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Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
Peter Benn1, Sushma Iyengar2, Terrence Blaine Crowley3
1University of Connecticut Health Center, Farmington, Connecticut.
Insights
The 22q11.2 deletion syndrome incurs substantial medical costs, averaging $727,178 per patient by age 20. Early diagnosis, particularly prenatal, significantly increases these expenditures.
Area of Science:
- Genetics
- Medical Economics
- Pediatric Health
Background:
- 22q11.2 deletion syndrome presents with highly variable phenotypes.
- Associated conditions include cardiac defects, palate abnormalities, immunodeficiency, and hypocalcemia.
- Phenotypic variability has prevented prior estimation of average medical costs.
Purpose of the Study:
- To develop a model for estimating the total medical cost of 22q11.2 deletion syndrome from diagnosis to age 20.
- To quantify the average medical expenditure for affected individuals.
- To identify factors associated with higher medical costs.
Main Methods:
- A cost model was developed using billed medical charges from a specialty center.
- Data included patients diagnosed with DiGeorge or velocardiofacial syndrome between 1993 and 2015.
- Expenditures encompassed prenatal care, diagnosis, consultations, and treatments, excluding most therapies and non-medical costs.
Main Results:
- The average medical cost for a patient was $727,178.
- Costs were substantially higher for those diagnosed prenatally ($2,599,955) or in the first year of life ($1,043,096).
- Patients with cardiac abnormalities ($751,535) and low T-cell counts ($1,382,222) also incurred higher costs.
Conclusions:
- 22q11.2 deletion syndrome is associated with significant medical costs.
- Early diagnosis and specific medical complications drive higher expenditures.
- Understanding these costs is crucial for resource allocation and patient management.
Background:
The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case.
Methods:
We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities. Expense was based on billed medical charges extracted from the electronic medical billing system for all patients with a diagnosis of DiGeorge or velocardiofacial syndrome from 1993-2015. Expenditures included maternal prenatal care directly related to an affected pregnancy, molecular/cytogenetic diagnosis, consultations, surgery, and/or other treatment and management. Most mental health services (except inpatient), therapy related to cognitive, behavioral, speech, pharmacy, and nonmedical costs (special education, vocational, respite, lost earnings) were not included.
Results:
Data were available for 642 patients with 50.7% diagnosed prenatally or in the first year of life. The average cost for a patient was $727,178. Costs were highest for patients ascertained prenatally ($2,599,955) or in the first year of life ($1,043,096), those with cardiac abnormalities or referred for cardiac evaluation ($751,535), and patients with low T-cell counts ($1,382,222).
Conclusion:
This study demonstrates that there are significant medical costs associated with 22q11.2 deletion syndrome.
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