Cancer risk assessment using genetic panel testing: Considerations for clinical application

Susan Hiraki, Erica S. Rinella, Freya Schnabel, Ruth Oratz, Harry Ostrer

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

With the completion of the Human Genome Project and the development of high throughput technologies, such as next-generation sequencing, the use of multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range of genes confer risks for one or more cancers, the development of genetic cancer panels to assess these risks represents just one example of how multiplex testing is being applied clinically. There are a number of issues and challenges to consider when conducting genetic testing for cancer risk assessment, and these issues become exceedingly more complex when moving from the traditional single-gene approach to panel testing. Here, we address the practical considerations for clinical use of panel testing for breast, ovarian, and colon cancers, including the benefits, limitations and challenges, genetic counseling issues, and management guidelines.

Original languageEnglish (US)
Pages (from-to)604-617
Number of pages14
JournalJournal of Genetic Counseling
Volume23
Issue number4
DOIs
StatePublished - Aug 2014

Keywords

  • Breast cancer
  • Cancer panels
  • Colon cancer
  • Ovarian cancer
  • Risk assessment

ASJC Scopus subject areas

  • Genetics(clinical)

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