ESHG: Satellite Session
May 05, 2022

Ending the diagnostic odyssey for your patient: The need for precise testing and accurate analysis

Satellite Session: Saturday, June 12 – 12:15-13:00 CEST

Part I: Choosing the right genetic testing strategy, can one size fit all? 

With the rapid advance of new genetic analysis technology and increased choice of available genetic tests, choosing the appropriate test for your patient can seem like a daunting task. When should healthcare providers opt for a more targeted approach or is “bigger always better”? In this educational presentation, Christèle du Souich, MSc, CGC, CCGC, provides insight on the different types of testing platforms available and what to consider when choosing a genetic test for your patient. Through case examples, the step-by-step process and the related key challenges and potential solutions will be presented.

Presented by: Christèle du SouichMSc, CGC, CCGC, Senior Manager Clinical Branding

Satellite Session: Saturday, June 12 – 13:00-13:45 CEST

Part II: How augmented intelligence can help solve variant interpretation in clinical genetic testing

Modern clinical genetic tests utilize next-generation sequencing approaches to comprehensively analyze patients’ genetic variants. Out of these millions of variants, clinically relevant variants that match the patient’s phenotype need to be identified accurately within a rapid timeframe that facilitates clinical action. As manual evaluation is not a feasible option for meeting the speed and volume requirements of clinical genetic testing, more automated solutions are needed. In this session, Jussi Paananen, PhD, will discuss how machine learning (ML) and augmented intelligence (AI) can help geneticists meet these requirements. Both opportunities and limitations are discussed, as well as how a geneticist can interpret and trust results from AI/ML predictors, based on experiences from a high-volume rare disease genetic diagnostics laboratory.

Presented by: Jussi Paananen, PhD, Executive Director of Advanced Diagnostics Technology


Christèle Du Souich

Christèle Du Souich, MSc, CCGC, CGC, is a Canadian and American Board certified genetic counselor with over 23 years experience in the clinical, pediatric, and prenatal settings. Throughout her career, Christèle has been very active in rare disease research, publishing numerous original research papers and presenting her work at many national and international conferences. She is an active member of the Scientific Program Committee of the Canadian Association of Genetic Counsellors, and teaches and supervises Genetic Counseling students at the University of British Columbia. In January 2022, Christele joined the Blueprint Genetics Team as the Senior Manager for Clinical Branding.

Jussi Paananen

Jussi is the Executive Director of ADx Technology at Blueprint Genetics. He is in charge of directing and developing the company's data science, artificial intelligence, and software technology efforts. He has a Master’s Degree in computer science and a PhD in molecular medicine. He has worked as a visiting scholar and research affiliate at the Broad Institute of MIT and Harvard, and as an Assistant Professor and manager of the Bioinformatics Center at the University of Eastern Finland. Jussi has an extensive track record of publishing scientific publications, software, and databases in the fields of genetics, bioinformatics, and data science, as well as experience from co-founding two life-science start-ups.

Last modified: May 11, 2022