# BUILDING THE EVIDENCE BASE FOR APPROPRIATE AND EFFICIENT IMPLEMENTATION OF EMERGING GENOMIC TESTS FOR DISEASE MANAGEMENT AND SCREENING

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2022 · $937,434

## Abstract

Project Summary
Payer coverage and economic value continue to be critical factors in determining whether genomic medicine is
appropriately and efficiently implemented into clinical care and health policies. However, genomic tests are
now emerging that present particularly difficult challenges for coverage and value determinations because they
(a) will be used for screening and early detection in asymptomatic populations in addition to disease
management in patients with a condition, and (b) use less-transparent methods, such as algorithmic scores, to
establish linkages between genetic markers and disease.
Our objective is to assess payer coverage decisions and the economic value of two types of
emerging genomic tests for disease management and screening: cell-free DNA tests (cfDNA)
and tests based on polygenic risk scores (PRS). The Specific Aims are:
Aim 1: Examine which cfDNA and PRS tests are covered and why using (a) systematic evidence reviews of
payer coverage policies and (b) structured interviews with payers on how they consider evidence and make
coverage decisions.
Aim 2: Understand the economic value of cfDNA and PRS tests by taking a patient-centered approach,
addressing key methodological challenges, and identifying gaps in evidence.
Aim 3: Compare evidence needs for payer coverage (Aim 1) and economic value assessment (Aim 2) across
clinical scenarios and generalize our findings on evidence needs to other emerging clinical scenarios,
considering patient access and stakeholder perspectives.
This study will provide unique insights by examining multiple clinical scenarios and both coverage and
economic value. All Aims will be framed around the implications of our findings for patient access and
disparities and consideration of stakeholder perspectives within a rapidly changing health care policy and
delivery ecosystem. Study outcomes will identify key factors that determine positive coverage, what evidence is
needed and how it can be prioritized to develop appropriate coverage and value assessments, how patient-
centered and advanced modeling approaches can be applied across clinical scenarios, and how coverage and
value assessments can take into account patient access and disparities and diverse stakeholder perspectives.
Study findings will contribute to the overarching objectives of systematic development of practices and policies
that are appropriate, efficient, and equitable irrespective of whether the tests are covered or shown to have
economic value. Our findings will be useful across stakeholders and will facilitate the development of policies
and practices that will help patients have appropriate, efficient access to testing.

## Key facts

- **NIH application ID:** 10447733
- **Project number:** 5R01HG011792-02
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** KATHRYN A PHILLIPS
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $937,434
- **Award type:** 5
- **Project period:** 2021-07-08 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10447733

## Citation

> US National Institutes of Health, RePORTER application 10447733, BUILDING THE EVIDENCE BASE FOR APPROPRIATE AND EFFICIENT IMPLEMENTATION OF EMERGING GENOMIC TESTS FOR DISEASE MANAGEMENT AND SCREENING (5R01HG011792-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10447733. Licensed CC0.

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