Advancing excellence in laboratory medicine for better healthcare worldwide

Guidance for the Implementation of Custom-made Genomic Panels (WG-GCP)


NamePositionCountryTermTime in Office
J. MorrissetteChairUS1st2019 06 - 2021 12
OO. SoriyanMemberNG
C. PaolilloMemberUS
M. EwaltMemberUS
C. SantonocitoMemberIT
M. E. MarmarelisMemberUS
M. CarrollMemberUS
M. MurthyMemberBW
YM MarteiMemberBW
C. DaviesMemberUS
J. SegalMemberUS
R. T. SussmanMemberUS
C RushtonMemberUS

The IFCC Emerging Technology Division (ETD) is dedicated to providing current awareness for emerging technologies likely to have important clinical diagnostic applications in the near future. One of those technologies is Next Generation Sequencing (NGS), which allows the detection of variants in large numbers of genes in a massively parallel fashion.  The detection of these variants in tumor tissue can be diagnostic, prognostic, and/or predictive for therapeutic response.  In many large academic institutions, NGS testing is performed on most tumor samples and when appropriate, the results are linked to therapy as standard of care.  However, genomic testing of tumor samples is not well established in the community hospital setting and is largely not performed in emerging nations.

Terms of Reference

Provide a regularly updated perspective on the clinical diagnostic applications of NGS over the next 3 years through both the creation of a webpage and the publication of manuscripts to:

    1. assist clinical laboratories in developing in-house NGS programs,
    2. model ways to provide mutation detection,
    3. improve detection linked to therapies for those in emerging nations.

Current projects

a) Create and add content to a current awareness webpage on genomics:

1. Genomics educational section

a. Seminal papers: Genomics review articles; Circulating Tumor DNA; Tumor heterogeneity; Fusion Detection; Minimal Residual Disease; Tumor Mutational Burden; Immunotherapy; Clonal Hematopoiesis of Indeterminate Potential

b. Webinars, Podcasts and Educational resources

c. Guidelines

2. Industry partners and technologies of interest

a. FDA approved/cleared molecular diagnostic test

b. Industry partners

3. Clinical Validation of a NGS assay

a. Manuscripts delineating best practices

b. Tools to determine assay performance

4. Best practice: links to common equipment used in NGS

a. Wet Lab

b. Bioinformatics

c. Reporting

d. Clinical treatment guidelines

b) A manuscript of best practices for validation of clinical NGS and reporting, based on the seminal papers in the field, with links to the IFCC website.

c) Manuscript based on IFCC survey results on current needs and best practices for moving genomics into emerging nation settings

d) Identification of an appropriate hospital or clinic in an emerging nation(s) to implement genomic testing associated with targeted therapy in the oncology setting.

Working Group Chair's contact

Prof. Jennifer J.D. Morrissette, Ph.D., FACMG
Scientific Director, Clinical Cancer Cytogenetics
Clinical Director, Center for Personalized Diagnostics
Associate Professor of Clinical Pathology and Laboratory Medicine
Division of Precision and Computational Diagnostics
Department of Pathology, University of Pennsylvania
3020 Market Street
Philadelphia, PA 19104

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