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Insights from 387 clinicians across 74 countries Key Takeaways By the end of 2025, one thing was clear: rare disease diagnosis is advancing — but not evenly. Genetic testing technologies have matured rapidly, and clinical knowledge continues to expand. Yet for many patients around the world, the path to a diagnosis remains long, uncertain, and…

From uncertainty to action — insights from real-world practice Key Takeaways Variants of Uncertain Significance (VUS) remain one of the most challenging realities in genetic diagnostics. They sit in the gray zone — clinically relevant, but not yet clinically actionable — leaving clinicians to navigate uncertainty with patients, families, and care teams. In 2025, no…

Key Takeaways • Cost and insurance coverage remain major barriers to accessing genetic testing worldwide. • Clinicians and families seek clear, realistic explanations when navigating testing decisions. • Evidence-based communication builds trust, especially around sensitive topics like autism inheritance. No.1 Most-Read Blog of 2025 : How Much Does Genetic Testing Cost Without Insurance? Cost remains…

How phenotype-led insights shaped genetic testing decisions worldwide Key Takeaways In 2025, clinicians around the world consistently turned to one type of resource when navigating complex diagnostic questions: phenotype-driven clinical intelligence. Among 3billion’s most-accessed resources this year were regional summaries highlighting the phenotypes most frequently associated with positive whole genome and whole exome sequencing diagnoses.…

From foundational principles to advanced diagnostic reasoning Key Takeaways In 2025, clinicians around the world continued to deepen their engagement with genetic testing — not through abstract theory, but through learning that supports real clinical decisions. Among 3billion’s educational offerings, Foundations of Genetic Testing emerged as the most widely chosen learning experience of the year.…

One of the most time-consuming steps in rare disease diagnostics is revisiting the same variant repeatedly.Each time a new patient arrives, or when additional family information becomes available, previously interpreted variants must be reviewed again.This repetitive work consumes valuable time—especially in situations where new evidence must be incorporated, such as: To address these challenges, GEBRA™…

희귀질환 진단에서 가장 시간이 오래 걸리는 과정 중 하나는 동일한 변이를 여러 번 해석해야 하는 상황입니다.새로운 환자가 들어올 때마다, 혹은 새로운 가족력이 확인될 때마다, 한 번 해석했던 변이를 다시 검토하는 일은 시간이 많이 들고 반복적이지요. 변이에 대한 추가적인 근거 또는 정보가 반영되어야 하는 다음과 같은 상황들이 있습니다. 이러한 문제를 해결하기 위해, GEBRA™는 수동 큐레이션(Manual Curation)을…

In the previous article, we explored how diagnostic insights can expand over time—for example, a patient initially suspected of having NF1 was later found to have a dual diagnosis (NF1 + FANCA), and another case involving a MOCS1 variant was reinterpreted thanks to updated biochemical knowledge. These examples highlight a key message: up-to-date clinical information…

지난 글에서는 NF1 사례에서 Dual Diagnosis(NF1 + FANCA) 로 진단이 확장되거나, MOCS1 변이가 생화학 정보 업데이트를 통해 재조명된 사례 등을 소개하며, 임상 정보 업데이트가 재분석의 핵심 동력이 된다는 점을 말씀드렸습니다. 하지만 동시에, 환자의 상태 변화 없이 지나치게 짧은 간격으로 재분석을 요청하는 것은 비효율적일 수 있고, 각 임상의가 빠르게 변화하는 유전학 지식을 모두 따라잡는 것 역시…

Recently, research into genomic Newborn Sequencing (gNBS) has been actively progressing worldwide. This innovative approach offers the opportunity for early diagnosis and treatment of potential genetic disorders in apparently healthy newborns. This article, based on a recent paper, delves into what gNBS is, its current global status, and the future directions it should pursue. What…