Genetic Risk Information Platform for Heart Disease

Overseen By Jennifer Wagner, RN

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Scripps Translational Science Institute

Disqualifiers: Under 18 years old

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 3

100000 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to understand how knowing genetic risk for coronary heart disease (CHD) influences health decisions. It uses the MyGeneRank Digital Platform, which provides genetic risk scores to compare one's CHD risk with others. The study also examines whether people with higher genetic risk benefit more from taking statins, which are cholesterol-lowering drugs. Participants will complete surveys before and after viewing their genetic risk scores. The trial seeks 23andMe customers who use an Apple device. As an unphased trial, it offers participants a unique opportunity to contribute to groundbreaking research on genetic risk and health decisions.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What prior data suggests that this platform is safe for participants?

Research has shown that the MyGeneRank digital platform is being tested to determine how awareness of genetic risk for heart disease might influence lifestyle choices. The platform serves as a tool to provide information about genetic risk for coronary artery disease (CAD), not as a treatment. Since it does not involve medication or physical procedures, participants face no direct risk from using the platform.

The MyGeneRank app allows individuals with genetic data from 23andMe to receive an estimated genetic risk score for CAD. This app is considered safe because it primarily provides information without involving drugs or medical procedures. Therefore, participants can generally expect a low level of risk when using this platform. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Most treatments for heart disease focus on managing symptoms or modifying risk factors like cholesterol and blood pressure through medications and lifestyle changes. But the MyGeneRank Digital Platform is different because it uses genetic information to provide personalized risk assessments for heart disease. This platform analyzes your genetic data to offer insights into your heart health, potentially allowing for earlier interventions and more tailored treatment plans. Researchers are excited because this approach could lead to more precise and effective prevention strategies, shifting focus from generalized care to individualized health management.

What evidence suggests that the MyGeneRank Digital Platform is effective for assessing genetic risk for coronary heart disease?

Research shows that the MyGeneRank app can estimate genetic risk for coronary artery disease (CAD). This score identifies whether a person has a low, medium, or high risk for CAD. Studies have found that individuals with a high genetic risk score benefit more from taking statins, medications that lower cholesterol and help prevent heart attacks. The MyGeneRank platform uses this information to guide health decisions by displaying users' genetic risk. This approach aims to help people make informed choices to better manage their heart health. ^{2 6 7 8 9}

Are You a Good Fit for This Trial?

This trial is for adults who are customers of 23andMe and willing to share their genetic data. Participants must use an Apple mobile device to access the study app. The study aims at understanding how knowledge of one's genetic risk for coronary heart disease (CAD) affects health decisions.

Inclusion Criteria

I use an Apple mobile device.

I am a 23andMe customer and willing to share my data.

Exclusion Criteria

I am under 18 years old.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Survey Completion

Participants complete surveys to assess genetic risk perception and health decisions

6 months

3 surveys (1 before viewing scores, 1 immediately after, 1 at 6 months)

Follow-up

Participants are monitored for initiation of statin therapy and health decisions

6 months

What Are the Treatments Tested in This Trial?

Interventions

• MyGeneRank Digital Platform

Trial Overview

The MyGeneRank digital platform is being tested to see if knowing one's genetic risk score for heart disease influences lifestyle choices and medical decisions. It uses the ResearchKit app linked with 23andMe data, requiring participants to complete surveys before and after viewing their genetic risk scores.

Who Is Running the Clinical Trial?

Scripps Translational Science Institute

Lead Sponsor

Trials

53

Recruited

572,000+

Published Research Related to This Trial

A secure web portal was developed to communicate personalized genetic risk information to 3,177 Finnish individuals, allowing them to understand their genetic and absolute risk for future diseases.

The method utilizes polygenic risk scores, enabling individuals to take an active role in managing their health while providing healthcare professionals with a preventive tool for patient care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study. Marjonen, H., Marttila, M., Paajanen, T., et al.[2021]

The smartphone app MyGeneRank effectively communicated personal polygenic risk scores (PRS) for coronary artery disease (CAD), leading to a significant increase in the initiation of lipid-lowering therapy among participants with high CAD PRS (20% vs 7.9% for low CAD PRS).

