1076 Participants Needed

Polygenic Risk Score Testing for High Genetic Risk of Diseases

(GenoVA Trial)

JL
Overseen ByJason L. Vassy, MD, MPH, SM
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Approved in 2 JurisdictionsThis treatment is already approved in other countries

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators for more details.

What data supports the effectiveness of the treatment Polygenic Risk Score Testing for High Genetic Risk of Diseases?

Research shows that polygenic risk scores (PRS) can help predict the risk of complex diseases like heart disease, diabetes, and cancer by combining genetic information. While PRSs are increasingly used in clinical settings, their effectiveness is still being evaluated, and they are not yet widely adopted in routine clinical practice.12345

Is polygenic risk score testing safe for humans?

There is no specific safety data available for polygenic risk score testing, as it is primarily a tool for predicting genetic risk rather than a treatment. It is used to guide healthcare decisions and does not involve any direct intervention in the body.23567

How is the polygenic risk score treatment different from other treatments for genetic risk of diseases?

Polygenic risk score (PRS) treatment is unique because it uses a person's genetic information to estimate their risk for complex diseases by analyzing thousands of genetic variants, unlike traditional treatments that may not consider genetic factors. This approach can help tailor healthcare decisions based on an individual's genetic susceptibility, offering a more personalized strategy compared to standard treatments.12389

What is the purpose of this trial?

This trial will determine the clinical effectiveness of polygenic risk score testing among patients at high genetic risk for at least one of six diseases (coronary artery disease, atrial fibrillation, type 2 diabetes mellitus, colorectal cancer, breast cancer, or prostate cancer), measured by time-to-diagnosis of prevalent or incident disease over 24 months.

Research Team

JL

Jason L. Vassy, MD, MPH, SM

Principal Investigator

Harvard Medical School (HMS and HSDM)

Eligibility Criteria

This trial is for individuals aged 50-70 who have a high genetic risk but no current diagnosis of coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer, or prostate cancer. Pregnant individuals, those incarcerated or institutionalized, and anyone with a known diagnosis of these diseases cannot participate.

Inclusion Criteria

I do not have a history of heart disease, irregular heartbeat, diabetes, or cancer.
I have no history of heart disease, diabetes, or certain cancers.
I am between 50 and 70 years old.

Exclusion Criteria

I have been diagnosed with one of the six specified diseases.
Pregnancy
You are currently in jail or a mental health facility.
See 1 more

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Baseline Assessment

Participants and providers receive PRS results and educational resources

1 week
1 visit (in-person)

Observation

Participants are monitored for changes in clinical management and time-to-diagnosis of diseases

24 months
Regular follow-ups as per study protocol

Follow-up

Participants are monitored for safety and effectiveness after the main observation period

4 weeks

Treatment Details

Interventions

  • Polygenic risk score (PRS)
Trial Overview The study is testing the effectiveness of polygenic risk score (PRS) testing in predicting the development of six different diseases over two years. It aims to see if PRS can help identify these conditions earlier among people at high genetic risk.
Participant Groups
4Treatment groups
Experimental Treatment
Active Control
Group I: Polygenic risk score (PRS) - high risk stratumExperimental Treatment1 Intervention
Patient-participants in the PRS-high arm and their providers will receive their high-PRS results at baseline, along with educational resources about the results.
Group II: Polygenic risk score (PRS) - average risk stratumExperimental Treatment1 Intervention
Patient-participants in the PRS-average arm and their providers will receive their average-PRS results at baseline, along with educational resources about the results.
Group III: Usual care (UC) - high risk stratumActive Control1 Intervention
Patient-participants in the UC-high arm and their providers will receive their high-PRS results after a 24-month observation period, along with educational resources about the results.
Group IV: Usual care (UC) - average risk stratumActive Control1 Intervention
Patient-participants in the UC-average arm and their providers will receive their average-PRS results after a 24-month observation period, along with educational resources about the results..

Polygenic risk score (PRS) is already approved in United States, European Union for the following indications:

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Approved in United States as Polygenic Risk Score for:
  • Coronary artery disease
  • Atrial fibrillation
  • Type 2 diabetes mellitus
  • Colorectal cancer
  • Breast cancer
  • Prostate cancer
๐Ÿ‡ช๐Ÿ‡บ
Approved in European Union as Polygenic Risk Score for:
  • Cardiovascular diseases
  • Diabetes
  • Cancer risk assessment

Find a Clinic Near You

Who Is Running the Clinical Trial?

Harvard Medical School

Lead Sponsor

Trials
30
Recruited
40,700+

Harvard Medical School (HMS and HSDM)

Lead Sponsor

Trials
208
Recruited
1,421,000+

Boston VA Research Institute, Inc.

Lead Sponsor

Trials
24
Recruited
10,800+

VA Boston Healthcare System

Collaborator

Trials
73
Recruited
971,000+

Findings from Research

Polygenic risk scores (PRSs) are increasingly being used in clinical settings to estimate the risk of multifactorial diseases like heart disease, diabetes, and cancer, based on genetic variations identified through genome-wide association studies (GWAS).
The effectiveness of PRSs is influenced by the methodology of the GWAS and the ethnic characteristics of the study population, highlighting the importance of combining genetic risk assessments with clinical and demographic factors for a more comprehensive understanding of disease risk.
The emerging field of polygenic risk scores and perspective for use in clinical care.Yanes, T., McInerney-Leo, AM., Law, MH., et al.[2021]
In a study of 4,189 Hispanic/Latino older adults, a combined Polygenic Risk Score (PRS) for Alzheimer's Disease (AD) was significantly associated with Mild Cognitive Impairment (MCI), indicating that genetic risk factors can help predict cognitive decline.
The association between the PRS and MCI was stronger when including genetic variants from the APOE region, suggesting that other APOE-related variants may play a crucial role in predicting MCI in this population, despite classic APOE alleles not being linked to MCI.
A polygenic risk score for Alzheimer's disease constructed using APOE-region variants has stronger association than APOE alleles with mild cognitive impairment in Hispanic/Latino adults in the U.S.Sofer, T., Kurniansyah, N., Granot-Hershkovitz, E., et al.[2023]
Genotype imputation can introduce variability in polygenic risk scores (PRSs) at the individual level, but this variability is generally minor (less than 5 percentile rank change) and does not significantly affect score interpretation for most individuals.
The study suggests using deterministic imputation methods or averaging multiple stochastic imputation results to minimize fluctuations in PRS calculations, ensuring more stable and reliable genetic risk assessments for individuals.
Genotype imputation and variability in polygenic risk score estimation.Chen, SF., Dias, R., Evans, D., et al.[2022]

References

The emerging field of polygenic risk scores and perspective for use in clinical care. [2021]
A polygenic risk score for Alzheimer's disease constructed using APOE-region variants has stronger association than APOE alleles with mild cognitive impairment in Hispanic/Latino adults in the U.S. [2023]
Genotype imputation and variability in polygenic risk score estimation. [2022]
Polygenic risk scores: from research tools to clinical instruments. [2021]
Polygenic risk scores: An overview from bench to bedside for personalised medicine. [2023]
Generalisation of genomic findings and applications of polygenic risk scores. [2023]
Statistical genetics and polygenic risk score for precision medicine. [2021]
Could Polygenic Risk Scores Be Useful in Psychiatry?: A Review. [2022]
From Basic Science to Clinical Application of Polygenic Risk Scores: A Primer. [2022]
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