Visit Us @ Booth 507REGISTER FOR WORKSHOP
VISIT US @ ASHG 2017 in Orlando, FL, October 17 - 21, 2017, at BOOTH 507. Learn how the Echo Acoustic Liquid Handler can enable low cost, highly efficient library preparation.
Echo Liquid Handlers overcome traditional barriers in genomics by dramatically reducing sample and reagent volume requirements. While miniaturization reduces research costs, the Echo system's non-contact transfer also eliminates cross-contamination to ensure reliable and reproducible data. From the basics of PCR setup to the complexities of synthetic biology, the Echo Liquid Handler saves time and money, improves decision making, and empowers research programs.
Location: Exhibit Hall
Speaker: Jefferson Lai, Applications Scientist, Labcyte Inc.
Echo Acoustic Liquid Handling for Genomics
by Randy Dyer, Director, Product Marketing, Labcyte Inc.
NGS Library Preparation for CGT Analysis Using the Echo Liquid Handler
by Pere Mir Pardo, Ph.D., Laboratory Manager, IGENOMIX, Valencia
Abstract: The IGENOMIX Carrier Genetic Test consists of of a combined analysis of 600 Mendelian diseases by means of Next Generation Sequencing technology (NGS). The objective of CGT is to predict the genetic risk of having a child with a genetic disease by detecting the Carrier status of both members of a couple willing to conceive. CGT can be applied before attempting a pregnancy by natural means or by assisted reproduction treatment, but also before treatment with donor sperm or eggs.
When the CGT result finds a mutation in the same gene in both members of the couple, there exists a risk for their offspring to inherit a disorder related to these mutations. In those cases, Preimplantation Genetic Diagnosis (PGD) can be offered to detect these mutations in the embryos of the couple, and only embryos free of these mutations will be transferred to the maternal uterus.
Specifically, CGT involves the analysis of genetic mutations present in protein-coding regions of 547 genes (that account for 600 diseases) using a NGS-based laboratory protocol. The Echo® 525 Liquid Handler has been used in the library preparation step that is crucial for this NGS protocol. The use of this new technology in NGS library preparation allows for the reduction of the volume of reagents used per sample as well as reducing the hands-on time for this protocol. The combination of both advantages is associated with a reduction in costs.
From October 2015 through December 2016, 6,156 samples were analyzed using the conventional NGS protocol. The Echo system was introduced into our laboratory in January 2017. From then until July 2017, a total of 4,277 samples were analyzed using the Echo protocol.
Results of both protocols are similar in terms of sensitivity (0.9858) and specificity (0.9997) of mutation detection. In both cases, 5% of the couples were found to be positive for mutations in the same gene and PGD was offered to them.
In conclusion, NGS-based expanded CGT analysis constitutes a powerful tool to predict risk for Mendelian diseases, and coupled with the Echo system, it makes the test more affordable and widely available to a higher number of patients.
About Pere Mir Pardo
Pere Mir Pardo has a Degree in Sciences from the University of Valencia (Spain) and a Master’s degree in Biotechnology of Human Assisted Reproduction from the same university. His Ph.D. is related to the introduction of arrayCGH technology for clinical practice in Preimplantation Genetic Screening. He enjoys a rich experience of 10 years working in the reproductive genetics field.
He is continuously involved in projects with specific interest in the introduction of new technologies in the clinical practice of several areas in reproductive genetics: carrier genetic screening programs, non-invasive prenatal testing and preimplantation genetic analysis. He is also part of research projects in the same field. These studies have been translated into the publication of several peer-reviewed articles in international scientific journals and book chapters, along with his yearly presence as a speaker in international congresses. During 2013 and 2014, he was the Laboratory Director in IGENOMIX India (New Delhi, India), and since 2015 he is the Laboratory Manager of the Central Lab in IGENOMIX, Valencia (Spain).