Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening.
Document Type
Article
Publication Date
6-1-2017
Identifier
DOI: 10.1007/s10897-016-0030-2
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.
Journal Title
Journal of genetic counseling
Volume
26
Issue
3
First Page
586
Last Page
593
MeSH Keywords
Adenomatous Polyposis Coli; Child; Child, Preschool; Counselors; Female; Genetic Counseling; Genetic Testing; Hepatoblastoma; Humans; Infant; Liver Neoplasms; Male; Self Report
Keywords
Colon cancer; FAP; Familial adenomatous polyposis; Hepatoblastoma; Pediatric genetic counseling
Recommended Citation
Lawson CE, Attard TM, Dai H, Septer S. Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening. J Genet Couns. 2017;26(3):586-593. doi:10.1007/s10897-016-0030-2
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