Dataset Information

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

ABSTRACT: A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with AR inheritance pattern, 9 with AD and 2 that are X-linked. Fourteen of the found variants are novel. This study highlights the clinical utility of targeted NGS for sensorineural hearing loss. The optimal panel for HL must be designed according to the spectrum of the most represented genes in a given population and the laboratory capabilities considering the pressure on healthcare.

SUBMITTER: Garcia-Garcia G

PROVIDER: S-EPMC7762334 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

García-García Gema G Berzal-Serrano Alba A García-Díaz Piedad P Villanova-Aparisi Rebeca R Juárez-Rodríguez Sara S de Paula-Vernetta Carlos C Cavallé-Garrido Laura L Jaijo Teresa T Armengot-Carceller Miguel M Millán José M JM Aller Elena E

Genes 20201207 12

A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) respo ...[more]

PMID: 33297549

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Project description:BackgroundElectronic medical record-based interventions such as best practice alerts, or reminders, have been proposed to improve evidence-based medication prescribing. Formal implementation evaluation including long-term sustainment are not commonly reported. Preprocedural medication management is often a complex issue for patients taking antithrombotic medications.MethodsWe implemented a best practice alert (BPA) that recommended referral to an anticoagulation clinic before outpatient elective gastrointestinal (GI) endoscopies. Eligible patients were taking an oral anticoagulant (warfarin or direct oral anticoagulant [DOAC]) and/or antiplatelet medications. Patients referred to the anticoagulation clinic were compared to those managed by the ordering provider. Outcomes assessed included guideline-adherent drug management before endoscopy, documentation of a medication management plan, guideline-adherent rates of bridging for high-risk patients taking warfarin, and evaluation for sustained use of BPA.ResultsEighty percent of patients (553/691) were referred to the anticoagulation clinic during the initial 13-month study period. Most referrals came from gastroenterologists (397/553; 71.8%) followed by primary care providers (127/554; 22.9%). Patients referred had improved rates of guideline-adherent medication management compared to those who were not referred (97.4% vs 91.0%; P = .001). Documentation of medication plan was significantly higher in the referred group (99.1% vs 59.4%; P ≤ .001). There were no differences in rates of appropriate bridging for patients taking warfarin. Implementation of the BPA also resulted in sustained, consistent use over an additional 18 months following the initial study period.ConclusionImplementation of a BPA before elective outpatient GI endoscopies was associated with improved rates of guideline-adherent medication management and documented management plan, while streamlining preprocedural medication management.

Dataset Information

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

Publications

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

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