Articles Our Readers loved in 2024

I’d be lying if I said we always know what our readers want, but every long-form story on the 3billion blog is thoughtfully crafted with the goal of delivering meaningful value in the few minutes they spend with us.
These are among our most-read and most-shared stories of 2024:

How 3billion’s WES Overcomes Exome Sequencing Limitations

Exome sequencing (ES) is essential in genetic testing but faces limitations in coverage and sensitivity. 3billion’s “Exome Boosting” overcomes these with custom probe designs, improving coverage for hard-to-capture coding regions (e.g., RPGR ORF15), non-coding regions, and the mitochondrial genome. Clinical results highlight its impact, with 1.9% of diagnoses benefiting from enhanced coverage, including rare pathogenic variants. By continuously updating its panel to include newly identified genes and regions, 3billion ensures comprehensive, reliable diagnostics, making this breakthrough a reader favorite in 2024.

Have You Been Left Undiagnosed After a Genetic Test?

Reanalysis of genetic data is transforming diagnostics, doubling success rates through advancements in Next-Generation Sequencing (NGS) and AI. Discovering new genetic markers, integrating emerging symptoms, and utilizing cutting-edge technology have been game-changers. A compelling case is a 2-year-old diagnosed with Radio-Tartaglia Syndrome after continuous reanalysis by 3billion, showcasing the power of daily genetic evaluations. Unlike standard biannual reviews, 3billion’s unique approach applies the latest discoveries without added costs, bringing hope to countless families. Want to know how genetic reanalysis is reshaping rare disease diagnoses? Read more in the article!

Understanding the Diagnostic Odyssey in Rare Disease Diagnosis

The complex journey of diagnosing rare diseases, often termed a “diagnostic odyssey,” resonated deeply with readers this year. From misdiagnoses and delays to the emotional and financial toll on patients, this article shed light on the challenges families face. It highlighted solutions like early genomic testing (WES/WGS), reanalysis of genetic data, and improved interdisciplinary collaboration to expedite diagnoses and enhance patient outcomes. By addressing systemic hurdles and leveraging advanced technologies, this piece underscored the path forward in reducing the diagnostic odyssey, making it one of the most impactful reads of 2024.

Which is the Best NGS Approach for Rare Disease Diagnosis: Panels, WES, or WGS?

While NGS panels are still widely used in clinical settings, the adoption of whole exome sequencing (WES) and whole genome sequencing (WGS) is steadily increasing. However, choosing the best NGS testing method depends on the patient’s unique case.This article outlines the characteristics, limitations, and recommended uses of NGS panels, WES, and WGS, helping clinicians select the best approach.

Moving Forward in 2025

At 3billion, our mission to deliver value through impactful stories is reflected in our most-read articles of 2024. From addressing exome sequencing limitations and exploring the transformative potential of genetic data reanalysis to shedding light on the diagnostic odyssey and comparing NGS approaches, these stories resonate because they empower readers with knowledge and hope. Each piece highlights innovations that make a real difference in rare disease diagnostics, reflecting our commitment to advancing healthcare through cutting-edge science and compassionate care. Thank you for trusting us as your source for meaningful insights into the world of genetics.

Stay tuned for more in 2025!