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Updated: Apr 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Only Economic Solutions Will Enable the Implementation of Genetic Sequencing in the Real World
Michael A Hoffer-Hawlik1,2, Sunil Kapur2,3, Roya Ghazinouri3
1School of Medicine, NYU Langone Health, New York University, New York, NY, USA.
Abstract:
Genetic sequencing offers providers the potential to identify underlying mechanistic drivers for disease causes, risk alleles, and genetically defined preventative and therapeutic interventions. Broad genotyping of common alleles can inform the management of a growing range of common chronic conditions. Results of genetic testing provide substantial value to not only the patient but also their entire extended family and the broader healthcare ecosystem. However, the interpretation, dissemination, and financing of genetic sequencing data represent significant barriers for efficient integration of genomic analysis into standard clinical workflows. Thus, the creation of infrastructure to enable system-wide integration down a gradient of clinical risk and associated value will enable an economically viable rollout of genomic medicine with subsequent addition of lower-risk and value deployments as costs fall. In this article, the authors have highlighted the key elements of an integrated approach that could be broadly applied in both acute medical settings and chronic disease management, which includes the entire extended family and relevant communities. We outline an operational framework and novel payment strategies to enable implementation of genomic medicine down a gradient of risk and value for stakeholders across the entire healthcare system, thereby leveraging findings from less common diseases to bridge existing provider and payer divisions.
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