FINAL AGENDA NOW AVAILABLE

The growing acceptance and availability of NIPT, based on next-gen sequencing of cell-free DNA from maternal blood, is having a dramatic impact on prenatal testing.  One result has been the steady decline in the number of women choosing invasive testing, with growing replacement of karyotyping by arrays or in some cases sequencing for analysis of these samples.  For non-invasive testing there has been increased differentiation among the leading test service providers.  There has been a push to expand NIPT use beyond higher-risk pregnancies, as well as extending the range of genetic conditions reported from the tests, but such changes come at a price.  Testing based on isolation of fetal cells from maternal blood would provide an attractive alternative to testing of cell-free DNA, but the commercialization of this approach has faced a range of challenges.  Updated comparisons and examination of these issues, and the implementation of these different approaches, will again make for lively discussion and insight into where this field is headed and ways for researchers, test providers, clinicians and clinics to take these developments into consideration.

Final Agenda


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MONDAY, NOVEMBER 16

8:00 am Registration and Morning Coffee


INVASIVELY-OBTAINED SAMPLES

9:00 Chairperson’s Opening Remarks

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


9:10 What is the Future for Invasive Prenatal Diagnostics?

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 Chromosomal Structural Rearrangements Require Nucleotide Resolution for Clinical Interpretation

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 Challenges with Reproductive Genetic Counseling for Diagnostic Exome Sequencing

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 Coffee Break

11:15 Knowledge Translation: Innovative Educational Strategies to Facilitate the Clinical Implementation of New Prenatal Molecular Genetic Testing

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 Challenges of Genetic Counseling: Traveling the Prenatal Diagnosis Road with our Patients

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 pm Luncheon Presentation: Seraseq™ Aneuploidy Reference Materials for Non-Invasive Prenatal Screening (NIPS)

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 Session Break


NON-INVASIVE PRENATAL DIAGNOSTICS (NIPD)

1:45 Chairperson’s Remarks

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


1:50 Economic Analysis of Prenatal Diagnosis

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 The Pros and Cons of Extending NIPT for All Pregnancies, Not Just Those at Higher Risk

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 Cell-Free Fetal DNA Screening in a Large Integrated Health Care System

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 Refreshment Break in the Exhibit Hall with Poster Viewing

4:00 Implementation of NIPT: A Case Study of Technology Evolution

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 Healthcare Economics in a General Screening Population

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



5:00 Clinical Performance of the IONA® Test (CE-IVD)

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 Development and Validation of the Veracity Non-Invasive Prenatal Test

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 Welcome Reception in the Exhibit Hall with Poster Viewing

6:30 Close of Day


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TUESDAY, NOVEMBER 17

7:45 am Registration


8:00 Breakout Discussions with Continental Breakfast

Topics Include:

  • Best Practices for Microarray and Sequence Analysis of Invasively-Obtained Samples
  • The Economics of Prenatal Testing
  • Ethical and Genetic Counseling Issues for Prenatal Diagnostics
  • The Value of Determining Fetal Fraction with NIPT
  • Pros and Cons of Offering NIPT for Lower-Risk Pregnancies
  • Bioinformatics for NIPT Interpretation
  • Testing for Single-Gene Disorders
  • Evaluation of Microdeletions, Insertions, Copy-Number Variations and Translocations
  • Challenges of Whole Genome Amplification for Small Samples of Fetal Cells
  • Challenges and Prospects for Commercialization of Fetal Cell NIPD
  • Biomarkers for Assessing the Risk of Preeclampsia and Pre-Term Labor
 

NON-INVASIVE PRENATAL DIAGNOSTICS (NIPD) (Cont.)

8:55 Chairperson’s Remarks

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


9:00 Advancement of Molecular Diagnostics in the Field of Non-Invasive Prenatal Diagnosis of Single Gene Disorders: Present Experiences and Future Developments

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 Prenatal Testing for Single Gene Disorders using Large Panels: A Case for Couple Screening

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 Beyond Aneuploidy: Prenatal Detection and Interpretation of Copy Number Variants (CNVs) That Cause Brain Disorders

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 Coffee Break in the Exhibit Hall with Poster Viewing


11:10 NIPT Vendors Panel Discussion

Moderator: Phillips Kuhl, President, Cambridge Healthtech Institute

Panelists:

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


Geoffrey Henno, NIPT Market Development Manager, EMEA


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 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own


THE PROMISE AND PROSPECTS FOR FETAL CELLS FROM MATERNAL BLOOD

1:45 Chairperson’s Remarks

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


1:50 TRIC: A New Window into the Developing Placenta and Fetal Genome

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 Fetal Cell Capture for Using Micro-Fabricated MEMS Device for Non-Invasive Prenatal Diagnostics

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 Recovery and Analysis of Intact Fetal Cells: Non-Invasive Prenatal Diagnosis using the DEPArray

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


3:20 Refreshment Break in the Exhibit Hall with Poster Viewing

4:00 Enrichment and Genetic Analysis of Intact Circulating Fetal Cells (CFC) for Non-Invasive Prenatal Genetic Testing

David DengDavid 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 Cell-Based Noninvasive Prenatal Diagnosis I: Recovery of Cells

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 Cell-Based Noninvasive Prenatal Diagnosis II: Analysis of Cells

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 Progress in Isolation and Analysis of Fetal Nucleated Red Blood Cells

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 Close of Day


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WEDNESDAY, NOVEMBER 18


THE PROMISE AND PROSPECTS FOR FETAL CELLS FROM MATERNAL BLOOD (Cont.)

8:00 am Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee

8:30 Chairperson’s Remarks

8:35 Targeting Pure Fetal DNA from Circulating Trophoblastic Cells for the Development of Prenatal Non-Invasive Diagnostics of Genetic Disorders: Advantages and Technical Aspects

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 NanoVelcro Microchips for Isolation and Characterization of Circulating Fetal Nucleated Cells (CFNCs)

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.


BIOMARKERS FOR ASSESSING RISKS FOR MATERNAL HEALTH

9:35 Targeted Proteomics in Non-Invasive Reproductive Diagnosis and Screening

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 Specific Detection of Preeclampsia at the Point-of-Care

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 Coffee Break in the Exhibit Hall with Poster Viewing


11:15 Panel Discussion: Predicting the Landscape for Prenatal Molecular Diagnostics: The Next Few Years

arthur_beaudetArthur L. 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, 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 pm Close of Conference


Day 1 | Day 2 | Day 3 | Download Brochure  | Speaker Biographies

Program Advisors

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

David LedbetterCamera Icon PNDXDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President and CSO, Geisinger Health System

Joe_SimpsoCamera Icon PNDXJoe 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_WapnerCamera Icon PNDXRonald J. Wapner, M.D., Director, Reproductive Genetics & Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center


For more details on the conference, please contact:

Phillips Kuhl
President
Cambridge Healthtech Institute
Phone: (+1) 781-972-5410
Email: pkuhl@healthtech.com

For partnering and sponsorship information, please contact:

Ilana Quigley
Business Development Manager
Cambridge Healthtech Institute
Phone: (+1) 781-972-5457
Email: iquigley@healthtech.com

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