Subcommittee on Precision Medicine
Lucy Godley, MD,PhD ('22)
Matthew J. Walter, MD ('22)
John C. Byrd, MD ('22)
Jorge Di Paola, MD ('23)
Benjamin L. Ebert, MD,PhD ('22)
Ann-Kathrin Eisfeld, MD ('24)
Willem E. Fibbe, MD ('22)
Torsten Haferlach, MD,PhD ('22)
Caroline A. Heckman, PhD ('24)
Ross Levine, MD ('22)
Charles G. Mullighan, MD ('24)
Steven Z. Pavletic, MD ('22)
Andrew W. Roberts, MBBS,PhD ('24)
Akiko Shimamura, MD,PhD ('22)
David Peter Steensma, MD ('23)
Kimberly Stegmaier, MD ('22)
Jeffrey W. Tyner, PhD ('23)
Faith Davies, MD ('24) -
Jonathan Gerber, MD ('24) -
Gabriella Ryan, PhD
The increased use of genome sequencing and genomic profiling in research and clinical settings has significantly improved the diagnoses and treatment of hematologic diseases by identifying unique genomic variations. Such variations are investigated to identify contributors to disease and can be exploited through creation of gene-based targeted therapeutic approaches. ASH has an ongoing interest in enhancing precision medicine and genomic profiling of all hematologic diseases.
The Subcommittee on Precision Medicine, a subcommittee of the Committee on Scientific Affairs, aims to improve the use of genomic data in clinical care, research, and education. The subcommittee has an ongoing multi-institution collaboration with ClinGen (the Clinical Genome Resource program supported and administered by the National Genome Research Institute within the National Institutes of Health) on developing and implementing variant curation rules for genes conferring risk for inherited myeloid malignancies and platelet disorders. Curated variants for germline mutations, RUNX1, ITGA2B, and ITGB3 are routinely being deposited to ClinVar, a publicly available resource that collects curated variant information for use by the research and practice communities. The subcommittee is also collecting data on somatic gene mutations routinely screened for in heme malignancies. This somatic effort is a collaboration among several institutions with gene variant information being displayed on the ASH website for fast dissemination to the hematology community.
The Subcommittee on Precision Medicine has identified the following goals and priorities:
· Continue the collaboration with ClinGen on the curation of variants for malignant and non-malignant hematologic disorders.
· Expand the curation of variants to include actionability recommendations to the practicing hematologist.
· Expand the curation of variants by using AI (artificial intelligence) and machine learning on whole genome, saturation mutagenesis, and structural data sets to help ascertain the impact of genetic variants on phenotype.
· Develop resources aimed at the use of AI and machine learning to help address the etiology and progression of heme disorders.
· Develop resources on utility of bioinformatics and cloud-based tools for the interpretation of variants during the process of genetic testing.
· Develop resources on the applicability and utility of germline testing and advocate for its access and reimbursement.
The chair and vice chair each serve one-year terms with the immediate past chair serving another one-year term on the subcommittee as a member. If not already a member of the Committee on Scientific Affairs, the Chair of the Subcommittee on Precision Medicine serves as a liaison to the Committee on Scientific Affairs.
Members of the Subcommittee on Precision Medicine are appointed to three-year staggered terms (with the possibility of renewal once) and include experts focused on both malignant and non-malignant hematology. The membership includes liaison members from the Committee on Educational Affairs and the Committee on Practice.
Members of the Subcommittee on Precision Medicine are required to participate in regularly scheduled conference calls and possibly one in-person meeting if deemed necessary.