Third Annual Advances in Prenatal Molecular Diagnostics
- 第3回年次学会:出生前分子診断の最新動向 -
2015年11月16 - 18日
米国、マサチューセッツ州、ボストン、オムニ パーカー ハウス ホテル

母体血から採取した無細胞DNAの次世代シーケンシングによるNIPTが利用可能となり認知されるようになったことで、出生前検査に大きな影響を及ぼしています。そのひとつが、侵襲的検査を選ぶ女性の数が確実に減少したことで、アレイによる染色体分析、ある場合にはサンプル解析のシーケンシングが置き換えられるようになっています。非侵襲的検査については、大手検査サービスプロバイダーの間で大きな差が生じています。ハイリスク妊娠以外にもNIPTの導入を普及しようとする動きがあり、検査により報告される遺伝子条件の範囲が広がっています。しかしこうした変化には犠牲が強いられます。母体血からの胎児細胞の隔離による検査は、無細胞DNA検査の代わりとして魅力的なものですが、この手法の商品化にあたっては多くの課題が待ち受けています。こうした問題の検証と最新動向の比較、ならびに様々なアプローチの導入などにより、同分野が向かう方向性について再び活発なディスカッションを行ない、研究者、検査プロバイダー、臨床医、および診療所が検討すべき課題を深く追求します。

アジェンダ


1日目 | 2日目 | 3日目


11月16日(月)

8:00 登録手続きとモーニングコーヒー


侵襲的に入手したサンプル

9:00 議長による開会の挨拶

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


9:10 侵襲的出生前診断の将来とは

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

Many pundits have suggested that in the near future invasive prenatal diagnostic testing will be unnecessary. Despite these dire predictions it is unlikely that this will occur. Risks to the pregnancy are extremely low and no other approach is capable of revealing within a clinically reasonable time period as much information about the fetus.

9:40 染色体構造の再設定には臨床的解釈のためのヌクレオチドの分解が必要

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

Nucleotide resolution of chromosomal structural rearrangements detected in the prenatal setting is now possible in an actionable timeframe through next-gen sequencing methods, ushering in a new standard of care in clinical cytogenetics. Interpretation of phenotypic outcomes of disrupted and potentially dysregulated genes is informed by localization of topological associated domains with respect to chromosomal breakpoints, convergent genomic evidence, and quantitative assessment of transcripts in rearranged regions.

10:10 診断用エクソームシーケンシングのための生殖遺伝子カウンセリングの課題

Ignatia B. Van den VeyerIgnatia B. Van den Veyer, M.D., Professor, Maternal-Fetal Medicine & Genetics, Baylor College of Medicine

Experience with diagnostic fetal whole exome sequencing (WES) is still limited. Guidelines on the types of results to report on fetuses and their parents are not yet available and experience with genetic counseling challenges and outcomes for fetal WES testing is limited. Patients receive reproductive genetic counseling either for a result in a family member that has implications for a current or planned pregnancy, or for consideration of diagnostic fetal WES for an ongoing pregnancy. In the latter, pathogenic variants can be detected in at least 30%. Challenges related to complexity and uncertainty of results, turn-around time, cost and insurance overage, and multidisciplinary fetal care coordination.

10:40 休憩

11:15 知識の展開:新規の出生前分子遺伝子検査の臨床における導入を促進するための革新的教育戦略

Valerie DesiletsValerie Desilets, M.D., Medical Geneticist, Departments of Pediatrics and Obstetrics-Gynecology, University of Sherbrooke (Canada)

The introduction of new prenatal genetic testing, such as array-based technologies and next-gen sequencing of cell-free DNA in maternal blood, has significantly changed the investigation in prenatal diagnosis. The clinical implementation of such technologies mandates a careful evaluation of the current educational interventions to help clinicians understand the evolving indications and limitations of these tests. Educational leaders must consider the barriers and facilitators to changing practice, and evaluate the effectiveness of their dissemination and implementation strategies. Innovative educational strategies are required to face the challenges of rapidly changing knowledge, at the intersections of research and clinical medicine, in the multidisciplinary field of prenatal diagnosis.

