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ISPD 21st International Conference on Prenatal Diagnosis and Therapy

July 10-12 // San Diego, California


Monday July 10, 2017

10:00am – 4:00pm


P-33: Exploring the etiology of false positive noninvasive prenatal testing (NIPT) for microdeletion syndromes

Amy Breman, Andrea Petersen, Janice L. Smith, Patricia Ward, Sandra Peacock, Alicia Braxton, Weimin Bi and Sau Wai Cheung

P-34: The clinical validity of noninvasive prenatal testing (NIPT)for chromosomal microdeletion syndromes

Andrea Petersen, Janice L. Smith, Patricia Ward, Sandra Peacock, Alicia Braxton, Sau Wai Cheung, Weimin Bi and Amy Breman

P-35: Experience performing cell‐based noninvasive prenatal testing using NGS‐based copy number assessment of fetal cells

Amy Breman, Liesbeth Vossaert, Roseen Salman ,Sadeem Qdaisat, Qun Wang, Xinming Zhuo, Adriel Kim, Jennifer Chow, Lance U’Ren, Elizabeth Normand, Chad Shaw, David Henke, Elizabeth Chang, Ron Seubert ,Eric Kaldjian, Jackie Stilwell, Yaping Yang, Ignatia Van den Veyver and Arthur Beaudet


Tuesday July 11, 2017

11:00am – 11:30am

Grande Ballroom B&C

Experience with Exome Sequencing for Fetal anomalies

Magdalena Walkiewicz, PhD

September 20, 2016
Baylor Genetics Selects Edico Genome’s DRAGEN to Improve Turnaround Times

HOUSTON and SAN DIEGO (September 20, 2016) -- Baylor Genetics,a genetics laboratory specializing in the development and commercialization of the highest quality genetic testing and genomic lab testing, today announced it has selected Edico Genome’s DRAGEN™ Bio-IT Processor to accelerate test turnaround time in clinical settings. DRAGEN will support Baylor Genetics’ extensive testing portfolio, including its GeneAware reproductive carrier screen, rare disease diagnostic testing and whole exome sequencing test. Rapid turnaround times allow Baylor Genetics Laboratories’ physicians and genetic counselors to communicate results to patients faster, enabling treatment decisions to be made as quickly as possible.

“Baylor Genetics’ value proposition is getting its clients the right answers, right away,” said Ron Zoppo, Baylor Genetics’ Information Technology Director. “By implementing DRAGEN, we will combine the speed and accuracy of Edico’s platform with the deep and broad knowledge base of Baylor Genetics’ experienced genomic interpretations teams. Faster turnaround times and confident results mean satisfied customers. We’re excited to accelerate our testing efforts by partnering with Edico.”

Baylor Genetics, formerly Baylor Miraca Genetics Laboratories, a joint venture between Baylor College of Medicine and Miraca Holdings, Inc., recently launched the Ready With Answers initiative, which is committed to improving turnaround times, customer service support, user-friendly billing and innovative genetic counseling services. As part of the agreement, DRAGEN will be the primary platform for next-generation sequencing secondary analysis at Baylor Genetics.

“As genomics continues to expand into clinical settings, analyzing results rapidly and accurately is more critical than ever as patients and physicians rely on these answers to proceed with treatment decisions,” said Pieter van Rooyen, Ph.D., chief executive officer of Edico Genome. “Baylor Genetics’ commitment to accelerating test turnaround times will enable patients to receive the best care possible, and we are proud that DRAGEN’s speed and accuracy are improving the lives of patients as well as genetic counselors and physicians.”

DRAGEN is highly reconfigurable, using a field-programmable gate array (FPGA) to provide hardware-accelerated implementations of genome pipeline algorithms, such as BCL conversion, compression, mapping, alignment, sorting, duplicate marking and haplotype variant calling. The platform includes whole genome and exome , transcriptome , joint genotyping , methylation, and GATK pipelines, and allows users to develop custom algorithms as well as refine and improve existing pipelines. Users are able to develop custom algorithms as well as refine and improve existing pipelines. Updated versions are made available for customers through simple remote downloads.

Join Edico Genome, Baylor College of Medicine and other industry leaders for a discussion about barriers and breakthroughs in precision medicine and how they are using DRAGEN to support their work at the 2016 American Society of Human Genetics (ASHG) annual meeting on Wednesday, Oct. 19, at 7:15 a.m. PT. Register for the event by visiting Edico’s website..

About Edico Genome
Edico Genome has created the world’s first bioinformatics processor designed to analyze next-generation sequencing data, DRAGEN™. The use of next-generation sequencing is growing at an unprecedented pace, creating a need for a technology that can process this big data rapidly and accurately. Edico Genome’s computing platform has been shown to speed whole genome data analysis from hours to minutes, while maintaining high accuracy and reducing costs, enabling clinicians and researchers to reveal answers more quickly. For more information, visit or follow @EdicoGenome.