Participants with high CAD PRS not only started lipid-lowering therapy earlier (average age 52 vs 65 for low CAD PRS) but also showed a higher overall usage of lipid-lowering medications at follow-up (42.4% vs 28.5%).

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study. Muse, ED., Chen, SF., Liu, S., et al.[2022]

In a study of 1121 patients with idiopathic dilated cardiomyopathy, Hispanic and Black participants demonstrated significantly lower knowledge of genome sequencing compared to White participants, indicating a potential barrier to understanding genetic factors in cardiovascular disease.

Trust in medical researchers was notably lower among Black participants, which was associated with their lower knowledge of genome sequencing, suggesting that improving trust could enhance educational efforts and participation in genetic research.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Knowledge of Genome Sequencing and Trust in Medical Researchers Among Patients of Different Racial and Ethnic Groups With Idiopathic Dilated Cardiomyopathy. Ni, H., Jordan, E., Cao, J., et al.[2023]

The YourPGx Portal effectively improved patient knowledge and perceptions of pharmacogenomic (PGx) testing, as evidenced by significant increases in post-test scores among participants after using the portal.

Participants expressed a strong desire for their healthcare providers to access their PGx test results and showed a willingness to share this information with family, indicating a positive reception towards integrating PGx testing into their healthcare.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Assessment of Patient Knowledge and Perceptions of Pharmacogenomics Before and After Using a Mock Results Patient Web Portal. Truong, TM., Lipschultz, E., Danahey, K., et al.[2021]

Providing a genetic risk score (GRS) for coronary artery disease (CAD) did not significantly improve low-density lipoprotein cholesterol (LDL-C) levels or adherence to risk-reducing strategies among participants, as shown in a study of 94 individuals over a 3-month follow-up.

However, participants with a higher GRS experienced modest improvements in weight loss and physical activity, suggesting that while the GRS did not broadly enhance outcomes, it may have specific motivational effects that warrant further investigation in larger studies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. Knowles, JW., Zarafshar, S., Pavlovic, A., et al.[2020]

The updated Color Data v2 database now includes genetic testing results from over 18,000 individuals, expanding its resources for studying hereditary cardiovascular conditions and polygenic risk scores for diseases like breast cancer and coronary artery disease.

This database also features clinical risk models for assessing cancer and heart disease risks, which can aid researchers in exploring genotype-phenotype correlations and advancing discoveries in population genomics.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets. Berger, MJ., Williams, HE., Barrett, R., et al.[2021]

The understanding of how genetic variations influence cardiovascular disease has significantly advanced in the past 15 years, highlighting the potential for precision medicine in improving patient care.

Despite the promise of genomics in managing cardiovascular diseases, challenges remain in implementing genomics-guided approaches due to the complexity of common diseases and a lack of familiarity among clinicians with genomic medicine.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Precision Cardiovascular Medicine: State of Genetic Testing. Giudicessi, JR., Kullo, IJ., Ackerman, MJ.[2022]

Pharmacogenomics is becoming increasingly important in cardiovascular medicine, particularly for personalizing treatments like warfarin dosing and antiplatelet therapy, but more real-world trials and economic studies are needed to fully implement these advancements.

There is a call for better guidance for healthcare providers on using genetic data in prescribing, as well as the development of user-friendly technology to manage complex pharmacogenomic information, to enhance patient care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The Interface of Therapeutics and Genomics in Cardiovascular Medicine. Magavern, EF., Kaski, JC., Turner, RM., et al.[2023]

A survey of 109 clinicians in Johannesburg revealed that fewer than 25% use clinical genetic testing for cardiovascular disease (CVD) risk stratification, highlighting a significant gap in the adoption of precision medicine despite its potential benefits.

Most clinicians (84%) viewed precision medicine positively, but barriers such as high costs and limited access to genetic services, along with a lack of genetics training, hinder its implementation in South Africa's public health system.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Clinicians' Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa. Kamp, M., Pain, O., May, A., et al.[2023]

A systematic review identified only 22 out of 754 mobile apps that met the criteria for educating users about genetic disorders, highlighting a significant gap in high-quality resources available to the public.

