Fourth Annual Advances in Prenatal Molecular Diagnostics
- 제4회 출생전 분자진단의 최신 동향 컨퍼런스 -
개최: 미국, 케임브리지
일정 : 2016년 11월 29일-12월 1일

아젠다 최종판 완성!

모체혈로부터의 무세포 DNA 기반 스크리닝의 인지도 및 이용 가능성이 증가함에 따라 출생전 검사에 큰 영향을 미치고 있습니다. 그 결과중 하나로 침습성 검사를 선택하는 여성의 수가 꾸준히 감소하고 있습니다. 시료의 분석을 위해 핵형 분석으로부터 전환하여 배열, 또는 경우에 따라 시퀀싱이 선호되고 있습니다.

무세포 DNA 검사에 이용되는 방법이 계속 확대되고 있으며, 사내 분석을 위한 키트가 출시되거나 서브 염색체 이상의 탐지를 대폭 개량한 이른바 제2세대 어세이가 이용되고 있습니다. 고위험임신 이외에도 NIPT의 사용을 확대하는 동향이 확인되고 검사에 의해 보고되는 유전자 조건의 범위가 넓어지고 있으나, 이와 같은 변화에는 희생이 따릅니다.

모체혈로부터 태아 세포를 격리하여 검사하는 방법에 대한 연구는 수십년간 진행되어 왔습니다. "이 방법을 상품화할 수 있을까"라는 점에 대해 지금까지 논의가 계속되어 왔으며, 작년 컨퍼런스에서 처음으로 "이 방법을 언제 상품화할까"라는 논의로 이동했습니다. 많은 단체가 이를 가능하게 하는 신뢰성 있는 격리를 시행하기 위한 실질적인 진보를 보고했기 때문입니다. 올해 컨퍼런스에서는 이 테마의 최신 동향과 검증 내용, 다양한 어프로치의 도입, 이 분야의 진행 방향성이 논의되며, 연구자, 시험 프로바이더, 임상의, 진료소 등이 이와 같은 동향에 대해 고려하고 향후 전망을 소개할 예정입니다.

Dennis Lo기조 강연
비침습성 출생전 검사의 한계에 대한 도전

Y.M. Dennis Lo, Ph.D., Chairman, Chemical Pathology and Director, Li Shing Institute of Health Science, The Chinese University of Hong Kong


아젠다

첫째날 | 둘째날 | 셋째날

11월 29일(화)

7:30 am 등록 및 모닝커피


Overview

8:30 의장 인사

Ronald Wapner, M.D., Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center

8:40 태아 이상의 동향과 영향:핵형 분석을 초월

Ronald Wapner, M.D., Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center

Noninvasive prenatal testing is constantly evolving. The use and application of currently available technology will be explained and compared with what is on the horizon. Next-generation sequencing and new technologies along with their indications will be explored.

9:10 출생전진단 방법에 대한 각각의 진단 가치와 각각의 리스크 비교

Joe Leigh Simpson, M.D., Senior Vice President, Research & Global Programs, March of Dimes Foundation

Each of the three current options (universal invasive procedure, serum analyte/NT screening, cell-free DNA screening) should be offered in the context of differing patient desires for learning the presence of either just traditional autosomal trisomy or additional karyotypic abnormalities or copy number variants.

9:40 의료 경제의 증거가 새로운 출생전진단의 보상과 상환에 미치는 영향

Mark Girardi, Vice President, Market Access, GfK Health

In order to maximize coverage and adoption for new diagnostic technologies in prenatal testing, payers are requiring companies to demonstrate the potential economic as well as clinical benefits of using the new technology. Budget impact and clinical effectiveness models, which are an effective way to capture and articulate the potential value of a new technology, will be discussed.

10:10 휴식시간

10:30 출생전 시설의 유전자 카운셀링 전망과 문제

Speaker to be Announced

11:00 NIPT와 PGSS에 응용하기 위한 환자 유사 Seraseq™ 이수성 참조 재료의 도입

Russell Garlick, CSO, SeraCare Life Sciences

As regulatory oversight increases, there is great demand for robust, patient-like reference materials that can be used to expedite development, perform analytical validation, and monitor daily run performance across the entire workflow. In this presentation, we describe our aneuploidy reference material technology, as well as summarize field performance for both NIPT and PGS applications.

