# Exome sequencing in Diverse Populations in Colorado & Oregon

> **NIH NIH U01** · KAISER FOUNDATION RESEARCH INSTITUTE · 2020 · $2,903,448

## Abstract

PROJECT SUMMARY/ABSTRACT: More research is needed identify approaches to improve how
patients and providers understand, communicate, and make choices about using exome sequencing to
guide health care decisions. These challenges are further compounded in populations with limited literacy or
other barriers to meaningfully understand or act upon results. To address these issues, this project will
recruit >60% racially, ethnically, and socioeconomically diverse patients. The proposed project is an
extension of our CSER1 project on carrier testing as both projects involve screening healthy people in
integrated health systems to allow the unique opportunity to evaluate downstream health care decisions.
Leveraging stakeholder input garnered through CSER1, the project objective is to implement a hereditary
cancer risk assessment program in healthy 18-50 year-olds in primary care settings within vertically
integrated health delivery systems (Kaiser Permanente) and a federal qualified health center (Denver Health)
and compare the impact of exome sequencing in 1100 patients to patients who seek usual care. The project
will focus on hereditary breast and ovarian cancer and Lynch syndrome, for which there are established
clinical recommendations for cancer prevention. We will assess: 1) exome sequencing implementation and
interpretation; 2) tailored interactions including a contextualized consent process, a novel decision aid for
selecting the optional categories of additional results, and a modified approach to results disclosure and
genetic counseling; 3) tools for medical interpreters (interactive web-based education) and primary care
providers (electronic heath management tool); 4) the clinical utility (healthcare utilization and adherence to
recommended care) and personal utility of primary and additional results from exome sequencing; 5) the
costs of the program; and 6) the ethical and policy implications of considering personal utility of genomic
information on decisions for health care coverage. This experienced team was highly productive in CSER1
and has the capability to successfully carry out the proposed research, with expertise in genetic
epidemiology, medical genetics, health communications, health informatics, economics, anthropology,
biostatistics, and bioethics. We will engage diverse stakeholders including patients, providers, and health
systems administrators in the design, implementation, and analyses and will employ ethnographic methods
to assess the research team activities. Our unique patient populations and integrated health information
systems will allow us to investigate relevance of exome sequencing on downstream health care utilization
and costs. The results of this project, which leverages an established clinical genetics paradigm, will provide
a model to address challenges in equity for access to exome sequencing among underserved and diverse
patients that can be applied to additional aspects of genomic medicine in the future.

## Key facts

- **NIH application ID:** 9935107
- **Project number:** 5U01HG007292-08
- **Recipient organization:** KAISER FOUNDATION RESEARCH INSTITUTE
- **Principal Investigator:** Michael C Leo
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $2,903,448
- **Award type:** 5
- **Project period:** 2013-06-14 → 2023-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9935107

## Citation

> US National Institutes of Health, RePORTER application 9935107, Exome sequencing in Diverse Populations in Colorado & Oregon (5U01HG007292-08). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/9935107. Licensed CC0.

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