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Front. Pediatr. | doi: 10.3389/fped.2017.00252

Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience

  • 1Pediatrics, University of Chicago Medical Center, United States
  • 2Section of Hematology/Oncology/Department of Medicine, Pritzker School of Medicine, University of Chicago, United States

With the increasing use of clinical genomics to guide cancer treatment and management, there is a rise in the identification of germline cancer predisposition syndromes and a critical need for patients with germline findings to be referred for surveillance and care. The University of Chicago Hematopoietic Malignancies Cancer Risk Team has established a unique approach to patient care for individuals with hereditary hematologic malignancies through close communication and coordination between our pediatric and adult programs. Dedicated program members, including physicians, nurses, genetic counselors, and clinical research assistants, screen individuals for cancer predisposition at initial diagnosis through survivorship, in addition to testing individuals with an established family history of a cancer predisposition syndrome. Sample procurement, such as a skin biopsy at the time of bone marrow aspirate/biopsy in individuals with a positive screen, has facilitated timely identification of clinical germline findings or has served as a pipeline for translational research. Our integrated translational research program has led to the identification of novel syndromes in collaboration with other investigators, which have been incorporated iteratively into our clinical pipeline. Individuals are referred for clinical assessment based on personal and family history, identification of variants in susceptibility genes via molecular tumor testing, and during evaluation for matched related allogeneic stem cell transplantation. Upon referral, genetic counseling incorporates education with mindfulness of the psychosocial issues surrounding germline testing at different ages. The training and role of genetic counselors continues to grow, with the discovery of new predisposition syndromes, in the age of improved molecular diagnostics and new models for service delivery, such as telemedicine. With the identification of new syndromes that may predispose individuals to hematologic malignancies, surveillance guidelines will continue to evolve and may differ between children and adults. Thus, utilizing a collaborative approach between the pediatric and adult oncology programs facilitates care within families and optimizes the diagnosis and care of individuals with cancer predisposition syndromes.

Keywords: germline predisposition, Inherited mutation, hereditary hematopoietic malignancy, Familial mutation, Genetic Counseling, Genetic risk assessment

Received: 22 Aug 2017; Accepted: 10 Nov 2017.

Edited by:

Sarah K. Tasian, University of Pennsylvania, United States

Reviewed by:

Hélène Cavé, Assistance publique - Hôpitaux de Paris, Université Paris Sorbonne Cité, France
Todd E. Druley, School of Medicine, Washington University in St. Louis, United States  

Copyright: © 2017 Desai, Perpich and Godley. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Lucy A. Godley, Pritzker School of Medicine, University of Chicago, Section of Hematology/Oncology/Department of Medicine, 5841 S. Maryland Ave., MC 2115, Chicago, 60637, IL, United States,