Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study

Morgan, Kelly; Hamilton, Jada G.; Symecko, Heather; Kamara, Daniella; Jenkins, C. David; Lester, Jenny; Spielman, Kelsey; Pace, Lydia E.; Gabriel, Camila Pires Cremasco; Levin, Jeffrey; Tejada, Prince Rainier; Braswell, Anthony; Marcell, Vanessa; Wildman, Temima; Devolder, Bryan; Baum, Robin Camhi; Block, Jeremy N.; Fesko, Yuri; Boehler, Kylin; Howell, Victoria; Heitler, Jacob; Nathanson, Katherine L.; Tung, Nadine; Karlan, Beth Y.; Domchek, Susan M.; Garber, Judy E.; Offit, Kenneth

doi:10.1016/j.gim.2021.10.016

Cited by 10 publications

(3 citation statements)

References 36 publications

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“…Studies with female AJ BRCA1/2 carriers identified through population screening indicate acceptability for and high uptake of risk-reducing strategies (Metcalfe et al, 2012;. Long-term follow up supports improvements in psychological outcomes such as anxiety (Metcalfe et al, 2012;Manchanda et al, 2015a;Manchanda et al, 2020a;Morgan et al, 2021). In the general population, there is less evidence on the uptake of preventive strategies or outcomes.…”

Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

From the patient to the population: Use of genomics for population screening

et al. 2022

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Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.

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Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

From the patient to the population: Use of genomics for population screening

et al. 2022

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“…Working with colleagues from across the United States, we designed a study to increase BRCA testing in a high-risk population through a web-enabled model using online counselling and social media to better engage at-risk individuals and their families. We observed that even with genetic testing provided free of charge, many potential participants remained hesitant to undergo testing, and their primary care providers did not feel comfortable returning the genetic testing results 27 …”

Section: Introductionmentioning

confidence: 97%

“…We observed that even with genetic testing provided free of charge, many potential participants remained hesitant to undergo testing, and their primary care providers did not feel comfortable returning the genetic testing results. 27 This broader perspective has led me to focus on new projects, which have further invigorated my career. I moved to the fulltime faculty at University of California, Los Angeles in 2019, and this opened up new opportunities for precision prevention in an even larger patient population.…”

Section: Introductionmentioning

confidence: 99%

Improving the Lives of Women With Ovarian Cancer

KARLAN

2024

Clinical Obstetrics &Amp; Gynecology

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Being a gynecologic oncologist is a privilege. Women with cancer address their challenges with grit and resilience. Their most basic questions motivated my career-long search for scientific answers hidden in genetics, novel therapeutics, and cancer prevention. But medicine is a team sport. Working alongside gifted colleagues and mentoring trainees to assume starring roles on the team has sustained and enriched my career. Advocating for patients and the specialty of gynecologic oncology provided another means to advance research and cancer awareness to improve patient outcomes. The author believe the most exciting times are yet to come.

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Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer

Pederson,

Narod

2024

BJC Rep

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It is thirty years since the BRCA1 and BRCA2 genes were discovered and genetic testing for BRCA1 and BRCA2 was introduced. Despite increasing awareness of the genetic basis of cancer and our evolving knowledge of effective means of prevention, screening, and treatment for hereditary breast and ovarian cancers, genetic testing is underutilized, and most mutation carriers remain unidentified. In this commentary, we explore possible reasons for why this might be so. Our focus is on factors that may influence or deter a patient from pursuing testing, rather than discussing the implications of receiving a positive test result. Issues of concern include an inadequate number of genetic counselors, restrictive (and conflicting) eligibility criteria for testing, the cost of the test, health insurance coverage, fear of future insurance discrimination, privacy issues, lack of familiarity with the testing process in primary care and gaps in both patient and provider knowledge about the impact and the value of testing. We discuss how these factors may lead to the underutilization of genetic testing in North America and throughout the world and discuss alternative models of genetic healthcare delivery. We have invited leaders in cancer genetic from around the world to tell us what they think are the barriers to testing in their host countries.

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Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study

Cited by 10 publications

References 36 publications

From the patient to the population: Use of genomics for population screening

From the patient to the population: Use of genomics for population screening

Improving the Lives of Women With Ovarian Cancer

Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer

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