Fourth Annual Advances in Prenatal Molecular Diagnostics
-第四屆產前分子診斷最新動向年會-
地點:美國馬薩諸塞州劍橋,Boston Marriott Cambridge
日期:2016年11月29日 - 12月1日

議程最終版本完成

從母體血液採集無細胞DNA的次世代定序逐漸被接受及使用,對產前檢查產生巨大影響。選擇侵入性檢查的女性人數確實減少便是其中之一,陣列的染色體分析,在某些情況下樣本解析的定序逐漸受到替換。

用於無細胞DNA檢測的方法持續增加,用於公司內部分析的kit被釋出,俗稱的第二代試驗可提供大幅改良的次染色體異常檢測結果。NIPT在高風險懷孕以外亦試圖導入普及,而檢查所報告的基因條件範圍擴展。不過,這些轉變需要強迫犧牲。

從母體血液隔離胎兒細胞的檢查已有十多年的發展歷史。關於本方法是否能夠商品化已有許多討論。以本研討會的上屆大會為首,討論的主題已變成本方法「何時」能夠商品化。許多團體報導了他們完成可靠隔離的卓越進展,使其成為可能。本年度年會將針對這些主題的最新動向、驗證內容、各種方法的導入等進行熱烈討論,也將針對本領域的前進方向、研究人員、試驗供應商、臨床醫師、診所等未來展望進行意見交換,探索未來動向的指標。

Dennis Lo專題演講
因應非侵入性產前檢查極限的動態

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


議程

第1天 | 第2天 | 第3天

11月29日(二)

7:30 am 報到手續與早安咖啡


概要

8:30 主席致詞

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

8:40 胎兒異常的動向與影響: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 各種產前檢查方法的診斷價值及其風險比較

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 醫療經濟的證據對新興產前檢查的補償與償還所帶來的影響

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 產前設施的基因諮詢展望及課題

Speaker to be Announced

11:00 為了應用NIPT與PGS導入病患的Seraseq™異數性參考資料

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 回答懷孕中感染滋卡病毒的相關疑問

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 午餐會報或各自午餐


從母體血液隔離與分析胎兒細胞

1:30 主席致詞

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

1:35 PGD/PGS及NIPT的高精密單細胞基因體學

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 以對應CLIA的胎兒細胞非侵入性產前檢查導入之各種研究

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 使用產婦血液中的胎兒細胞萃取DNA進行基因分析 - 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 展示會大廳休息、觀看海報

3:45 為了分離及特性化循環胎兒有核細胞的NanoVelcro晶片 - 非侵入性產前診斷

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 從母體血液分離胎兒細胞的進步

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 用於非侵入性產前基因疾病診斷的營養膜細胞高感度分離及基因特性分析的技術動向

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 主題演講
非侵入性產前檢查極限的動向

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 第一天結束

第1天 | 第2天 | 第3天

11月30日(三)


8:00 早餐與座談會

  • 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


無細胞DNA篩檢

9:00 主席致詞

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

9:05 NIPS來源的擴大及對方針的影響

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 無細胞DNA篩檢辦不到的事

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 為了異數性而擴大的NIPS現況

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 展示會大廳休息、觀看海報

11:15 基因體規模的產前無細胞DNA檢查:臨床妥當性與試驗所的經驗

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 贊助商發表

11:45 無細胞DNA檢查領域的IP問題

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 午餐會報或各自午餐

1:45 確保病患對NIPS的告知存取之策略與結構需求

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 片段終點是循環DNA的原發組織一事已經明朗化

Matthew Snyder, Ph.D., University of Washington

2:45 贊助商發表

3:15 展示會大廳休息、觀看海報


4:00 無細胞DNA篩選供應商的專題討論

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 展示會大廳社交酒會、觀看海報

7:00 第2天結束

第1天 | 第2天 | 第3天

12月1日(四)

8:00 早餐咖啡


子癇前症與早產的生物標記

9:00 主席致詞

9:05 使用血清及生物物理學標記的子癲前症早期產檢

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 孕期中基因轉錄體時鐘

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 與自然早產有關的基因特徵

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 展示會大廳休息、觀看海報


11:15 閉幕演講:產前分子診斷的動向預測:未來數年的動向

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年會閉幕



議程顧問

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


* 活動內容有可能不事先告知作更動及調整。




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