Genetic Evaluation of Patients and Families with Concern for Hereditary Tumor Syndromes Within the OSU James Multidisciplinary Neuroendocrine/thyroid Cancer Clinic

Released on by Jennifer Leigh Gauerke
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  • Genetic Evaluation of Patients and Families with Concern for Hereditary Tumor Syndromes Within the OSU James Multidisciplinary Neuroendocrine/thyroid Cancer Clinic Book Detail

  • Author : Jennifer Leigh Gauerke
  • Release Date : 2019
  • Publisher :
  • Genre : Endocrine glands
  • Pages : 80
  • ISBN 13 :
  • File Size : 73,73 MB
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Genetic Evaluation of Patients and Families with Concern for Hereditary Tumor Syndromes Within the OSU James Multidisciplinary Neuroendocrine/thyroid Cancer Clinic by Jennifer Leigh Gauerke PDF Summary

Book Description: Hereditary endocrine tumor syndromes are rare genetic conditions with many overlapping features. It is imperative that healthcare providers recognize and differentiate between these syndromes to ensure proper care of patients. Recent advances in genetic testing technologies has increased utilization of genetic counseling and testing in this field, however few guidelines on referral and testing criteria exist. Two years ago, a genetic counselor specializing in endocrine genetics was added to the multidisciplinary team of the James Neuroendocrine/Thyroid Clinic at OSU. In this study, we report on this unique experience of embedded genetic counseling and evaluation services. Additionally, we provide an overview of current practice patterns in endocrine genetics. In total, 358 patients were referred and seen by the genetic counselor over a two-year time period. The majority of patients were referred by medical oncology (n=204; 57%) for a personal history of disease (n=249; 81%). The most common referral indications were pancreatic neuroendocrine tumors (n=44; 17%), multiple primary tumors in the same individual (n=37; 14%), and pheochromocytoma/paraganglioma (n=35; 14%). The majority of patients pursued and completed genetic testing after genetic counseling (n=200; 65%). The most common type of genetic testing ordered was targeted panel testing based on the patients’ individual tumor type/symptoms (n=98; 32%). Thirty patients (15%) had at least one likely pathogenic variant (LPV) or pathogenic variant (PV) identified. Of the patients that had a LPV/PV identified, approximately 37% (n=11) did not meet current genetic evaluation and/or testing guidelines. The most common genes with LPV/PV results were the SDH genes (n=8) and MEN1 (n=6). Referral indications that yielded the highest rate of positive results were paraganglioma, medullary thyroid carcinoma (MTC), and multiple primary tumors. Based on our review and clinical experience, we believe there is a lack of clear guidelines for genetic evaluation, testing, and management in the endocrine genetics field that needs to be addressed. Given this lack of guidelines, the data from our clinic can provide valuable guidance to other healthcare professionals who see endocrine patients or are seeking to establish hereditary endocrine cancer clinics.

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