Third Annual Advances in Prenatal Molecular Diagnostics
- 第3屆年度學會:產前分子診斷的最新動向 -
2015年11月16 - 18日
美國,馬薩諸塞州,波士頓,Omni Parker House Hotel

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。其中之一,由於選擇侵入性檢查的女性人數確實減少,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。關於非侵入性檢查,在大型檢查服務供應商之間產生巨大差異。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,做為取代無細胞DNA檢查來說具有吸引力,但是這個手法的商品化上,尚存有許多課題。透過這些問題的檢證與最新動向的比較、以及各種方式的導入等,就該領域所朝向的方向性再度進行活絡討論,並深入探討研究人員、檢查供應商、臨床醫師、以及診所等應討論的課題。

議程


第1天 | 第2天 | 第3天


11月16日(一)

8:00 報到登記與晨間咖啡


侵入性獲得的樣本

9:00 議長開會致詞

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


9:10 何謂侵入性產前診斷的未來

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 染色體結構的重新設定需要對於臨床解釋的核甘酸分解

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 診斷用外顯子定序的生殖遺傳諮詢課題

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 休息時間

11:15 知識發展:促進新產前基因檢查的臨床導入的創新教育策略

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 遺傳諮詢課題:貼近病患的產前診斷之路

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 午間簡報發表:非侵入性產前篩檢(NIPS)的Seraseq™非整倍體標準物質

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 休息時間


非侵入性產前診斷(NIPD)

1:45 議長評論

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


1:50 產前診斷經濟分析

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不僅是高風險,而是擴大至所有懷孕的贊成與反對

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 大型綜合照護系統的無細胞胎兒DNA篩檢

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 展示會大廳休息與論文海報發表參觀

4:00 NIPT的導入:技術發展的個案研究

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 篩檢母集團的醫療經濟學

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



5:00 IONA®檢查(CE-IVD)的臨床實績

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 非侵入性產前檢查的精度確立與驗證

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 展示會大廳歡迎酒會與論文海報發表參觀

6:30 第1天結束


第1天 | 第2天 | 第3天


11月17日(二)

7:45 報到登記


8:00 專題會議討論

討論主題: 

  • 侵入性獲得樣本的微陣列與序列分析的最佳實務
  • 產前檢查經濟學
  • 產前診斷相關倫理及遺傳諮詢問題
  • NIPT的胎兒劃分決定之價值
  • 以低風險懷孕為對象之NIPT實施的贊成與反對
  • NIPT解釋的生物資訊學
  • 單一基因疾病的檢查
  • 微小缺失、置入、複製數變異、以及轉位的評價
  • 少量胎兒細胞樣本的全基因複製的課題
  • 胎兒細胞NIPD商品化的課題與展望
  • 評價妊娠毒血症及早期陣痛風險的生物標記


非侵入性產前診斷(NIPD)(接續)

8:55 議長評論

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


9:00 單一基因疾病的非侵入性產前診斷領域的分子診斷之發展:過去實績與未來展望

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 利用大規模集團的單一基因疾病產前檢查:情侶篩檢個案

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 超越非整倍體:成為腦部疾病原因的複製數變異(CNV)之產前檢測與解釋

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 展示會大廳休息與論文海報發表參觀


11:10 NIPT廠商座談會

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 午餐簡報或各自用餐


來自母體血液的胎兒細胞之可能性與展望

1:45 議長評論

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


1:50 TRIC:建構胎盤及胎兒基因的新境地

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 針對非侵入性產前診斷的利用細微加工MEMS裝置的胎兒細胞擷取

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 無傷胎兒細胞的恢復與分析:利用DEPArray的非侵入性產前診斷

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


3:20 展示會大廳休息與論文海報發表參觀

4:00 針對非侵入性產前基因檢查的無傷循環胎兒細胞(CFC)的濃縮與基因分析

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 細胞型非侵入性產前診斷I:細胞恢復

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 細胞型非侵入性產前診斷II:細胞分析

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 胎兒有核紅血球細胞的隔離與分析的進展

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 第2天結束


第1天 | 第2天 | 第3天


11月18日(三)


來自母體血液的胎兒細胞之可能性與展望(接續)

8:00 早餐簡報或晨間咖啡

8:30 議長評論

8:35 針對基因疾病產前非侵入性診斷開發的來自循環營養細胞的純胎兒PDA的標的化:優點與技術面

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 針對循環胎兒有核細胞(CFNC)的隔離與特性化的NanoVelcro微晶片

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.


評價母體風險的生物標記

9:35 非侵入性生殖診斷與篩檢的標的化蛋白質體學

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 重點照護的妊娠毒血症變異檢測

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 展示會大廳休息與論文海報發表參觀


11:15 座談會:產前分子診斷的未來預測:下一個數年

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 學會閉幕

* 活動內容有可能不事先告知作更動及調整。


第1天 | 第2天 | 第3天


議程顧問

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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