Rare disease diagnostics & research

  1. At the National Society of Genetic Counselors(NSGC) annual meeting, Fulgent Genetics' Han Chao presented the benefits of parent-initiated newborn screening genetic testing. Parent-initiated newborn genetic testing refers to neonatal testing that is first requested by a patient's parents and approved by a physician, rather than conventional screening tests mandated by state health systems. According to an analysis of Fulgent's newborn screening service cases, 70% of patients were diagnosed with conditions that could not be diagnosed using state-mandated screening.

    National Society of Genetic counselors(NSGC) 연례 회의에서, Fulgent Genetics의 Han Chao가 환자자 주도 신생아 선별 유전자 검사의 효과를 발표했습니다. 환자 부모 주도 신생아 선별 검사(Parent-initiated newborn genetic testing)란, 주별 의료 시스템이 정한 기존 의무 선별 검사가 아니라, 환자의 부모가 먼저 요청하고 의사가 승인해 진행되는 신생아 검사를 말합니다. Fulgent의 신생아 검사 서비스 사례를 분석 결과, 70%의 진단 환자들은 기존 의무 검사(state-mandated screening)로는 진단할 수 없었던 질환들이었다고 말했습니다.
    Original Article: GenomeWeb. Parent-Initiated Genetic Testing of Newborns Yields Clinical Diagnoses, Fulgent Team Finds

  2. Al Jalila Children’s Specialty Hospital of the United Arab Emirates(UAE) has announced a collaboration with Illumina for rapid whole-genome sequencing for neonatal and pediatric testing. Illumina will provide Al Jailia Children’s Specialty Hospital with the reagents and analytical tools needed to test 200 rWGS over a two-year period.

    United Arab Emirates(UAE)의 Al Jalila Children’s Specialty Hospital이 일루미나와 신생아 및 소아 검사를 위한 rapid whole-genome sequencing 협력을 하기로 했다고 발표했습니다. 일루미나는 2년 동안 200명 rWGS 검사에 필요한 시약과 분석 도구를 Al Jailia Children’s Specialty Hospital에 제공할 예정입니다.
    Original Article: GenomeWeb. Illumina, Al Jalila Children's Specialty Hospital Ink Rapid Whole-Genome Sequencing Deal

  3. At the NSGC Annual Meeting, Kirsten Blanco, a genetic counselor at Children's Hospital Los Angeles, presented an analysis showing that the WGS rare disease test has high diagnostic utility in adults as well as pediatric patients with rare diseases. Blanco said WGS screening guidelines for adult patients are also needed and should be expanded.

    NSGC 연례회의에서, Children's Hospital Los Angeles의 유전상담사인 Kirsten Blanco가 WGS 희소 질환 검사가 소아 희소 질환 환자뿐 아니라 성인 환자들도 진단 효용이 높았다는 분석 결과를 발표했습니다. Blanco는 성인 환자들을 위한 WGS 검사 가이드라인도 필요하고 또 확대되어야 한다고 말했습니다.
    Original Article: GenomeWeb. Whole-Genome Sequencing Can Help Diagnose Adults With Rare Disease, Study Presented at NSGC Finds

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