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. 2024 Jan;26(1):101011.
doi: 10.1016/j.gim.2023.101011. Epub 2023 Oct 27.

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

Asem Berkalieva  1 , Nicole R Kelly  2 , Ashley Fisher  3 , Samuel F Hohmann  3 , Monisha Sebastin  2 , Miranda Di Biase  2 , Katherine E Bonini  4 , Priya Marathe  4 , Jacqueline A Odgis  4 , Sabrina A Suckiel  4 , Michelle A Ramos  5 , Rosamond Rhodes  6 , Noura S Abul-Husn  7 , John M Greally  8 , Carol R Horowitz  9 , Melissa P Wasserstein  2 , Eimear E Kenny  10 , Bruce D Gelb  11 , Bart S Ferket  12
Affiliations

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

Asem Berkalieva et al. Genet Med. 2024 Jan.

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 patients with positive findings was high (72%) vs 23% in 443 patients with uncertain findings and 21% in 259 patients with negative findings (P < .001). Follow-through consultation occurred in 30%. Increases in 18-month physician services and costs following a positive finding diminished after multivariable adjustment. Also, no significant differences between those with uncertain and negative findings were demonstrated.

Conclusion: Our study did not provide evidence for significant increases in downstream physician services and costs after returning positive or uncertain diagnostic sequencing findings. More large-scale longitudinal studies are needed to confirm these findings.

Keywords: Costs and cost analysis; Diagnostic sequencing; Genetic testing; Pediatrics; Physician services.

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Conflict of interest statement

Conflict of Interest Dr Kenny has received speaker honoraria from Illumina, 23andMe, Allelica, and Regeneron Pharmaceuticals, received research funding from Allelica, and serves as a scientific advisory board member for Encompass Biosciences, Overtone, and Galateo Bio. Dr Abul-Husn is an employee and equity holder of 23andMe; serves as a scientific advisory board member for Allelica; received personal fees from Genentech, Allelica, and 23andMe; received research funding from Akcea; and was previously employed by Regeneron Pharmaceuticals. All other authors declare they have no conflicts of interest to report. Ethics Declaration The NYCKidSeq and TeleKidseq studies were approved by the Icahn School of Medicine at Mount Sinai and the Albert Einstein College of Medicine Institutional Review Boards. Written informed consent was obtained from pediatric participants who were capable of providing (≥18 years of age and cognitively able) and all parent or legal guardian participants.

Figures

Figure 1:
Figure 1:
Predicted marginal effects of diagnostic sequencing results on service counts, encounter counts, and total payments Marginal means for each diagnostic sequencing result were estimated using linked physician claims data. Model 1: diagnostic results only. Model 2: model 1 + phenotype (GDD, Epilepsy, ASD), time to results disclosure, as well as pre-results disclosure total costs, and number of cardiac, neurologic, and other services. Model 3: model 2 + study site, study type, age, sex, race and ethnicity, insurance type, prior genetic testing. Model 4: model 3 + referral for medical specialist consultation. 95% CIs were calculated based on 500 bootstraps and the percentile method.
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