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Updated: Sep 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genomics update 2022: Clinician and patient hot topics
Kenneth Wysocki1, Diane Seibert2
1Optum House Calls, United Health Care, Edina, Minnesota.
Abstract:
Advances in genomics research and clinical applications continue to accelerate. Coupled with the availability of direct-to-consumer (DTC) marketing of genetic testing and new discoveries, patients are increasingly coming into primary care with genomic questions. This article offers a snapshot of the kinds of questions patients are asking and that providers should be prepared to discuss such as what to do with DTC results or whether pharmacogenetics testing would help make sure "the right" medication is prescribed. Clinicians should understand the value of clinical guidelines (and where to find them), how to find a genetic specialist, what's happening with gene editing (to include gene sequencing), what's on the horizon in cancer care, and what the future might hold.
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