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In recent years there have been dramatic changes in the field of prenatal diagnostics, both as a result of new technical capabilities and concerns over the risks and limitations associated with traditional diagnostic approaches.
The transition in favor of array-based cytogenetic assays in place of traditional karyotyping is well underway. For higher risk pregnancies the use of sequence-based testing of cell-free DNA in maternal blood is becoming more common, although evidence of genetic abnormalities must then still be confirmed with more invasive procedures. Research aimed at isolation of nucleated fetal cells from maternal blood could provide better answers with lower risk in the future. Advances in single cell sequencing are being applied to pre-implantation diagnostics and could be particularly powerful when combined with fetal cell isolation from maternal blood. Progress is also being made in the development of biomarkers to assess the risk of both pre-term labor and preeclampsia, which offers the potential of much earlier steps to limit these dangers.
While technical developments will be important, there are also a number of other factors, including regulatory and reimbursement challenges, as well as clinical and genetic counseling perspectives, that need to be understood in order to forecast how this field is likely to develop over the next few years.
PROGRAM ADVISORS:
Arthur L. Beaudet M.D.
Chair, Department of Molecular & Human Genetics
Baylor College of Medicine
Diana W. Bianchi, M.D.
Executive Director, Mother Infant Research Institute, and Professor of Pediatrics, Obstetrics and Gynecology
Tufts University School of Medicine
Joe Leigh Simpson, M.D.
Senior Vice President, Research and Global Programs
March of Dimes Foundation
Ronald J. Wapner, M.D.
Director of Reproductive Genetics and Vice Chair of Research, Department of Obstetrics and Gynecology
Columbia University Medical Center
TOPICS INCLUDE:
Pre-Conference Short Course*
SUNDAY, SEPTEMBER 22 | 2:00 PM – 5:00 PM
Commercialization Boot Camp: Manual for Success in the Molecular Diagnostics Marketplace
This workshop will define the priority checklist for executing a successful strategy and operational plan for commercializing molecular diagnostics. It will examine the process of bringing a product to market based on data driven case histories. Financial resources needed to execute the project plan will be measured in the current climate. Participants will learn key requirements for advancing molecular diagnostics through product development. This course will leverage the instructors’ years of accumulated experience spanning financial, technical and scientific acumen, as well as overcoming roadblocks on the path to commercial success.
Instructor: Harry Glorikian, Managing Director, Strategy, Precision for Medicine
Instructor: Elaine Cheung, Business & Corporate Development, Illumina
* Separate registration required
Day 1 | Day 2 | Download Brochure | Attendee List
Monday, September 23
CURRENT OPTIONS AND CONSIDERATIONS FOR PREGNANCY RISK ASSESSMENT
7:45 am Registration and Morning Coffee
8:50 Chairperson’s Opening Remarks
9:00 Prenatal Genetic Diagnosis: Balancing the Options
Ronald J. Wapner, M.D., Director, Reproductive Genetics; Vice Chair of Research, Department of Obstetrics and Gynecology, Columbia University Medical Center
Two emerging technologies have become available for prenatal diagnosis. One is noninvasive testing. It is over 99% accurate in screening for Down syndrome and, it is slightly less accurate in screening for other common chromosomal Aneuploidies. The other, Chromosomal Microarray Analysis, provides the parents with significantly more genomic information, but it requires an invasive test with a 1/300-1/500 risk of pregnancy loss. Patients should be counseled about the availability of both options, so they can make informed decisions about how to evaluate their pregnancy.
9:30 Medical Decision-Making Models in Prenatal Diagnostics
Kee Chan, Ph.D., Department of Health Sciences, Boston University
This presentation will focus on the medical decision making models used to evaluate the cost and benefits of prenatal testing. Prenatal testing may change due to the lower cost of genome sequencing and the large availability of genomics data compared to a decade ago. Physicians, researchers, and consumers may be challenged with more complex decision-making in assessing predictive risk of prenatal testing for genetic disorders, chronic disease, and late-onset manifestation of disease. Understanding key ethical, legal, social and financial (ELSFI) implications of prenatal testing as well as the medical decision making framework may provide guidance for individuals considering genetic testing.
10:00 Reimbursement Issues for Prenatal Diagnostics: How Do the Payers Look at This Field
Robert C. McDonald, M.D., MBA, President, Aledo Consulting
This conference applies substantial focus on the technological aspect of prenatal testing. Technologically, the field is in a state of rapid evolution. Likewise, the reimbursement of prenatal testing is in a state of rapid evolution. This discussion will review several reimbursement trends regarding laboratory services, in general, molecular diagnostic tests, more specifically, and prenatal diagnostic testing, in particular.
