BRCA1/2 Population Screening: Embracing the Benefits

Plon, Sharon E.

doi:10.3747/co.22.2660

Cited by 7 publications

(4 citation statements)

References 13 publications

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“…[15][16][17] Because of the higher carrier frequency of three known BRCA founder mutations in the AJ population, the notion of offering them screening for these mutations has been suggested over many years. 5,[18][19][20] In 2008, in a free population screening program conducted by Steven Narod and colleagues in Canada, 2,080 unselected Jewish women were tested for the founder mutations. 21 Twenty-two new carriers were identified, only 10 of whom would have met the Canadian BRCA testing guidelines in place at that time.…”

Section: Resultsmentioning

confidence: 99%

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

Wiesman

Rose

Grant

et al. 2017

Genetics in Medicine

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Section: Resultsmentioning

confidence: 99%

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

Wiesman

Rose

Grant

et al. 2017

Genetics in Medicine

View full text Add to dashboard Cite

“…Those seeking testing are often required to pay out-of-pocket to test through their healthcare provider or a direct-to-consumer testing company. Some genetics professionals have suggested that all AJ individuals be offered BRCA testing, regardless of their personal and family histories of cancer [18,19]. A 2010 community-wide BRCA testing initiative in Toronto [20] and a similar 2015 initiative in New York City [21] were successful at identifying low-risk AJ individuals with BRCA mutations and supported the notion that a greater number of mutation carriers will be detected if testing criteria are expanded to include anyone of AJ ancestry.…”

Section: Introductionmentioning

confidence: 99%

Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study

Rose

Hardy

Gates

et al. 2022

Public Health Genomics

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Introduction: Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a BRCA mutation, which is 10 times the general population risk. JScreen launched the PEACH BRCA Study, a telehealth-based platform for BRCA education and testing, with the goal of creating an effective model for BRCA testing in low-risk AJ individuals who do not meet national testing criteria. Other goals were to determine the rate of BRCA mutations in this group, to assess the adequacy of screening for the 3 common AJ founder mutations only, and to assess satisfaction with the telehealth model to help inform a national launch of a broader cancer genetic testing program. Methods: Criteria for participation included those who were AJ, resided in the metro-Atlanta area, were aged 25 and older, and had no personal or close family history of BRCA-related cancers. Pre-test education was provided through a video and written summary, followed by complimentary BRCA1/2 sequencing and post-test genetic counseling. Participants responded to pre- and post-test surveys, which assessed knowledge and satisfaction. Those who were not eligible to participate were sent genetic counseling resources and later surveyed. Results: Five hundred one participants were tested and the results included 4 positives (0.8% positivity rate), 494 negatives, and 3 variants of uncertain significance. Overall satisfaction with the study process was high (96.9/100), knowledge about BRCA was high (97.5% of participants passed a pre-test knowledge quiz), and satisfaction with pre- and post-test education was high (97.9% of participants were satisfied with the pre-test video and written summary, and 99.5% felt that their post-test genetic counseling session was valuable). Many participants expressed interest in receiving broader cancer testing. Conclusions: The BRCA founder mutation rate in a low-risk AJ population was significantly lower than the previously established AJ rate of 1 in 40. It was also determined that a telehealth model for a cancer genetics program is effective and acceptable to the population tested. This study established interest in broader cancer genetic testing through a telehealth platform and suggested that testing may be successful in the Jewish community at a national level and potentially in other populations, provided that patient education and genetic counseling are adequately incorporated.

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“…Age is an important criteria for screening, but calls for population based preventive genomic screening programs 15 – 17 , 19 do not mention whether upper age should be a consideration in developing such programs. Questions remain whether such programs will employ upper age limits, as for other clinical screenings, on the assumption that older individuals would not benefit.…”

Section: Introductionmentioning

confidence: 99%

Age and perceived risks and benefits of preventive genomic screening

Waltz

Cadigan

Prince

et al. 2018

Genetics in Medicine

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Purpose As genome sequencing moves from research to clinical practice, sequencing technologies focused on “medically actionable” targets are being promoted for preventive screening despite the dearth of systematic evidence of risks and benefits and criteria for who should be screened. This study investigates researchers’ and research participants’ perceptions of these issues within the context of a preventive genomic screening study, GeneScreen. Methods We recorded researcher deliberations regarding age eligibility criteria and the risks and benefits of screening, and conducted interviews with 50 GeneScreen participants about their motivations for joining and perceptions of risks and benefits. Results Researchers made assumptions about who would want and benefit from screening based on age. After discussion, researchers opted not to have an upper age limit for enrollment. Participants of all ages perceived similar benefits, including prevention, treatment, and cascade testing, and similar risks such as insurance discrimination and worry. Conclusion While clinical benefits of preventive genomic screening for older adults are debatable, our respondents perceived a range of benefits of screening in both clinical and research settings. Researchers and clinicians should carefully consider decisions about excluding older adults and providing information about benefits and risks across age groups.

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BRCA1/2 Population Screening: Embracing the Benefits

Abstract: -

Cited by 7 publications

References 13 publications

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

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

Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A <b><i>BRCA</i></b> Pilot Study

Age and perceived risks and benefits of preventive genomic screening

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