ACMG Annual Clinical Genetics Meeting 2024 Presentations


Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature Review and Parallelized Evidence Curation

Sequencing of large gene panels, exomes and genomes in clinical diagnostics, has led to an exponential increase in the number of variants of uncertain significance. Additionally, with the commoditization of genome sequencing, newly characterized Gene-Disease Relationships (GDRs) are being published at an exponential pace. Despite the great progress made by multiple expert ClinGen working groups in identifying GDRs from >1900 genes, more work remains to fully characterize newly emerging GDRs from the scientific and medical literature and to stay current with the latest published evidence to keep designations up-to-date. For this study, we embarked on massively parallelized curation of all GDRs across all genes associated with the clinical exome using a gene-first approach facilitated by computational indexing of published evidence to ensure maximal sensitivity.


Mark Kiel, MD, PhD
Founder and Chief Scientific Officer


The Fully Curated Human Genome –
Implications for Improved Clinical Diagnostics for both Known and Novel Variants

Diagnosing rare genetic diseases using gene panels, clinical exomes, and whole genome sequencing requires rigorous methods of data analysis and interpretation in molecular diagnostics labs. Curating the entire human genome at the gene and variant level will have a significant impact on our understanding of human genetics and how to apply these insights for clinical care. In particular, systematic identification of all published variants and expert review of associated evidence is a critical component in the resolution of variants of uncertain significance (VUS) and will enable more rapid and accurate variant interpretation.

In this talk, Chief Science Officer and Founder, Dr. Mark Kiel will convey how this curation will accelerate the field of genomics, patient diagnosis, and precision medicine development. 

Following, Brittnee Jones, VP of Product Management, and Jeffrey Bissonnette, Senior Director of Genomic Curation, will deliver a comprehensive overview of Genomenon’s pioneering approach to curating the entire genome, providing insight into both known and novel variants.


Mark Kiel, MD, PhD
Founder and Chief Scientific Officer
Jeffrey Bissonnette, MSc, CGC Senior Director of Genomic Curation
Brittnee Jones, PhD
VP of Product Management and Product Strategy