Rare disease diagnostics & research

  1. The American College of Physicians(ACP) has issued a position paper that physicians should consider the benefits and harms of genetic testing to maximize the patient's best interests when deciding whether to proceed with a patient's genetic testing. The clinical validity of genetic testing, the applicability to patient cases, and the unintended consequences of testing should all be considered. Ultimately, it means physicians need to improve their knowledge of genetic testing and precision medicine.

    미국의사협회(ACP)에서 환자의 유전 검사 진행 여부를 결정할 때 유전 검사의 득과 실을 고려해 환자의 이익을 최대화해야 한다는 의견문을 발표했습니다. 유전 검사의 임상적 유효성, 환자 사례의 적용 타당성과 검사로 인한 의도하지 않은 결과를 모두 고려해야 한다는 내용입니다. 결국 의사들이 더 많은 지식을 익힐 필요가 있음을 의미합니다.
    Original Article: Genomeweb. Genetic Testing Should Be Guided by Patients' Best Interests, ACP Position Paper Says

  2. The Rady Children’s Institute for Genomic Medicine (RCIGM) has published a paper in Nature Communications on the performance of Genome-to-Treatment (GTRx), an automated virtual system for diagnosing genetic disorders and acute management guidance. Based on rWGS, GTRx provides diagnosis information and disease management guides for over 500 genetic disorders in 13.5 hours. The diagnostic report provides disease information and effective interventions for the disease.

    Rady Children’s Institute for Genomic Medicine(RCIGM)에서 유전 질환 진단과 관리 지도를 위한 자동화된 가상 시스템인 Genome-to-Treatment(GTRx)의 성과에 대한 논문을 Nature Communications 에 발간 했습니다. GTRx는 rWGS를 통해 13.5시간 동안 500여 개의 유전 질환 진단과 질환 관리 가이드를 제공합니다. 진단 결과지에는 질병 정보와 효과적인 질환 중재 방법이 함께 제공됩니다.
    Original Article: Nature Communications. An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

  3. Researchers at Royal Devon University have published a paper examining the effectiveness of a method for classifying variants of uncertain significance (VUS) using in silico protein structure-based approaches. Researchers focused on protein structure-based reanalysis of novel missenses and in-frame variants and classified 47 out of 64 VUS as Pathogenic and Likely pathogenic variants.

    Royal Devon University 연구진들이 in silico 단백질 구조 분석을 통한 VUS(variants of uncertain significance) 분류 방법의 효과성에 대한 논문을 발표했습니다. 연구자들은 novel missense와 in-frame variant를 단백질 구조 기반 재분석에 집중했으며, 64개 중 47개의 VUS를 Pathogenic, Likely pathogenic 변이로 분류했습니다.
    Original Article: Genome Medicine. Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

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