2014 Archived Content


Wednesday, November 5 | 8:30AM-12:15PM

Carrier Screening and Pre-Implantation Diagnostics* 

In addition to rapid developments in the area of prenatal molecular diagnostics, a closely related segment where there are also significant changes underway is that of carrier screening and pre-implantation diagnostics (PGD). Carrier screening, most often carried out prior to conception, helps assess the risk of passing on specific mutations to a child, while PGD can be relevant as part of in vitro fertilization. In both of these fields, historically, targeted testing has been done for a limited range of genes of interest. As the cost of next-gen sequencing comes down, how does that change these tests and what are the pros and cons of generating more extensive results? What other factors are likely to have significant impact in these two areas of reproductive testing?

8:00 Registration 

8:45 Chair’s Opening Remarks 

8:55 Next Generation DNA Sequencing-Based Tests for Reproductive Medicine  

Mark Umbarger, Ph.D., Director of Research and Development, Good Start Genetics 

A chief goal of genetic testing conducted in reproductive settings is to maximize the probability of healthy live births. Two complementary approaches that we have developed to accomplish this goal will be presented. First, our implementation of and experience with a next-generation DNA sequencing (NGS)-based carrier screening test that we have been running in a pre-conception setting for more than 2 years will be described. A streamlined and cost-effective NGS-based strategy that we have developed to screen for euploid in vitro fertilized embryos, thereby enabling the transfer of embryos with a significantly higher probability of yielding a successful live birth (preimplantation genetic screening, or PGS) will also be presented. Together these two new approaches move us towards the goal of improving pregnancy outcomes.

9:25 Expanded Carrier Screening - Clinical Experience and Practical Implementation  

Gabriel A. Lazarin, MS, CGC, Director of Genetic Counselors, Counsyl 

Expanded carrier screening is a growing practice, accounting for approximately 20% of all carrier screens. This session will review clinical data and the considerations the data raise. Strategies for implementation, including practical obstacles and genetic counseling, will also be discussed.

9:55 Whole-Genome Amplification for In Vitro Fertilization  

Sunney Xie, Ph.D., Department of Chemistry, Harvard University 

Single-cell genome analyses of human oocytes are important for preimplantation genomic screening in in vitro fertilization. However, it has been hampered by the non-uniformity of single-cell whole-genome amplification. We carried out genome analyses of single human oocytes using multiple annealing and looping-based amplification cycle (MALBAC), a uniform whole genome amplification method. By sequencing the first and second polar bodies or one of the many cells in the blastocyst stage, the MALBAC-based preimplantation genomic screening enables accurate and cost-effective selection of fertilized eggs that are free from chromosome abnormality as well as point mutations associated with Mendelian diseases from either parent.

10:25 Refreshment Break and Networking Discussion 

10:45 Universal Approach to PGD for Single Gene and Chromosomal Disorders with and without HLA Typing  

Svetlana Rechitsky, Ph.D., Laboratory Director, Reproductive Genetics Institute 

PGD can be performed on the same embryo biopsy for a single gene disorder, for HLA typing and also for 24-chromosome aneuploidy testing. This is possible given availability of whole genome amplification product (WGA), obtained at the first step of the aneuploidy testing protocol. Compared to outcomes in patients of comparable maternal age, testing concomitantly for the above has significantly improved reproductive outcome, resulting in an increased pregnancy rate and a three-fold reduction in spontaneous abortions.

11:15 Experience and Results with ultraPGD based on Biopsy of Day Five Embryos  

Mark Hughes, Ph.D., Laboratory Founder, Genesis Genetics 

Single cells can now be data-mined for tens of thousands of STRs and SNPs, all simultaneously and overnight, leading to the next generation of preimplantation genetic testing. Some 90,000 human embryos have been examined for single-gene mutations and 24-chromosome copy number variations, translocations, and complex rearrangements. Haplomapping allows for evaluation of recombination loci in the early developing embryo, or any single haploid or diploid cell. Next Generation Sequencing of single cells confirms and expands the data-sets and provides useful clinical information for improved patient care.

11:45 Panel Discussion with All Speakers

12:15 End of Short Course

* separate registration required for short courses


Tuesday, November 4
12:00-5:00pm  Afternoon Workshop (5 hr)

Commercialization Boot Camp: Manual for Success in Diagnostics**


  • Harry Glorikian, Healthcare Consultant
  • Elaine Cheung, Business & Corporate Development, Illumina
  • Sandra Statz, Vice President, Clinical, Quality & Regulatory, Exact Sciences Corporation
  • Gary Palmer, M.D., J.D., MBA, MPH, Senior Vice President, Medical Affairs, Foundation Medicine, Inc.
  • Sara Chenault, Director, Patient Advocacy, Genomic Health
  • Laura Deming, Medical Device & Life Science Product Development Executive, LLD Consulting

** separate registration required for workshops

Japan-Flag Korea-Flag China-Simplified-Flag China-Traditional-Flag  


Register Now

Corporate Sponsors




View Media Partners