11:45 遺伝子カウンセリングの課題:患者に寄り添う出生前診断の道

Mary-Frances GarberMary-Frances Garber, MS, CGC, Private Practice: Listening, Reflecting, Healing

With the advancements in screening and testing options, patients have a menu they can select from in an attempt to gain reassurance about the health of their baby, or to obtain a prenatal diagnosis of a certain condition. Genetic counselors have always had the responsibility of educating patients regarding the specifics surrounding these testing options,but perhaps more importantly travelling with and supporting couples on their prenatal diagnosis journey. Some of the ways genetic counseling has changed, as well as specific cases to illustrate counseling challenges, will be presented.

12:15 昼食プレゼンテーション:非侵襲的出生前スクリーニング(NIPS)のためのSeraseq™異数性標準物質

Russell GarlickRussell Garlick, Ph.D., CSO, SeraCare Life Sciences

The detection of circulating cell-free fetal DNA (cfDNA) in maternal blood by next-generation sequencing is becoming the preferred method to screen for fetal aneuploidy. As the market rapidly moves from high risk screening to "population" screening there is a need for reliable controls. The use of proper controls, standards and reference materials has always been central to all molecular diagnostic laboratory quality management systems in order to ensure accurate results are reported. This presentation will focus on a new generation of NGS aneuploidy controls for non-invasive prenatal screening assays.

12:45 休憩


非侵襲的出生前診断(NIPD)

1:45 議長の発言

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


1:50 出生前診断の経済分析

Aaron CaugheyAaron Caughey, Ph.D., Professor and Chair, Department for Women's Health Research & Policy, Oregon Health & Science University

There are a number of important economic considerations related to prenatal diagnosis. An analysis of both short- and long-term costs, as well as the impact on quality-adjusted life years related to prenatal diagnostic decision making, will be presented. Specific analytic approaches related to cost-effectiveness will also be explored.

2:20 NIPTをハイリスクだけでなくすべての妊娠に拡大することへの賛否両論

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

Detection of fetal aneuploidy through cell-free fetal DNA in maternal blood unequivocally is superior to traditional serum analyte/nuchal translucency. Sensitivity for tested aneuploids is higher (trisomy 21 > 99% versus at best 92-93%) and false rates much lower (0.1% versus 5%). Even greater value will be gained when NIPT can routinely yield information comparable to array CGH or at least karyotypes (5-7 Mb aberrations). Ability to extend further into transcriptomics will allow monitoring fetal development beyond traditional fetal genetic disorders.

2:50 大規模総合ヘルスケアシステムにおける無細胞胎児DNAスクリーニング

Jeffrey GreenbergJeffrey Greenberg, MS, Genetic Screening Program Director, Genetic Services, SC Permanente Medical Group

The workflow, uptake, performance and outcomes of cell-free fetal DNA prenatal screening in a large integrated health care system will be presented. Prenatal screening in California is unique in its standardization under the Department of Public Health, which mandates the offering of, and oversees the testing and follow-up for, statewide analyte screening. Statistics for 1.5 years of cell-free DNA testing in a high-risk population will also be discussed.

3:20展示会ホールでの休憩、ポスター発表の見学

4:00 NIPTの導入:技術的発展のケーススタディ

Gautam KolluGautam Kollu, Head, Market Development, Reproductive and Genetic Health, Illumina

Since its introduction in 2012, NIPT has become the fastest adopted test in the history of molecular diagnostics and is currently the most widely used NGS clinical test. In the past two years, various labs have introduced panels and technological advancements that have expanded the clinical applications of NIPT. This talk will cover the evolution of NIPT from a focused test to its current state, with an eye on how the testing infrastructure has changed globally from a few California labs to labs worldwide doing this test.

4:30 スクリーニング母集団における医療経済学

Sabah OneySabah Oney, Ph.D., Director, Business Development,
Operations, Ariosa Diagnostics, Inc.



