Actionability

Aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.

Subgroups Documents Tools Membership

Mission statement

Aims to inform decisions concerning return of secondary genomic findings and polygenic risk scores by development of evidence-based assessments of clinical actionability

Goals

  1. Develop rigorous and standardized procedures for categorically defining secondary genomic findings’ and polygenic risk scores’ clinical actionability, which includes evidence of clinical interventions that can improve health outcomes.
  2. Engage the community to nominate genetic conditions for clinical actionability scoring.
  3. Produce evidence-based reports, semi-quantitative metric scores, and actionability assertions using a standardized method.
  4. Make actionability resources publicly available to aid broad efforts for prioritizing genetic conditions with the greatest relevance for clinical intervention.
  5. Maximize the impact of clinical actionability evidence across diverse populations.
Chairs
Adam Buchanan, MS, MPH, CGC
Jessica Ezzell Hunter, MS, PhD
Iftikhar Kullo, MD
Kandamurugu Manickam, MD, MPH, FACMG
Bradford Powell, M.D., Ph.D.
Coordinators
Please contact a coordinator if you have questions.
Chris Catlin
[email protected]
Kristy Lee, MS, CGC
[email protected]
Stefan Massimino, MSc
[email protected]
Sydney Varga, BS
[email protected]

Subgroups

Documents

Tools & Resources

  • ClinGen Actionability Working Group Topic Nomination Form
    ClinGen Actionability Working Group Topic Nomination Form

    To submit a gene-condition topic to the ClinGen Actionability WG for consideration, please complete this form. Provide as much detail as you have. Please submit a separate form for each gene-condition topic you would like to nominate.

    Website
  • Clinical Actionability Tools
    Clinical Actionability Tools

    Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known. The interface is currently restricted to Clinical Actionability curators.

    Curations Interface

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators

Past Members