Tuesday, 20 June 2023
12:30-1:30 pm | Sidlaw Auditorium
Industry Symposium hosted by Illumina
Prenatal Diagnosis in the Genome Era: A continuum
Speakers: Erik Iwarsson, MD, PhD, Associate Professor, Senior Consultant, Dept of Clinical Genetics, Karolinska University Hospital
Jessica Giordano, MS, CGC, Assistant Professor of Genetic Counseling (in OB/GYN), Columbia University
Moderator: Prof Mark Kilby, MB BS DSc MD FRCOG FRCPI
Symposium will cover the following topics:
- Learnings from prenatal sequencing and how that informs the future of this application
- Challenges around patient counseling and describe informed consent best practices.
- Management of reporting variants of unknown significance, secondary and incidental findings
- What matters most to patients
Sequencing is increasingly used in clinical practice, from carrier screening preconception to sequencing of healthy individuals. It has impacted many clinical areas, including prenatal diagnosis.
Fetal exome (ES) and genome sequencing (GS) are increasingly used in diagnosis of fetal structural anomalies. The main technical advantage of GS over ES, is the ability to broadly capture many different types of genetic variants, the most important being CNVs, SVs and STRs. GS also provides better coverage for exonic regions than ES, and better resolution for SV detection if compared to chromosomal microarray analysis (CMA).
Many efforts and clinical studies are under way to understand the diagnostic yield, clinical utility, and implementation challenges of sequencing in prenatal space. In addition, GS helps in our understanding of the underlying causation and disease mechanism in cases of late pregnancy loss and stillbirth. With the advent of new therapies for treatment of these genetic disorders, it is increasingly important to make an earlier diagnosis.
In this session we will discuss successes and challenges of implementing fetal genome sequencing. We will review the important aspects of consents, issues around reporting of secondary and incidental findings, and discuss global perspectives.