The European Human Genetics Conference

Blueprint Genetics will be attending the European Human Genetics Conference

This meeting takes place on June 11-14, 2022 in Vienna, Austria. The ESHG offers an opportunity for the medical genetics community to come together and learn about both research and clinical updates that inform their daily practice. Come and join us to find out what’s shaping the future of genetics and genomics! Visit our team at booth #X5-246 to hear about the latest developments at Blueprint Genetics

Our program:

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


Poster Presentations 

  • Diagnostic utility of NGS panel testing including non-coding and mitochondrial DNA variants in patients with monogenic diabetes. Presented by: Johanna Känsäkoski, PhD
  • Characterization of molecular diagnostic findings in an unselected cohort with suspected congenital hypothyroidism or resistance to thyroid hormone. Presented by: Christèle du Souich,MSc, CGC, CCGC 
  • Pulmonary arterial hypertension: molecular findings in a group of patients referred for NGS panel testing. Presented by: Christèle du Souich,MSc, CGC, CCGC
  • Molecular diagnosis of cystic kidney disease with NGS panels covering difficult-to-sequence regions.Presented by: Manuel Bernal, PhD
  • Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease. Presented by: Saija Ahonen, PhD

Interested to learn more?

Our team is looking forward to meeting you!

We will be available to discuss Blueprint Genetics’ latest updates at this event – be sure to stop by our booth: X5- 269  during the conference!


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Last modified: May 05, 2022