Fourth Annual Advances in Prenatal Molecular Diagnostics
-第4回年次学会:出生前分子診断の最新動向-
開催地:米国マサチューセッツ州ケンブリッジ、Boston Marriott Cambridge
開催日:2016年11月29日 - 12月1日

アジェンダの最終版が完成しました

母体血からの無細胞DNAベーススクリーニングが認知され利用可能になるにつれ、出生前検査に大きな影響を及ぼすようになっています。ひとつは、侵襲性検査を選択する女性の数が着実に減少していることです。試料の解析のために、核型分析から転換し、配列、またはある場合にはシーケンシングが好まれるようになっています。

無細胞DNA検査に用いられる手法が広がり続けており、社内分析のためのキットがリリースされたり、サブ染色体異常の検出を大幅に改良したいわゆる第二世代のアッセイが用いられています。ハイリスク妊娠以外にもNIPTの使用を拡大しようとする動きがあるほか、検査から報告される遺伝子条件の幅が広がっていますが、こうした変化には犠牲が伴います。

母体血から胎児細胞を隔離して検査する方法に対する研究は十数年にわたり行なわれてきました。“この方法が商品化できるか”という点でこれまで議論が行われてきました。そして昨年の同学会ではじめて、“この方法をいつ商品化するか”という議論にシフトしました。多くの団体がそれを可能にする信頼性ある隔離を行なうための実質的な進歩を報告したためです。今年の学会ではこれらのテーマの最新動向と検証内容、様々なアプローチの導入などが活発に議論されるほか、この分野の進む方向性や研究者、試験プロバイダー、臨床医、診療所などがこれらの動向について考慮する道しるべとなるよう今後の展望が話し合われる予定です。

Dennis Lo基調講演
非侵襲性出生前検査の限界に対する動き

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


アジェンダ

1日目 | 2日目 | 3日目

11月29日(火)

7:30 am 登録手続きとモーニングコーヒー


概要

8:30 議長の挨拶

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

8:40 胎児異常の動向と影響:核型分析を超えて

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 出生前診断方法についてのそれぞれの診断価値とそれぞれのリスク比較

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 医療経済の証拠が新たな出生前診断の補償と償還に及ぼす影響

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 休憩

10:30 出生前施設における遺伝子カウンセリングの展望と課題

Speaker to be Announced

11:00 NIPTとPGSに応用するための患者様Seraseq™異数性参照材料の導入

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 妊娠中のジカウイルス感染に関する質疑応答

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 ランチプレゼンテーションまたは各自での昼食


母体血からの胎児細胞の隔離と分析

1:30 議長の挨拶

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

1:35 PGD/PGSおよびNIPTのための高精密単細胞ゲノミクス

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対応胎児細胞ベースの非侵襲性出生前検査の導入に向けたバリデーション研究

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 妊婦の血液中の胎児細胞からのDNAを利用したゲノム分析 − セルベースNIPT(cbNIPT)の事例

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 展示会ホールでの休憩、ポスター発表見学

3:45 循環胎児有核細胞の隔離と特性化のためのNanoVelcroチップ − 非侵襲性出生前診断に向けて

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 母体血からの胎児細胞の隔離における進歩

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 非侵襲性の出生前遺伝子疾患の診断のための栄養膜細胞の感受性の高い隔離と遺伝子特性化の技術動向

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 基調講演
非侵襲性出生前検査の限界に向けた動き

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1日の終了

1日目 | 2日目 | 3日目

11月30日(水)


8:00 朝食および座談会

  • 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


無細胞DNAスクリーニング

9:00 議長の挨拶

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

9:05 拡大するNIPSのリソースと方針への影響

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スクリーニングでは不可能なこと

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 異数性のための拡大するNIPSの現況

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 展示会ホールでの休憩、ポスター発表見学

11:15 ゲノム規模での出生前無細胞DNA検査:臨床的適切性と試験所の経験

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 スポンサー提供のプレゼンテーション

11:45 無細胞DNA検査分野における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 ランチプレゼンテーションまたは各自での昼食

1:45 患者のNIPSへのインフォームドアクセスを保証するために必要な戦略と構造

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 フラグメントエンドポイントがDNA循環DNAの原発組織を明らかにする

Matthew Snyder, Ph.D., University of Washington

2:45 スポンサー提供のプレゼンテーション

3:15 展示会ホールでの休憩、ポスター発表見学


4:00 無細胞DNAスクリーニングプロバイダーとのパネルディスカッション

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 展示会ホールでのネットワーキングレセプション、ポスター発表見学

7:00 第2日の終了

1日目 | 2日目 | 3日目

12月1日(木)

8:00 モーニングコーヒー


子癇前症と早産のバイオマーカー

9:00 議長の挨拶

9:05 血清および生物物理学的マーカーを用いた子癇前の早期妊娠検査

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 妊娠中のトランスクリプトミッククロック

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 自然早産に関連した遺伝子シグネチャー

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 展示会ホールでの休憩、ポスター発表見学


11:15 最終学会:出生前分子診断の動向予測:今後数年の動向

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学会の終了



プログラムアドバイザー

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


* 不測の事態により、事前の予告なしにプログラムが変更される場合があります。




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