2015 Archived Content

Rapidly evolving technologies are transforming the way reproductive genetic diagnostics and screening are performed, but the differences, limitations, and benefits of these new technologies remain unclear to some. Cambridge Healthtech Institute’s Inaugural Reproductive Genetic Diagnostics conference aims to examine the latest technologies, including next-generation sequencing (NGS) and quantitative PCR, and their benefits and applications in carrier screening, preimplantation diagnostics, and product of conception (POC) testing.

As these technologies develop and become widespread, we must understand their capabilities, where each technology is best applied, and be sure that they have been analytically and clinically validated. Furthermore, as the technology outpaces practices, we must take a critical eye to the ethical implications of the applications of these technologies, including the regions of the genome that should be sequenced and the types and amount of sequence variation that is necessary for diagnosis. Join this event with your colleagues to meet with clinicians, researchers, developers, and key thought leaders and to examine these topics.

Final Agenda

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12:30 pm Registration

2:00 Chairperson’s Remarks

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

2:05 Keynote Presentation: Current and Expanding Indications for Preimplantation Genetic Diagnosis (PGD)

Joe_SimpsoJoe Leigh Simpson, M.D., President for Research and Global Programs, March of Dimes Foundation

Where does PGD fit within the broader spectrum of prenatal genetic diagnosis? Sometimes either technology could be chosen, but in other circumstances PGD is uniquely appropriate. As desire increases to limit multiple gestations in ART, PGD to exclude aneuploidy embryos and verify normalcy for euploid embryos will become progressively applicable.

2:35 Next-Generation Sequencing: Its Role in Reproductive Medicine

Brynn LevyBrynn Levy, Professor, Pathology & Cell Biology at CUMC; Director, Clinical Cytogenetics Laboratory; Co-Director, Division of Personalized Genomic Medicine, College of Physicians and Surgeons, Columbia University Medical Center, and the New York Presbyterian Hospital

The introduction of microarrays into the clinical arena has shifted the way we look at chromosomes to a genomics-based view, offering greater resolution and new diagnostic categories such as UPD. NGS has rapidly become a part of the clinical testing menu, especially in pediatrics. However, its clinical utility in reproductive medicine remains an active area of investigation. This talk will focus on the benefits of the newer cytogenomic technologies that are being utilized for diagnostics in both the preimplantation and fetal stages of development.

3:05 CCS Without WGA

Nathan TreffNathan Treff, Director, Molecular Biology Research, Reproductive Medicine Associates of New Jersey; Associate Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers-Robert Wood Johnson Medical School; Adjunct Faculty Member, Department of Genetics, Rutgers-The State University of New Jersey

It is well-established that WGA introduces artifacts when applied to human embryo biopsies for comprehensive chromosome screening (CCS). This presentation will describe an alternative strategy involving targeted multiplex qPCR which has undergone the most rigorous validation of any CCS method currently available. Comparison with WGA-based methods will also be presented demonstrating superiority in both preclinical accuracy and in the ability to combine single gene disorders and microdeletions and duplications with CCS.

3:35 Refreshment Break in the Exhibit Hall with Poster Viewing

Podcast4:15 Concurrent PGD for Single Gene Disorders and Aneuploidy on a Single Trophectoderm Biopsy

Rebekah S. Zimmerman,Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence (FEC)

Many methods of comprehensive chromosome screening (CCS) involve whole genome amplification (WGA), making it difficult to obtain reliable PGD data for a single gene disorder (SGD) in parallel from a single biopsy. This study presents validation and clinical experience with an alternative approach involving multiplex qPCR.

4:45 Live Birth of Two Healthy Babies with Monogenic Diseases and Chromosome Abnormality Simultaneously Avoided by MALBAC-Based Combined PGD and PGS

Xiaoliang Sunney XieXiaoliang Sunney Xie, Ph.D., Mallinckrodt Professor, Chemistry and Chemical Biology, Harvard University

Preimplantation genetic diagnosis (PGD) and preimplantation genomic screening (PGS) help patients to select embryos without monogenic disorders or chromosome abnormalities. Our MALBAC work has proved that a normal embryo can be identified and selected by one-step genome sequencing to eliminate both chromosomal abnormality and point mutations causing monogenic diseases. Furthermore, we report here the first successful MALBAC babies using an improved method with significantly reduced false positives and false negatives.

