R
Rachel Nusbaum
Researcher at Georgetown University
Publications - 22
Citations - 1010
Rachel Nusbaum is an academic researcher from Georgetown University. The author has contributed to research in topics: Genetic counseling & Genetic testing. The author has an hindex of 15, co-authored 21 publications receiving 889 citations. Previous affiliations of Rachel Nusbaum include Icahn School of Medicine at Mount Sinai & University of Washington.
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Journal ArticleDOI
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Lisa R. Susswein,Megan L. Marshall,Rachel Nusbaum,Kristen J. Vogel Postula,Scott M. Weissman,Lauren Yackowski,Erica M. Vaccari,Jeffrey Bissonnette,Jessica K. Booker,M. Laura Cremona,Federica Gibellini,Patricia D. Murphy,Daniel E. Pineda-Alvarez,Guido D. Pollevick,Zhixiong Xu,Gabi Richard,Sherri J. Bale,Rachel T. Klein,Kathleen S. Hruska,Wendy K. Chung +19 more
TL;DR: The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.
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Randomized Noninferiority Trial of Telephone Versus In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer
Marc Schwartz,Heiddis B. Valdimarsdottir,Beth N. Peshkin,Jeanne S. Mandelblatt,Rachel Nusbaum,An Tsun Huang,Yaojen Chang,Kristi D. Graves,Claudine Isaacs,Marie E. Wood,Wendy McKinnon,Judy Garber,Shelley R. McCormick,Anita Y. Kinney,George Luta,Sarah A. Kelleher,Kara Grace Leventhal,Patti Vegella,Angie Tong,Lesley King +19 more
TL;DR: Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.
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A qualitative description of receiving a diagnosis of clefting in the prenatal or postnatal period.
TL;DR: Greater awareness of the parental experience of the timing of receiving a cleft diagnosis may assist health care professionals in providing care for families with cleft lip with or without cleft palate.
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Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling
Morgan Butrick,Scott P. Kelly,Beth N. Peshkin,George Luta,Rachel Nusbaum,Gillian W. Hooker,Kristi D. Graves,Lisa Feeley,Claudine Isaacs,Heiddis B. Valdimarsdottir,Lina Jandorf,Tiffani A. DeMarco,Marie E. Wood,Wendy McKinnon,Judy Garber,Shelley R. McCormick,Marc Schwartz +16 more
TL;DR: The overall increased access made possible with telephone genetic counseling should be considered in light of the possibility that this may also lead to lower rates of testing among high-risk minority women, and additional care should be taken to address potential barriers when services are delivered by telephone.
Journal ArticleDOI
Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial.
Beth N. Peshkin,Tiffani A. DeMarco,Kristi D. Graves,Karen T. Brown,Rachel Nusbaum,Diana M. Moglia,Andrea Forman,Heiddis B. Valdimarsdottir,Marc Schwartz +8 more
TL;DR: An overview of the evolution of telephone counseling in nongenetics and genetics settings is provided and the rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCa2 genes are explained.