Genetic Counselor Practices Involving Pediatric Patients with FAP

an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening

Caitlin E. Lawson, Thomas M. Attard, Hongying Dai, Seth Septer

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma. For hepatoblastoma screening, the majority did recommend this in children less than age five years with known APC mutations. An interval of every 3–6 months was most commonly suggested; however, responses extended to screening on a less than annual basis. These results highlight the need for further investigation into why some genetic counselors do not recommend APC testing in young at-risk children and what factors influence views about the ideal age and indication for APC testing. Studies of these issues would help to define the best clinical practice model for genetic testing and hepatoblastoma screening in pediatric patients with FAP.

Original languageEnglish (US)
Pages (from-to)586-593
Number of pages8
JournalJournal of Genetic Counseling
Volume26
Issue number3
DOIs
StatePublished - Jun 1 2017

Fingerprint

Hepatoblastoma
Adenomatous Polyposis Coli
Genetic Testing
Pediatrics
APC Genes
Osteoma
Aggressive Fibromatosis
Retinal Pigment Epithelium
Counselors
Jaw
Practice Guidelines
Hypertrophy
Neoplasms
Consensus
Mutation

Keywords

  • Colon cancer
  • FAP
  • Hepatoblastoma
  • Pediatric genetic counseling

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Genetic Counselor Practices Involving Pediatric Patients with FAP : an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening. / Lawson, Caitlin E.; Attard, Thomas M.; Dai, Hongying; Septer, Seth.

In: Journal of Genetic Counseling, Vol. 26, No. 3, 01.06.2017, p. 586-593.

Research output: Contribution to journalArticle

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