Mantej Singh
Mantej Singh
Helios Scholar
School: Barrett, The Honors College at Arizona State University
Hometown: Phoenix, Arizona
Daily Mentor: Amy Stouffer; Wayne Jepsen, PhD
PI: Stephanie Buchholtz, PhD

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A pathway to implement genomic research discoveries in the clinical setting: the role of economics, ethics, and quality excellence in improving translational genomics

Despite recent advancements in genomics/precision medicine and the resulting emergence of P4 medicine (predictive, preventative, personalized, participatory), the need for a comprehensive and integrative framework for translating findings obtained from genomic research into meaningful clinical contributions remains imperative. This need is only reinforced by the latest sequencing technologies, including whole-genome sequencing (WGS). WGS enables researchers to capture and analyze the entire human genome, comprising approximately 3 billion DNA nucleotide base pairs. WGS marks a significant departure from targeted, single-gene analyses, and its extensive scope raises serious ethical questions. The potential of WGS to help clinicians more precisely diagnose, prognosticate, and treat various cancers, neurological diseases, and other genetically attributable conditions places it at the heart of ongoing translational genomics research. The race to adapt WGS and other breakthrough sequencing technologies for clinical use has the potential to overlook important ethical, economic, and quality implications associated with their successful integration into routine medical practice to benefit the broader community. The primary aims of this review include synthesizing the existing literature relevant to those three pillars, exploring their role in genomic medicine improvement, and conceiving a model grounded in biomedical ethics, economics, and quality management to strengthen the bench-to-bedside pipeline moving forward. The result of this review culminated in the establishment of the Translational Triangle framework. With the assistance of the Translational Triangle framework, a series of concrete and actionable steps can be adopted by principal investigators and clinical laboratorians alike. Such strategies focus on building public faith and trust in the research and clinical enterprises through effective translational processes that are ethically sound, economical, and of consistent, reliable quality.