Genome Sequencing Can Help In Rapid Diagnosis in Critically Ill Infants

The rapid tests take about three to 7 days to diagnose the disease and render treatment possibilities.

Genetic diagnosis might help inform treatment decisions and disease management for seriously ill neonates in the neonatal intensive care unit (NICU).

Rapid whole-genome sequencing (WGS) of acutely ill neonatal intensive care unit (NICU) patients in the first few days of life yields clinically useful diagnoses in many cases, and results in lower aggregate costs than the current standard of care, according to findings presented at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla.

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‘Sequencing can pinpoint the cause of illness, yielding a diagnosis that allows doctors to modify inpatient treatment and improve the treatment outcomes in the long run.’

Shimul Chowdhury, PhD, FACMG, Clinical Laboratory Director at the Rady Children's Institute for Genomic Medicine, and his colleagues focused their analysis on a broad swath of NICU patients for whom a genetic diagnosis might help inform treatment decisions and disease management. They studied the clinical utility and cost-effectiveness of sequencing infants and their parents.

"Newborns often don't fit traditional methods of diagnosis, as they may present with non-specific symptoms or display different signs from older children," said Dr. Chowdhury.

In many such cases, he explained, sequencing can pinpoint the cause of illness, yielding a diagnosis that allows doctors to modify inpatient treatment and resulting in dramatically improved medical outcomes in both the short and long term.

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Because of the potential for early intervention and immediate adjustment in care, the researchers used a rapid WGS procedure that took three to seven days from sample collection to delivering results to patients' families. The process can be further accelerated if medically necessary. In contrast, most clinical diagnostic tests take four to six weeks.

In 34 (35%) of the 98 patients enrolled in the study, WGS yielded a genetic diagnosis, and in 28 (80%) of those patients, that diagnosis led to changes in medical management, such as the use of medications targeted to the underlying disease, avoidance of unnecessary surgery, and guidance about palliative care.

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Cost-effectiveness analyses are ongoing, but among the first 42 infants sequenced, the researchers calculated a $1.3 million net cost savings for that hospitalization versus the current standard of care.

"The cost savings were especially striking, given that sequencing costs are still high - even with those costs, we found that rapid WGS was not just clinically useful but economically prudent," Dr. Chowdhury said. "Given these benefits, we'd eventually like to see rapid WGS as a reimbursable first-tier test for a proportion of infants in the NICU."

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Dr. Chowdhury noted the important contribution of genetics research to their progress so far. "Translational research leading to improvements in the speed and accuracy of sequencing tests is so important to our work, and has a real impact on patients and their families," he said.

Source-Eurekalert