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Development of a Validated Interferon Score Using NanoString Technology.

ABSTRACT: Chronic elevation of interferon (IFN)-response genes (IRG) in a subset of patients with systemic immune-dysregulatory diseases, including the Mendelian Type-I IFN-mediated autoinflammatory diseases and some autoimmune diseases suggest a causative role of excessive IFN signaling in the disease pathogenesis and as target for treatment. We developed a 28-IFN response gene scoring system to calculate either a standardized or geomean score by customizing a NanoString assay to quantify the expression of putative IRGs. The gene targets were selected in patients with the IFN-mediated disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and an adult patient with chronic hepatitis C who received the first dose of pegylated interferon alpha-2a. The putative target genes were validated in patients with STING-associated vasculopathy with onset in infancy (SAVI), a monogenic autoinflammatory disease caused by gain-of-function mutations in TMEM173 that encodes the viral sensor stimulator of IFN genes (STING), and had low expression in clinically active patients with the monogenic IL-1-mediated autoinflammatory disease, neonatal-onset multisystem inflammatory disease (NOMID) and in healthy controls. The score calculation on the NanoString assay is rapid and showed high reproducibility and low intra-, and interassay variability. The utility of this 28-gene IFN score may be explored in the diagnosis of patients with presumed interferonopathies and as a biomarker to assess disease activity, long-term outcome, and treatment responses.

SUBMITTER: Kim H

PROVIDER: S-EPMC5963606 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Development of a Validated Interferon Score Using NanoString Technology.

Kim Hanna H de Jesus Adriana A AA Brooks Stephen R SR Liu Yin Y Huang Yan Y VanTries Rachel R Montealegre Sanchez Gina A GA Rotman Yaron Y Gadina Massimo M Goldbach-Mansky Raphaela R

Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 20180401 4

Chronic elevation of interferon (IFN)-response genes (IRG) in a subset of patients with systemic immune-dysregulatory diseases, including the Mendelian Type-I IFN-mediated autoinflammatory diseases and some autoimmune diseases suggest a causative role of excessive IFN signaling in the disease pathogenesis and as target for treatment. We developed a 28-IFN response gene scoring system to calculate either a standardized or geomean score by customizing a NanoString assay to quantify the expression ...[more]

PMID: 29638206

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Project description:BackgroundLess than 10% of the individuals seeking behavioral health care receive measurement-based care (MBC). Technology has the potential to implement MBC in a secure and efficient manner. To test this idea, a mobile health (mHealth) platform was developed with the goal of making MBC easier to deliver by clinicians and more accessible to patients within integrated behavioral health care. Data from over 3000 users of the mHealth platform were used to develop an output severity score, a robust screening measure for depression and anxiety.ObjectiveThe aim of this study is to compare severity scores with scores from validated assessments for depression and anxiety and scores from clinician review to evaluate the potential added value of this new measure.MethodsThe severity score uses patient-reported and passively collected data related to behavioral health on an mHealth platform. An artificial intelligence-derived algorithm was developed that condenses behavioral health data into a single, quantifiable measure for longitudinal tracking of an individual's depression and anxiety symptoms. Linear regression and Bland-Altman analyses were used to evaluate the relationships and differences between severity scores and Personal Health Questionnaire-9 (PHQ-9) or Generalized Anxiety Disorder-7 (GAD-7) scores from over 35,000 mHealth platform users. The severity score was also compared with a review by a panel of expert clinicians for a subset of 250 individuals.ResultsLinear regression results showed a strong correlation between the severity score and PHQ-9 (r=0.74; P<.001) and GAD-7 (r=0.80; P<.001) changes. A strong positive correlation was also found between the severity score and expert panel clinical review (r=0.80-0.84; P<.001). However, Bland-Altman analysis and the evaluation of outliers on regression analysis showed that the severity score was significantly different from the PHQ-9.ConclusionsClinicians can reliably use the mHealth severity score as a proxy measure for screening and monitoring behavioral health symptoms longitudinally. The severity score may identify at-risk individuals who are not identified by the PHQ-9. Further research is warranted to evaluate the sensitivity and specificity of the severity score.

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Development of a Validated Interferon Score Using NanoString Technology.

Publications

Development of a Validated Interferon Score Using NanoString Technology.

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