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 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:
- Germline Variants for
- Germline Variants for
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 .
- 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 in its journal Blood. The review series covers the most pressing topics in precision medicine, including those listed below.
Benjamin L. Ebert
Justin Taylor, Wenbin Xiao, and Omar Abdel-Wahab
Lucy A. Godley and Akiko Shimamura
Frank C. Kuo, Brenton G. Mar, R. Coleman Lindsley, and Neal I. Lindeman
Florian Scherer, David M. Kurtz, Maximilian Diehn, and Ash A. Alizadeh
Mark A. Jensen, Vincent Ferretti, Robert L. Grossman, and Louis M. Staudt
Jonathan M. Marron and Steven Joffe
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].