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Enabling efficient Discovery and Clinical Research in drug response: Application of a targeted Next-Generation Sequencing Assay for Pharmacogenetics

Pharmacogenetic (PGx) testing enables researchers to understand a person’s genetic propensity for a therapeutic response or an adverse reaction to particular medications. Recently the NIH’s Precision Medicine Initiative has begun a nationwide effort to individualize a subject’s treatment program, while the FDA has already included PGx information in over one hundred drug labels. Serious drug reaction events are likely to become more prevalent as more drugs become available and the number of pharmaceuticals each person is taking increases. To understand the occurrence of these events, sequencing genomic regions associated with metabolism of a wide-spectrum of drug classes can help inform clinical researchers, and better characterize the frequency of known and novel haplotypes within validated genes involved in drug metabolism pathways.

In this presentation, we will describe a method and workflow for targeted pharmacogenetic gene sequencing using Kailos’ TargetRichTM PGxComplete assay.

Julie Collens, Associate Director, Market Development, Illumina , Troy Moore, Chief Scientific Officer and Founder, Kailos Genetics
Next-generation solutions for the next era of sequencing

The latest NovaSeq advancements have arrived—delivering unprecedented scalability and flexibility for next-generation sequencing (NGS). Discover how the S4 flow cell allows you to use the NovaSeq 6000 System to take your research to the next level.

Join Gary Schroth, Illumina Distinguished Scientist, to learn about these latest advancements with the NovaSeq 6000 System. See how the S4 can provide you the highest throughput of any sequencer. Finally, with the new NovaSeq Xp workflow, you can expand your research, giving you more flexibility than ever before.

Gary Schroth and Aboli Rane , Illumina
The Effective Implementation of NIPT into a Busy Practice: An Obstetrician Perspective

Medical societies now recommend that all women, regardless of age, be offered screening and diagnostic testing for aneuploidy during pregnancy.1-2 Noninvasive prenatal testing (NIPT) is a newer screening option that utilizes the presence of cell-free DNA in a pregnant woman’s blood originating from the pregnancy. Whole-genome sequencing-based NIPT can screen for common aneuploidies (trisomy 21, trisomy 18, trisomy 13, and certain sex chromosome aneuploidies) with greater accuracy than other available screening modalities, resulting in a significant reduction in false positive rates and, subsequently, potential reduction in invasive procedures in healthy pregnancies.3

In this webinar, Tina Ziainia, MD, FACOG, an Obstetrician-Gynecologist affiliated with Sharp HealthCare, provides insight and expertise on successfully implementing NIPT into a busy practice. Having been in practice for over 17 years and having offered NIPT since 2013, she’ll also discuss prenatal screening options, review the latest ACOG and ACMG screening guidelines, and identify helpful resources for both you and your patients.



1. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.

2. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016: doi:10.1038/gim.2016.97.
3. Bianchi DW, Rava RP, Sehnert AJ. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;371(6):578.

Tina Ziainia, MD, FACOG , Sharp HealthCare
主题: Reproductive Health
Dissecting the genetic basis of Brugada Syndrome

Brugada Syndrome belongs to a family of rare inherited cardiac disorders that can lead to sudden cardiac death. Rare genetic variants in the SCN5A gene can be identified in ~20%* of cases with Brugada Syndrome, while the genetic basis in the others remains unresolved.

Ongoing studies, combining data from multiple genomic methods, are helping to elucidate the genetic basis of Brugada Syndrome and other complex cardiac disorders with the aim of improving patient care in the future.

Register for the webinar to hear Professor Connie Bezzina present data from her laboratory and ongoing collaborative studies with the Brugada Syndrome Genetics Consortium.

Professor Connie Bezzina, Professor of Molecular Cardiogenetics , Academic Medical Center, University of Amsterdam
主题: Genetic Health
iDTECT Blood, a sample-to-report next-generation sequencing (NGS) solution for precision diagnostics in infectious diseases

This webinar will provide an overview of the development, validation and clinical evaluation of PathoQuest’s iDTECT Blood. This CE IVD test represents an application of NGS-based shotgun metagenomics to the field of infectious disease diagnosis. The test provides microbiologists and clinicians a precision diagnostics tool allowing individualized antimicrobial treatment decisions in patients where current microbiological methods frequently fail to identify a responsible pathogen. Both the sample preparation and the bioinformatic pipeline have been optimized to provide high sensitivity and accuracy and an actionable report. Clinical results from a prospective study recently published in Clinical Microbiology and Infection will also be discussed.

