Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program

Area of Science:

• Genetics
• Pediatric Medicine
• Health Economics

Background:

• Genetic disorders in children often require extensive diagnostic workups.
• Diagnostic sequencing offers a powerful tool for identifying genetic etiologies.
• Understanding the clinical and economic impact of returning these results is crucial.

Purpose of the Study:

• To evaluate the effect of returning diagnostic sequencing results on clinical actions and economic outcomes.
• To assess impacts on pediatric patients with suspected genetic disorders.

Main Methods:

• Utilized longitudinal physician claims data for patients aged 0-21 with suspected genetic disorders.
• Assessed specialist consultation rates and 18-month physician services and costs post-sequencing.
• Included patients with neurologic, cardiac, and immunologic conditions.

Main Results:

• Positive findings (72%) were more likely to prompt specialist consultation recommendations than uncertain (23%) or negative (21%) findings.
• Only 30% of recommended consultations occurred.
• No significant increases in downstream physician services or costs were observed after multivariable adjustment for positive or uncertain findings.

Conclusions:

• Returning diagnostic sequencing results did not lead to significant increases in downstream healthcare utilization or costs.
• Findings suggest that genetic sequencing may be cost-effective in this pediatric population.
• Further large-scale longitudinal studies are warranted to validate these economic and clinical outcome findings.