# Experiences and Outcomes in Early Adopters of Predispositional Sequencing

> **NIH NIH R01** · BRIGHAM AND WOMEN'S HOSPITAL · 2020 · $800,000

## Abstract

PROJECT SUMMARY/ABSTRACT
 The potential of genomic sequencing (GS) promises a new era of precision medicine in which
sequence information from healthy individuals can anticipate and prevent disease. At present, both the benefits
and harms of genomic sequencing conducted without indication are largely hypothetical. In this uncertain
environment, several thousand individuals have already had predispositional personal genome sequencing
(PPGS) through academic research projects or commercial services, and many thousands more are projected
to do so soon. The majority of these individuals are apparently healthy and would otherwise not receive GS
due to lack of medical necessity, but there is growing interest and activity in sequencing for non-diagnostic
purposes to enhance disease prevention and health management. Early adopters constitute a unique cohort of
individuals that are worthy of study before such testing becomes widespread. We have gathered a number of
these projects into a research consortium and piloted a web-based survey to better understand the medical,
behavioral and economic impacts of sequencing adults without indication. To date, nearly 1,400 individuals
have been invited to participate in our Personal Genome Sequencing Outcomes (PeopleSeq) Consortium, with
approximately 50% of individuals contacted enrolling in this preliminary study. A total of 658 individuals have
completed this preliminary survey after having their PPGS results disclosed, and we aim to add an additional
2,400 participants by partnering with new sequencing groups.
 In this proposal, we present a plan and methodology to build upon our project’s foundation. We will
expand the opportunity to volunteer for sequencing to include potential participants from underrepresented
minorities by offering educational programs that include sequencing at several Historically Black institutions.
We will conduct web-based surveys over time and incorporate a mixed-methods approach by including
qualitative interviews among selected individuals. As the first longitudinal cohort study of mostly generally
healthy adults who receive PPGS, we will extensively evaluate the proposed risks and benefits of PPGS,
including short- and long-term impacts on healthcare utilization, psychological impact, and health-related
outcomes. We will determine what kinds of follow-up clinical care were obtained (and how it was covered
financially), and assess whether it was medically beneficial. Findings from our study will inform preparations in
the healthcare system as more individuals seek out and react to DNA sequencing. In addition, we will collect
actual genomic reports on consenting participants and will characterize the number and nature of clinically
significant findings. We will combine this genomic information with survey data about follow-up actions to
explore the potential of PPGS to provide clinically useful information that can assist in prevention and health
management.

## Key facts

- **NIH application ID:** 9980970
- **Project number:** 5R01HG009922-03
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** Robert C. Green
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $800,000
- **Award type:** 5
- **Project period:** 2018-09-21 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9980970

## Citation

> US National Institutes of Health, RePORTER application 9980970, Experiences and Outcomes in Early Adopters of Predispositional Sequencing (5R01HG009922-03). Retrieved via AI Analytics 2026-06-10 from https://api.ai-analytics.org/grant/nih/9980970. Licensed CC0.

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