[카테고리:] 블로그 (Blog)

희귀질환 환자들이 겪고 있는 어려움을 알리고 응원하고자 지정된 2025년 희귀질환의 날이 그 막을 내렸습니다. 올 해 쓰리빌리언은 이 뜻 깊은 날을 어떻게 기념했을까요? 희귀질환이 뭔가요? ‘희귀질환’은 이름 그대로 적은 숫자의 사람들이 앓고 있는 질환을 이야기 합니다. 이 희귀 질환의 80%는 유전적인 원인으로 발생하게 되고요. 이름이 무색하게도 희귀질환으로 알려져있는 7,000여 가지가 넘는 질환은 세계 인구 중…

Inherited disorders are genetic conditions passed down from parents to their children. These conditions result from mutations in genes and can lead to serious health complications. While we cannot change our genetic makeup, advancements in genomic medicine offer ways to reduce risks through early detection, informed decision-making, and precision-based interventions. Understanding Inherited Disorders Inherited disorders…

When choosing a genetic testing service for inherited diseases, it’s crucial to consider several key factors to ensure accuracy, reliability, and meaningful results. Questions to Ask Before Choosing a Genetic Test What Conditions Does This Test Screen For? Before choosing a genetic test, determine which inherited diseases it covers. Some tests focus on a single…

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…

의료 기술의 빠른 변화 속에서 희귀질환 진단은 새로운 전환점을 맞이하고 있습니다. 희귀질환 환자들의 유전자 검사를 통한 진단을 제공하는 쓰리빌리언에서 처음 발간하는 ‘2024 희귀질환 진단 보고서’는 전세계 30개국의 의사들의 목소리로 환자와 의료진에게 중요한 통찰을 제공합니다. 2024년 진단의 최전선에서는 어떤 변화가 있었을까요? 1. 전장 엑솜 시퀀싱(WES): 유전자 분석, 이제는 첫 번째 선택 조사 결과, 70.8%의 의사가 희귀질환…

Rare diseases impact millions of lives worldwide, yet the journey to diagnosis remains a significant challenge for patients and healthcare systems alike. The 2024 Rare Disease Diagnostics Report sheds light on critical trends, barriers, and breakthroughs that are shaping the future of rare disease testing. This comprehensive report offers actionable insights for healthcare providers, researchers,…

One of the biggest challenges physicians face when diagnosing rare diseases is the time it takes to receive Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES) results. Traditionally, healthcare providers have faced TATs spanning several weeks to months, delaying essential diagnostic decisions and impacting patient care Recognizing this pain point, we at 3billion have…

In this article, we explore the key differences between Microarray and WES, highlighting their respective roles in diagnosing rare diseases and how they can complement each other for more comprehensive evaluations. Chromosomal Microarray Test Chromosomal Microarray Analysis (CMA) is a high-resolution genetic test used to detect copy number variations (CNVs), such as deletions or duplications,…

Exome sequencing (ES) has established itself as a pivotal tool in molecular diagnostics due to its cost-effectiveness and ability to identify pathogenic variants within coding exons, where approximately 80% of reported pathogenic variants reside. Despite its advantages, ES faces several limitations. Limitations of Standard Exome Sequencing For a more detailed exploration of the limitations of…

Informed consent has been officially around for over half a century with its first legal discussion beginning in 1905 and its establishment by law in 19571. Whether this sounds young or old, the advances and spread of modern medicine and research have undoubtedly made informed consent now a universal principle of medical and research ethics.…