Houston, Texas – 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 catalog 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 for 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.