June 15, 2016
Mr. Gary Huff joins Baylor Miraca Genetics Laboratories as President and Chief Executive Officer

HOUSTON, Texas, June 15, 2016 – Baylor Miraca Genetics Laboratories, LLC (“BMGL”), a specialist in the development and commercialization of the highest quality genetic and genomic testing, today announced that Gary Huff will join the company as President and Chief Executive Officer. Mr. Huff is a clinical laboratory industry veteran with a proven track record of accelerating business growth and strategically aligning organizations to achieve outstanding results.

Prior to joining BMGL, he was the Executive Vice President and Chief Operating Officer of Solstas Lab Partners; the largest private full-service clinical testing laboratory serving the southeast, owned by the New York-based private equity firm of Welsh, Carson, Anderson and Stowe.

Before leading Solstas, he was a senior executive for Laboratory Corporation of America. During his tenure, he held various leadership positions to include: North Atlantic Division Senior Vice President, National Toxicology Senior Vice President, Vice President of National Sales and Marketing Operations and Executive Director of Business Development.

Mr. Huff holds a Master's in Organizational Management, Six Sigma Lean Black Belt Certification, and he is a graduate of Indiana University with a Bachelor of Arts in General Studies/Psychology. He is also a graduate of the Executive Development Program at Elon University – Martha and Spencer Love School of Business.

About Baylor Miraca Genetics Laboratories

BMGL was established as a joint venture between a Japan-based holding company, Miraca Holdings (“Miraca”), and Baylor College of Medicine (“Baylor”) on February 2, 2015. BMGL specializes in the development and commercialization of the highest quality genetic and genomic testing. BMGL offers a broad range of testing from traditional cytogenetics to chromosomal microarray analysis and next generation sequencing. BMGL is located in Houston’s Texas Medical Center with over 200 employees, over 3,000 tests available and clients in all 50 states and in 16 countries. BMGL’s lab is well-equipped with cutting edge diagnostic equipment, allowing it to efficiently generate the most accurate clinical genetic data. Through rigorous quality assurance, daily and monthly conferences, and close relationships with clinical partners, BMGL continuously improves diagnostic precision.

About Miraca Holdings

Miraca Holdings, a Japan-based holding company with group net sales of JPY204.7 billion (FYE 3/2015), is engaged in the following three business segments in the healthcare sector : (1) development, manufacture, and commercialization of in vitro diagnostics, (2) clinical laboratory testing, and (3) other healthcare related businesses, which are conducted by its subsidiaries and affiliates including Fujirebio Inc., a leading supplier of in vitro diagnostics in Japan, and SRL, Inc., Japan’s largest commercial laboratory. Miraca owns 60% stake of BMGL. For more information about Miraca Holdings, please visit

Media Inquiries

Glenna Vickers

April 13, 2016
Shashikant Kulkarni joins BMGL as senior Vice President of Lab Operations, Chief Science Officer

HOUSTON – (April 13, 2016) -- Baylor Miraca Genetics Laboratories has hired Shashikant Kulkarni Ph.D., FACMG, as Senior Vice President of Lab Operations and its Chief Science Officer, announced Baylor Miraca CEO, Gary Huff. In addition to his role at Baylor Miraca, Kulkarni also has been named Vice Chairman for Research and a tenured professor in the department of molecular and human genetics at Baylor College of Medicine.

“We are excited to bring someone of Dr. Kulkarni’s stature and experience aboard our growing team,” said Huff. “He has been at the forefront of genetic research, education and application, and will be a tremendous asset to Baylor Miraca as we expand our laboratory and menu of services, especially in the areas of cancer. His academic mindset and ability to blend research interests with a keen insight on precision medicine is a perfect fit for us as we continue in our mission to be the gold standard in genetics testing.”

A Refreshed Visual System
The Baylor Genetics Idiogram speaks to Baylor’s long history in genetics, as the laboratory was among the first to introduce karyotyping. It also serves as a graphic representation of the business; multiple strips and gradients highlight the multitude of tests it performs, and its color palette conveys a sense of energy and approachability. Bolder photography and iconography will also be incorporated into websites, social platforms, and collateral.

An Operational Opportunity
The value proposition will be deployed operationally, too. The company is undergoing improvements that reflect the Ready With Answers theme, including improved turnaround times, customer service support, user-friendly billing, and innovative genetic counseling services.

“As an organization, we remain steadfastly committed to our institutional and private-practice clients, as has been the case for over three decades. Yet, this new representation of Baylor Genetics clearly shows that we are evolving by expanding new test offerings, forging into new markets, and differentiates our leadership position in the genetics and genomic industry,” added Huff. “Miraca Holdings, our majority shareholder, will continue to guide us in executing operational improvements and running a stronger, more efficient business.