11:30 임신중 지카 바이러스 감염에 관한 Q&A

Suresh Boppana, Ph.D., University of Alabama, Birmingham

A large number of babies with microcephaly and other birth defects are born to women with Zika virus infection (ZIKV) during pregnancy during the ongoing epidemic of ZKV in Brazil and other Latin American countries. Both the WHO and CDC have concluded that there is a causal link between ZIKV during pregnancy and microcephaly. However, significant gaps including the lack of reliable, rapid and simple diagnostic methods remain in our understanding of the natural history and pathogenesis of ZIKV in pregnant women and its impact on the developing fetus. The state-of-the art knowledge on the diagnosis and monitoring of ZIKV during pregnancy and the similarities and differences with other congenital infections will be discussed.

12:00 런치 프레젠테이션 또는 개별 점심식사


모체혈로부터의 태아 세포 격리 및 분석

1:30 의장 인사

Art Beaudet, M.D., Department of Molecular & Human Genetics, Baylor College of Medicine

1:35 PGD/PGS 및 NIPT를 위한 고정밀 단세포 게노믹스

Xiaoliang "Sunney" Xie, Ph.D., Department of Chemistry and Chemical Biology, Harvard University

Single-cell whole genome sequencing is becoming increasingly important for PGD/PGS and NIPT. A pre-requisite for sequencing is single-cell whole genome amplification (WGA), which currently lacks amplification uniformity, hence exhibiting low genome coverage and sequence-dependent bias. We have developed a new method for single-cell WGA which offers, to the best of our knowledge, the highest precision for copy number variation and single nucleotide variation. Most noticeably, it allows for detection of kilobase-deletions not detectable by previous single-cell WGA methods.

2:05 CLIA 대응 태아 세포 기반 비침습성 출생전 검사의 도입을 향한 밸리데이션 연구

Art Beaudet, M.D., Department of Molecular & Human Genetics, Baylor College of Medicine

Steady progress has been achieved towards a fetal trophoblast-based form of NIPT. From 3-10 cells can be recovered at 8-14 weeks gestation in the majority of pregnancies. Individual cells are subjected to whole genome amplification and genotyping followed by copy number analysis using whole genome shotgun next-generation sequencing. Numerous sub-chromosomal abnormalities have been detected.

2:35 임부 혈액중 태아 세포로부터의 DNA를 이용한 게놈 분석 - 셀 기반 NIPT(cbNIPT) 사례

Ripudaman Singh, Ph.D., COO, ARCEDI Biotech Aps (Denmark)

Non-Invasive Prenatal Testing based on fetal cells in maternal blood (cbNIPT) has an advantage over the cell-free NIPT (cfNIPT) in that the fetal DNA is not contaminated with the maternal DNA, and hence holds a potential for larger genomic coverage, higher detection rate and lower false positive rate of prenatal genetic testing. We present a high throughput method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome.

3:05 전시회장 휴식시간, 포스터 발표 관람

3:45 순환 태아유핵세포의 격리와 특성화를 위한 NanoVelcro 칩 - 비침습성 출생전진단 지향

Hsian-Rong Tseng, Ph.D., Professor, Molecular & Medical Pharmacology, University of California, Los Angeles

In contrast to the existing rare-cell sorting approaches, our joint research team at UCLA pioneered the concept of "NanoVelcro" cell-affinity assay, in which a capture antibody-coated nanosubstrate substantially enhances the performance of rare cell enrichment from blood. The ways in which different generations of NanoVelcro Chips were employed in streamlined workflows to isolate and characterize single circulating fetal nucleated cells (CFNCs, including both trophoblast and fetal nucleated red blood cells) in maternal blood will be presented. Using maternal blood samples collected from expectant mothers who carried single fetuses, the CFNC-derived CGH microarray data were able to detect fetal genders and chromosomal aberrations, which had been confirmed by standard clinical practice. In addition to sharing our latest research progress in developing CFNC-based noninvasive prenatal diagnostic (NIPD) solutions, the challenges that still need to be resolved will be presented.

