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Democratising Genomic Diagnostics: A New Model for Global Childhood Cancer Care

4.2

Accredited (Credits: 0.5)
Free
37min
Audio: English

Synopsis

Childhood cancers, effectively fatal 60 years ago, are now curable for up to 85% of children with access to contemporary treatments and care. However, for the majority of children in resource-limited settings, outcomes remain poor, with global survival rates closer to 20%—representing one of the largest disparities in global health. Despite substantial investments to expand access to medicines and care, diagnostic challenges remain a critical barrier. Analyses suggest that a significant proportion of healthcare resources are wasted due to inaccurate or incomplete diagnosis, while efforts to scale conventional diagnostic approaches have faced implementation challenges in low-resource settings. This course highlights the work of the St. Jude Global-led DARGAN study, which is developing and evaluating approaches to expand access to high-quality diagnostic testing through a global network. This includes the exploration of nanopore-based sequencing technologies, such as adaptive sampling.

This activity is supported by an independent support grant from Oxford Nanopore Technologies

Objectives

After completing this activity, participants should be better prepared to:

  • Understand the potential of whole-genome sequencing with targeted enrichment to consolidate multiple data types—such as structural variation, copy number changes, and methylation signals—within a single workflow
  • Analyse the feasibility, workflow performance, and concordance with existing diagnostic methods for this approach, based on multi-site evaluation studies across the St. Jude Global network
  • Consider implications for cost, infrastructure, and implementation when evaluating genomic technologies in low- and middle-income countries

Accreditation

This course is accredited with 0.5 ECMEC credits valid in 26 countries. To claim your credits take the evaluation (satisfaction survey and evaluation questionnaire). You have 3 attempts for the evaluation. You need to pass the evaluation with a sufficient score to validate the course. Your diploma is issued instantaneously and sent to your email.

See more information on the accreditation at: Accreditation

Duration

37min

Target audience

Medical oncology, Pathology, Medical genetics

Authors

Dr. Nickhill Bhakta

Dr. Nickhill Bhakta is an associate member in the Department of Global Paediatric Medicine with a secondary appointment in the Department of Epidemiology and Cancer Control and the Department of Oncology in the Division of Leukaemia/Lymphoma. Dr. Bhakta is also the Director of the Sub-Saharan Africa Region for St. Jude Global where he oversees regional activities across eight countries. He lectures in the St. Jude Graduate School of Biomedical Sciences.

Conflicts of interests statement:

The author has no potential conflict of interest to report.

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FAQs

What you will learn

Before you begin

  • Pre-course assessment: please complete to help us personalize your learning experience

Trailer

  • Trailer

Global Access to Child Cancer Diagnosis

  • Childhood Cancers: Advances and Challenges
  • The Gap in Diagnostics

Adaptive Sampling Whole-Genome Sequencing

  • Technique Overview
  • Real World Implications
  • From Theory to Action
  • Preliminary Results: Advantages and Opportunities

Implementation Outcomes

  • Impact, Costs and Limitations
  • Take-Home Messages and Future Directions

Accreditation - Evaluation

  • Satisfaction survey
  • Multiple-choice test

Register now for free!

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