Most apps lacked formal evaluation and only 14% were affiliated with recognized medical organizations, indicating a need for better-designed, evidence-based apps to enhance genetic literacy and awareness of risks associated with consanguineous marriage.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality. Gasteiger, N., Vercell, A., Davies, A., et al.[2022]

The GUÍA web-based platform significantly improved parents' perceived understanding of genetic test results, with participants in the GUÍA arm reporting a 2.8 times higher understanding compared to standard care, based on a study involving 551 participants.

Hispanic/Latino(a) participants using GUÍA showed even greater benefits, with a 3.9 times higher perceived understanding and improved confidence in explaining results, highlighting the platform's effectiveness in diverse populations.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families. Suckiel, SA., Kelly, NR., Odgis, JA., et al.[2023]

A systematic review of 87 studies found that 84% reported positive outcomes for patients using digital genetics tools, enhancing knowledge, psychosocial well-being, and engagement in genetic service delivery.

Digital tools not only improved patient outcomes but also increased workflow efficiency for healthcare providers, suggesting they can effectively support patient-centered care in the growing demand for genetic services.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Patient-facing digital tools for delivering genetic services: a systematic review. Whiwon, L., Salma, S., Daniel, A., et al.[2023]

Citations

1.

trialx.com

trialx.com/clinical-trials/listings/279996/mygenerank-a-digital-platform-for-next-generation-genetic-studies/

A Digital Platform for Next-Generation Genetic Studies

The goal of this study is to determine how genetic risk influences health decisions and other things that can be controlled in life. The first ...

2.

scripps.edu

scripps.edu/news-and-events/press-room/2022/20220311-torkamani-mygenerank.html

Scripps Research develops a smartphone app to calculate ...

A Scripps Research team developed a smartphone app that can calculate users' genetic risk for coronary artery disease (CAD).

3.

pubmed.ncbi.nlm.nih.gov

pubmed.ncbi.nlm.nih.gov/35277577/

Impact of polygenic risk communication: an observational ...

We developed a smartphone application, MyGeneRank, to conduct a prospective observational cohort study (NCT03277365) involving the automated ...

4.

withpower.com

withpower.com/trial/phase-heart-diseases-8-2017-f9980

Genetic Risk Information Platform for Heart Disease

What data supports the effectiveness of the treatment MyGeneRank Digital Platform for heart disease? Research shows that using the MyGeneRank app to ...

5.

medrxiv.org

medrxiv.org/content/10.1101/2021.04.26.21256141v1.full.pdf

Response to Polygenic Risk: Results of the MyGeneRank ...

Predictive Accuracy of a Polygenic. Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease. JAMA. 2020 Feb. 18;323 ...

6.

clinicaltrials.gov

clinicaltrials.gov/study/NCT03277365

Study Details | NCT03277365 | MyGeneRank: A Digital ...

The first genetic risk score is calculated for coronary heart disease (CAD). CAD ultimately leads to heart attacks, heart failure and sometimes sudden cardiac ...

7.

scripps.edu

scripps.edu/news-and-events/press-room/2017/20171025MyGeneRank.html

New ResearchKit App from Scripps Research Looks at ...

The MyGeneRank app allows individuals with genetic data from 23andMe to obtain an estimated genetic risk score for coronary artery disease.

8.

scripps.edu

scripps.edu/science-and-medicine/translational-institute/translational-research/genomic-medicine/mygenerank/index.html

MyGeneRank

The goal of the MyGeneRank study is to determine how your genetic risk influences health decisions and other things that can be controlled in life.

9.

dicardiology.com

dicardiology.com/content/scripps-research-develops-smartphone-app-calculate-genetic-risk-heart-attack

Scripps Research Develops a Smartphone App to ...

March 22, 2022 – A Scripps Research team developed a smartphone app that can calculate users' genetic risk for coronary artery disease (CAD)—and ...