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Tuesday 13 May
8:15 Morning Coffee
8:45 Chair’s Remarks
Brigitte Faas, Ph.D., Department of Human Genetics, Radboud University Nijmegen Medical Center (Netherlands)
8:50 Non-Invasive Detection of Chromosomal CNV and Single Gene Disease
Ya Gao, Ph.D., Senior Application Specialist, NIPT, BGI
Cell-free DNA based prenatal testing has been shown with close-to-diagnosis sensitivity and specificity in detecting fetal T21, T18, and T13. Future development of this technology focuses on detection of other chromosomal aneuploidy, and more importantly submicrosocopic abnormalities such as small copy number variants and single gene mutations. We evaluate the possibility of testing CNV in samples with known karyotypes by NIPT using FCAPS analysis and successfully identified the deletion and duplication on difference chromosomes. We also developed a haplotype construction strategy to non-invasively identify the fetal risk of a single gene disease, which has the clinical potential for non-invasive prenatal diagnosis of single gene disease.
9:05 Contingent cfDNA Screening with Additional Serum Markers - A Highly Cost-Effective Strategy
Howard Cuckle, Ph.D., Department of OB/GYN, Columbia University Medical Center (USA)
Routine screening for Down syndrome using maternal plasma cfDNA alone is too expensive for public health programs. In contrast, the contingent use of traditional protocols such as the Combined test to select 10-20% women with the highest risk for cfDNA is cost-effective. Enhancing the Combined test with the addition of serum PlGF and AFP yields contingent cfDNA detection rates close to routine cfDNA. This approach also facilitates early screening for adverse pregnancy outcomes like pre-eclampsia.
9:35 Development of NIPD for Detection of Single-Gene Disorders within an NHS Regional Genetics Service Laboratory
Fiona McKay, Principal Clinical Scientist, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust (United Kingdom)
It is now possible to base the diagnosis of an increasing numbers of monogenic disorders on the analysis of cfDNA in maternal plasma. Our laboratory has developed significant experience in this area having implemented fetal sex determination as well as leading the RAPID project - funded to develop standards required for implementation into NHS practice. Service and research teams work closely to facilitate rapid translation into clinical practice, and we now offer a UKGTN approved service for fetal sex determination, achondroplasia and thanatophoric dysplasia. Here we discuss the development of our NIPD service and the introduction of next generation DNA sequencing methodologies to improve workflows, shorten turnaround times and increase the breadth of testing for monogenic disorders.
10:05 Epigenetic Strategies for NIPD: The Power of the Fetal Methylome
Elisavet A. Papageorgiou, Ph.D., CSO, NIPD Genetics, Inc. (Cyprus)
The evaluation of identified DMRs (Differentially Methylated Regions) will be presented, with the aim of developing NIPD for fetal chromosomal aneuploidies. A comparison analysis will also be reported describing the performance of different assays, indicating the potential use of different methylation-based technologies in retrieving the fetal methylome towards NIPD.
10:35 Coffee Break in the Exhibit Hall with Poster Viewing
11:15 Panel Discussion: Sequencing-Based Diagnostics of Cell-Free DNA in Maternal Blood
Moderator:
Phillips Kuhl, President, Cambridge Healthtech Institute
Panelists:
Thomas Musci, M.D., CMO, Ariosa Diagnostics, Inc.
Michael Lutz, Ph.D., CEO, LifeCodexx
Solomon Moshkevich, Vice President, Marketing and Medical Education, Natera Inc.
George Koumbaris, Ph.D., Head, Research and Development, NIPD Genetics Ltd.
Mathias Ehrich, Ph.D. Vice President, Research & Development, Sequenom, Inc.
Vance Vanier, M.D., Vice President, Global Commercial Operations, Verinata Health, Inc.
In the field of prenatal molecular diagnostics, no technology has had more extensive and rapid impact than sequencing of cell-free DNA from maternal blood. A number of companies have commercialized this approach, which provides a non-invasive method for identifying cases of aneuploidy with very low false-positives and false negatives. There are key differences between some of the techniques being implemented, differences in business strategies and a range of issues for which opinions and options vary. This panel provides a unique opportunity to hear from six different commercial vendors speak briefly about the approach their company has taken, and then respond to questions.
Some of the issues to be covered will include:
- Should NIPT be limited to testing for aneuploidies, or should it be extended to test for smaller genetic deletions and insertions?
- NIPT is being made available for higher risk pregnancies, but should it also be offered to those at lower risk?
- Are there significant differences in the rate of “no result or call” as a result of low fetal fraction between different providers?
- The rise of NIPT has reduced the rate of invasive testing. What are the risks associated with this trend?
- What technological changes are likely to become available to enhance or extend NIPT testing soon?
- What approaches can be used to reduce the cost of NIPT and increase access?
- If more detailed analysis becomes available from NIPT, what are the implications for genetic counseling?
Additional questions can be submitted, and may be posed by the panel moderator.
Please click here to suggest additional questions for this panel.
13:00 Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own
14:30 Chair’s Remarks
Patrizia Paterlini-Brechot, M.D., Ph.D., Professor, Cell Biology & Oncology, University Paris Descartes (France)
14:35 Analysis of Trophoblastic Cells for Non-Invasive Prenatal Diagnosis of Genetic Diseases
Patrizia Paterlini-Brechot, M.D., Ph.D., Professor, Cell Biology & Oncology, University Paris Descartes (France)
Trophoblastic cells can be isolated non-invasively from blood and from the cervix at very early terms of pregnancy. Their fetal DNA is not mixed with maternal DNA and can be efficiently used for prenatal genetic diagnosis. The use of fetal cells allows the development of a reliable non-invasive alternative to the current invasive methods for prenatal diagnosis of genetic disorders.
15:05 Isolation and Verification of Circulating 4B9-Positive Fetal Cells from Maternal Blood
Leonard Kellner, President, KellBenx, Inc. (USA)
Identification of circulating fetal cells in maternal blood would enable noninvasive prenatal analysis of the entire fetal genome. The discovery and characterization of a novel fetal erythroid cell marker, 4B9, will be described. Results demonstrating frequency, isolation and verification of 4B9 positive fetal cells from maternal blood will be presented.
15:35 Isolation and Characterization of Individual Circulating Fetal Cells for Non-Invasive Prenatal Diagnosis
Nicolò Manaresi, Ph.D., Chief Technology Officer, Silicon Biosystems spa (Italy)
We present DEPArray™, a fluorescent image-based sorting platform and its potential for the isolation with single-cell resolution of fetal cells enriched from maternal blood samples. In combination with Ampli1™ Whole Genome Amplification, we show that it is possible to confirm fetal origin by DNA fingerprinting, carry out array Comparative Genomic Hybridization as well as analysis of point mutations. The above capabilities can be the cornerstone for enabling 1) the set-up and validation of a dependable enrichment and staining method and 2) further bring this workflow into a routine clinical practice.
16:05 Refreshment Break in the Exhibit Hall with Poster Viewing
17:00 Panel Discussion: The Future Landscape of Prenatal Molecular Diagnostics in Europe
Moderator:
Brigitte Faas, Ph.D., Department of Human Genetics, Radboud University Nijmegen Medical Center (Netherlands)
Panelists:
Michael Hadjidaniel, Ph.D., Acting Head of the Translational Genetics Team, Cyprus Institute of Neurology and Genetics (Cyprus)
Patrizia Paterlini-Brechot, M.D., Ph.D., Professor, Cell Biology & Oncology, University Paris Descartes (France)
Marta Rodríguez de Alba, Ph.D., Genetics Department, Fundacion Jimenez Diaz (Spain)
18:00 End of Conference
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