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

Trial Summary

What is the purpose of this trial?

Many conditions affecting health are caused by a combination of environment, behaviors, and genes. While individuals can alter some factors in their lives to reduce the chances of developing different diseases (e.g., not smoking cigarettes), the contribution from genetic risk encoded by DNA remains with people throughout their lives. Scientists are still trying to determine the entirety of genetic factors that influence disease, but for some conditions it has been shown that the factors identified thus far can begin to identify people at high to low genetic risk. Looking across the genome, scientists can calculate a cumulative genetic risk score - which can be used to rank genetic risk compared to other worldwide populations. 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 genetic risk score is calculated for coronary heart disease (CAD). CAD ultimately leads to heart attacks, heart failure and sometimes sudden cardiac death and is the main reason heart disease remains as the number one cause of death worldwide. Other researchers have shown that this genetic risk score can be used to identify people with low, intermediate, and high risk for coronary heart disease. It has also been shown that the use of statins (cholesterol lowering drugs) provides greater benefit and protection against heart attack for people with high genetic risk for coronary artery disease. Leveraging the Apple ResearchKit and the ResearchKit linked 23andMe API, customers of 23andMe are able to provide researchers access to their genomic data. Participants will use the ResearchKit app to provide consent, view study information, answer surveys, and contact the study team. Participants will be asked to complete 3 surveys. One before viewing genetic risk scores, one immediately after viewing scores, and one 6 months after viewing scores.

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 data supports the effectiveness of the treatment MyGeneRank Digital Platform for heart disease?

Research shows that using the MyGeneRank app to communicate genetic risk scores for heart disease led to more people starting treatments to lower cholesterol earlier, especially those with higher genetic risk. This suggests that the platform can motivate individuals to take preventive actions for heart health. ^{1 2 3 4 5}

Is the Genetic Risk Information Platform for Heart Disease safe for humans?

The research does not provide specific safety data for the Genetic Risk Information Platform for Heart Disease or its related platforms like MyGeneRank. However, genetic risk assessment tools are generally considered safe as they involve analyzing genetic information rather than administering a physical treatment. ^{1 6 7 8 9}

How does the Genetic Risk Information Platform for Heart Disease treatment differ from other treatments for heart disease?

This treatment is unique because it uses a digital platform to communicate personalized genetic risk scores for heart disease, encouraging earlier and more targeted use of lipid-lowering therapies based on individual genetic risk, unlike traditional treatments that do not incorporate genetic risk information. ^{1 2 10 11 12}

Eligibility Criteria

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

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

Treatment Details

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+

Findings from Research

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 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]

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]

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]

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]

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 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]

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]

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 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]

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]

References

1. Switzerland pubmed.ncbi.nlm.nih.gov

Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. [2020]

2. England pubmed.ncbi.nlm.nih.gov

Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study. [2022]

3. England pubmed.ncbi.nlm.nih.gov

Patient-facing digital tools for delivering genetic services: a systematic review. [2023]

4. England pubmed.ncbi.nlm.nih.gov

Precision Cardiovascular Medicine: State of Genetic Testing. [2022]

5. United States pubmed.ncbi.nlm.nih.gov

Assessment of Patient Knowledge and Perceptions of Pharmacogenomics Before and After Using a Mock Results Patient Web Portal. [2021]

6. United States 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. [2023]

7. England pubmed.ncbi.nlm.nih.gov

Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets. [2021]

8. Switzerland pubmed.ncbi.nlm.nih.gov

Clinicians' Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa. [2023]

9. United States pubmed.ncbi.nlm.nih.gov

The Interface of Therapeutics and Genomics in Cardiovascular Medicine. [2023]

10. Switzerland pubmed.ncbi.nlm.nih.gov

A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study. [2021]

11. Germany pubmed.ncbi.nlm.nih.gov

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality. [2022]

12. United States pubmed.ncbi.nlm.nih.gov

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families. [2023]