Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial

Genet Test. 2008 Mar;12(1):37-52. doi: 10.1089/gte.2006.0525.


Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. 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 also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Audiovisual Aids
  • Breast Neoplasms / genetics
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling / methods*
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Ovarian Neoplasms / genetics
  • Quality Assurance, Health Care
  • Randomized Controlled Trials as Topic / methods*
  • Risk Factors
  • Teaching
  • Telephone*