Family still matters: Counseling patients with complex family histories of colon and endometrial cancers

Amber P. Gemmell, Caitlin B. Mauer, Brian D. Reys, Sara Pirzadeh-Miller, Theodora S. Ross

Research output: Contribution to journalArticle

Abstract

Background: There are no national guidelines for the management of patients with a family history consistent with Lynch syndrome (LS) but a negative genetic test. To determine current management practices, genetic counselors’ (GCs) recommendations were assessed. Methods: A survey of GCs using five hypothetical pedigrees was posted to National Society of Genetic Counselors (NSGC) discussion forums. Descriptive statistics were used. Results: One-hundred and fifteen surveys were completed. A pedigree with a first-degree relative (FDR) with early-onset colorectal cancer (CRC) and a family history of CRC and endometrial cancer (EC) prompted 83% (n = 95) of respondents to recommend early and frequent colonoscopies, based on family history. When the CRCs and ECs occurred in family members removed from the proband, 96% (n = 110) of GCs said they would screen based on family history. However, only 52% (n = 60) suggested CRC screening should begin earlier and occur more often, and 43% (n = 50) suggested CRC screening should follow standard age and frequency guidelines. Conclusion: Concordance of opinion among GCs for the management of patients with negative genetic test results exists when FDRs are affected. However, when affected relatives are more distant, GCs disagreed on screening recommendations. These data suggest a need for guidelines for patients with a family history of cancer and a negative genetic test.

Original languageEnglish (US)
Article numbere886
JournalMolecular Genetics and Genomic Medicine
Volume7
Issue number9
DOIs
StatePublished - Sep 1 2019

Keywords

  • Lynch syndrome
  • colon cancer
  • endometrial cancer
  • genetic counseling
  • management guidelines

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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