Which Patients With Neuroendocrine Tumors Should Have Genetic Testing?

Ultima Vez Modificado: 7 de enero del 2013

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What are the criteria for referral to a genetic counselor for genetic testing in the presence of NETs? Who should be tested?


Shana Merrill, CGC, Genetic Counselor at Penn Medicine responds.

First, I would like to note that sometimes people see a genetic counselor for evaluation and do not have genetic testing if it's not warranted after careful assessment. Although this list is not exhaustive, it covers the vast majority of cases appropriate for referral for genetic evaluation as related to NETs. Any and all individuals with a personal history of pheochromocytoma or paraganglioma should be referred for genetic evaluation; we tend to test all comers with that tumor type with testing being directed based on the patient's specific history. Any individual with a personal history of medullary thyroid cancer should be referred to a genetic counselor; all individuals of this nature should be tested for MEN2. Any individual who has a personal history of hyperparathyroidism requiring significant surgical intervention (typically 3 and 1/2 lobes removed) prior to the age of 50 should be referred to a genetic counselor for consideration of MEN1. Any individual with a personal history of a NET in the context of other family members also with a history of documented NETs should be referred to a genetic counselor for evaluation. Any individual with a personal history of other rare NET at a very young age or of multiple documented primary NETs in the same person should be referred for genetic evaluation. We evaluate referrals on a case by case basis and are happy to discuss the appropriateness of specific referrals with physicians or families as needed for unique cases not addressed above.

This question and answer was part of the OncoLink Brown Bag Chat Series. View the entire transcript from the Focus on Neuroendocrine Tumors Webchat.

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