Erschienen in:
07.01.2019 | ASO Author Reflections
ASO Author Reflections: Informing Patients About New Genetic Testing
verfasst von:
Minerva A. Romero Arenas, MD, MPH, Elizabeth G. Grubbs, MD, FACS
Erschienen in:
Annals of Surgical Oncology
|
Sonderheft 3/2019
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Excerpt
Over the past two decades, significant advances have been made in the understanding of the hereditary basis of many diseases, including pheochromocytoma or paraganglioma (PPGL), and medullary thyroid carcinoma (MTC). Current guidelines recommend that all patients diagnosed with MTC and PPGL be offered germline genetic testing (GT) and counseling services.
1–3 In fact, use of a validated targeted gene panel for identification of hereditary PPGL is now recommended.
4 Genetic testing is now routinely incorporated into the diagnostic workup of patients to provide appropriate screening for related neoplasms if a mutation is identified, and to identify at-risk relatives through predictive genetic testing. However, no guidelines exist regarding physicians’ duty to inform former patients about novel genetic tests that may be medically beneficial. To our knowledge, this is the first study
5 to evaluate the impact of notifying patients that genetic testing has evolved and that they may benefit from obtaining or repeating genetic testing for a clinical condition. …