Helene Peyro-Saint-Paul, MD - Chief Medical Officer , PathoQuest
主题: Genetic Health : Microbial Genomics
The Human Microbiome: lessons and challenges in deciphering the microbiota in health and disease

Mechanisms of microbial pathogenicity have been extensively analyzed using a broad spectrum of methods, which are driven largely by the technologies available at that time. As animal experimentation gave way to in vitro methods, specific pathogens were systematically investigated as individual dominant clones and colonizers. With the arrival of next-generation sequencing, microbiomes of very diverse habitats are being described. Thus, the microbiome of newborns versus those of the elderly are now prescribed, also the transition and shift in complexity and specificity of bacteria from the oral cavity through to the gut compared to the skin and respiratory are now cataloged and mapped across communities and in response to stress and stimuli.  This tremendous leap in deciphering the human microbiome has ushered a new era of microbiology in which formidable challenges in establishing the foundation of taxonomy, dynamics and function of the residential microbial communities dominate.  

This talk will present the progress made in metagenomics and the use of largely unassembled sequences in constructing the microbial communities forming the human microbiome. The knowledge assembled from microbial whole genome sequences, and the metabolic traits of the human flora are perhaps the most significant framework for the construction of reference microbiomes that can drive research into how transient pathogens establish in new niches and drive the shift from health to disease. 

Professor Saheer Gharbia , Head of Genomics Research Unit Public Health England
主题: Genetic Health : Microbial Genomics
Illumina TruSight HLA Case Study Webinar Series HLA typing of buccal swabs using TruSight HLA

The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight HLA , sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeq systems, and analyzed using TruSight HLA Assign software.

Eric T. Weimer, PhD, D (ABMLI) , University of North Carolina at Chapel Hill School of Medicine
主题: Transplant Genomics
See the NovaSeq Series in action(语言:英语;时区:美国太平洋时间)

Discover a new era of sequencing with the NovaSeq Series. Join us for a live webinar event to see firsthand how we are redefining what is possible with high-throughput sequencing. Built from the ground up to fulfill your scientific visions, the NovaSeq Series gives you the flexibility and scalability to complete projects faster and more economically than ever before across a broad range of applications.

Webinar at a glance

  • Overview of instrument and consumables
  • Demonstration from run setup through data analysis
  • Data analysis using BaseSpace® Sequence Hub
Brian Steffy, David Miller, and Aboli Rane , Illumina
Introduction to BaseSpace® Variant Interpreter (Beta) and an overview of the workflow

Simplifying and Expediting Genomic Workflows with Integrated Informatics.

Until now, managing, analyzing, and interpreting genomic data has been an arduous process that required disparate data systems and the need to assemble a diverse set of software applications.

In this succinct webinar, we address how BaseSpace Variant Interpreter (Beta), the newest member of the BaseSpace Informatics Suite, can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report. Integrated with BaseSpace Sequence Hub, BaseSpace Variant Interpreter enables rapid extraction to biological insight while increasing a genomic clinical research lab’s operational efficiency with a scalable secure solution.

This webinar is part of a series exploring BaseSpace Informatics Suite. Details of additional events will be presented during the webinar.

Rebecca Hemenway, M.S. Sr. Product Manager. Donavan Cheng, Ph.D. Director, Bioinformatics. , Illumina
PPV of NIPT: Maximizing the value of NIPT for your patients

Join Dr Tracy Prosen to better understand the performance characteristics of noninvasive prenatal testing (NIPT), with a special focus on positive predictive value (PPV). 

After attending, you’ll be able to:

•    Describe how PPV varies for different conditions and in different testing populations
•    Calculate PPVs for effective counseling of patients with positive NIPT results

Tracy Prosen, MD, Assistant Professor, Department of Obstetrics, Gynecology and Women’s Health , University of Minnesota
主题: Reproductive Health