Third Annual Advances in Prenatal Molecular Diagnostics
- 제3회 출생전 분자 진단의 최신 동향 컨퍼런스 -
2015년 11월 16 - 18일
미국 매사추세츠주 보스턴, Omni Parker House Hotel

모체혈로부터 채취한 무세포 DNA의 차세대 시퀀싱에 의한 NIPT의 수용과 이용 가능성이 증가하면서 출생전 검사에 큰 영향을 미치고 있습니다. 그 결과 중 하나로 침습적 검사를 선택하는 여성의 수가 확실히 감소했으며, 어레이에 의한 염색체 분석, 어떤 경우에는 샘플 분석 시퀀싱이 대체되고 있습니다. 비침습적 검사는 대형 검사 서비스 프로바이더 사이에서 큰 차이가 발생하고 있습니다. 고위험임신 이외에도 NIPT 도입이 확대되고 검사에 의해 보고되는 유전자 조건의 범위가 넓어지고 있습니다. 그러나 이와 같은 변화에는 희생이 강요됩니다. 모체혈로부터의 태아 세포 격리에 의한 검사는 무세포 DNA 검사를 대신하는 매력적인 방법이나, 이 방법의 상품화는 많은 문제에 직면하고 있습니다. 이와 같은 문제의 검증과 최신 동향 비교 및 다양한 어프로치의 도입 등에 의해 이 분야가 향하는 방향성에 대해 논의하며, 연구자, 검사 프로바이더, 임상의 및 진료소가 검토해야 할 문제를 심층 분석합니다.

아젠다


첫째날 | 둘째날 | 셋째날


11월 16일(월)

8:00 등록 및 모닝커피


침습적으로 입수한 샘플

9:00 의장 개회사

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


9:10 침습적 출생전 진단의 미래

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 염색체 구조 재설정에는 임상적 해석을 위한 뉴클레오티드 분해가 필요

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 진단용 엑솜 시퀀싱을 위한 생식 유전자 카운셀링 문제

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 휴식시간

11:15 지식 전환:신규 출생전 분자 유전자 검사의 임상 도입을 촉진하기 위한 혁신적 교육 전략

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 유전자 카운셀링 문제:환자화 함께하는 출생전 진단 경로

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 런천 프레젠테이션:비침습적 출생전 스크리닝(NIPS)을 위한 Seraseq™ 이수성 표준물질

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 휴식시간


비침습적 출생전 진단(NIPD)

1:45 의장 발언

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


1:50 출생전 진단의 경제 분석

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 NIPT를 고위험뿐만 아니라 모든 임신으로 확대하는 것에 대한 찬반양론

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 대규모 통합 헬스케어 시스템의 무세포 태아 DNA 스크리닝

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 전시회장 휴식시간, 포스터 발표 관람

4:00 NIPT의 도입:기술적 발전 사례 연구

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 스크리닝 모집단의 의료 경제학

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



5:00 IONA®검사(CE-IVD)의 임상 실적

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 비침습적 출생전 검사의 정도 확립과 밸리데이션

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 전시회장 환영 리셉션, 포스터 발표 관람

6:30 첫째날 종료


첫째날 | 둘째날 | 셋째날


11월 17일(화)

7:45 등록


8:00 브레이크아웃 디스커션

논의 토픽: 

  • 침습적으로 입수한 샘플의 마이크로어레이와 시퀀스 분석의 베스트 프랙티스
  • 출생전 검사의 경제학
  • 출생전 진단에 관한 윤리 및 유전자 카운셀링 문제
  • NIPT에 의한 태아 분획(Fetal Fraction) 결정의 가치
  • 저위험임신 대상 NIPT 시행에 관한 찬반양론
  • NIPT 해석을 위한 바이오인포매틱스
  • 단일유전자질환 검사
  • 미세결실, 삽입, 카피수의 다양성 및 전좌 평가
  • 소량 태아 세포 샘플의 전게놈증폭 문제
  • 태아 세포 NIPD의 상품화를 위한 문제와 전망
  • 임신 중독증 및 조기 분만의 리스크를 평가하기 위한 바이오마커


비침습적 출생전 진단(NIPD, 계속)

8:55 의장 발언

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


9:00 단일유전자질환의 비침습적 출생전 진단 분야에서 분자 진단의 발전:현재까지의 실적과 향후 전망

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 대규모 집단을 이용한 단일유전자질환의 출생전 검사:커플 스크리닝 사례

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 이수성을 초월:뇌질환의 원인이 되는 카피수 다양성(CNV)의 출생전 탐지 및 해석

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 전시회장 휴식시간, 포스터 발표 관람


11:10 NIPT 벤더 패널 디스커션

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 런천 프레젠테이션 또는 개별 점심식사


모체혈로부터 채취한 태아 세포의 유망성과 전망

1:45 의장 발언

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


1:50 TRIC:태반 및 태아 게놈을 구축하기 위한 새로운 경지

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 비침습적 출생전 진단용 미세가공(Micro-Fabricated) MEMS 기기를 이용하기 위한 태아 세포 포획

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 무손상 태아 세포의 회복 및 분석:DEPArray를 이용한 비침습적 출생전 진단

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


3:20 전시회장 휴식시간, 포스터 발표 관람

4:00 비침습적 출생전 유전자 검사를 위한 무손상 순환태아세포(CFC)의 농축과 유전자 분석

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 셀 기반 비침습적 출생전 진단 I:세포 회복

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 셀 기반 비침습적 출생전 진단 II:세포 분석

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 태아유핵적혈구 격리 및 분석의 진척

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 둘째날 종료


첫째날 | 둘째날 | 셋째날


11월 18일(수)


모체혈로부터 채취한 태아 세포의 유망성과 전망(계속)

8:00 브렉퍼스트 프레젠테이션 또는 모닝커피

8:30 의장 발언

8:35 유전자 질환의 출생전 비침습적 진단 개발을 위한 순환 영양막 세포로부터의 순태아 PDA 표적화:이점과 기술적 측면

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 순환 태아유핵세포(CFNC)의 격리와 특성화를 위한 NanoVelcro 마이크로칩

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.


모체의 리스크를 평가하기 위한 바이오마커

9:35 비침습적 생식 진단과 스크리닝의 표적화 프로테오믹스

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 Point-of-Care에서 임신 중독증의 특이적 탐지

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 전시회장 휴식시간, 포스터 발표 관람


11:15 패널 디스커션:출생전 분자 진단 예측:수년 후 전망

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 컨퍼런스 폐막

* 주최측 사정에 따라 사전 예고없이 프로그램이 변경될 수 있습니다.


첫째날 | 둘째날 | 셋째날


프로그램 고문

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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