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A Study of the Communication of Genetic Test Results by Telephone: a Multi-center Study

18 Years
Open (Enrolling)
Candidates for BRCA 1/2 Genetic Testing

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Trial Information

A Study of the Communication of Genetic Test Results by Telephone: a Multi-center Study

Basic science advances in genomics have provided great promise for improving human health
and reducing the burden of cancer in the United States. The recent successes in genome-wide
association studies (GWAS) and related technologies in identifying genetic changes
associated with a variety of common diseases have fueled the rapidly growing field of
personalized medicine. The promise of personalized medicine is the ability to tailor the
treatment or screening of individual patients based on their genotype. Many have highlighted
the urgent need for multidisciplinary translational research that focuses on how to advance
gene discoveries into effective clinical applications. Genetic screening for cancer
susceptibility, one application of personalized medicine, has become a standard
evidence-based practice in cancer prevention. Given the complexity of genetic information
and the potential social and psychological sequellae, two in-person visits (e.g. pre-test
and post-test counseling) with genetic specialists are recommended for delivery of genetic
testing for cancer susceptibility. With an increasing demand for genetic services, the two
in-person visit delivery model presents barriers to widespread dissemination of genetic
testing for disease susceptibility. Innovative delivery models for effective, efficient
genetic risk communication that result in behavior change are needed. Telephone delivery of
genetic services is one innovative and efficient delivery model that has the potential to
expand genetic services to diverse clinical systems and address the insufficient genetic
workforce as an increasing number of genetic applications enter clinical practice. While
providers and patients identify advantages to telephone delivery of genetic services, they
also recognize potential disadvantages particularly in the setting of a positive test
result. Thus, evaluation of the psychosocial and behavioral impact of innovations to genetic
service delivery (i.e. telephone communication) in diverse populations and among vulnerable
subgroups are needed to optimize the health benefits, and minimize the risks of broad
dissemination of clinical genetic testing for cancer susceptibility.

The goal of this research is to evaluate the psychological, behavioral and economic outcomes
(i.e. risks and benefits) of an innovative and efficient delivery model of genetic services,
telephone communication, as compared to the current standard, in-person communication of
genetic test results. The investigators expect this research to inform evidence based
practice guidelines and potentially change the paradigm of delivery of genetic services for
disease susceptibility.

Inclusion Criteria:

- Engligh speaking Male or Female Completed in person pretest counseling Decided to
have blood drawn for clinical BRCA 1/2 Age 18 or older

Exclusion Criteria:


Type of Study:


Study Design:

Observational Model: Cohort, Time Perspective: Prospective

Outcome Measure:

Number of participants with adverse events

Safety Issue:


Principal Investigator

Angela Bradbury, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Abramson Cancer Center of the University of Pennsylvania


United States: Institutional Review Board

Study ID:

UPCC 29112



Start Date:

November 2012

Completion Date:

November 2015

Related Keywords:

  • Candidates for BRCA 1/2 Genetic Testing



Abramson Cancer Center of the University of Pennsylvania Philadelphia, Pennsylvania  19104-4283