# Exome sequencing in Diverse Populations in Colorado & Oregon

> **NIH NIH U01** · KAISER FOUNDATION RESEARCH INSTITUTE · 2021 · $1,710,607

## Abstract

PROJECT SUMMARY/ABSTRACT: More research is needed to 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, the Cancer Health
Assessments Reaching Many (CHARM) project has recruited >60% racially, ethnically, and
socioeconomically diverse patients. The objective for CHARM 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 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 has been highly productive 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 have
engaged 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:** 10375996
- **Project number:** 3U01HG007292-08S1
- **Recipient organization:** KAISER FOUNDATION RESEARCH INSTITUTE
- **Principal Investigator:** Michael C Leo
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,710,607
- **Award type:** 3
- **Project period:** 2021-03-20 → 2023-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10375996

## Citation

> US National Institutes of Health, RePORTER application 10375996, Exome sequencing in Diverse Populations in Colorado & Oregon (3U01HG007292-08S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10375996. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*