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

• Published in: Molecular genetics & genomic medicine 2019-09, Vol.7 (9), p.e886-n/a
• Main Authors: Gemmell, Amber P., Mauer, Caitlin B., Reys, Brian D., Pirzadeh‐Miller, Sara, Ross, Theodora S.
• Format: Article
• Language: English
• Subjects: Adult; Cancer; Clinical Report; Clinical Reports; Colon; colon cancer; Colonic Neoplasms - genetics; Colorectal cancer; Colorectal carcinoma; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Endometrial cancer; Endometrial Neoplasms - genetics; Endometrium; Family; Family medical history; Female; Genetic Counseling; Genetics; Guidelines; Humans; Lynch syndrome; Male; Management; management guidelines; Medical research; Pedigree; Polls & surveys; Proteins; Risk assessment; Screening; Studies; Surgery; Surveillance
• ISSN: 2324-9269; 2324-9269
• DOI: 10.1002/mgg3.886

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. Individuals with a family history of colon and endometrial cancer who test negative for a cancer gene mutation still need to have a risk management plan. Data in this manuscript suggest that when a relative with cancer is not a first-degree relative, the risk management recommendations from different genetic counselors are not consistent. There is a need for standards in management of these patients and their families.