# Evaluating the Risks and Benefits of the Next Generation of Direct-to-Consumer Genetic Tests

> **NIH NIH K01** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2022 · $173,153

## Abstract

PROJECT SUMMARY/ABSTRACT
The declining cost of DNA sequencing, coupled with the public's growing interest in personal genomics, has
spurred the growth of direct-to-consumer (DTC) genetic testing for health risks. Today, several DTC companies
offer tests that include high- and moderate-penetrance genes that are associated with a significantly increased
risk of developing certain diseases. While the availability of these tests may benefit consumers by broadening
access to potentially life-saving genetic information, widespread access also poses physical and psychosocial
risks. Despite these risks, there is a lack of research on DTC genetic tests that have significant implications for
disease risk. But in order to evaluate the risks and benefits of current DTC offerings, a new approach to studying
DTC outcomes is critically needed. The reason is that, in the past, academic researchers partnered with
companies to study DTC outcomes. Today, DTC companies are less willing to partner with academics, instead
preferring to conduct their own research in-house. To meet this need, the proposed K01 Award will assess the
feasibility of and optimize a novel approach to studying DTC outcomes—the DTC Outcomes Evaluation
Paradigm. This paradigm is novel because it: (1) does not rely on partnering with a DTC company and (2) can
be used to study a wide range of current and future DTC tests and companies. To assess the feasibility of this
paradigm—while concurrently addressing the lack of data for DTC genetic tests that analyze high- and moderate-
penetrance disease susceptibility genes—the proposed K01 Award will recruit individuals to undergo a DTC
genetic test that sequences 60 cancer and cardiac disease susceptibility genes. The aims of the proposed
research are: Aim 1: To assess the feasibility of and optimize the DTC Outcomes Evaluation Paradigm for
studying real-world DTC outcomes. Aim 2: To obtain initial cognitive, affective, and behavioral short-term and
6-month data through four surveys taken by individuals undergoing a DTC genetic test for cancer and cardiac
disease susceptibility genes. Aim 3: To use semi-structured qualitative interviews to further understand
participants' experiences undergoing DTC genetic testing in order to identify novel constructs not captured by
quantitative instruments. The candidate's career goals are: (1) to pursue an academic career in the ELSI of
genetics and genomics by establishing an independent research program that incorporates quantitative and
qualitative research methods and conceptual analysis; (2) to publish high-impact scholarship that engages an
interdisciplinary audience of scholars, policy makers, and the general public; and (3) to inform public discourse
about genetic testing and develop evidence-based policy recommendations that promote the safe and ethical
use of DTC genetic tests. Throughout the K01 Award period, the candidate will, in conjunction with mentored
research, pursue formal coursework in research m...

## Key facts

- **NIH application ID:** 10492012
- **Project number:** 5K01HG010903-03
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** Madison K Kilbride
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $173,153
- **Award type:** 5
- **Project period:** 2020-09-01 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10492012

## Citation

> US National Institutes of Health, RePORTER application 10492012, Evaluating the Risks and Benefits of the Next Generation of Direct-to-Consumer Genetic Tests (5K01HG010903-03). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10492012. Licensed CC0.

---

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