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Virtual Workshop: Measures of Somatic Mutation-related Clonal Hematopoiesis in Humans: Enhancing Contributions to Clinical, Epidemiologic, and Genetic Aging Studies


March 24, 2021: 11am-4pm, ET

March 25, 2021: 11am-2:45pm, ET

Sponsored by: NIA's Division of Geriatrics and Clinical Gerontology and Division of Aging Biology

The overall purpose of this workshop was to gain knowledge on the prevalence of clonal expansion of hematopoietic cells associated with somatic mutations as a function of age in humans and the evolution of technologies to analyze these mutations in human specimens. The term “clonal hematopoiesis of indeterminate potential” (CHIP) has been applied to a subset of such clones in which known genetic drivers of hematologic malignancies are found. However, mutations in many other genes are associated with clonal expansion in the absence of CHIP. Both these types of clonal hematopoiesis (CH) have been associated with increased mortality risk and cardiovascular disease risk in addition to risk of hematologic malignancies. With the rapid development of genomic technologies, a variety of options are available to assess these types of clonal hematopoiesis in human population studies focusing on exceptional longevity and age-related diseases and clinical trials testing interventions for health and life span. This provides opportunities to assess the clinical significance of differing mutations occurring in differing blood cell types for a variety of age-related outcomes, and to assess physiologic factors, environmental exposures, and germline genetic risk factors for the development of clonal hematopoiesis.  

This 2-day workshop included three different sessions focused on clonal hematopoiesis/somatic mutations and aging phenotypes in human cohorts, novel technologies that could potentially be used in clinical specimens and the implementation of these technologies in longevity studies and translational (intervention) studies for biomarker discovery and therapeutic targets. The final session discussed opportunities to address research issues such as: 

  • Selection of sequencing technique(s) in differing types of studies.  
  • Relationship of differing CH mutations to associated aging physiologic and clinical phenomena at differing ages 
  • Potential differential effects of CH in differing blood cell subpopulations on aging changes. 
  • Relationship of risk of CH somatic mutations to differing human germline variants, particularly those influencing aging changes.  
  • Relationship of modifiable risk factors to development of CH mutations and rate of expansion of CH clones with age.  
  • Improving the evidentiary basis regarding options for health care of persons with CHIP
  • Analysis of data from planned, current, or completed trials on age-related outcomes to clarify the potential benefits and harms of using CHIP assessment to influence treatment decisions, by assessing the relationship of CHIP to treatment effect.

View the agenda, abstracts, and speakers in the workshop program and read the workshop report.

Contact Information

Please contact Kathleen Mercure, MHSA [c] for questions you may have about the workshop.

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