Experiences from a pilot program bringing BRCA1/2 genetic screening to the

Wiesman, Chana; Rose, Eve; Grant, Allison; Zimilover, Adam; Klugman, Susan; Schreiber‐Agus, Nicole

doi:10.1038/gim.2016.154

Cited by 17 publications

(19 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Identifying founder mutations would enable us to examine specific loci in the screening of high‐risk subpopulations for inherited breast cancer without performing a full sequence analysis of BRCA1 and BRCA2 . Founder mutations have previously been described for some population as in Ashkenazi Jewish population, 3% of individuals carried BRCA1 c.185delAG, BRCA1 c.5382insC or BRCA2 c.6174delT mutations (Wiesman et al, ). The frequency of BRCA1 and BRCA2 mutations varies among population (Chopra & Kelly, ).…”

Section: Discussionmentioning

confidence: 98%

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next‐generation sequencing

Hannan

Keogh

Taha

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background Breast cancer is the most common malignancy in women worldwide. About 5%–10% are due to hereditary predisposition. The contribution of BRCA1/2 mutations to familial breast cancer in Bahrain has not been explored. The objective of this study was to investigate the spectrum of BRCA1/2 genetic variants and estimate their frequencies in familial breast cancer. We also aim to test the efficiency of the next‐generation sequencing (NGS) as a powerful tool for detecting genetic variation within BRCA1/2 genes. Methods Twenty‐five unrelated female patients diagnosed with familial breast cancer were screened for BRCA1/2 variants. All targeted coding exons and exon–intron boundaries of BRCA1/2 genes were amplified with 167 pairs of primers by NGS. Results We have identified two deleterious BRCA1/2 variants in two patients, one in BRCA1 gene (c.4850C>A) and other in BRCA2 gene (c.67+2T>C). In addition to the deleterious variants, we identified 24 distinct missense variants of uncertain significance, 10 of them are seen to confer minor but cumulatively significant risk of breast cancer. Conclusion Our data suggest that BRCA1/2 variants may contribute to the pathogenesis of familial breast cancer in Bahrain. It also shows that NGS is useful tool for screening BRCA1/2 genetic variants of probands and unaffected relatives.

show abstract

Section: Discussionmentioning

confidence: 98%

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next‐generation sequencing

Hannan

Keogh

Taha

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…Group GC models involve an informative group session that may or may not be followed by brief one-on-one GC. Six articles were identified, including four North American studies and two European studies ( Table 3 ) [ 49 , 50 , 51 , 52 , 53 , 54 ]. All six used group GC models for hereditary breast and ovarian cancer, two of which were limited to Ashkenazi Jewish individuals [ 52 , 54 ].…”

Section: Resultsmentioning

confidence: 99%

“…Six articles were identified, including four North American studies and two European studies ( Table 3 ) [ 49 , 50 , 51 , 52 , 53 , 54 ]. All six used group GC models for hereditary breast and ovarian cancer, two of which were limited to Ashkenazi Jewish individuals [ 52 , 54 ]. Four articles compared group GC to traditional GC [ 50 , 51 , 52 , 53 ].…”

Section: Resultsmentioning

confidence: 99%

“…All six studies reported high levels of patient satisfaction with group GC. Two studies found that many women prefer individual to group GC [ 50 , 51 ]; however, in a retrospective study of low-risk Ashkenazi Jewish individuals, only 8% reported a preference for traditional GC [ 54 ]. Time was assessed in five studies [ 49 , 50 , 51 , 52 , 53 ], and cost was assessed in two [ 49 , 52 ].…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

McCuaig

Armel

Care

et al. 2018

Cancers

View full text Add to dashboard Cite

The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.

show abstract

“…Using an online platform to facilitate genetic testing uptake is hypothesised to be highly accessible for the Australian public, as 86% of households are reported to possess Internet access (Australian Bureau of Statistics 2016). Furthermore, there has been success in BRCA1/2 JFM screening trials conducted internationally with incorporation of similarly streamlined models of pre-test education utilized group counselling sessions (Wiesman et al 2016), a pre-test genetics education pamphlet (Metcalfe et al 2010b), written information (Lieberman et al 2016b) or information packages consisting of both written and digital material (Manchanda et al 2015b).…”

Section: Introductionmentioning

confidence: 99%

Online BRCA1/2 screening in the Australian Jewish community: a qualitative study

et al. 2019

View full text Add to dashboard Cite

Screening programmes for BRCA1/2 Jewish Founder mutations (JFM) in the Jewish community have been advocated internationally. Implementation of these programmes could decrease morbidity and mortality of BRCA1/2 JFM carriers through the uptake of cancer screening strategies and risk-reducing surgery. An online programme offered to the Sydney Jewish community that delivers pre-test information and collects consent for BRCA1/2 JFM testing via a website is currently being evaluated (JeneScreen). Forty-three participants from JeneScreen were invited to participate in a sub-study, of semi-structured pre-and post-result telephone interviews. Eleven participants consented to the sub-study. The interviews explored their experiences regarding the online model of obtaining pre-test genetic information, giving consent and receiving results. Inductive thematic analysis was carried out on the interviews. Overarching themes identified include (1) embracing online testing, (2) the online pretest experience, (3) the result notification experience, (4) concerns associated with online testing and (5) testing as a responsibility. Overall, participants were highly satisfied with online BRCA1/2 JFM testing, an indication that the a website for pre-test information provision is an acceptable alternative to in-person genetic counselling for BRCA1/2 JFM screening and represents a feasible model for future community screening efforts.

show abstract

Experiences from a pilot program bringing BRCA1/2 genetic screening to the

Cited by 17 publications

References 36 publications

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next‐generation sequencing

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next‐generation sequencing

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

Online BRCA1/2 screening in the Australian Jewish community: a qualitative study

Contact Info

Product

Resources

About