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

ABSTRACT:

Purpose

To better understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders.

Methods

Longitudinal physician claims data after diagnostic sequencing were obtained for patients aged 0 to 21 years with neurologic, cardiac, and immunologic disorders with suspected genetic etiology. We assessed specialist consultation rates prompted by primary diagnostic results, as well as marginal effects on overall 18-month physician services and costs.

Results

We included data on 857 patients (median age: 9.6 years) with a median follow-up of 17.3 months after disclosure of diagnostic sequencing results. The likelihood of having ≥1 recommendation for specialist consultation in 155

SUBMITTER: Berkalieva A 

PROVIDER: S-EPMC10842442 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature