Industry Symposia

The following educational symposia hosted by ISPD Corporate Council members will take place at the Edinburgh International Conference Center. Symposia proposals were reviewed and approved by the ISPD Board of Directors.

This conference is COMPLIANT with Ethical MedTech standards (event EMT32171).

Monday, 19 June 2023


1:00-2:00 pm | Sidlaw Auditorium
Industry Symposium hosted by Roche
Advances in diagnosis and treatment of Spinal muscular atrophy

Speakers: Professor Laurent Servais, additional speaker TBA

Symposium description: SMA is a progressive neuromuscular condition that affects the nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling and walking (1, 2). It affects approximately one in 6,000 babies born, and about one in 40 people are genetic carriers (1).

SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of the survival motor neuron (SMN) protein. This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function correctly, leading to muscle weakness over time. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat or breathe can be significantly diminished or lost (2).

Before the advent of specific disease altering treatments, SMA was the second most common fatal autosomal recessive disorder after cystic fibrosis and the most common genetic cause of infant mortality. Until recently, SMA treatment was solely supportive. The therapeutic landscape has changed dramatically over the last few years and newer disease-modifying and gene replacement therapies offer promise. 


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 Description:
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.




5:30-6:30 pm | Sidlaw Auditorium 
Industry Symposium hosted by Revvity
Angiogenic biomarkers: a revolution in pre-eclampsia management

Speaker: Prof. Andrew Shennan, King’s College, London

Symposium Description: This talk will discuss the evidence around using angiogenic markers in women presenting with suspected pre-eclampsia in different settings. A number of clinical trials have now confirmed the ability of these markers to accurately stratify risk. The discussion will cover how best to use them to improve management and outcomes, and how to increase access to more women globally.


Wednesday, 21 June 2023


8:00-9:00 am | Lomond Suite
Industry Breakfast Symposium hosted by BillionToOne
Fetal antigen status determination by cfDNA analysis in alloimmunized and Rh– pregnancies

Symposium Description: TBA


12:45-1:45 pm | Sidlaw Auditorium
Industry Symposium hosted by BioRad
Application of Targeted Methods in Reproductive Health

Scott Hauenstein, PhD – Associate Director of Scientific Affairs at Bio-Rad Laboratories
Olga Mikhalichenko, PhD – Senior Scientist at Bio-Rad Laboratories
Vaidehi Jobanputra, PhD – Chief Diagnostics Officer at New York Genome Center

Symposium Description: Digital PCR (dPCR) has led to many important breakthroughs in molecular testing in areas such as oncology, infectious disease, and genetic diseases. Further, dPCR has been utilized in reproductive health including clinical applications like the detection of single gene disorders (sickle cell disease, cystic fibrosis, RhD) and non-invasive prenatal testing. Similar to how next generation sequencing (NGS) is useful for biomarker discovery, dPCR may offer routine screening of known biomarkers in a more rapid, sensitive, and cost-effective approach. This presentation will provide an overview of digital PCR, its current clinical applications used for prenatal testing and evaluate how it may fulfill future clinical needs in areas affecting a pregnancy’s outcome, such as pre-eclampsia and endometriosis.