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Pediatric Genetic Disease Contributes Disproportionately to Healthcare Costs

NEW YORK (GenomeWeb) – Patients with suspected pediatric genetic diagnoses contribute disproportionately to healthcare costs in the US, according to a new analysis from Illumina researchers.

Pediatric patients thought to have genetic conditions oftentimes undergo diagnostic odysseys that can last years, with each test contributing to the cost of their care.

Researchers led by Illumina's Ryan Taft sought to examine the economic effect of genetic testing of pediatric patients. They drew upon data from the Kids' Inpatient Database (KID) and used diagnostic codes as a proxy for genetic conditions, which they connected with associated healthcare charges and costs. As they reported in Genetics in Medicine this week, the researchers found that aggregate total charges for pediatric patients thought to have genetic diseases accounts for between 11 percent and 46 percent of all pediatric healthcare costs.

"Investigation of these patients' healthcare utilization shows that they require disproportionate resources for their care and highlights the potential for earlier molecular diagnosis to relieve some of the economic burden through reduction in iterative diagnostic approaches and improved targeted interventions," the authors wrote in their paper.

From KID — a national, all-payor database — the researchers amassed more than 3.1 million records for children under the age of 18, representing 5.85 million hospital discharges in 2012. Of these, between 2.6 percent and 14 percent were of patients with suspected genetic diseases.

The researchers relied on ICD-9-CM diagnostic codes from within those records to determine whether a genetic disorder might be present. They identified 919 diagnostic codes that clearly indicated a genetic disorder — such as cystic fibrosis — or that likely or possibly indicated a genetic disorder — such as neonatal intractable epilepsy or cardiac malformations.

Overall, the researchers found that patients suspected to have a genetic disorder were more likely to undergo additional surgical procedures, stay in the hospital longer, and have higher mortality rates than the rest of the pediatric patient population.

That, the researchers reported, translates into higher healthcare costs and charges.

Pediatric patients whose primary diagnosis was associated with a genetic disorder had total costs that averaged $16,587 higher than other pediatric patients.

Costs increased, the researchers noted, with each additional diagnostic code associated with a disease — a mean incremental cost of about $13,999 per code.

The costs, though, varied by disease type, according to the analysis. Diagnostic codes associated with congenital anomalies had the largest aggregate cost, coming in at between $1.4 billion and $8.1 billion for neonates and between $2.3 billion and $5.0 billion for other pediatric patients. At the same time, respiratory-system-linked codes had an aggregate cost of between $7.5 million and $37.5 million.

In all, the researchers noted that the aggregate total charges for all pediatric hospital discharges in the US in 2012 tallied just more than $124 billion.

Aggregate total charges for genetic disease-linked codes, though, represented between $14 billion and $57 billion. This means that even though the genetic disease population makes up about 1.6 percent to 14 percent of all discharges, they make up between 11 percent and 46 percent of all aggregate total charges.

This suggested to the researchers that earlier diagnosis of disease could lead to cost savings.

"Children who present clinically with indications of GD have a large economic impact on the national healthcare system," the Illumina team wrote in their paper. "Improved physician awareness and earlier diagnosis, particularly with comprehensive genetic testing approaches, may serve to significantly reduce costs associated with an otherwise lengthy diagnostic odyssey in pediatric GD patients. "