4:15 모체혈로부터의 태아 세포 격리의 진보

Brynn Levy, MSc (Med), Ph.D., FACMG, Professor of Pathology & Cell Biology, Columbia University Medical Center; Director, Clinical Cytogenetics Laboratory, Co-Director, Division of Personalized Genomic Medicine, College of Physicians and Surgeons

4:45 비침습성 출생전 유전자질환의 진단을 위한 영양막세포의 감수성 높은 격리와 유전자 특성화의 기술 동향

Patrizia Paterlini-Brechot, Ph.D., Cellular & Molecular Biology, University of Paris Descartes (France)

Isolation of rare trophoblastic cells from blood or from cervix is a technical challenge with impact on the number of collected fetal cells and on the quality of their DNA. By using the ISET (Isolation by Size of Epithelial Tumor/Trophoblastic cells) system, we have developed different isolation protocols and analyzed the number of collected trophoblastic cells and the quality of their DNA at the single cell level. Our results show that ISET allows the consistent recovery of trophoblastic cells from blood and cervical samples and their complete genetic analysis. They also show that high throughput protocols can be developed aiming the use of trophoblastic cells collected non invasively for prenatal diagnosis of genetic disorders.

Dennis Lo5:15 기조 강연
비침습성 출생전 검사의 한계에 대한 도전

Y.M. Dennis Lo, Ph.D., Chairman, Chemical Pathology and Director, Li Shing Institute of Health Science, The Chinese University of Hong Kong

Non-invasive prenatal testing using circulating fetal DNA in maternal plasma has been introduced globally over the past 5 years. My group is working on extracting diagnostic information that is hidden in the plasma DNA pool. One area is research concerning the tissue of origin of plasma nucleic acids. Hence, using thousands of methylation markers exhibiting tissue-associated methylation signatures, we are able to provide new insights into the origin of plasma DNA and to attribute an observed aberration in plasma DNA to its source. These new results and other emerging developments in non-invasive prenatal testing will be discussed.


6:00 첫째날 종료

첫째날 | 둘째날 | 셋째날

11월 30일(수)


8:00 아침식사 및 좌담회

  • Can or Should Any Current Prenatal Testing Components Be Replaced?
  • Ethical and Genetic Counselling Challenges for Prenatal Testing
  • Intellectual Property Issues with New Prenatal Testing Technologies
  • Economics of Prenatal Testing Options and Reimbursement
  • Implications for Expanding Cell-Free DNA Screening for Lower Risk Mothers
  • Commercial Potential for Non-Invasively Obtained Fetal Cells
  • Prenatal Testing beyond Common Aneuploidies
  • Bioinformatics Issues for Sequence-Based Testing
  • Developing Biomarkers for Preeclampsia and Pre-Term Birth
  • Cell-Free DNA Screening


무세포 DNA 스크리닝

9:00 의장 인사

Joe Leigh Simpson, M.D., Senior Vice President, Research & Global Programs, March of Dimes Foundation

9:05 확대하는 NIPS의 리소스와 방침에 대한 영향

Megan Allyse, Ph.D., Assistant Professor of Biomedical Ethics, The Mayo Clinic

There are two major directions for more expanded application of NIPS. One direction involves greater depth of testing with higher risk pregnancies, by including microdeletions and other sub-chromosomal genetic conditions. The other direction involves additional patients, specifically more general population pregnancies. Both of these cases create additional public health burdens that will need to be addressed systemically if NIPS is to succeed as a routine medical procedure. Specific examples and budgetary implications will be discussed.

