Emory Genetics Laboratory launches Medical EmExome sequencing for clinical diagnosis

Woodruff Health Sciences Center | March 14, 2014

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Holly Korschun
404-727-3990
hkorsch@emory.edu

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The new Medical EmExome whole exome sequencing test is the first to provide enhanced coverage of medically relevant genes.

With the launch of its new Medical EmExome, Emory Genetics Laboratory (EGL) now provides the highest sequencing coverage of medically relevant and known disease-associated genes (approximately 4,600) of any CLIA-/CAP-certified laboratory. EGL launched its first generation exome sequencing in 2012 and the latest iteration, the Medical EmExome, in January 2014. 

Whole exome sequencing is a cheaper, faster, "executive summary" strategy for reading the parts of the genome scientists believe are the most important for diagnosing disease – the exome. Most disease-causing mutations (about 85 percent) are found within the regions of the genome that encode proteins (about one percent of the total), which are the workhorse machinery of the cell.   

"Emory Genetics laboratory was the first academic laboratory to bring next generation sequencing (NGS) to the clinic. We are now offering over 70 NGS disease-specific panels," says Madhuri Hegde, PhD, FACMG, executive director of Emory Genetics Laboratory. "With the new Medical EmExome, which comes with a complementary EmExome Boost Option at no added cost, we can now offer near complete coverage of all medically relevant genes and comprehensive coverage of genes suspected to cause the patient's phenotype.

"The current yield of exome sequencing across clinical labs is about 25-30 percent," says Hegde. EGL's Medical EmExome is expected to significantly enhance the clinical yield. This will generate more evidence for moving away from gene-by-gene testing and making exome sequencing a first-tier test similar to the cytogenetics array used for structural abnormalities."

In addition to its enhanced coverage of medically relevant genes, the Medical EmExome also features the EmExome Boost Option, which allows clinicians to choose a panel of genes relevant to a patient's phenotype. These will be completed with Sanger sequencing of any low coverage regions to ensure coverage of all exons in the panel and the detection of genetic copy number variations (CNVs), at no additional cost. Emory Genetics Laboratory is the first clinical laboratory to offer near complete coverage of all medically relevant genes with its EmExome Boost Option.

A research protocol is also available for extended exome and genome testing for the discovery of novel disease genes.

Geneticists believe whole exome sequencing will become increasingly more common in clinical practice, as physicians attempt to discover the genetic mutations involved in diseases, and particularly in rare diseases that are difficult to diagnose.

"Whole exome sequencing is revolutionizing personalized medicine," says Stephen Warren, PhD, professor and chair of the Department of Human Genetics in Emory University School of Medicine. "This is the kind of targeted and personalized approach we have been working toward ever since the first sequencing of the human genome."

Emory Genetics Laboratory offers four distinct services for Medical EmExome testing:

  • Medical EmExome, Family Trios: full-service exome sequencing for the proband and two family members. It includes mitochondrial genome sequencing, interpretation, and Sanger confirmation for reported variants, as well as the EmExome Boost Option, which allows clinicians to choose an EGL gene panel relevant to the patient's phenotype to ensure coverage of ALL exons and the detection of intragenic CNVs, at no additional cost.
  • Medical EmExome, Proband Only: includes exome and mitochondrial genome sequencing, interpretation, and Sanger confirmation for reported variants, as well as the EmExome Boost Option, which allows clinicians to choose an EGL gene panel relevant to the patient's phenotype to ensure coverage of ALL exons and the detection of intragenic CNVs, at no additional cost. 
  • Sanger confirmation and interpretation only of data from an outside laboratory
  • Interpretation only (exome or genome) of data from an outside laboratory

Why order exome sequencing from EGL?

  • New, lower pricing for Medical EmExome with EmExome Boost and improved turnaround times
  • EGL is an entity of the Department of Human Genetics at Emory University School of Medicine
  • EGL provides a fully integrated laboratory setting with biochemical, cytogenetics, and molecular laboratories, for any follow-up testing needed
  • EGL is one of only a few clinical diagnostic laboratories to openly share data with the National Center for Biotechnology Information (NCBI) freely available public database ClinVar (>5000 variants on >500 genes) and is also the only laboratory with a free online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants
  • Sample shipping kits, including pre-paid postage, are available at no cost. To order a kit, first register at www.geneticslab.emory.edu/Registration and then complete a simple online form