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Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not had RET gene testing, as well as patients who had positive RET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation. The query identified 142 patients with MTC. Fifty-six (40%) of those patients had not had the RET testing that all endocrine professional groups recommend. Forty-nine patients were eligible for the outreach, and, from this, 14 patients were scheduled for genetic counseling. Of the 94 individuals at our institution who had RET genetic testing, 25 (27%) were positive for a mutation. Of the 82 apparently sporadic cases, 13 (16%) carried a RET mutation. A family history of endocrine cancer and younger age at diagnosis significantly increased the risk carrying a RET mutation. However, approximately half of RET-positive patients did not have a significant family history of cancer and one-third were over age 50 at diagnosis. This study concludes that a significant proportion of patients with MTC are not receiving standard of care genetic testing and reinforces previous research that sporadic-appearing cases of MTC are often, in fact, hereditary.

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Authors and Affiliations

  1. Genetics Department, Southern California Kaiser Permanente, 6041 Cadillac Ave, Los Angeles, CA, 90034, USA

    Emily Parkhurst, Elise Calonico & Sridevi Abboy

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  1. Emily Parkhurst
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  2. Elise Calonico
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  3. Sridevi Abboy
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Correspondence to Elise Calonico.

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Conflict of Interest

Emily Parkhurst, Elise Calonico, and Dr. Sridevi Abboy declare that they have no conflict of interest.

Human Studies and Informed Consent

This study was approved by and conducted according to the ethical standards of the Institutional Review Board of Kaiser Permanente. All applicable international, national, and/or institutional guidelines were followed. The IRB approved this study without requiring informed consent from the participants. No identifying information was obtained.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

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Parkhurst, E., Calonico, E. & Abboy, S. Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience. J Genet Counsel 27, 1411–1416 (2018). https://doi.org/10.1007/s10897-018-0273-1

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  • DOI: https://doi.org/10.1007/s10897-018-0273-1

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