신규 오믹스 어세이의 부상과 함께 또는 이에 앞서 분석 전/탐지 전처리의 최적화를 상세히 검증할 필요가 있습니다. 혁신적 시료 조제와 표적 농축 기술은 이종 시료 또는 저농도 검체를 포함한 시료에 대해 시행하는 검사의 감수성과 특이성을 크게 향상시키는 능력을 가지고 있습니다. 적절하고 새로운 시료 조제는 반복성과 견고성을 보증하는 어세이 개발과 밸리데이션의 매우 중요한 부분입니다. 본 컨퍼런스는 임상, 바이오탐색 및 생물감시(biosurveillance) 분야의 최신 오믹스 어세이를 위한 시료 조제 관련 주요 문제와 최신 동향에 대해 논의하는 이벤트입니다.
첫째날 | 둘째날
7:15 등록 및 모닝커피
게놈 검사 및 병원체 검출 분석 전처리의 베스트 프랙티스
8:10 의장 개회사
8:15 생물 검체의 생물학적 품질 평가
Scott D. Jewell, Ph.D., Professor and Director, Program for Technologies and Cores Van Andel Research Institute
Biospecimen quality is affected by preanalytical variable and the analytes from the biospecimen are the targets of that quality assessment. Purity, size, integrity and a functional assessment of nucleic acids are used to measure genomic biospecimen quality. However, a more complex measurement of quality is the assessment of the biology of the biospecimen. We investigate these questions using animal models to provide further improvements in best practices.
8:45 조인트 프레젠테이션：혁신적이며 매우 통합된 분자 시스템의 핵심 특징으로서의 시료 조제
Randy Rasmussen, Ph.D., President and COO, BioFire Diagnostics
Stephanie Thatcher, Ph.D., Director, Systems Integration, BioFire Diagnostics
Development of molecular detection systems focuses on nucleic acid amplification and detection. This half of the problem gets the grants, the patents and the research time. Unfortunately these systems are often brought to their knees by snot, blood, poop and sputum. The hardest part of highly integrated systems is the sample prep and yet it is the part that is hardest to get people to work on. We will describe the process of learning this lesson with the FilmArray system, how we approach sample prep, and what important factors you should consider during development.
9:30 직접 전혈 검체의 세균 감염 및 칸디다성 감염의 고감도 분자 탐지
Lawrence B. Blyn, Ph.D., Director, Science and Technology, Ibis Biosciences, Abbott
We describe a sample preparation and detection system that provides for the rapid detection and identification of bacterial and Candidal nucleic acid directly in whole blood specimens from patients with suspected bloodstream infections. A lysis method and DNA purification system were designed for processing 5 ml of whole blood. PCR amplification formulations were optimized for high levels of human DNA. The system provides for rapid and sensitive molecular detection of diverse agents of these clinically important infections in approximately 6h.
10:00 전시회장 휴식시간 & 포스터 관람
10:45 적합 포르말린 고정 조직 및 동결 조직 검체로부터 얻은 결과를 비교하기 위한 차세대 시퀀싱 어세이의 사용
Patrick Hurban, Ph.D., Vice President, Research and Development, Expression Analysis, The Quintiles Company
Formalin-fixed tissues present many sample preparation, extraction and method development challenges. It can also be challenging to understand whether certain findings stem from intrinsic genetic properties of the sample, or alternatively, are a product of how the sample was handled. Despite advancements in preservation methods, vast collections of FFPE material await analysis. Results will be presented comparing matched formalin-fixed and frozen tumor samples analyzed using a sensitive next-generation sequencing assay.
11:15 표적 RNA 시퀀싱에 의한 융합 검출을 위한 베스트 프랙티스：분석전 검토사항, 어세이 밸리데이션 등
Robert D. Daber, Ph.D., Director, Research and Development and Sequencing Operations, Bio-Reference Laboratories
This presentation will discuss challenges and benefits of NGS based targeted RNA sequencing in the detection of gene fusion events, including, nucleic acid isolation, sample preparation and downstream data processing. There are a number of specific challenges related to RNA sequencing, standardized quality control metrics both before and after library prep are clearly needed.
11:45 스폰서 제공 프레젠테이션
12:15 런치 프레젠테이션 또는 개별 점심식사
1:00 전시회장 휴식시간 & 포스터 관람
1:40 의장 인사
1:45 암에 관한 임상 연구에 사용하기 위한 다중 검체 NGS 어세이의 준비
P. Mickey Williams, Ph.D., Director, Molecular Characterization & Clinical Assay Development Laboratory (MoCha), Frederick National Laboratory for Cancer Research
NGS offers a powerful tool for assessment of molecular defects found in cancer. The utilization of NGS is becoming common practice in clinical laboratories. This complex technology requires a new level of analytical performance testing and validation. This discussion will focus on approaches used for analytical validation of the NGS clinical assay used for treatment selection in the NCI-MPACT Study.
2:15 소수 임상 시료의 다중 표적 시퀀싱
Curt Scharfe, M.D., Ph.D., Senior Scientist, Stanford Genome Technology Center, Stanford University
Clinical molecular testing increasingly depends on the development and deployment of novel sample preparation technologies. In collaboration with physicians and clinical laboratories we are developing genomic and sequencing assays for the screening and diagnosis of cystic fibrosis, clinical viral infections, newborn and neurodevelopmental conditions and inherited cardiomyopathies. These projects have involved invention of a novel multiplex capture technology, and several innovative improvements in DNA sample preparation. Both approaches have increased speed and accuracy, while lowering costs.