9:35 무세포 DNA 스크리닝에서는 불가능한 것

Mark Evans, M.D., President, Fetal Medicine Foundation of America; Professor of Obstetrics and Gynecology, Mt. Sinai School of Medicine; Comprehensive Genetics

Major advances in technology have vastly improved the scope and reliability of cell free fetal DNA. However, simultaneously similar improvements to microarray techniques now show clinically abnormal CNVs in about 1% of all CVS or amniocentesis specimens on low risk patients. Particularly for younger women the rate of finding an abnormal CNV is 10x that of Down syndrome. Thus, the effort to abandon procedures in favor of cffDNA not only costs substantially more, but detects far less. In my program we offer CVS and microarray to all patients regardless of age because of the yield of 1% which approximates the expected traditional rate of abnormalities in a 38 year old - far higher than the threshold typically used in prenatal diagnosis for the past 4 decades.

10:05 이수성을 위해 확대되는 NIPS의 현황

Peter Benn, Ph.D., Department of Genomics and Genome Sciences, University of Connecticut Health Center

Non-invasive prenatal screening (NIPS) based on cell-free DNA in maternal plasma has expanded to include additional chromosome abnormalities beyond those involving chromosomes 21, 18, 13, X and Y. This includes unbalanced chromosome rearrangements, marker chromosomes, rare autosomal aneuploidies and also sets of specific microdeletion syndromes. In this presentation, I will review the current status of this testing, discuss clinical utility, and present some of the interpretation issues associated with expanded NIPT.

10:35 전시회장 휴식시간, 포스터 발표 관람

11:15 게놈 규모의 출생전 무세포 DNA 검사:임상적 적절성과 시험소의 경험

Daniel S. Grosu, M.D., MBA, CMO, Clinical and Medical Affairs, Sequenom, Inc.

A significant proportion of chromosomal and sub-chromosomal abnormalities in the prenatal setting are not detectable by conventional cfDNA testing. Most of this informational gap can be bridged through a genome-wide approach that reports on copy number variation at a karyotype level of resolution (≥7 Mb in size) across the entire genome, in addition to select microdeletions less than 7 Mb in size. Clinical experience with genome-wide NIPT findings in a cohort of over 10,000 patients will be reviewed, alongside the clinical relevance of such findings.

11:30 스폰서 제공 프레젠테이션

11:45 무세포 DNA 검사 분야의 IP 문제

Konstantin Linnik, Ph.D., Partner, Intellectual Property, Nutter, McClennan & Fish LLP

Three recent U.S. Supreme Court decisions (Mayo, Myriad, and Alice) have produced a landslide change in IP protection for diagnostics. As a result, patent applicants and patent holders have been battled at the US Patent Office and the US courts. Many players are forced out of patent protection altogether. The currently pending case Ariosa v. Sequenom is seminal in attempting to re-dress the issues: Current state of IP protection in the U.S. and abroad for diagnostics, substance of Ariosa v. Sequenom case and how it relates to prior Supreme Court decisions, industry position, and potential future developments and practical approaches.

12:15 런치 프레젠테이션 또는 개별 점심식사

1:45 환자의 NIPS로의 인폼드 액세스를 보증하기 위해 필요한 전략과 구조

Ruth Farrell, M.D., Department of Obstetrics & Gynecology, Cleveland Clinic Foundation

There are a range of factors that have an impact on patient access to NIPS. One aspect of that involves patients learning about NIPS, having healthcare benefits in place to financially afford NIPT, and obtaining the resources to make an informed choice about if, when, and how to utilize it. Another involves providers, for which proper workflow is a key aspect. It is also about providers' education and skills to help patients make informed choices about NIPT in the context of their other screening and diagnostic testing options. Experience with these issues in a clinical setting will be presented.

