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Reflecting on 2024’s Pivotal Genomic Medicine Advances

Dec 17, 2024

In DNA Today’s wrap-up episode for 2024, host Kira Dineen engaged with Dr. Bruce Gelb and Dr. Eric Green to reflect on the most significant developments in genetics and genomics over the year. Informed by the American Journal of Human Genetics’ publication, Genomic Medicine Year in Review: 2024, the discussion explored key themes such as variable expressivity, the integration of genomics into human genetics, and the vital role of diversity in genomic research.

Among the notable advancements:

  • Hemochromatosis Management: Improved genetic screening strategies to detect and manage iron overload.
  • Genotype-Lifespan Correlations: Studies linking actionable genotypes to lifespan, particularly from groundbreaking Icelandic research.
  • Digital Disclosure Impact: The role of enhanced digital tools in effectively communicating genetic results to diverse families.
  • Polygenic Risk Scores: The growing application of polygenic risk scores for chronic disease prediction in diverse populations.
  • CRISPR Technology: Advances in gene-editing techniques, enabling innovative treatments for inherited conditions.
  • Newborn Sequencing: Transformative progress in genomic sequencing for newborns, particularly in neonatal intensive care units, improving outcomes during critical early life stages.

At InGeNA, we are excited by the rapid pace of genomics and the new era of opportunities it presents for health and well-being. The developments highlighted here underscore how genomic medicine is evolving, offering incredible health opportunities in the coming years. From advanced newborn sequencing to improved disease management strategies and innovative gene-editing technologies, genomics is reshaping healthcare with precision and promise. Earlier this year we were delighted to meet with Dr Eric Green visiting from the NIH and discussing the opportunities and approaches to accelerating genomics adoption in the United States and what we could learn from this in Australia. 

The focus on diverse populations and scalable genetic counseling solutions is especially critical as we work to ensure these advancements are accessible to all Australians. InGeNA is committed to accelerating the adoption of genomics, recognizing its immense potential to improve health outcomes, reduce risks, and deliver more personalised, effective care.

We look forward to supporting the implementation of these technologies for the benefit of Australians’ health and well-being.

For a comprehensive understanding of these developments, listen to the full episode on DNA Today’s website.

Stay informed about the latest in genomics by following InGeNA for updates on the global genomics industry.