20][21][22] and constraints related to the number and location of geneticists and genetic counsellors (hereafter referred to as genetics providers) available, remain key barriers to timely and equitable access to these services. 23 24 In traditional models of oncogenetic service provision, patients with cancer are referred to a geneticist for in-person, one-on-one genetic counselling (pre-test and post-test) and genetic testing.…”

Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

“…Testing for pathogenic variants is now a well-established tool for cancer risk reduction,12–14 and its use has become central to inform diagnosis and treatment decisions in oncology 15. Although there is consensus regarding the need to ensure timely access to high-quality genetic services for patients with inherited cancer susceptibility, in practice, genetic referral and testing rates remain suboptimal in many jurisdictions 16–19. The resource-intense nature of traditional genetic services,20–22 and constraints related to the number and location of geneticists and genetic counsellors (hereafter referred to as genetics providers) available, remain key barriers to timely and equitable access to these services 23 24…”

Section: Introductionmentioning

confidence: 99%

Examining interprofessional collaboration in oncogenetic service delivery models for hereditary cancers: a scoping review protocol

et al. 2022

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IntroductionIn a context of limited genetic specialists, collaborative models have been proposed to ensure timely access to high quality oncogenetic services for individuals with inherited cancer susceptibility. Yet, extensive variability in the terminology used and lack of a clear understanding of how interprofessional collaboration is operationalised and evaluated currently constrains the development of a robust evidence base on the value of different approaches used to optimise access to these services. To fill in this knowledge gap, this scoping review aims to systematically unpack the nature and extent of collaboration proposed by these interventions, and synthesise the evidence available on their implementation, effectiveness and economic impact.Methods and analysisFollowing the Joanna Briggs Institute guidelines for scoping reviews, a comprehensive literature search will be conducted to identify peer-reviewed and grey literature on collaborative models used for adult patients with, or at increased risk of, hereditary breast, ovarian, colorectal and prostate cancers. An initial search was developed for Medline, Embase, CINAHL (Cumulative Index to Nursing and Allied Health Literature), Cochrane and Web of Science on 13 June 2022 and will be complemented by searches in Google and relevant websites. Documents describing either the theory of change, planning, implementation and/or evaluation of these interventions will be considered for inclusion. Results will be summarised descriptively and used to compare relevant model characteristics and synthesise evidence available on their implementation, effectiveness and economic impact. This process is expected to guide the development of a definition and typology of collaborative models in oncogenetics that could help strengthen the knowledge base on these interventions. Moreover, because we will be mapping the existing evidence on collaborative models in oncogenetics, the proposed review will help us identify areas where additional research might be needed.Ethics and disseminationThis research does not require ethics approval. Results from this review will be disseminated through peer-reviewed articles and conferences.

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Genetic Testing in Patients With Newly Diagnosed Breast Cancer: Room for Improvement

Cited by 6 publications

References 11 publications

Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer

Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer

Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines

Examining interprofessional collaboration in oncogenetic service delivery models for hereditary cancers: a scoping review protocol

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