Genomics Pathway


193015 Clinical Laboratory Genomics: Practical NGS for Laboratorians

Genetic testing using next-generation sequencing is advancing precision medicine. This session will describe key aspects of quality control, quality assurance, and regulatory considerations for NGS, the relative advantages and limitations of targeted versus comprehensive NGS tests, and NGS data analysis, especially interpreting variants in the context of diagnosing hereditary disorders. The speakers will use interactive case studies to emphasize the essential components of each topic. Learn more.

11002 Consumer Genomics, Direct-to-Consumer Genetic Testing, and Patient Empowerment

Consumer-initiated genetic testing is experiencing exponential growth with many new applications in the areas of health, wellness, and entertainment. However, while the uptake of these tests is high, the limitations of consumer genetic testing may not be well-understood by most consumers. During this session, two renowned experts in the field will discuss nuances between the different types of tests, regulatory aspects, clinical validity and utility, and how consumer genetic testing fits into medical care. Learn more.


32223 Chair Invited Session: Race, Genomics and Medicine

Historically, the practice of medicine has used race as a biologic variable in diagnosing, managing and treating patients. Race continues to be used as a factor in the practice of medicine and in scientific research; however, it has become clear that race as a biologic variable is not supported by genomics. This session will cover the history of race-based medicine, the current health disparities in genomic medicine, and the future of genomics research. Learn more.


63101 Using Biomarkers to Tailor Treatment for Breast Cancer

This session will provide an excellent opportunity for attendees to meet with plenary speaker Virginia Kaklamani, MD, DSc, in a more intimate setting and listen to her discuss her talk "Using Biomarkers to Tailor Treatment for Breast Cancer." Learn more.

33109 Clinical Chemistry’s Hot Topics of 2019

Advancements in genetic testing technologies that enable direct-to-consumer testing and the continuous evolution of clinical mass spectrometry are the subject of numerous highly cited articles published in Clinical Chemistry. These advances will be discussed in this session. Learn more.

33223 Quality Indicators That Determine the Performance of NGS Assays in Precision Oncology

Next-Generation Sequencing (NGS) oncology assays characterize multiple genomic variants including Single Nucleotide Variants (SNV), indels, fusions, copy number alterations and other measures such as microsatellite instability (MSI) and tumor mutation burden (TMB). Variables such as tissue fixation, cellularity, quantity, quality and heterogeneity complicate the analytical performance of NGS assays. As the breadth of information interrogated in tumors increases, the need to select QA/QC metrics that ensure optimal functioning at multiple levels poses challenges. QA/QC metrics should ensure that the sequencing data obtained is reliable for interpretation of variants in clinical reports. Quality indicators—customizable depending on the type of NGS assay—aim to ensure optimal performance. Examples include specimen selection, sequencing qualifiers, inter-assay variability, control monitoring, and variant classification. This session will help identify the QC metrics to address specific indications queried in NGS assays. Specific examples will be utilized to demonstrate how QC monitoring can identify performance and trends through the NGS process. Learn more.


44128 or 54228 Pharmacogenomics and Mass Spectrometry in the Clinical Lab: A Fledgling Partnership

This session will provide a brief overview of our current understanding of pharmacogenomics, how these studies relate to addiction susceptibility, and how pharmacogenomic data might be used to avoid adverse-drug reactions. Analytic methods by MALDI-MS and the subsequent data analysis will be highlighted. Learn more.