The value proposition - founded in academics and driven by discovery, Baylor Genetics delivers the most comprehensive and accurate answers to genetic challenges - extends to all customer channels.

Dr. Kulkarni has research interests in cancer genomics, specifically clinical application of next-generation sequencing to characterize cancer genomes, transcriptomes and epigenomes to drive precision medicine. Dr. Kulkarni is leading efforts to defining standards for next generation sequencing in clinical diagnostics through his collaboration with the Centers for Disease Control and Prevention through the Clinical Next-Generation-Sequencing Quality Standards National Working Group and as a co-chairman of Clinical Laboratory Standards Institute (CLSI) for microarray-based clinical genomic diagnostics. He served on the Scientific Advisory Board of NIH Institute – National Institute of General Medical Science’s Coriell Institute, Bina Technologies, Swift Biosciences, Roche Diagnostics, Cancer Genomics Program at Princess Margaret Hospital-Toronto, Horizon Discovery and Transgenomics.

Dr. Kulkarni is considered an expert and key opinion leader in the field of Clinical Genomics and Next Generation Sequencing technology and he has given numerous invited presentations both nationally and internationally. He is on the editorial board of several peer-reviewed journals and is editor-in-chief of Cancer Genetics journal and has co-edited the book “Clinical Genomics - A guide to clinical next-generation sequencing.”

Dr. Kulkarni is frequently featured in news media for his thoughts and opinions in key publications such as ABC news, CAP today, Nature Medicine, and Nature Biotechnology, to name a few. He has published extensively in peer-reviewed articles in journals such as Cell, Cell Systems, Nature, Nature Genetics, Nature Biotechnology, Journal of American Medical Association (JAMA) and New England Journal of Medicine (NEJM).

With his role as the co-chairman of Somatic Cancer Workgroup in ClinGen, Dr Kulkarni is enthusiastically involved and is funded by the multi-institutional, National Institutes of Health (NIH) supported $25 million ClinGen grant awarded to develop authoritative information on the millions of genomic variant relevant to human disease and the hundreds that are expected to be useful for clinical practice.

February 23, 2016
Baylor Miraca Announces Strategic Partnership With Diversigen

HOUSTON – (February 23, 2016) -- Baylor Miraca today announced a strategic partnership with Diversigen, Inc., the leading provider of comprehensive microbiome analysis services, to provide its customers access to a broad range of targeted genomics and metabolomics services. The two companies, both commercial endeavors of Baylor College of Medicine, are leveraging the scientific acumen and research infrastructure from the renowned College that founded them. Each company will provide access to the services of the other for customers interested in a greater understanding of the host-microbiome relationship.

“Partnering with Diversigen gives us a tremendous opportunity to extend our reach into new markets, while maintaining a very clear and aligned path towards improving patient health around personalized medicine,” said Gary Huff, Baylor Miraca President and CEO.

According to Cynthia Sheridan, Diversigen President, “Our pharmaceutical customers have expressed an interest in correlating microbiome data with specific host genetic traits to better understand the host-microbiome relationship as a factor in disease and in the search for more effective therapies. This partnership with BMGL will allow us to provide broader services resulting in deeper insights into human health and disease.”

About Diversigen
Diversigen provides comprehensive microbiome and metagenomic services, including customized and complex data analysis, focused on solutions to improve human and animal health, environmental conditions, and agriculture production worldwide. The company is a BCM Technologies, Inc. portfolio company. Building on research conducted at the Alkek Center for Metagenomics and Microbiome Research at Baylor College of Medicine, Diversigen has years of experience, flexible sequencing, and massive bioinformatics capacity with highly diverse microbiome sample types. For more information, visit

November 17, 2015
Baylor Miraca Incorporates Oxford Gene Technology’s SNP Array Probe Technology

HOUSTON – (November 17, 2015) -- Baylor Miraca Genetics Laboratories has entered into an agreement with Oxford Gene Technology (OGT), The Molecular Genetics Company, to license the use of OGT’s proprietary single nucleotide polymorphism (SNP) array probe technology.

As part of the agreement, Baylor Miraca will utilize aCGH arrays containing both copy number variation (CNV) and SNP probes to identify a broad range of genetic syndromes. OGT’s intensity-based SNP probe technology provides an alternative to restriction enzyme-based approaches, which are unable to accurately analyze small amounts of DNA. The probes, designed by OGT, target each SNP allele, with the intensity ratio following hybridization allowing reliable detection of loss of heterozygosity (LOH).

Baylor Miraca Vice President of Operations, Sean Kim, says the relationship with OGT will enhance Baylor Miraca’s test offerings. “We are dedicated to the rapid delivery of the most accurate genetic analyses,” said Kim. “Through the application of OGT’s technology, we are now able to provide reliable array-based analysis of both copy number variation and loss of heterozygosity for challenging samples. We are now also looking to other areas of genetic analysis, expanding the use of this technology toward our complete portfolio.”

