Using family history forms in pediatric oncology to identify patients for genetic assessment

  • A. Hamilton Children’s Hospital of Eastern Ontario Research Institute
  • E. Smith Children’s Hospital of Eastern Ontario
  • J. Hamon Children’s Hospital of Eastern Ontario, University of Ottawa
  • E. Tomiak Children’s Hospital of Eastern Ontario Research Institute; Children’s Hospital of Eastern Ontario
  • M. Bassal Children’s Hospital of Eastern Ontario Research Institute; Children’s Hospital of Eastern Ontario, University of Ottawa
  • S.L. Sawyer Children’s Hospital of Eastern Ontario Research Institute; Children’s Hospital of Eastern Ontario
Keywords: Cancer genetics, genomics, inherited cancer predisposition syndromes, pediatric oncology, family Histories, pediatric genetic testing

Abstract

Objective

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.

Methods

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.

Results

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.

Conclusions

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.


Author Biographies

E. Smith, Children’s Hospital of Eastern Ontario
Department of Genetics
J. Hamon, Children’s Hospital of Eastern Ontario, University of Ottawa
Division of Hematology/Oncology
E. Tomiak, Children’s Hospital of Eastern Ontario Research Institute; Children’s Hospital of Eastern Ontario
Department of Genetics
M. Bassal, Children’s Hospital of Eastern Ontario Research Institute; Children’s Hospital of Eastern Ontario, University of Ottawa
Division of Hematology/Oncology
S.L. Sawyer, Children’s Hospital of Eastern Ontario Research Institute; Children’s Hospital of Eastern Ontario
Department of Genetics
Published
2017-12-20
How to Cite
Hamilton, A., Smith, E., Hamon, J., Tomiak, E., Bassal, M., & Sawyer, S. (2017). Using family history forms in pediatric oncology to identify patients for genetic assessment. Current Oncology, 24(6), e441-e445. https://doi.org/10.3747/co.24.3710
Section
Cancer Genetics