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Clinical Practice Committee Working Groups
clinical practice committee

Clinical Practice Committee - Genetics Working Group

Current Projects

Variant Interpretation Test Across Labs (VITAL)

This project’s focus is to gauge the extent of adoption and implementation of the ACMG-AMP-CAP developed Interpretation of Sequence Variants in Inherited conditions guideline. Chaired by Dr. Elaine Lyon (ARUP) and funded by an unrestricted educational grant from QIAGEN, Inc.

Gene Level Copy Number Variations Assessment

The project's focus is on providing recommendations for the analysis of gene level Copy Number Variations (CNV) by Next Generation Sequencing methodology. Chaired by Dr. Madhuri Hegde (Emory).

Standardization of Clinically Relevant Pharmacogenetic Alleles

This primary goal of this project is the standardization of the alleles that are tested in pharmacogenetic (PGx) assays. Chaired by Dr. Victoria Pratt (Indiana University).

GIAB Consortium

AMP is a member of the Genome In A Bottle (GIAB) Consortium. Dr.Monica Basehore (Fulerton Genetics Laboratory/Mission Health) is AMP's liaison.


Past Projects

Reporting Incidental Findings in Genomic Scale Clinical Sequencing: A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology. 

Chaired by Dr. Madhuri Hegde (Emory). Manuscript published in March 2015 issue of JMD.


Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

ACMG and AMP joined forces to pubmish the recommendations for the interpretation of sequence variants in Inherited Conditions. Report published in the March 2015 issue of Genetics in Medicine. Project chaired by Dr. Sue Richards (Oregon Health and Science University).


Whole Genome Analysis Working Group

Chaired by Jane S. Gibson, PhD (University of Central Florida College of Medicine) , AMP's Whole Genome Analysis (WGA) Working Group was comprised of individuals representing diverse technical and clinical expertise in multiple aspects of whole genome analysis. The WGA reported through the Clinical Practice Committee and had as its charge to:

  1. Assemble and contribute guidance concepts reflect AMP's commitment to excellence in the application of Whole Genome Analysis to various fields of molecular pathology and that comprehensively address the broad spectrum of complexities associated with responsible, quality provision of these services in a clinical setting.
  2. Participate collaboratively in current conference-based discussions among various professional societies and governmental entities relating to development of standards and guidelines for implementation of this technology, and
  3. Reinforce the importance of AMP's role in the evolving international discussions relating to adoption of WGA for clinical use.
In 2014, the Board of Directors determined that the WGA had successfully moved the potentially disruptive technology of NGS into the realm of clinical practice. The functions of the WGA have been incorporated into the Clinical Practice Committe's projects and workgroups.


AMP's Approach to Supporting a Global Agenda to Embrace Personalized Genomic Medicine

In April 2014, the WGA Working Group conducted a survey assessing the reference material needs for analytical validation and alternative assessment of both AMP members and the international community. The results of these surveys can be accessed below: