Abstract
We set out to identify and offer genetic testing to the 5%-10% of pediatric cancer patients who have been estimated to carry germline mutations in inherited cancer predisposition syndromes. Clinical genetic testing has become widely available, and thus in busy oncology clinics, tools are needed to identify patients who could benefit from a referral to genetics. We studied the clinical utility of administering a family history form in the pediatric oncology long-term follow-up clinic to identify patients who might have an inherited cancer predisposition syndrome. Genetic testing involved primarily Sanger sequencing in clia (Clinical Laboratory Improvement Amendments)-certified laboratories. Of 57 patients who completed forms, 19 (33.3%) met criteria for referral to genetics. A significant family history of cancer was present for 4 patients, and 12 patients underwent genetic testing. Of 18 genetic tests ordered, none identified a pathogenic mutation, likely because of a small sample size and a candidate-gene approach to testing. Three families were also identified for further assessment based on a family history of breast cancer, with two of families having members eligible for BRCA1 and BRCA2 testing. Genetic testing in pediatric oncology patients is important to guide the management of patients who have an inherited cancer predisposition syndrome and to identify other family members at risk when mutations are identified. When no mutations are identified, that information is often reassuring to families who are worried about siblings. However, in the absence of an identified genetic cause in a patient, some uncertainty remains.
Highlights
More than 100 cancer predisposition genes have been shown to increase the risk of cancer[1], and up to 10% of pediatric oncology patients are thought to harbour a germline mutation[2]
Genetic testing in pediatric oncology patients is important to guide the management of patients who have an inherited cancer predisposition syndrome and to identify other family members at risk when mutations are identified
We ordered a total of 18 genetic tests for 12 patients and did not identify any pathogenic mutations (Table i)
Summary
More than 100 cancer predisposition genes have been shown to increase the risk of cancer[1], and up to 10% of pediatric oncology patients are thought to harbour a germline mutation[2]. Genetic testing that identifies a hereditary cancer predisposition syndrome answers both of those questions, but is important to establish the proper management, screening, and risk counselling for other family members[1,4]. Genetic testing for pediatric oncology patients is rapidly becoming a standard of care, and yet many clinicians are unclear about who would benefit, and currently, few guidelines outline referral criteria[1,5]. Studies have advocated for the addition of genetic counselling to routine care in pediatric oncology follow-up clinics
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