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Grant Details

Grant Number: 5R01CA108933-05 Interpret this number
Primary Investigator: Schwartz, Marc
Organization: Georgetown University
Project Title: Telephone-Based Genetic Counseling: an Equivalence Trial
Fiscal Year: 2008


DESCRIPTION (provided by applicant): Demand for genetic susceptibility counseling for cancer has been steadily increasing and is expected to continue to increase as additional susceptibility genes are identified. Traditional, in-person genetic counseling has been shown to be effective at fostering informed decision making and minimizing adverse outcomes associated with genetic testing. However, the reach and accessibility of in-person genetic counseling is limited. There are large areas of the country which are not served by genetic counselors. This lack of access will worsen as the number of available genetic susceptibility tests for adult-onset diseases continues to grow. Physicians do not have the time or expertise required to provide genetic counseling. Thus, alternatives to the standard genetic counseling delivery model are needed. Such alternatives must expand the reach of genetic counseling without sacrificing efficacy. To date, there has been little research aimed at developing and evaluating alternative models of adult genetic service delivery. In the proposed equivalency trial, we will evaluate telephone-based genetic counseling. Such counseling is already commercially available, but has not been rigorously evaluated in a randomized trial. Thus, in the proposed randomized equivalency trial, we will compare telephone-based genetic counseling to standard, clinic-based genetic counseling among 1248 women with at least a 10 percent prior probability of carrying a BRCAI or BRCA2 mutation. In our previous research, we have provided genetic counseling and testing to over 2000 such women. Guided by the Ottawa Framework for Informed Decision Making and the central tenets of genetic counseling, we will compare these two groups on: 1) utilization of BRCAI/BRCA2 genetic testing and 2) psychosocial, quality of life and informed decision making outcomes. In addition, we will evaluate the applicability of the Ottawa Framework for explaining the beneficial effects of genetic counseling and we will identify individual patient variables, which moderate the effect of the two interventions.


Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.
Authors: Jacobs A.S. , Schwartz M.D. , Valdimarsdottir H. , Nusbaum R.H. , Hooker G.W. , DeMarco T.A. , Heinzmann J.E. , McKinnon W. , McCormick S.R. , Davis C. , et al. .
Source: Familial cancer, 2016 10; 15(4), p. 529-39.
PMID: 26969308
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Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.
Authors: Peshkin B.N. , Kelly S. , Nusbaum R.H. , Similuk M. , DeMarco T.A. , Hooker G.W. , Valdimarsdottir H.B. , Forman A.D. , Joines J.R. , Davis C. , et al. .
Source: Journal of genetic counseling, 2016 06; 25(3), p. 472-82.
EPub date: 2015-10-12.
PMID: 26455498
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Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling.
Authors: Butrick M. , Kelly S. , Peshkin B.N. , Luta G. , Nusbaum R. , Hooker G.W. , Graves K. , Feeley L. , Isaacs C. , Valdimarsdottir H.B. , et al. .
Source: Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jun; 17(6), p. 467-75.
EPub date: 2014-09-18.
PMID: 25232856
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Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling.
Authors: Tong A. , Kelly S. , Nusbaum R. , Graves K. , Peshkin B.N. , Valdimarsdottir H.B. , Wood M. , McKinnon W. , Garber J. , McCormick S.R. , et al. .
Source: Psycho-oncology, 2015 Jan; 24(1), p. 33-9.
EPub date: 2014-05-17.
PMID: 24839250
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Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.
Authors: Schwartz M.D. , Valdimarsdottir H.B. , Peshkin B.N. , Mandelblatt J. , Nusbaum R. , Huang A.T. , Chang Y. , Graves K. , Isaacs C. , Wood M. , et al. .
Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2014-03-01; 32(7), p. 618-26.
EPub date: 2014-01-21.
PMID: 24449235
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Brief assessment of parents' attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS).
Authors: Peshkin B.N. , DeMarco T.A. , Garber J.E. , Valdimarsdottir H.B. , Patenaude A.F. , Schneider K.A. , Schwartz M.D. , Tercyak K.P. .
Source: Journal of pediatric psychology, 2009 Jul; 34(6), p. 627-38.
EPub date: 2008-04-01.
PMID: 18385162
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Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial.
Authors: Peshkin B.N. , Demarco T.A. , Graves K.D. , Brown K. , Nusbaum R.H. , Moglia D. , Forman A. , Valdimarsdottir H. , Schwartz M.D. .
Source: Genetic testing, 2008 Mar; 12(1), p. 37-52.
PMID: 18373403
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Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children.
Authors: Tercyak K.P. , Peshkin B.N. , Demarco T.A. , Patenaude A.F. , Schneider K.A. , Garber J.E. , Valdimarsdottir H.B. , Schwartz M.D. .
Source: Genetic testing, 2007 Fall; 11(3), p. 249-55.
PMID: 17949286
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