As a fully comprehensive approach to its genetic analysis strategy, Baylor Miraca will also utilize OGT’s Cytocell FISH probes, and following validation, will further expand the use of these probes.

“We are proud to be advancing the capabilities of such a prominent organization as Baylor Miraca with our SNP array probe technology and Cytocell FISH probes,” said Dr. Mike Evans, CEO of OGT. ”This presents just the first step in an ongoing relationship, and we look forward to continuing this close cooperation.”

About Oxford Gene Technology
Oxford Gene Technology (OGT) provides world-class genetics research solutions to leading clinical and academic research institutions. Founded by Professor Sir Edwin Southern, and with customers in over 60 countries worldwide, OGT has a strong reputation and increasing share in the large and growing genomic medicine market. The company’s Cytocell®, CytoSure™, and SureSeq™ range of fluorescence in situ hybridisation (FISH), microarray and next generation sequencing (NGS) products deliver high-quality genetic analysis, enabling accurate identification and confirmation of the causative variation underlying genetic disease.

For more information, please visit

May 14, 2015
Critical WES Launches enhanced clinical exome sequencing test, faster delivery of results

Glenna Vickers

HOUSTON – (May 14, 2015) -- Baylor Genetics announced today the launch of an enhanced clinical exome sequencing test, a new option for physicians that speeds up delivery of final results to two-three weeks from three months.

The test, called CriticalWES trio, brings industry best turnaround time to a test already known for its superior coverage and content.

Whole exome testing looks at the protein-coding region of the human genome that contains functionally important sequences of DNA that direct the production of proteins essential for the body to function properly.

Baylor College of Medicine has pioneered research and development of this type of test, initially launching it for clinical use in 2011. CriticalWES is just one of a catalogue of advanced genetic tests offered through the Baylor Genetics.

CriticalWES can be used whenever a rapid molecular diagnosis is needed, but may be particularly useful in the neonatal intensive care setting where rapid results are critical to patient care.

“We have listened to physicians, patients, and families who have the need for a more rapid molecular diagnosis to optimally inform patient care,” said Dr. Christine Eng, vice president and executive laboratory director of the Baylor Genetics.

“The enhanced test is definitely a game changer,” said Dr. Carlos Bacino, professor of molecular and human genetics at Baylor, director of the Kleberg Genetics Clinic and Genetics Service Chief and Texas Children's Hospital and medical director of the Baylor Genetics Cytogenetics Laboratory. “We work with rare disorders and usually deal with very sick children. Sometimes the clinical presentation of these conditions happens at birth or soon after, and many are life threatening. While some diagnoses can wait three to fourth months, others having a quick diagnosis can help with treatment and management.”

Some of these conditions include intractable seizures, acute regression with neurodegeneration, multiple congenital anomalies, severe congenital heart disease, apnea and suspected inborn errors of metabolism, he said. “The typical clinical outpatient can perhaps wait for the diagnosis but the inpatient that has a more acute presentation would benefit greatly from this advance. This new test would be quickly embraced and adopted for many of these hospitalized patients.”

Advances in technology and optimization of processes and informatics, as well as expedited interpretation makes this rapid turnaround time possible. The Baylor Genetics now has experience signing out over 5,000 clinical whole exome cases, with an overall positive rate of approximately 28 percent using very strict standards for considering if a patient case has been solved.

“This is a significant improvement to our exome product,” says Brandon Perthuis, vice president of sales and marketing of the Baylor Genetics. “Getting results back to physicians and families in two to three weeks, makes whole exome sequencing useful in many new applications.”

The report for CriticalWES will be focused on the patient’s phenotype or known symptoms that necessitated the testing, but it may also include secondary findings that might be amenable to treatment or close monitoring. If a patient or his or her guardian do not want to know this information, the laboratory can eliminate it from the report.

CriticalWES is a trio analysis, meaning parental samples must be included. By sequencing the family trio, de novo mutations in disease genes and well as de novo mutations in novel genes can be rapidly detected. This helps with both discovering the underlying genetic cause of the patient’s phenotype as well as new gene discovery.

In addition to rapid turnaround time, the Baylor Genetics is committed to delivering the best coverage for whole exome sequencing.

“No exome provides 100 percent coverage,” said Eng. “However, we have continuously looked for ways to improve our coverage, and with proprietary methodologies we are able to specifically target important genes to ensure the best coverage possible.”

The Baylor Genetics has developed a process that allows for improved coverage of over 5,000 clinically relevant genes, such as those found in the Online Mendelian Inheritance in Man and Human Gene Mutation Database databases.

The test must be ordered by a physician. For more information, click here or call 1-800-411-GENE (4363) or 713-798-6555.