Download October-2015 Volume-2 - Xcelris Medical Genetics

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Volume-II, October-2015
NewUpdates.Newinitiatives.NewBreakthroughs.NewTechnologies.
Catchallthat'snewatXcelrisandinourindustrywithXcelrisNewsBytes.
IMPACT OF WHOLE EXOME SEQUENCING (WES) IN HEALTHCARE
by Dr. Prashanth Bagali
Abou Xcelri
Xcelris Labs Limited is a l ife
sciences based innovative
research organization delivering
solutions across domains such as
Agriculture , E nvironmental
Recent advances in the areas of genomics, medical sciences, clinical
bioinformatics and next generation sequencing technologies have accelerated
discovery of genes associated with the communicable and non-communicable
diseases. In the previous article, we have shared novel applications and
Genetics, Animal science,
approaches in the GBS (Genotyping- by-Sequencing). In the present article, we
Nutrition and Human health. We
have shared our experience in an implementation of whole exome sequencing
operate through two key divisions
(WES) to study hereditary diseases and rare genetic disorders. Exome (Exons
i.e Genomics and Medical
present in genome) accounts for 1% of the human genome, among them, 85%
Genetics. At Xcelris Genomics
of exons are associated with many disease-causing mutations and SNPs (Single
Division, we partner with more
Nucleotide Polymorphisms).
than 1000 research institutions
across India and world to provide
key services like Sanger
WES has great value in medicine and medical research. At Xcelris, we have
performed sequencing of the complete coding regions (whole exome
Sequencing, Next Generation
sequencing) for more than 50 clinical samples, who had been referred by
Sequencing, Molecular Biology
medical geneticists for a variety of clinical conditions. Among them 50% of
kits and Oligo synthesis. In a span
patients carried causal variations as well as predisposing variants of rare
of 10 years, we have completed
genetic disorders. About 30-40% were for carrier testing of genetic variants,
15,000+ sequencing projects
due to strong family history. Remaining few samples were for identication of
and 1000+ Next Generation
disease-causing variants of unknown signicance. There were no trio
Sequencing projects. Through our
sequencing samples, therefore, we focused on genotypes seen only in the
Xcelris Medical Genetics (XMDx)
patients and not in unaffected parents or nearby relatives. We were successful
division we offer genetic testing
in the identication of mutations of already known genes and also to detect
service based on Sequencing for
genes or pathogenic variants of rare disorders and novel hereditary diseases.
cancer diagnosis and therapy
selection, infectious diseases and
inherited genetic disorders in
humans.
Clinical Applications:
Exome sequencing identies the cause of a Mendelian disorder or
uncommon monogenic disorders, known and unknown variants and
Ke Peopl
mutants; metabolic disorders, fetal diseases, known SNPs, indels (insertions
Management
and deletions), UTRs (untraslated regions) and other neurodevelopmental
Ms. Milina Bose
diseases. There are many case studies wherein WES has helped to solve
Executive Director & V.P.
challenging cases, by providing genetic diagnosis of their clinical
conditions. WES plays a pivotal role in the prognosis and diagnosis of
Business
genetic diseases, prenatal disorders, neonatal syndromes and other
Mr. Bipul Banerjee
physiological conditions for which no genetic cause was found with the
General Manager - Sales
targeted testing or chromosomal arrays. Finally, a large number of variants
are located in introns and intergenic regions of human genome, which may
Technical
Dr. Prashanth Bagali
Associate Vice President
Genomics Research and Diagnostics
Dr. Srinivas Vudathala
General Manager
NGS Services
be benign or pathogenic, can not be identied by WES.
Recommendations from a National Institutes of Health (NIH):
Recently, NIH acknowledged clinical validity and clinical utility of personal
genomic tests provided by private genetic companies. Xcelris Labs is making
all efforts to comply with the NIH recommendations, namely, applying
minimal reporting standards, enhancing credible knowledge synthesis and
Dr.Sanjay Singh
Sr. Manager-Sequencing & R & D Services
information dissemination to clinicians and consumers (pre- and postanalytical genetic counselling), clinical interpretation and risk assessment
Chandan Badapanda
[Original article: Genet Med 2009:11(8):559 –567].
Sr. Scientist, Bioinformatics
In the future articles, we will present few interesting case studies using WES.
Prashanth Bagali
Associate Vice President - Genomics Research and Diagnostics, Xcelris Labs Ltd.
He is a Doctor of Philosophy (PhD) in Genetics with specialization in Molecular marker
technology and Genome mapping. His Post Doctoral research work was on microarray and
RNAi technologies at National Institute of Health, Bethesda, USA. He has more than 20 years
of research and industry experience in USA, Germany, France, Philippines, Malaysia,
Singapore, Thailand, Sri Lanka and Australia. He has been recognized by the Ministry of
Science and Technology, Ministry of Health, Biotechnology Corporation of different countries
and has received many prestigious awards.
It’s time to win goodies from "Xcelris NEWSBYTES"
Answer 2 simple questions within 2 days of receiving this mail.
Q1: Arrange the following areas of genetic testing, in the decreasing order of clinical
signicance of WES in Oncology?
(A) Predictive and pre-symptomatic testing (B) Preimplantation genetic diagnosis (PGD)
(C) Prenatal testing (D) Carrier testing (E) Diagnostic testing (F) Newborn screening
p
Hurr y U
&
n
i
w
goodies
Q2: How much % of Exons is associated with disease-causing mutations and SNPs
(Single Nucleotide Polymorphisms)?
(A) 85% (B) 90% (C) 75%
(*Winner will be announced after 6th issue.
*Person with maximum right answers & on rst come rst serve basis will be announced as a winner.)
Reply us on: [email protected]
Next article
Dr. Sanjay Singh: Multi Locus Sequencing Typing (MLST);
“A new road map for microbial identication on ABI3730"
Write to us:
[email protected] • [email protected]
Xcelris Labs Ltd.
Old Premchand Nagar Road, Opp. Satyagrah Chhavani, Bodakdev,
Ahmedabad-380015, India. Tel.: +91-79-66197777 | Fax: +91-79-66309341
www.xcelrislabs.com
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