Research

Enhancing Genomic Profiling of Blood Diseases

Molecular profiling of DNA and RNA has provided valuable new insights into the genetic basis of non-malignant and malignant hematologic disorders as well as an increased understanding of basic mechanisms that regulate hematopoiesis. The increasingly widespread use of genome sequencing and genomic profiling has significantly improved the diagnoses and treatment of hematologic diseases by identifying unique variants that can be targeted with gene-based targeted therapeutic approaches.

ASH has an enduring interest in enhancing genomic profiling of all hematologic diseases. This is evident in the Society’s programs and activities supporting this research priority and in the creation of a dedicated Subcommittee on Precision Medicine aimed at improving the use of molecular data in clinical care, research, and education.

The Society’s efforts can be categorized in the following key themes:

Annotating Genomic Data

Increasingly, there are more technologies available to hematologists, such as next generation sequencing (NGS), that can be applied not only in research but also in a diagnostic setting by physicians. NGS allows researchers and clinicians to detect genetic mutations that could be associated with disease progression (e.g., carrying out genomic profiling of patient samples). While many mutations have been documented, few have undergone rigorous literature and experimental review as part of curation practices to indicate causation, not just correlation to disease.

ClinGen Partnership

To help assign clinical significance to these mutations, ASH has created a partnership with a leading curation resource funded by the National Institutes of Health (NIH) Clinical Genome Resource (ClinGen). This resource has developed standardized methods for defining the clinical relevance and actionability of genes and variants; it has also standardized clinical annotation and interpretation of variants by expert panels. ASH is collaborating with ClinGen to support two expert panels for curation of germline mutations for predisposition to myeloid malignancies and platelet disorders. These efforts will be led by Lucy Godley, MD, PhD, of The University of Chicago and David Wu, MD, PhD of the University of Washington and Jorge DiPaola, MD, of Washington University and Wolfgang Bergmeier, PhD of University of North Carolina.

Completed variant interpretations are publicly available via the following links:

Publications

If you are interested in partnering with ASH, please contact [email protected].

Developing Reference Resources

Webinar Series on Precision Hematology

The webinar series is designed to provide clinicians and researchers in hematology foundational information on the latest technologies available for data acquisition, diagnosis, and decision making for hematologic diseases. Enroll or view previous recordings at ASH Academy on Demand.

  • Webinar Title:  Identification of Somatic Mutations 
    Tuesday, October 12, 2021 from 3:00 p.m. to 4:00 p.m. Eastern time
    Presenters: Jinghui Zhang, PhD, St. Jude Children’s Hospital
    Manja Meggendorfer, PhD, MBA, Munich Leukemia Laboratory
  • Webinar Title: Identification of Deleterious Germline Variants
    November 17, 2021 from 3:00 p.m. to 4:00 p.m. Eastern time
    Presenters: Jorge Di Paola, MD, Washington University in St. Louis
    Lucy Godley, MD, PhD, University of Chicago
    Moderator: Akiko Shimamura, MD, PhD, Dana-Farber Cancer Institute and Boston Children’s Hospital
  • Webinar Title: Reporting somatic variants to health care providers
    January 18, 2022 from 3:00 p.m. to 4:00 p.m. Eastern time Presenters: Annette Kim, MD, PhD, Dana-Farber Cancer Institute and Brigham And Women’s Hospital
    Eytan Stein, MD, Memorial Sloan Kettering Cancer Center
    Moderator: David Wu, MD, PhD, University of Washington
  • Webinar Title: Targeted treatment: Choose wisely and use of MRD
    February 28, 2022 from 9:00 a.m. to 10:00 a.m. Eastern time
    Presenters: Brent Wood, MD, Children’s Hospital, Los Angeles
    Peter Valk, PhD, Erasmus University
    Moderator: Nicola Gökbuget, MD, University Hospital in Frankfurt
  • Webinar Title: How to communicate genetic results to patients and their families
    April 19, 2022 from 4:00 p.m. to 5:00 p.m. Eastern time
    Presenters: Kayla Hamilton, MS, LCGC, Dana Farber Cancer Institute and Kim Nichols, MD, St. Jude Children's Research Hospital
    Moderator: Lucy Fox, MD, Peter MacCallum Cancer Centre/Royal Melbourne Hospital and Austin Health
  • Webinar Title: Reimbursement and Regulation
    July 2022
  • Webinar Title: Big data and AI in hematology research
    August 2022
  • Webinar Title: Big data and AI in hematology for clinical use
    September 2022
  • Webinar Title: Targeted treatment: A pharma pipeline
    October 2022

Blood Review Series on Precision Hematology

 

ASH is committed to enhancing the scientific understanding of precision medicine. In July 2017, the Society published a Precision Medicine Review Series in its journal Blood. The review series covers the most pressing topics in precision medicine, including those listed below.

Somatic Working Group Members

  • Elizabeth Azzato, MD, PhD, St. Jude Children’s Hospital
  • Rafael Bejar, MD, PhD, University of California – San Diego
  • Jorge Di Paola, MD, Washington University
  • Ben Ebert, MD, PhD, Harvard Medical School
  • Mark Ewalt, MD, University of Colorado, Denver
  • Torsten Haferlach, MD, Munich Leukemia Laboratory
  • Annette Kim, MD, PhD, Harvard Medical School
  • Michelle LeBeau, PhD, The University of Chicago
  • Elaine Mardis, PhD, Nationwide Children’s Hospital
  • Charles Mullighan, MBBS, MD, St. Jude Children's Research Hospital
  • Niroshan Nadarajah, Munich Leukemia Laboratory
  • Keyur Patel, MD, PhD, FCAP, The University of Texas MD Anderson Cancer Center
  • David Steensma, MD, Dana-Farber Cancer Institute
  • Alex H. Wagner, PhD, Nationwide Children’s Hospital
  • Matthew Walter, MD, Washington University in St. Louis
  • Ahmet Zehir, PhD, Memorial Sloan Kettering Cancer Center
  • Jinghui Zhang, PhD, St. Jude Children's Research Hospital

Germline Working Group Members

  • Emery Bresnik, PhD, University of Wisconsin
  • Ben Ebert, MD, PhD, Harvard Medical School
  • Lucy Godley, MD, PhD, The University of Chicago
  • Torsten Haferlach, MD, Munich Leukemia Laboratory
  • Marshall Horwitz, MD, University of Washington
  • Charles Mullighan, MBBS, MD, St. Jude Children's Research Hospital
  • Kim Nichols, MD, St. Jude Children's Research Hospital
  • Willem Ouwehand, MD, PhD, University of Cambridge
  • Sharon Plon, MD, PhD, Baylor College of Medicine
  • Akiko Shimamura, MD, PhD, Boston Children's Hospital

Questions?

For additional information about ASH’s precision medicine activities, please contact [email protected].