[카테고리:] 블로그 (Blog)

GEBRA™ has continuously added new features and improved existing ones. But one important question remained: “Were users fully aware of GEBRA™’s changes?” The Problem: Updates That Slipped Through Previously, new features were either deployed without in-app notifications or announced only via email. As a result, users often missed when features were added, what changed, and…

GEBRA™는 지속적으로 새로운 기능을 추가하고 개선해왔습니다. 하지만 한 가지 중요한 질문이 남아 있었죠. “고객들에게 업데이트가 충분히 전달되고 있었을까?” 문제: 놓치기 쉬운 업데이트 기존에는 신규 기능이 배포되어도 별도의 인앱 안내 없이 바로 반영되거나, 이메일로만 공지되는 경우가 많았습니다. 그 결과 사용자는 언제 어떤 기능이 추가되었는지, 무엇이 달라졌는지, 실제 업무에 어떤 도움이 되는지 놓치곤 했습니다. 이번 포스트는 이러한…

As time goes on, scientific literature and genetic databases continue to be updated. Along the way, variants that were once classified as VUS are increasingly being reclassified as Pathogenic (P) or Likely Pathogenic (LP).For this reason, regular reanalysis is becoming an ever more important part of genomic diagnostics. Of course, for reanalysis to be truly…

시간이 흐르면서 연구 논문과 데이터베이스는 꾸준히 업데이트되고, 그 과정에서 과거의 VUS가 P/LP(병원성/잠재적 병원성)으로 재분류되는 사례도 계속 늘어나고 있습니다. 그래서 정기적인 재분석(Reanalysis)은 점점 더 중요한 과정이 되고 있습니다. 물론 재분석이 효과적이려면, 새롭게 바뀐 기준이나 지식을 기반으로 해당 변이를 다시 포착해내는 것이 무엇보다 중요합니다. 초기 자동 재분석 시스템은 주로 증상 유사도(symptom similarity) 중심으로 설계되어 있었습니다.이는 당시 임상적…

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™…