5:00 IONA®検査(CE-IVD)の臨床実績

William (Pepper) DenmanWilliam (Pepper) Denman, M.D., CMO, Premaitha Health

The IONA® test (CE-IVD) offers accurate non-invasive prenatal screening for Trisomy 21, 18 and 13 with a significant reduction in time to report results. Clinical performance to date of the IONA® test and the advantages offered to the clinical team will be highlighted.

NIPD Genetics5:15 非侵襲的出生前検査の精度の確立とバリデーション

Philippos C. PatsalisPhilippos C. Patsalis, Ph.D., Head of Translational Genetics,
The Cyprus Institute of Neurology and Genetics

The Veracity is a new Non-Invasive Prenatal Test, which was developed and validated to serve as an accurate and affordable screening test for trisomies 21, 18 and 13. Veracity is a novel targeted NIPT approach following the design of specific regions on chromosomes 13, 18, 21, X and Y, capture and alignment of DNA fragments, and count and sophisticated analysis to achieve binary risk classification. The new test was validated by two blind independent clinical studies for the total of 706 samples, providing outstanding accuracy for trisomies 21, 18, 13 and gender determination. The Veracity test is available internationally as an affordable and very accurate screening test as of May 2015.

5:30展示会ホールでの歓迎レセプション、ポスター発表の見学

6:30 1日目終了


1日目 | 2日目 | 3日目


11月17日(火)

7:45 登録手続き


8:00 分科会ディスカッション

議論されるトピック: 

  • 侵襲的に入手したサンプルのマイクロアレイとシーケンス分析のベストプラクティス
  • 出生前検査の経済学
  • 出生前診断に関する倫理および遺伝子カウンセリング問題
  • NIPTによる胎児画分決定の価値
  • 低リスク妊娠を対象としたNIPTの実施に関する賛否両論
  • NIPTの解釈のためのバイオインフォマティクス
  • 単一遺伝子疾患の検査
  • 微小欠失、挿入、コピー数の多様性、および転座の評価
  • 少量の胎児細胞サンプルの全ゲノム増幅における課題
  • 胎児細胞NIPDの商品化に向けた課題と展望
  • 子癇前症および早期陣痛のリスクを評価するためのバイオマーカー


非侵襲的出生前診断(NIPD)(つづき)

8:55 議長の発言

David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President & CSO, Geisinger Health Systems


9:00 単一遺伝子疾患の非侵襲的出生前診断分野における分子診断の発展:これまでの実績と将来的展望

Michael ParksMichael Parks, Ph.D., Developmental Scientist, Regional Genetics, Birmingham Women's NHS Foundation Trust (United Kingdom)

NIPT of aneuploidies using cell free fetal DNA is now an established method offered in many countries, including the US and the UK. Although research has proven that non-invasive prenatal diagnosis (NIPD) of single gene disorders is also possible, the relevant costs for these tests have been high. We have developed a molecular diagnostic method for NIPD of single gene disorders which has proven to be both accurate and affordable. After having successfully tested numerous patients at risk of bearing a child affected by Duchenne/Becker muscular dystrophies, we are now adapting our method to test patients for other single gene disorders. By being accurate, affordable and easily adaptable to detect most single gene disorders, our method could allow clinical genetics laboratories to offer safe and accurate NIPD of single gene disorders to their patients.

9:30 大規模集団を用いた単一遺伝子疾患の出生前検査:カップルスクリーニングの事例

Glenn E. PalomakiGlenn E. Palomaki, Ph.D., Associate Professor, Pathology and Laboratory Medicine, Women & Infants Hospital and the Alpert Medical School at Brown University

The field of prenatal screening is experiencing a rapidly expanding ability to simultaneously test for many single gene disorders. The introduction of such tests is hampered, however, by several implementation issues that may have at least a partial solution in offering such testing to couples rather than the mother then father in a long-standing sequential model. The methods and history of couple screening will be reviewed. Some of the issues relating to implementation of newer approaches will also be discussed. Specific examples from currently offered tests will be given.

