Genomics Pathway

If you are interested in learning more about genomics testing, check out these sessions at the all-virtual 2020 Annual Scientific Meeting & Clinical Lab Expo.

Monday

32106 Laboratory Automation in Molecular Diagnostics for Infectious Diseases and Oncology

Automation for molecular diagnostics is transforming the practice of medicine for molecular microbiology and molecular oncology tests. Molecular diagnostics has traditionally been a labor-intensive area and largely still is. The advent of low-throughput automation has accelerated the acceptance and implementation of some infectious disease tests into small clinics as such platforms are designed for a sample-to-result format. Additionally, automation has facilitated a shift of many molecular assays from high complexity to moderate complexity status. Learn more.

Wednesday

34102 External Quality Assessment, Alternative Assessment Procedures, and Critical Risk Values in Molecular Diagnostics: Findings of an International Survey by the IFCC C-MD

The rapid expansion of molecular diagnostic testing has exceeded the availability of external quality assessment (EQA) programs, which facilitate quality assurance for diagnostic laboratories. Although EQA schemes may not be available for all analytes, other processes such as alternate assessment procedures (AAP) can be used to insure patient safety when EQAs are not available. Similarly, the growth and diversity of molecular diagnostic test menus and service practices has created disharmony with practices for reporting critical and significant risk values. The IFCC's Molecular Diagnostic Committee performed an international survey in English and Spanish in order to understand differences in these areas. Learn more.

34113 Tumor Mutation Burden (TMB): A Potential Novel Biomarker for Therapeutic Selection

Tumor mutation burden (TMB) is a potential new biomarker for therapeutic selection of immuno-oncology drugs. The introduction of next generation sequencing for large gene panels also allows for the determination of a TMB score that has implications for a patient's therapeutic eligibility. There is conflicting evidence as to how to best determine TMB and how to interpret this result in the context of different tumor types. This session will introduce TMB and the technical/clinical challenges we face with its adoption as a novel biomarker. Learn more.

34232 Transforming Passive Laboratory Testing to Active Consultation in a Clinical Pharmacogenomic Service

Despite the critical role of pharmacogenomic (PGx) testing in guiding medication selection and the availability of direct-to-consumer tests with Food and Drug Administration (FDA) approval, the clinical practice of this testing in hospitals has been limited in the United States. In addition, the careful application of available clinical guidelines, such as those from the Clinical Pharmacogenetics Implementation Consortium (CPIC), remain one of the biggest challenges to bringing genomic data back to the patient and their healthcare team for management of medication decision-making. Learn more.

Thursday

35109 Selecting Suitable Indicators to Monitor the Pre and Post-Analytical Performance of Genomics Assays

Quality metrics should ensure that the data obtained from genomic assays is accurate for selection of variants with clinical utility. In some cases, the pre and post-analytical phases of NGS assays are subject to greater variability than the analytical phase of the assay. Customized quality indicators are needed to ensure optimal performance. These indicators include but are not limited to - specimen selection, sequencing qualifiers, inter-assay variability, control monitoring and variant classification. This interactive session will help to select QC indicators to identify performance specific to sample quality, library preparation, bioinformatics and interpretation of NGS variants. We will use examples to demonstrate how QC monitoring can identify performance and trends through the NGS process. Learn more.

35225 If at First You Don’t Succeed: An interactive Case-Based View of Emerging Molecular Technologies

DNA-based molecular technologies are becoming synonymous with precision medicine; however, these tests don’t have all the answers. This session will be an interactive, case-based workshop that will describe approaches to molecular test selection when front-line testing is uninformative. We will review the scientific basis and practical considerations of three emerging technologies that are increasingly used in genomic medicine: RNA-based next-generation sequencing (NGS), droplet digital PCR, and cell-free tumor DNA tests. Learn more.

Register for 2020 AACC

Join your community December 13-17 in Chicago for 5 days of scientific education, inspiration, and networking.