Variant Interpretation Test Across Labs (VITAL)
This project’s focus is to gauge the extent of adoption and implementation of the ACMG-AMP-CAP developed Interpretation of Sequence Variants in Inherited conditions guideline. Chaired by Dr. Elaine Lyon (ARUP) and funded by an unrestricted educational grant from QIAGEN, Inc.
Gene Level Copy Number Variations Assessment
The project's focus is on providing recommendations for the analysis of gene level Copy Number Variations (CNV) by Next Generation Sequencing methodology. Chaired by Dr. Madhuri Hegde (Emory).
Standardization of Clinically Relevant Pharmacogenetic Alleles
The primary goal of this project is the standardization of the alleles that are tested in pharmacogenetic (PGx) assays. Chaired by Dr. Victoria Pratt (Indiana University).
Utility of Myeloid Mutations in Diagnosis and Prognosis of MDS, non-CML MPN, and MDS/MPN
The goal of this project is to provide a comprehensive review of the literature and expert opinion on the utility of mutations in diagnosis and prognosis for the other myeloid neoplasms (MDS, non-CML MPN, and MDS/MPN). Since many of these neoplasms are challenging to diagnosis initially, the potential for these newer mutations to aid in the establishment of an early diagnosis has far-reaching ramification within hematopathology. The project is chaired by Dr. Jennifer Crow (Huguely Pathology Consultants).