10:30 Coffee Break
11:00 How the Changing Patent Landscape Will Impact the Future of Prenatal Molecular Diagnostics
Tara Rachinsky, Ph.D., Counsel, Intellectual Property, Fox Rothschild LLP
In recent years, the legal landscape regarding intellectual property protection for molecular diagnostics has altered dramatically. The controversy over patent protection for DNA sequences continues. The recent decision by the Supreme Court in Mayo v. Prometheus has called into question the patentability of many diagnostic methods. In the wake of these changes, legal battles are being waged over the ownership of certain prenatal diagnostic technologies. The outcome of these legal controversies will undoubtedly impact the future of prenatal molecular diagnostics.
11:30 How Has the Integration of Non-Invasive Prenatal Testing Changed Current Standard of Care, and What's Next?
Diana W. Bianchi, M.D., Executive Director, Mother Infant Research Institute; Professor of Pediatrics, Obstetrics and Gynecology, Tufts University School of Medicine
An overview of the technical and practical issues that affect integration of noninvasive prenatal testing using maternal plasma sequencing of cell-free DNA will be presented. New aspects of maternal and fetal biology that are being discovered through implementation of the test will be reviewed. Speculation as to what will be the future applications of noninvasive prenatal testing in the immediate future will also be discussed.
12:00 pm Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own
ARRAY-BASED CYTOGENETIC TESTING
1:25 Chairperson’s Remarks
1:30 Array CGH vs. Classical Cytogenetics in Prenatal Diagnostics
Ankita Patel, Ph.D., Department of Molecular and Human Genetics, Baylor College of Medicine
The data presented will compare the array CGH results to classical cytogenetics in about 3500-4000 prenatal cases. The data show that array CGH should be the first line test with classical cytogenetics as an adjunct test to pick up balanced rearrangements. With increasing medical cost and decreasing reimbursements, it is important to provide appropriate and efficient testing. These data would also highlight some of difficult counseling issues with array CGH in prenatal testing, i.e. the interpretation of variants of unknown clinical significance.
2:00 High Density SNP Arrays for Prenatal Cytogenetic Analysis
Stuart Schwartz, Ph.D., FACMG, Strategic Director, Cytogenetics, Laboratory Corporation of America
Cytogenetic diagnostic tools have evolved quickly over the past five years, particularly in the pediatric setting. Hear how a leading expert in Cytogenetics has embraced high density SNP arrays to provide comprehensive, clinically relevant information for prenatal diagnosis. Drawing from a vast case load, Dr. Schwartz will present multiple cases highlighting the relevant data uncovered by these SNP arrays. For optimal utilization of this important new technology, collaboration between laboratory, physicians and counselors is essential.
2:30 Clinical Validation of Prenatal Microarrays in Prospective High-Risk Pregnancies
M. Anwar Iqbal, Ph.D., Director, Cytogenetics and Microarray CGH Lab, Department of Pathology and Laboratory Medicine, University of Rochester and Medical Center
Only a small proportion (~3.3%) of pregnancies with fetal anomalies detected by ultrasound show an abnormal karyotype due to the low resolution of techniques used in classical cytogenetics. Determining clinically significant microdeletions and microduplications across the whole genome in abnormal fetuses may provide genetic etiology. The objective of this study was to determine the efficiency of microarray comparative genomic hybridization (aCGH) in detecting clinically significant imbalances in high risk pregnancies with a normal karyotype.
3:00 Refreshment Break with Exhibit and Poster Viewing
3:45 Prenatal Counseling Issues Regarding CNVs: Clinical Variability and "Incomplete Penetrance"
David Ledbetter, Ph.D., FACMG, Executive Vice President and CSO, Geisinger Health System
Significant clinical variability is associated with all chromosomal disorders, including recently described CNV disorders. To provide accurate prenatal counseling information regarding CNVs, more data is needed on a) the full phenotypic spectrum of CNVs from cohorts with less-biased ascertainment (e.g., prenatally diagnosed cases) and b) the influence of other genetic and environmental factors on clinical variability, such as parental cognitive, behavioral and psychiatric profiles. With improved data from such studies, genetic counseling in the context of de novo CNVs or single gene mutations will become more accurate and allow couples to make informed reproductive decisions.
4:15 Panel Discussion: Sequencing-Based Diagnostics of Cell-Free DNA in Maternal Blood
Moderator:
Subhashini Chandrasekharan, Ph.D., Research Assistant Professor, Institute for Genome Sciences & Policy, Duke University
Dr. Chandrasekharan is the corresponding author on the recent paper "Commercial landscape of noninvasive prenatal testing in the United States".
Panelists:
Sucheta Bhatt, M.D., Director of Genetics, Verinata Health, Inc.
Mathias Ehrich, Ph.D., Vice President of Research & Development, Sequenom, Inc.
Thomas Musci, M.D., Vice President, Clinical and Medical Affairs, Ariosa Diagnostics, Inc.
Zach Demko, Ph.D., Senior Director of Research & Development, Natera, Inc.
Daixing Zhou, Ph.D., CEO, Berry Genomics Co., Ltd.
Questions to be addressed by this panel include:
> Click here to submit a question for this panel.
5:45 Welcome Reception with Exhibit and Poster Viewing
Prenatal Diagnosis