10:00 異数性を超えて:脳疾患の原因となるコピー数の多様性(CNV)の出生前検出と解釈

David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President & CSO, Geisinger Health Systems

Although individually rare, pathogenic CNVs are collectively common, occurring in ~1% of the general population and in low risk pregnancies. Many of these newly described CNV disorders are associated with significant cognitive (intellectual disability), behavioral (e.g., autism) and psychiatric (e.g., schizophrenia) manifestations and are therefore important for consideration in counseling regarding prenatal diagnostic options.

10:30展示会場での休憩、ポスター発表の見学


11:10 NIPTベンダーパネルディスカッション

Moderator: Phillips Kuhl, President, Cambridge Healthtech Institute

Panelists:

Sabah OneySabah Oney, Ph.D., Director, Business Development, Ariosa Diagnostics


Gautam KolluGautam Kollu, Head, Market Development, Reproductive and Genetic Health, Illumina


Philippos C. PatsalisPhilippos C. Patsalis, Ph.D., Head, Translational Genetics, The Cyprus Institute of Neurology and Genetics on behalf of NIPD Genetics Ltd.


John AnsonJohn Anson, Ph.D., Executive Vice President, Research & Development, Oxford Gene Technology


Peter CollinsPeter Collins, Chief Commercial Officer, Premaitha Health


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


Mathias Ehrich, Ph.D., Vice President, Research & Development, Sequenom


 

12:30プレゼンテーションを聞きながらの昼食会または各自で昼食


母体血から採取した胎児細胞の有望性と展望

1:45 議長の発言

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


1:50 TRIC:胎盤および胎児ゲノムを構築するための新しい境地

D. Randall ArmantD. Randall Armant, Ph.D., Professor, Obstetrics and Gynecology, Wayne State University School of Medicine

Safe access to fetal tissue during pregnancies is the "Holy Grail" of noninvasive prenatal testing. Trophoblast Retrieval and Isolation from the Cervix (TRIC) is a safe, noninvasive procedure that captures fetal placental cells as early as 3 weeks after conception, and holds promise for fetal genetic testing and assessment of maternal risk for obstetric complications. Characterization and performance of the process, which provides intact human genome for molecular analysis, will be presented. Because developmental errors in extravillous trophoblast cells contribute to preeclampsia, fetal growth restriction and miscarriage, genetic analysis of these cells from the first trimester can provide very informative diagnostic results.

2:20 非侵襲的出生前診断のため微細加工MEMS装置を用いるための胎児細胞捕獲

Fanqing ChenFanqing Chen, Ph.D., Chief Scientific Advisor, R&D, Basetra, Inc.

Fetal cell isolation from maternal blood for non-invasive prenatal diagnosis presents various challenges due to the rarity of such cells. Various approaches have been attempted to extract and analyze such cells for downstream genetic analysis and diagnostic assays, but with limited and variable success. Results related to fetal cell capture using a micro fabricated MEMS device and integrated microfluidic chip as an alternative strategy to non-invasive prenatal diagnostics.

2:50 無傷胎児細胞の回復と分析:DEPArrayを用いた非侵襲的出生前診断

Farideh BischoffFarideh Bischoff, Ph.D., Executive Director, Scientific Affairs, Silicon Biosystems, Inc.


3:20展示会場での休憩、ポスター発表の見学

4:00 非侵襲的出生前遺伝子検査のための無傷循環胎児細胞(CFC)の濃縮と遺伝子分析

David Deng, M.D., Ph.D., Chief Scientist, Next Generation Sequencing (NGS), Daan Gene Co., Ltd. of Sun Yat-Sen University

While NIPT based on sequencing of cell-free DNA has proven to be an effective non-invasive means to detect trisomies, using it for detection of many single gene or complex genetic diseases has been much more challenging. By applying unique cell stabilization reagents, intact fetal cells, which contain the entire and pure fetal genome, have been successfully isolated from all pre-term maternal samples tested as early as 6 ½ weeks of gestation. Preliminary clinical testing showed that intact CFCs were enriched from all samples tested, and tests indicated these cells are of fetal origin. The potential of using analysis of isolated fetal cells as an alternative or in addition cell-free DNA sequencing will be discussed.

