The University of Vermont Medical Center Inc.

Improving Lives Through Genome-Informed Medicine

Health care quality

Genetics drives 30% of a person’s health, but this information is underutilized; we are integrating genomic testing into routine medical care to improve people's lives.

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To learn more about – or provide significant funding to – this project, please contact Lever for Change.

Project Summary

Genetics drives 30% of a person’s overall health and clinical technology exists to sequence an individual’s genome. But this wealth of information is unused in current healthcare due to high costs and provider knowledge gaps. A small but rapidly growing knowledgebase supports genome usefulness and longer-term outcomes in clinical settings. The potential for life-changing, positive impact is great. The University of Vermont Medical Center (UVMMC), and partners, is safely integrating genome results into routine medical care at no cost to patients. Our processes are designed to ensure access for everyone, including historically marginalized groups and people with disabilities. We will assess the effectiveness of our implementation processes and scalability plans, and the value of genome-informed medicine for health outcomes and cost-effectiveness. We will be the first health system to integrate all medically useful genomic information into routine medical care for our patients, with assessment of the impact of this innovation.

Problem Statement

Completing the Human Genome Project in 2003 unlocked a door to improving the health and care of every human, regardless of where they live or how much money they have. It is now our responsibility to use this invaluable resource to improve individual and population health.Either first-hand or through the care of a loved one, most of us will be affected by (often undiagnosed) genetic disorders. Imagine the stress individuals and families face that could be resolved or prevented by access to genomic testing, as exemplified in these real-world examples:For 40 years, Greg had terrible, intermittent stomach pains and healed slowly from injuries. On a whim, Greg had his genome sequenced and found he has a known mutation for Familial Mediterranean Fever, an easily treatable disease. Greg’s symptoms largely resolved with treatment. Without genomics, blonde and blue-eyed Greg likely was never diagnosed because he does not look Mediterranean.A grandmother dies from dementia and her daughter develops dementia. After four years struggling to attain insurance approval, genetic testing shows she carries a known dementia mutation. From his genomic sequence, the grandson quickly learns he does not have the mutation, whereas his sister tests positive. She enrolls in a dementia research study, and remarkably learns that she is eligible for an upcoming preventive drug trial.Until we affordably and safely integrate genomics into routine medical care, opportunities will be missed for treatment, early disease detection, prevention, or participation in research to identify new, personalized therapies that can change lives.

Solution Overview

Integrating genomic testing into routine medical care can greatly improve the well-being and care for all people. We will know we are making progress by measuring the reach, effectiveness, adoption, implementation, and maintenance of our work, looking at outcomes for patients and providers, and measuring cost-effectiveness. The impact of our project will predominantly benefit our patients. We have the potential to unlock information that can guide the healthcare and life decisions of every individual, especially for disease prevention, early detection, diagnosis, treatment, and reproductive planning. Current medical practice only sees the tip of the iceberg of patient's disease risks. Genomic results will provide patients and providers with a more comprehensive view. Over five years, 50,000 patients will receive genomic test results. Of these, ~8,000 individuals will learn about genetic disorders and increased health risks with at least half offered preventive or treatment options, and ~40,000 individuals will learn of recessive genetic diseases they carry that could result in disease for their children, empowering partner testing and informed reproduction. All 50,000 could share their increased (or decreased) genetic health risks with family members who could learn they share similar risks and could seek genome-informed preventive care or treatment.The health impact of genomics can only be demonstrated within a regional health system and patient population. By demonstrating the benefits of genome-informed medicine within our population and healthcare system, and defining processes and tools for safe and effective implementation, we will enable broader adoption of genome-informed healthcare nationally and internationally.

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Project Funders

  • University of Vermont Medical Center 2013 - 2019
  • University of Vermont Department of Pathology and Laboratory Medicine

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