5:15 Analytical Validation of a Novel NGS-Based Preimplantation Genetic Screening Technology

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

We have developed and implemented a novel NGS-based PGS technology that utilizes a single PCR reaction to amplify repetitive elements on each chromosome while simultaneously attaching sequencing adapters and sample-specific barcodes for multiplexed NGS. In this talk, we will compare and contrast the workflow of our approach to that of other NGS-based PGS approaches, and will outline the results of an analytical validation study that evaluated the accuracy of our approach relative to array comparative genomic hybridization (aCGH).

5:45 Welcome Reception in the Exhibit Hall with Poster Viewing

6:45 Close of Day

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7:30 am Morning Coffee


7:55 Chairperson’s Remarks

Peter Benn, Professor, Department of Genetics and Genome Sciences, University of Connecticut Health Center

8:00 Expanded Carrier Screening for Monogenic Disorders

Peter BennPeter Benn, Professor, Department of Genetics and Genome Sciences, University of Connecticut Health Center

Highly accurate, low-cost methods for the identification of mutations have facilitated identification of carriers of monogenic disorders. This presentation will review current recommendations, discuss the advantages of expanded carrier screening, and consider future prospects.

8:30 Oocyte Mitochondrial Function and Testing: Implications for Assisted Reproduction

Emre SeliEmre Seli, M.D., Yale School of Medicine

Mitochondrial function has been associated with oocyte function, with implications for reproductive aging. As such, testing of mitochondrial DNA content or function provides a potential target for assessment of viability of euploid embryos.

9:00 Preventing the Transmission of Mitochondrial Diseases through Germline Genome Editing

Alejandro OcampoAlejandro Ocampo, Ph.D., Research Associate, Gene Expression Laboratory – Belmonte, Salk Institute for Biological Studies

We have recently developed a novel strategy towards preventing the germline transmission of mitochondrial diseases through the selective elimination of mutated mtDNA using mitochondria targeted restriction endonucleases or TALENs. We are now evaluating the human safety and efficacy of this technology to prevent the transmission of human mitochondrial diseases.

9:30 Recovery and Analysis of Single (Fetal) Cells: DEPArray-Based Strategy to Examine CPM and POC

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

InteGen9:45 Interphase Chromosome Profiling (ICP) as a first line of testing for Products of Conception (POC): Clinical Utility & Cost-Effectiveness

Ramesh Babu, Ph.D., Founder and CEO, InteGen LLC

ICP is a novel technology with the attributes necessary for first-line testing of POC samples. The TAT for ICP is <48 hrs. It is failure-proof with results on every sample. It is more sensitive than cytogenetics and targeted FISH and provides a molecular karyotype. Unlike aCGH, it detects all balanced and Robertsonian translocations. ICP eliminates the long term tissue culture and reflex FISH testing, and it results in cost savings.

10:00 Coffee Break in the Exhibit Hall with Poster Viewing


10:40 Numerical Chromosomal Abnormalities after PGS and D&C

Tanmoy MukherjeeTanmoy Mukherjee, M.D., Assistant Clinical Professor, Obstetrics, Gynecology and Reproductive Science, Mount Sinai Hospital

This review provides an analysis of the most commonly identified numerical chromosome abnormalities following PGS and first trimester D&C samples in an infertile population utilizing ART. Although monosomies comprised >50% of all cytogenetic anomalies identified following PGS, there were very few identified in the post D&C samples. This suggests that while monosomies occur frequently in the IVF population, they commonly do not implant.


11:10 Chairperson’s Remarks

Catherine Racowsky, Professor, Department of Obstetrics, Gynecology & Reproductive Biology, Harvard Medical School; Director, IVF Laboratory, Brigham & Women’s Hospital

11:15 Guidelines and Standards for Embryo Preparation: Embryo Culture, Growth, and Biopsy Guidelines for Successful Genetic Diagnosis

Michael A. LeeMichael A. Lee, MS, TS, ELD (ABB), Director of Laboratories, Fertility Solutions

This presentation will discuss the basics of state-of-the-art in vitro fertilization and embryo culture and embryology laboratory techniques. We will review laboratory conditions to maximize oocyte fertilization and embryo culture to produce optimum embryos for biopsy, as well as preparation of embryos for biopsy and post-biopsy culture and vitrification of techniques and protocols.

