Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

ABSTRACT:

Objective

To demonstrate experience and feasibility of a precision medicine approach for patients with unexplained cytopenias, defined as low blood counts in one or more cell lineages, persistent for 6 months or longer, in the absence of known nutritional, autoimmune, infectious, toxic, and neoplastic (secondary) causes.

Patients and methods

Patients were evaluated in our clinic between November 8, 2016, and January 12, 2018. After a thorough evaluation of known causes, family history, and appropriate clinical assays, genomic evaluation was performed in a stepwise manner, through Sanger, targeted, and/or whole-exome sequencing. Variants were analyzed and discussed in a genomics tumor board attended by clinicians, bioinformaticians, and molecular biologists.

Results

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SUBMITTER: Mangaonkar AA 

PROVIDER: S-EPMC6728219 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature