Fourth Annual Advances in Prenatal Molecular Diagnostics
-第四届产前分子诊断最新动向年会-
地点:美国马萨诸塞州剑桥,Boston Marriott Cambridge
日期:2016年11月29日 - 12月1日

议程最终版本完成

从母体血液采集无细胞DNA的次世代定序逐渐被接受及使用,对产前检查产生巨大影响。选择侵入性检查的女性人数确实减少便是其中之一,阵列的染色体分析,在某些情况下样本解析的定序逐渐受到替换。

用于无细胞DNA检测的方法持续增加,用于公司内部分析的kit被释出,俗称的第二代试验可提供大幅改良的次染色体异常检测结果。NIPT在高风险怀孕以外亦试图导入普及,而检查所报告的基因条件范围扩展。不过,这些转变需要强迫牺牲。

从母体血液隔离胎儿细胞的检查已有十多年的发展历史。关于本方法是否能够商品化已有许多讨论。以本研讨会的上届大会为首,讨论的主题已变成本方法「何时」能够商品化。许多团体报导了他们完成可靠隔离的卓越进展,使其成为可能。本年度年会将针对这些主题的最新动向、验证内容、各种方法的导入等进行热烈讨论,也将针对本领域的前进方向、研究人员、试验供应商、临床医师、诊所等未来展望进行意见交换,探索未来动向的指标。

Dennis Lo专题演讲
因应非侵入性产前检查极限的动态

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


议程

第1天 | 第2天 | 第3天

11月29日(二)

7:30 am 报到手续与早安咖啡


概要

8:30 主席致词

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

8:40 胎儿异常的动向与影响:超越核型分析

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 各种产前检查方法的诊断价值及其风险比较

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 医疗经济的证据对新兴产前检查的补偿与偿还所带来的影响

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 休息

10:30 产前设施的基因谘询展望及课题

Speaker to be Announced

11:00 为了应用NIPT与PGS导入病患的Seraseq™异数性参考数据

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 回答怀孕中感染滋卡病毒的相关疑问

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 午餐会报或各自午餐


从母体血液隔离与分析胎儿细胞

1:30 主席致词

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

1:35 PGD/PGS及NIPT的高精密单细胞基因体学

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 以对应CLIA的胎儿细胞非侵入性产前检查导入之各种研究

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 使用产妇血液中的胎儿细胞萃取DNA进行基因分析 - cbNIPT的案例

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 展示会大厅休息、观看海报

3:45 为了分离及特性化循环胎儿有核细胞的NanoVelcro芯片 - 非侵入性产前诊断

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 从母体血液分离胎儿细胞的进步

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 用于非侵入性产前基因疾病诊断的营养膜细胞高感度分离及基因特性分析的技术动向

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 主题演讲
非侵入性产前检查极限的动向

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 第一天结束

第1天 | 第2天 | 第3天

11月30日(三)


8:00 早餐与座谈会

  • 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


无细胞DNA筛检

9:00 主席致词

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

9:05 NIPS来源的扩大及对方针的影响

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 无细胞DNA筛检办不到的事

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 为了异数性而扩大的NIPS现况

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 展示会大厅休息、观看海报

11:15 基因体规模的产前无细胞DNA检查:临床妥当性与试验所的经验

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 赞助商发表

11:45 无细胞DNA检查领域的IP问题

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 午餐会报或各自午餐

1:45 确保病患对NIPS的告知存取之策略与结构需求

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 片段终点是循环DNA的原发组织一事已经明朗化

Matthew Snyder, Ph.D., University of Washington

2:45 赞助商发表

3:15 展示会大厅休息、观看海报


4:00 无细胞DNA筛选供应商的专题讨论

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 展示会大厅社交酒会、观看海报

7:00 第2天结束

第1天 | 第2天 | 第3天

12月1日(四)

8:00 早餐咖啡


子痫前症与早产的生物标记

9:00 主席致词

9:05 使用血清及生物物理学标记的子癫前症早期产检

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 孕期中基因转录体时钟

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 与自然早产有关的基因特徵

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 展示会大厅休息、观看海报


11:15 闭幕演讲:产前分子诊断的动向预测:未来数年的动向

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年会闭幕



议程顾问

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


* 活动内容有可能不事先告知作更动及调整。




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