11:45 Current Status of Time-Lapse Imaging for Embryo Assessment and Selection in Clinical IVF

Catherine RacowskCatherine Racowsky, Professor, Department of Obstetrics, Gynecology & Reproductive Biology, Harvard Medical School; Director, IVF Laboratory, Brigham & Women’s Hospital

It is well established that conventional morphological assessment is by no means a perfect method for predicting viability of human embryos. This talk will assess the utility of time-lapse imaging as an alternative approach for embryo assessment. The benefits and limitations of current time-lapse data will be reviewed and the current status of this imaging technology for selecting the most viable embryo for transfer in clinical IVF will be considered.

12:15 pm The Curious Case of Fresh Versus Frozen Transfer

Denny SakkasDenny Sakkas, Ph.D., Scientific Director, Boston IVF

The lecture will discuss the historical differences in outcomes between fresh versus frozen transfers, including how outcomes and, in particular, how live birth weights differ. A rationale of when it is safe to perform a fresh or frozen transfer will also be discussed.

12:45 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

2:05 Why Does IVF Fail? Finding a Single Euploid Embryo is Harder than You Think

Jamie GrifoJamie Grifo, M.D., Ph.D., Program Director, New York University Fertility Center; Professor, New York University Langone Medical Center

This talk will focus on chromosomal abnormalities in embryos, the different factors that affect them, and how they contribute to IVF failure. Dr. Grifo will review the published literature as well his own and describe an optimal approach to IVF that limits risk and maximizes benefit.


2:30 Chairperson’s Remarks

Mache SeibelMache Seibel, M.D., Professor, OB/GYN, University of Massachusetts Medical School; Editor, My Menopause Magazine; Author, The Estrogen Window

2:35 Genetic Counseling Bridges the Gap between Complex Genetic Information and Patient Care

Mary Ann W. CampionMary Ann W. Campion, EdD, MS, CGC, Director, Master’s Program in Genetic Counseling; Assistant Dean, Graduate Medical Sciences; Assistant Professor, Obstetrics and Gynecology, Boston University School of Medicine

In this domain, ethical issues abound, including barriers to informed consent, duty to warn, associated costs (to the healthcare system and to the patient), and controversial indications for testing.

3:05 Ethical Issues of Next-Generation Sequencing and Beyond

Eugene PergamentEugene Pergament, M.D., Ph.D., FACMG, Professor, Obstetrics and Gynecology, Northwestern; Attending, Northwestern University Medical School Memorial Hospital

This presentation on the ethical considerations of next-generation sequencing and related technologies will address the current status and future prospects of three critical issues. Does the introduction of these technologies into clinical practice in the United States: 1) Raise new ethical issues concerning preimplantation genetic testing? 2) Facilitate preimplantation genetic therapies? And, if so, 3) What should be the roles and responsibilities of local, state, and federal governments, of various medical societies, and of individual programs providing preimplantation genetic services?

3:35 Session Break

3:45 Closing Panel: The Future of Reproductive Genetic Diagnostics: Is Reproductive Technology Straining the Seams of Ethics?


Mache SeibelMache Seibel, M.D., Professor, OB/GYN, University of Massachusetts Medical School; Editor, My Menopause Magazine; Author, The Estrogen Window


Rebekah S. Zimmerman,Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence

Denny SakkasDenny Sakkas, Ph.D., Scientific Director, Boston IVF

Michael A. LeeMichael A. Lee, MS, TS, ELD (ABB), Director of Laboratories, Fertility Solutions

Nicholas CollinsNicholas Collins, MS, CGC, Manager, Reproductive Health Specialists, Counsyl

Benjamin Franklin said, “An ounce of prevention is worth a pound of cure.” Reproductive genetic diagnostic tools and tests are evolving at the speed of light. Are we able to keep up with the practical and ethical implications of this technology? Join this panel of experts who will grapple with this question and others such as:

  • Where is this technology going? What is the next evolutionary step?
  • What are the biggest challenges scientists, clinicians, and counselors face with diagnostic tools – and the information we gather – today?
  • Where do our responsibilities lie in the treatment of embryos before and after treatment?

4:30 Close of Conference

Day 1 | Day 2 | Download Brochure | Speaker Biographies

Who should attend:

  • Reproductive Endocrinologists
  • Embryologists
  • Cytogeneticists
  • Fertility Specialists
  • Maternal/Fetal Medicine
  • OB-GYN Physicians
  • Genetic Counselors
  • Nurses

For more details on the conference, please contact:
Kaitlin Searfoss
Associate Conference Producer
Cambridge Healthtech Institute
Phone: (+1) 781-972-5498
Email: ksearfoss@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