2:45 전시회장 휴식시간 & 포스터 관람
3:15 DeepChek, OncoChek 플랫폼을 통한 바이러스학 및 종양학의 시료 조제와 어세이 밸리데이션의 최적화
Chalom Sayada, M.D., Ph.D., Co-founder & CEO, Advanced Biological Laboratories SA
Clinical environments wishing to provide genotyping services in the field of Virology or Human Genetics using Next Generation Sequencing (NGS) need robust, standardized, registered and well-validated software systems. These should be tailored to the optimized management of genomic data resulting in personalized healthcare. Dedicated downstream analysis systems help to perform an accurate, quick and simple analysis of NGS data. This begins with sample preparation and the generation of reads by any type of sequencing platform and ends with simple and easily-understandable reporting ideally suited to clinical interpretation and the connection to the local LIMS. Coupling advanced IT solutions to a well-established sequencing workflow usually helps labs with the validation of new sample prep and innovative assays, enhancing patient management.
3:45 스폰서 제공 프레젠테이션
4:45 워크샵 등록
5:30-8:30 디너 워크샵(별도 등록 필요)
첫째날 | 둘째날
8:00 모닝 커피
다중 어세이：시료 조제와 밸리데이션
8:25 의장 인사
8:30 목적에 적합한 생물검체의 채취와 사용을 안내하는 National Cancer Institute의 리소스
Helen Moore, Ph.D., Branch Chief, Biorepositories & Biospecimen Research Branch, Cancer Diagnosis Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute
The National Cancer Institute has led the way in developing Best Practices for Biospecimen Resources, sponsoring new research in Biospecimen Science, and building groundbreaking research biospecimen collections including postmortem biospecimens for the NIH GTEx program. New projects to build evidence-based best practices for frozen and FFPE tissues will be described.
9:00 NGS의 성공을 위한 FFPE 시료의 평가
Helen Fernandes, Ph.D., Associate Professor, Pathology and Laboratory Medicine, Weill Cornell Medical College
This presentation will discuss several important issues, such as: RNA detection in cancer tissues stored in FFPE samples, profiling microRNA expression, FFPE DNA quality control and its correlation with NGS data, and understanding pre-analytic effects on RNA gene expression.
9:30 스폰서 제공 프레젠테이션
다양한 적응을 위한 분석전 검토사항
10:15 혈액 검체로부터 직접 채취한 생균의 즉시 시료 조제
Alexis Sauer-Budge, Ph.D., Senior Research Scientist, Fraunhofer Center for Manufacturing Innovation; Adjunct Research Assistant Professor, Biomedical Engineering, Boston University
Traditionally, bacterial pathogens in the blodd have been identified using culture-based methods that can take several days to obtain results. This can lead to physicians making treatment decisions based on an incomplete diagnosis contributing to patient morbidity. To decrease diagnosis time, we are developing a novel sample preparation device for isolating and concentrating dilute bacteria from blood. This presentation will describe the sample preparation device for methodology to isolate viable bacteria from blood which is clean enough for direct PCR or other downstream detection technologies.
10:45 세균 격리와 이동형 검출：분석전 검토사항과 기술
Sam R. Nugen, Ph.D., Assistant Professor, Department of Food Science, University of Massachusetts, Amherst
The lack of a practical method for bacterial separation remains a hindrance for the low-cost and successful development of rapid detection methods from complex samples. We have developed T7 bacteriophage magnetic probes, where T7 bacteriophage is bound to magnetic particles. The capture efficiencies of bacteriophages on microbeads and nanoparticles for the separation of E. coli K12 were determined. The results indicated that bacteriophage magnetic particles achieved a capture efficiency of 93.7 ± 1.1% in 15 minutes.
11:15 폼페병의 원인이 되는 변이를 탐지하기 위한 GAA의 차세대 시퀀싱을 위한 마이크로플루이딕 PCR 증폭
Patricia Mueller, Ph.D., Chief, Molecular Risk Assessment Laboratory, Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, Centers for Disease Control and Prevention (CDC)
We designed a next-generation sequencing assay using primer pairs for PCR amplification and library preparation of up to 48 samples in one Fluidigm Access Array for next-generation sequencing using the MiSeq. This assay can be scaled up using additional Access Arrays in one MiSeq run. The PCR amplification of GAA is challenging due to difficult regions in the gene. All transcribed exon sequences as well as exon/intron borders including those intron sequences containing mutations as identified in the Human Genome Mutation Database (HGMD) were targeted for amplification. Primers were designed not to overlap known HGMD mutations, and variants found in dbSNP were avoided when possible. The data was filtered at a quality score of ≥ 30 and trimmed. We characterized reference materials including those with missense, nonsense, and splicing mutations; and small insertions and deletions. Large deletions that included exon 18 were independently characterized.
11:45 분석전 변수 - 바이오마커 밸리데이션에서 가장 취약하며 과소평가되고 있는 단계
Apurva K. Srivastava, Ph.D., Principal Scientist, Frederick National Laboratory for Cancer Research Leidos Biomedical Research, Inc.
Contrary to prevalent belief, pre-analytic factors contribute to the most errors documented in clinical laboratories as compared to analytical factors where most efforts are devoted during assay validation. Dr. Srivastava will discuss the general pre-analytical variables for protein assays and how they affect accuracy in clinical laboratory tests. The focus of his presentation will be on identifying the phases of pre-analytical factors with reference to pharmacodynamic/proof-of-mechanism (POM) phospho-protein biomarkers in clinical trials. As a take home message, participants will learn that pre-analytic variables are an underappreciated area in biomarker validation process and improvements in this process will significantly impact accuracy of test results and enable laboratories to focus their quality assurance efforts.
12:15 컨퍼런스 종료
* 주최측 사정에 따라 사전 예고없이 프로그램이 변경될 수 있습니다.