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Archived Content


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Monday, September 23


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



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.

Affymetrix2:00 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


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".


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:

  • What is the current estimated penetration of high risk pregnancy cases in the U.S. and possible trends over the next few years?
  • What are expected shifts in current guidelines and recommendations for NIPT
  • What are the arguments for and against offering NIPT for lower risk pregnancies?
  • What are estimates for false positive and false negative rates for current tests?
  • What are the limitation of the current NIPD technology and what are areas for improvement?
  • How does the technical approach of Sequenom and Verinata compare with the targeted sequencing approaches taken by Ariosa Diagnostics and Natera?
  • Are the Intellectual property issues different between Sequenom and Verinata compared with Ariosa Diagnostics and Natera?
  • What is the potential for applications beyond trisomy 13, 18, 21 and sex chromosome aneuploidies?
  • What are the recent trends in expansion of reimbursement coverage?
  • What are the trends for NIPD availability internationally?
  • What are the biggest barriers to clinical adoption?
  • What are the biggest barriers to patient access?
  • What, if any, are the expected shifts in regulation of NIPT, and what is their potential impact on test development/availability going forward?

> Click here to submit a question for this panel. 

5:45 Welcome Reception with Exhibit and Poster Viewing

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