4:30 セルベース非侵襲的出生前診断I:細胞回復

Steen KølvraaSteen Kølvraa, M.D., CSO, ARCEDI Biotech ApS (Denmark)

Many groups have over the years tried to develop methods for isolating sufficient fetal cells from maternal blood to perform NIPD¸ but lack of suitable markers has hampered these attempts. We have performed expression array analyses on isolated fetal cells and in this way indicated that a frequent fetal cell type in maternal blood is the endovascular trophoblast. We have used this data to identify two markers that identify fetal cells in maternal blood with very high specificity, facilitating efficient isolation of such fetal cells for non-invasive prenatal testing.

5:00 セルベース非侵襲的出生前診断II: 細胞の分析

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

We are focused on developing a fetal cell-based method of NIPT as a routine clinical test. In collaboration with multiple companies, we are now able to molecularly confirm recovery of fetal cells on a regular basis. Using whole genome amplification of 1-3 cells, it is possible to perform array CGH with these fetal cells.

5:30 胎児有核赤血球の隔離と分析の進捗

Brynn LevyBrynn 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

6:00 2日目終了


1日目 | 2日目 | 3日目


11月18日(水)


母体血から採取した胎児細胞の有望性と展望(つづき)

8:00プレゼンテーションを聞きながらの朝食会またはモーニングコーヒー

8:30 議長の発言

8:35 遺伝子疾患の出生前非侵襲的診断の開発のための循環栄養膜細胞からの純胎児PDAの標的化:利点と技術的側面

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

Next Generation Sequencing (NGS) of DNA from circulating trophoblastic cells is a rapid and cheaper approach for the direct and non-invasive prenatal diagnosis of aneuploidy and for exploring non-invasively a wide range of genetic disorders. Our team has shown the consistency of circulating trophoblastic cells recovery by using ISET and the interest of using the pure fetal DNA extracted from them for non-invasive prenatal diagnosis (NIPND). We show here that the application of NGS analysis to circulating trophoblastic cells opens new avenues and hopes for non-invasive prenatal diagnosis.

9:05 循環胎児有核細胞(CFNC)の隔離と特性化のためのNanoVelcroマイクロチップ

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

A new non-invasive prenatal diagnostic (NIPD) technology capable of not only monitoring dynamic changes of circulating fetal nucleated cells (CFNCs) but also isolating CFNCs for prenatal genetic testing at early-stage of pregnancy has been developed at UCLA. Results from clinical evaluation of our NanoVelcro CFNCs enumeration and CFNCs genetic testing will be presented, along with potential implications for the impact of this approach on the field of prenatal molecular diagnostics.


母体のリスクを評価するためのバイオマーカー

9:35 非侵襲的生殖診断とスクリーニングにおける標的化プロテオミクス

Zhou YongYong Zhou, Ph.D., Research Scientist, Hood Lab, Institute for Systems Biology

Maternal blood provides a window for real-time monitoring of placental function and fetal health during pregnancy. Mass-spectrometry-based proteomics can measure more than 100 specific blood proteins at sub ug/ml level in a single 2-hour run. Our preliminary data show that concentrations of proteins enriched in the placenta showed gestation-associated changes and the concentration changes on a few of them provide indications 2-4 weeks before preterm labor occurred. These results present new evidence that placental enriched proteins are informative targets in the blood as biomarkers to predict preterm birth and for real-time assessment of placental function.

10:05 ポイントオブケアでの子癇前症の特異的検出

Wendy DavisWendy Davis, CEO, GestVision, Inc.

Diagnosis of preeclampsia still relies on symptoms that are nonspecific for the condition, making diagnosis challenging. Recent advances have led to a highly specific urine test providing physicians with rapid information for determining patient status regarding preeclampsia.

10:35展示会場での休憩、ポスター発表の見学


11:15 パネルディスカッション:出生前分子診断の将来予測:数年後の姿

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


David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President & CSO, Geisinger Health Systems


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


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


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


 

12:15 学会閉幕

* 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。


1日目 | 2日目 | 3日目


プログラムの顧問

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

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

Subhashini ChandrasekharanSubhashini Chandrasekharan, Ph.D., Research Assistant Professor, Institute for Genome Sciences & Policy, Duke University

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


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