In today’s multiethnic society, genetic disorders previously confined to specific ethnic groups now occur at increasing frequency in broader populations. Based on assumptions about prevalence, traditional carrier screening only targets single gene disorders, according to ancestry or family history. It may not accurately reflect these changing frequencies. Expanded carrier screening by next-generation sequencing (NGS) enables rapid carrier screening research and genetic analysis across a broader range of disorders, crossing ancestries and geographic regions, with a highly accurate and scalable, cost-effective solution.

Hear what your peers are saying about NGS and expanded carrier screening research:

Genetic Carrier Screening Before Pregnancy: State of the Art

Reproductive carrier screening is becoming more popular and less expensive. Massively parallel sequencing technologies have made it possible to test a wider range of genes than previously feasible. Because there are so many commercially available tests, it may be difficult for the physician or patient to choose a test. This talk will include a discussion on current best practices for carrier screening, the range of conditions that are typically tested, the advantages of screening, suggested testing strategies, and common mistakes to avoid when performing carrier screening in patients.

Dr. Eric Lee, FRCPA (Genetics)
Laboratory Director
Virtus Diagnostics, Australia

The Role of Pan-Ethnic Expanded Carrier Screening for Inheritable Conditions

Enable educated family planning

Follow the evolution of genetic screening technology, with focus on the advantages of NGS for screening a broad range of inheritable genetic disorders. Review cases that highlight the benefits of expanded carrier screening, identify risks for heritable conditions, and empower real patients with knowledge to make informed decisions.

Dr. Haywood Brown
Professor of Obstetrics-Gynecology and Associate Dean, Diversity Morsani College of Medicine, University of South Florida
Executive Medical Director, Access to Expanded Carrier Screening Coalition


Preconception Screening: Residual Risk and Reproductive Risk

Review the basics of inheritance probability for autosomal recessive and X-linked disorders; and see how preconception carrier screening reduces residual risk and reproductive risk. While the broad, pan-ethnic gene panels for expanded carrier screening improve outcomes over traditional screening, risk still exists. Learn how risk calculations are determined and view a demonstration of a software package that simplifies carrier screening analysis for clinicians and patients.

Doron M Behar, MD, PhD
Genomics expert