Date of Award

2018

Document Type

Open Access Thesis

Department

Genetic Counseling

Sub-Department

School of Medicine

First Advisor

Whitney Dobek

Abstract

Cancer predisposition syndromes (CPS), caused by germline pathogenic variants in tumor suppressor genes and oncogenes, are genetic conditions that put an individual at increased risk to develop cancer. It is estimated that 10-15% of children with cancer have an underlying CPS. Although genetic testing for these conditions has become routine in the adult setting, incorporation of germline genomic technologies into pediatric cancer care has not occurred as rapidly. The purpose of this study is to assess desire for genetic counseling and testing services among parents of children with cancer to provide parental insight in the incorporation of genomic technologies in this health care setting. Forty-two parents of individuals diagnosed with cancer less than 18 years of age completed either a paper (n=8) or online survey (n=34) regarding their child's cancer history, personal perspectives on genetic counseling, and family/demographic information. Interest in genetic testing for CPS was variable, with 50% of respondents indicating they would be interested in pursuing genetic testing for their affected child while one-third of respondents indicated that they were unsure if they would pursue genetic testing. The factors most commonly cited as impacting interest in genetic counseling/testing include the potential for modification of medical care for family members and for the child’s treatment based on results. A subset of parents expressed that concerns for genetic discrimination and potential negative impact on mental health would negatively influence their interest in genetic testing for CPS. Genetic counselors have an ideal skillset to help families weigh the benefits and drawbacks of genetic testing for CPS in childhood in order to facilitate decision-making among this population as the availability and clinical utility of genomic testing increases.

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