# Health care system-led familial risk notification: design and ethical assessment

> **NIH NIH R01** · KAISER FOUNDATION RESEARCH INSTITUTE · 2020 · $494,633

## Abstract

PROJECT SUMMARY/ABSTRACT
BACKGROUND. Genetic testing has a multigenerational impact, as actionable pathogenic variants can
identify multiple family members at risk. Currently in the United States, a person at actionable risk through
genetic testing is responsible for contacting their own family members and communicating risk. However,
incomplete or non-disclosure to relatives is prevalent, and up to a third of at-risk relatives who may have
actionable genetic findings go un-notified. Despite preliminary data suggesting that genetic testing patients are
open to having their health system directly contact relatives who receive care in the same system to notify
them of their potential risk, how such outreach would work in practice is not well understood and represents a
critical gap.
METHODS. We will conduct a human-centered design and feasibility study of health system-led familial
outreach and risk notification. All project activities will be guided by ethical frameworks of learning healthcare
systems, clinical care, and public health, as well as by emerging scholarship on relational conceptualizations of
autonomy and clinicians' fiduciary obligations to patients and families in genetic services.
The first aim will use qualitative human centered design methods to ascertain the needs of patients, their
relatives, and clinical and health system stakeholders. We will conduct two rounds of design workshops using
future workshop and nominal group techniques with probands and their relatives; and finalize the design with
clinician and organizational stakeholders. The product of this aim will be a set of generalizable requirements for
use by ours and other health systems engaged in direct outreach to relatives.
In the second aim, we will test the outreach process in a limited prospective sample of relatives. We will
implement the workflow designed in Aim 1 with a prospective cohort of health system members receiving
actionable results from testing for BRCA1/2 or Lynch syndrome. We will identify each consenting proband's
genetic relatives who are members of the same health system. Consenting relatives will be randomly assigned
to either the outreach process designed in Aim 1, or to no further outreach. We will use the proband as the unit
of randomization to allow for clustering within family, and stratify randomization on BRCA or Lynch testing.
OUTCOME ASSESSMENT. Using a combination of in-depth cognitive interviews and survey, feasibility
outcomes assessed will include acceptability of the process, satisfaction with care and with treatment/testing
decisions, impact of direct outreach on family communications, actions taken after notification, and any
unintended consequences. We will assess limited efficacy of direct outreach in increasing use of genetic
counseling and testing in relatives who received direct outreach compared to those who did not at 6-8 weeks.

## Key facts

- **NIH application ID:** 9974558
- **Project number:** 5R01HG010144-03
- **Recipient organization:** KAISER FOUNDATION RESEARCH INSTITUTE
- **Principal Investigator:** Nora B. Henrikson
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $494,633
- **Award type:** 5
- **Project period:** 2018-09-20 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9974558

## Citation

> US National Institutes of Health, RePORTER application 9974558, Health care system-led familial risk notification: design and ethical assessment (5R01HG010144-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9974558. Licensed CC0.

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