2:15 프래그먼트 엔드포인트가 밝히는 DNA 순환 DNA의 원발 조직

Matthew Snyder, Ph.D., University of Washington

2:45 스폰서 제공 프레젠테이션

3:15 전시회장 휴식시간, 포스터 발표 관람


4:00 무세포 DNA 스크리닝 프로바이더와의 패널 디스커션

Panelists:

Marcia Eisenberg, Ph.D., CSO, Labcorp

Solomon Moshkevich, Vice President, Product & Strategy, Natera

Peter Collins, CBO, Premaitha Health

Douglas Rabin, M.D., Medical Director, Women's Health, Quest Diagnostics

Daniel Grosu, M.D., MBA, CMO, Sequenom


5:30 전시회장 네트워킹 리셉션, 포스터 발표 관람

7:00 둘째날 종료

첫째날 | 둘째날 | 셋째날

12월 1일(목)

8:00 모닝커피


임신 중독증과 조산의 바이오마커

9:00 의장 인사

9:05 혈청 및 생물물리학적 마커를 이용한 임신 중독증의 조기 임신 검사

Howard Cuckle, Ph.D., OBGYN, Tel Aviv University, (Israel) and OBGYN, Columbia University Medical Center

One reason for retaining maternal serum markers and opting for contingent cfDNA rather than universal cfDNA testing is the value of maternal markers for detecting adverse outcomes such as pre-eclampsia. The use of a combination of two maternal serum markers and two biophysical markers can provide a useful means for early pregnancy (11-13 weeks) screening for pre-eclampsia. With such screening, aspirin can be effective in preventing pre-eclampsia if taken early enough.

9:35 임신중 Transcriptomic Clock

Thuy Ngo, Ph.D., Department of Bioengineering, Stanford University (Stephen Quake's Lab)

Investigating and tracking the changes of the transcriptome during the course of pregnancy can help in the identification of abnormalities or adverse states readily. We have used next generation sequencing and quantitative PCR (qPCR) to analyze cell-free RNA in plasma from pregnant women at various time points across gestation. Differential expression analysis of cell-free RNA sequencing revealed distinct longitudinal patterns for several groups of genes modulated in pregnancy. These include immune modulation genes, placenta specific genes which we further monitored at high time resolution by qPCR measurements along with fetal specific genes from plasma collected weekly during pregnancy. Our results demonstrate that cell-free RNA can be used for noninvasive monitoring of both maternal responses and fetal development during pregnancy.

10:05 자연 조산에 관련한 유전자 시그니처

Iya Khalil, Ph.D., Executive Vice President and Co-Founder, GNS Healthcare

Molecular markers associated with spontaneous premature birth (<37 weeks gestation) have been difficult to identify owing to heterogeneous clinical presentations and a multiplicity of pathways that regulate parturition. We analyzed genetic, molecular, and clinical data of expectant families to identify markers for longitudinal prenatal analysis and risk prediction using a big data machine learning analytics approach. Preterm birth was found to be associated with multiple markers and risk factors, which are potentially useful to predict gestational duration.

10:35 전시회장 휴식시간, 포스터 발표 관람


11:15 클로징 패널:출생전 분자진단의 동향 예측:향후 수년간 동향

Art Beaudet, M.D., Department of Molecular & Human Genetics, Baylor College of Medicine

Mark Evans, M.D., Professor, Obstetrics & Gynecology, Mt. Sinai School of Medicine, and Comprehensive Genetics

Cynthia Morton, Ph.D., William Lambert Richardson Professor of Obstetrics, Gynecology & Reproductive Biology and Professor of Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women's Hospital

Joe Leigh Simpson, M.D., Senior Vice President, Research & Global Programs, March of Dimes Foundation

Ronald Wapner, M.D., Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center


12:15 Prenatal Molecular Diagnostics 컨퍼런스 종료



프로그램 어드바이저

David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President and CSO, Geisinger Health System

Joe_SimpsoJoe Leigh Simpson, M.D., Senior Vice President for Research and Global Programs, March of Dimes Foundation

 

arthur_beaudetArthur Beaudet, M.D., Chair, Department of Molecular & Human Genetics, Baylor College of Medicine

Cynthia_MortonCynthia Morton, Ph.D., William Lambert Richardson Professor of Obstetrics, Gynecology & Reproductive Biology and Professor of Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women's Hospital

Ronald_WapnerRonald J. Wapner, M.D., Director, Reproductive Genetics & Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center


* 주최측 사정에 따라 사전 예고없이 프로그램이 변경될 수 있습니다.




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