The European Human Genetics Conference 2024

Blueprint Genetics will be attending the European Human Genetics Conference June 1–4, 2024 in Berlin, Germany.

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. View the 2024 ESHG program HERE.

Our program:

Possibilities for individualized care through genetic testing and screening

Satellite Session: Saturday, June 1 – 12.00 – 13.30 CEST in New York 3.

Part I: Diagnostic odyssey, cases solved by whole exome sequencing and how whole genome sequencing will unravel originally negative WES cases

Whole exome sequencing (WES) is a powerful diagnostic tool and can be especially useful for patients on a diagnostic odyssey. In this presentation, Dr. Kirsty Wells will demonstrate cases solved by an optimized whole exome sequencing assay that includes mitochondrial DNA analysis, custom targeted non-coding variants, high depth and coverage, advanced CNV detection, and AI-driven variant prioritization. Dr. Wells will demonstrate that high-quality whole exome sequencing, when optimized to achieve the best possible diagnostic yield, remains relevant in a field moving towards whole genome sequencing. Whole Genome Sequencing (WGS) is a powerful tool for genetic testing, as it provides the highest diagnostic yield. Dr. Juha Koskenvuo will present Blueprint Genetics’ perspective on WGS.

Presented by: Kirsty Wells, PhD, Senior Geneticist, and Juha Koskenvuo, MD, PhD, Executive Director of Medical and Lab Director

Part II: Genetic screening informs risk for genetic conditions in asymptomatic individuals

Genetic screening testing is a rapidly evolving field that helps support medical management with early disease detection and prevention. Proactive screening may identify medically actionable results and can be especially helpful in situations such as the following: an individual’s limited personal and/or family history (as in cases of adoption) prevents diagnostic genetic testing in the public sector or an asymptomatic patient with a hereditary cancer syndrome could benefit from genetic testing that may otherwise not be indicated. Reproductive screening gives individuals and/or couples an estimate of their chances of having a child affected with an autosomal recessive or X-linked condition. With this information, individuals and couples can confer with their healthcare provider to make informed decisions about reproductive planning.

Presented by: Justyna Ulańska-Poutanen, PhD, Senior Product Manager

Part III: The importance of pediatric genetic testing; genomic studies in pediatric rare diseases

There are over 7000 clinically defined rare diseases, and around 75% of these affect children. Pediatric rare disease can sometimes be masked by common symptoms, leading to a lengthy diagnostic odyssey or a misdiagnosis. An early and accurate molecular diagnosis can improve outcomes in children with rare disease by guiding medical management and enabling targeted treatment.

Presented by: Feliciano Ramos, Professor of Paediatrics, University of Zaragoza Medical School, Zaragoza, Spain

Poster Presentations 

  • Genetic findings for cardiomyopathy and arrhythmia: a retrospective analysis of over 1,800 patients (Control #3119)
    Presented by: Kirsi Alakurtti, PhD, CLG, Senior Geneticist on June 03, from 13:00 – 14:00 CEST, Presentation #P07.027.C
  • Genetic findings from multi-gene panel for inherited myopathies (Control #2698)
    Presented by: Mònica Segura Castell, PhD, Geneticist on June 03, from 15:45 – 16:45 CEST in the Poster Hall,
    Presentation #P12.021.D
  • Assessing the clinical utility of a breakpoint analysis method in identification of structural variants in targeted sequencing genetic tests (Control #686)
    Presented by: Antti Väisänen, MSc, Clinical Bioinformatics Specialist on June 02, from 15:45 – 16:45 CEST,
    Presentation #P15.097.B

Interested to learn more?

Our team is looking forward to meeting you!

Come and join us to find out what’s shaping the future of genetics and genomics! We will be available to discuss Blueprint Genetics’ latest updates at this event – be sure to stop by our booth #548  during the conference!

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