ASH Announces Partnership with UNC to Curate Genomic Data for Blood Disease Research

In partnership with UNC School of Medicine researchers led by Jonathan Berg, MD, PhD, the American Society of Hematology is supporting two expert review panels that will analyze the clinical significance of variants and mutations understood to be associated with myeloid malignancies and platelet disorders with the goal of aiding in their interpretation on diagnostic genetic tests.

ASH Announces Partnership with UNC to Curate Genomic Data for Blood Disease Research click to enlarge Jonathan Berg, MD, PhD

(WASHINGTON, April 5, 2018) — The American Society of Hematology (ASH) today announced a partnership with the University of North Carolina at Chapel Hill -- National Institutes of Health (NIH) Clinical Genome Resource (ClinGen) grantee -- to develop a broad and accessible compendium of genomic data aimed at improving the diagnosis of some blood cancers and disorders.

“Over the last decade, a remarkable number of genetic variations associated with the development of hematologic disorders have been discovered,” said Jorge DiPaola, MD, of the University of Colorado, and chair of one of two hematology expert panels that will drive this effort. “Our goal is to one day improve hematologists’ ability to diagnose and treat patients with these diseases.”

In partnership with UNC School of Medicine researchers, ASH is supporting two expert review panels that will analyze the clinical significance of variants and mutations understood to be associated with myeloid malignancies and platelet disorders with the goal of aiding in their interpretation on diagnostic genetic tests. The processes and tools developed by the NIH-funded ClinGen Consortium will be used to facilitate the evaluation process.

“We are tremendously excited to be able to partner with ASH, to tap into the deep expertise that exists within the Society, and foster new expert curation groups,” said Jonathan Berg, MD, PhD, associate professor of genetics at the UNC School of Medicine. “This collaboration exemplifies the kinds of interactions that will engage the community and help to expand and sustain ClinGen over the long term.”

The results of this effort will be shared with the scientific community through ClinVar, a publicly available NIH database that houses data on genetic mutations submitted by laboratories nationwide.

“It is my hope that by generating such conclusive data, and by making it so broadly accessible, these results will be useful to physicians and scientists all around the world as they seek to better understand the genetic mutations associated with these diseases,” said Lucy Godley, MD, PhD, of the University of Chicago, who will chair the expert panel tasked with analyzing and curating the genetic variances that increase a person’s predisposition to develop myeloid malignancies. This work will be done as part of the ClinGen Hereditary Cancer Clinical Domain Working Group chaired by Sharon Plon, MD, PhD, of Baylor College of Medicine in Houston, Texas.

ASH’s participation in the effort is part of a larger Precision Medicine Initiative that the Society undertook to improve genomic profiling of hematologic diseases and identify strategies to improve the use of molecular data in clinical care, research, and education.

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