# Health Care Provider Responses to Receiving Unsolicited Genomic Results

> **NIH NIH R01** · BOSTON CHILDREN'S HOSPITAL · 2020 · $242,953

## Abstract

PROJECT SUMMARY
 Background: There is great interest in the implementation of genomic medicine, i.e., using genomic
information to inform patient care. As a result, patients with “medically actionable” (preventable and/or
treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of
screening in the absence of a clinically known condition. The identification of a previously unsuspected
medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to
prevent disease. However these results could place HCPs in the uncomfortable position of having to address
important results that they are not expecting, prepared, or equipped to integrate into patients' medical care,
which could lead to inappropriate decision-making and harm to patients. Significance: Understanding the
impact of unsolicited genomic results on HCPs and the actions they take is crucial to the successful
implementation of genomic medicine. Yet there is little knowledge of the benefits, concerns, and challenges
HCPs perceive when faced with unsolicited genomic results and whether they find such information useful in
patient care. Innovation: This study leverages the Electronic Medical Records and Genomics (eMERGE III)
Network where positive results (pathogenic or likely pathogenic variants) in ~100 “medically actionable genes”
sequenced in 22,500 biobank participants across the 9 eMERGE sites will be returned to participants and their
primary care and subspecialty HCPs, providing an unprecedented opportunity to assess the return of these
(mostly unsolicited) results in a large and diverse population of HCPs in a real-world setting. Methodology:
This is a mixed-methods study using surveys, interviews, and focus groups. Specific Aims: Aim 1 is to survey
primary care +/- subspecialty HCPs within one month after they receive an unsolicited positive genomic
sequencing result on a patient enrolled in eMERGE III to assess: 1a) HCPs' views regarding receiving these
results including 1) their readiness based on their genetic knowledge, experience, and training, 2) the clinical
utility, 3) the medical actionability, and 4) their care responsibilities versus those of other providers; and 1b)
HCPs' behaviors including 1) discussions with patients, 2) actions taken/planned, and 3) perceived barriers to
acting on the information. Aim 2 is to conduct in-depth qualitative interviews with subset of HCPs 6 months
after receiving an unsolicited positive genomic result to assess 1) actions taken, and 2) the ELSI of receiving
unsolicited results. For sites where negative reports are provided, we will assess HCPs' interpretation of
negative results and actions taken. Aim 3 is to make recommendations for the return of unsolicited genomic
results to HCPs and to conduct focus groups to vet the recommendations. Expected results: We expect to
make recommendations that will maximize the ability of HCPs to integrate the findings...

## Key facts

- **NIH application ID:** 9928458
- **Project number:** 5R01HG010004-03
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Ingrid Adele Holm
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $242,953
- **Award type:** 5
- **Project period:** 2018-07-01 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9928458

## Citation

> US National Institutes of Health, RePORTER application 9928458, Health Care Provider Responses to Receiving Unsolicited Genomic Results (5R01HG010004-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9928458. Licensed CC0.

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