Comprehensive genomic profiling for advanced hemoglobinopathy carrier detection and precision diagnosis

Monday, November 19 at 15:00 GMT | 16:00 CET | 10:00 EST | 07:00 PST

Hemoglobinopathies are among the most prevalent severe monogenic disorders worldwide and are recognized by the WHO as an emerging global health concern. Their genetic complexity can make accurate carrier detection and diagnosis challenging, with important implications for reproductive counseling, risk assessment, and long-term patient management.

Traditional genotyping methods may identify only a limited range of variants, making them less effective in genetically diverse populations. Advances in next-generation sequencing (NGS) now offer a more comprehensive approach, helping laboratories detect a broader spectrum of clinically relevant variants with greater precision and efficiency.

In this SelectScience® webinar, held in partnership with Devyser, Professor Jan Traeger-Synodinos will explore how current and emerging genotyping technologies are advancing hemoglobinopathy testing. You will learn how optimized NGS strategies can address the complexity of globin gene loci, support more confident carrier detection, and strengthen diagnostic workflows for genomic profiling in carriers and patients.

Join the webinar to gain practical insight into how comprehensive genomic profiling, alongside robust hematological and clinical assessment, can help improve prevention strategies, diagnostic accuracy, and patient management.

Certificate of attendance

If you attend the live webinar, you will automatically receive a certificate of attendance, including a learning outcomes summary, for continuing education purposes.

If you view the on-demand webinar, you can request a certificate of attendance by emailing editor@selectscience.net.

Webinar details

Cost: Free to attend

Location: Online

Duration: 60 minutes

Registration is required to secure your place. If you register but can’t attend live, you will receive a link to the on‑demand recording once it becomes available.

Speakers

Jan Traeger-Synodinos
Jan Traeger-Synodinos
Speaker
Emeritus Professor of Genetics, Medical School, National and Kapodistrian University of Athens, Greece
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Matilde Marques
Matilde Marques
Moderator
Assistant Editor, SelectScience
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Who should attend?

This event is perfect for individuals working in:
  • Clinical genetics and molecular diagnostics
  • Hematology and hemoglobinopathy testing
  • Genomics and next-generation sequencing
  • Carrier screening and reproductive health
  • Laboratory medicine and pathology
  • Clinical research and patient management

What will this webinar cover?

By the end of this webinar, you will be able to:

  • Explain current strategies for hemoglobinopathy prevention and carrier detection
  • Compare traditional genotyping methods with newer comprehensive genomic approaches
  • Assess how NGS can improve diagnostic precision and laboratory efficiency
  • Identify key quality considerations for laboratory and clinical practice
  • Understand how comprehensive genomic profiling can strengthen carrier screening and patient management

Join the webinar to get answers to these questions:

  • What strategies support hemoglobinopathy prevention and carrier detection?
  • How do traditional genotyping methods compare with comprehensive genomic approaches?
  • How can NGS improve diagnostic precision and laboratory efficiency?
  • What quality considerations are essential for laboratory and clinical practice?
  • How can comprehensive genomic profiling strengthen carrier screening and patient management?

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