Polygenic Risk Score (PRS) testing is an evolving field within genetics that offers valuable insights into an individual's chance for developing certain diseases based on their genetic architecture. It is a new clinical tool available to us.
In this article, we will explore what PRS testing is, its potential benefits, and important considerations to keep in mind.
What is Polygenic Risk Score Testing?
A Polygenic Risk Score is a numerical value that estimates an individual's predisposition to certain diseases based on the cumulative effect of multiple genetic variants in the worldwide populations. These common variants are identified through genome-wide association studies (GWAS) and can be associated with various health conditions.
Here is a list of common diseases for which polygenic scores can provide information to enhance understanding:
Type 2 Diabetes
High Blood Pressure
High body mass index (BMI)
High triglycerides
Low HDL cholesterol
Polygenic hypercholesterolemia
High lipoprotein (a)
Breast cancer
Colorectal cancer
Alzheimer’s disease
Early menopause
Osteoporosis
Stroke
One of the most well researched genetic risk scores involves the prediction of cardiovascular disease and as a rule, the higher the number of "variants" reported the better predictive accuracy of the test, meaning the higher the risk of disease. Variants represent a specific genetic sequence associated with a disease.
What Are The Benefits of PRS Testing?
1. Personalized Health Insights
PRS testing can provide personalized insights into your genetic risk prediction. By understanding your lifetime risk, you can make informed lifestyle and medical decisions tailored to your specific health profile.
2. Early Detection and Prevention
Individuals identified with a higher polygenic risk for specific conditions may benefit from proactive health measures, including more frequent screenings and preventive strategies or even considering starting medication treatment for such as in the case of cardiometabolic diseases. Early detection can significantly improve treatment outcomes.
3. Enhanced Decision-Making
For individuals with a family history of certain diseases, such as heart failure, cardiovascular events, increased risk of breast cancer, PRS testing can bring information to guide choices regarding lifestyle modifications, dietary changes, and other preventive interventions.
4. Impact on Family Planning
For prospective parents, PRS testing is a useful clinical tool because it can inform decisions around family planning by identifying potential hereditary genetic associations for their children. This knowledge can allow for discussions on genetic counseling or further testing.
5. Research and Development
PRS testing contributes to the broader field of genetics and medicine by aiding researchers and doctors in identifying links between genetic factors and complex diseases. This can potentially lead to new treatments, preventative measures, avoidance of avoid environmental risk factors and even future research.
Who Should Consider PRS Testing?
While PRS testing can be beneficial for many individuals, it is particularly useful for those:
With a strong family history of certain diseases.
Interested in understanding their genetic predisposition because genes & health are connected.
Looking to take proactive steps in their health management.
Involved in genetic studies for research.
The test is not diagnostic and not indicated for patients presenting with acute disease.
Important Considerations
1. Interpretation of Results
The interpretation of PRS association must be kept in mind that they do not determine certainty. They offer an absolute risk classification.
Your risk will be reported as follows:
Equal to individuals in the general PopulationÂ
Borderline
Intermediate
High
 A higher PRS score indicates increased risk, but it does not guarantee development of the condition. That's because human populations have complex traits and It’s crucial to understand the limitations and nuances involved. While our ancestry matters, environmental factors may also play a role in the manifestation of diseases to which we are predisposed. Other clinical risk factors can further influence if we manifest a disease or not. Our family history, age, gender, ethnicity and other health conditions represent just a sample of what factors that can further influence the manifestation of our genes if there are risk alleles we carry.
2. Psychological Impact
Receiving information about potential health risks can be psychologically challenging. Individuals may feel anxiety or stress regarding their results. It’s essential to approach PRS testing with the support of healthcare professionals.
3. Ethical Considerations
Ethical issues, such as genetic privacy and discrimination based on genetic information, are significant concerns in genetic testing. Awareness of these implications is critical for informed decision-making.
What Is The Right PRS Testing Service For Me?
When choosing the right Polygenic Risk Score (PRS) testing service, it's important to consider several key factors to ensure you select the most suitable option for your needs.
1. Disease Specificity: Â Different PRS tests target various diseases or health conditions. It's essential to assess your personal health interests or family genetic ancestry to find a test that aligns with your specific concerns. For instance, if you're particularly interested in evaluating your cardiovascular risk, seek out a PRS score that focuses specifically on that condition. Some tests may offer the flexibility to include multiple PRS scores in a single report at no additional cost.
2. Backed by Science: Research the scientific foundation behind the PRS test you're considering. Look for companies that can provide peer-reviewed studies validating their testing methods and outcomes for diagnostic accuracy. A strong scientific basis enhances the credibility and reliability of the risk scores you receive.
3. Comprehensive Reporting: Â Effective PRS testing should not only present risk scores but also provide a clinical utility and include explanatory information and actionable insights that allow you to make informed health decisions regarding your wellness.
4. Medical Collaboration: Investigate whether the testing service collaborates with healthcare professionals so that you can incorporate the results in your clinical care. Access to genetic counselors can greatly improve your understanding of the results and how to effectively navigate them.
5. Ethical Standards and Data Privacy: Ensure that the company follows stringent ethical guidelines concerning data privacy and user consent. It's crucial to be transparent about how your electronic health records including your genetic information will be used and shared in order to avoid any potential genetic liability.
Conclusion
Testing for Polygenic Risk Score can provide valuable information about your health. This innovative risk assessment tool is known for its predictive capabilities, offering insights into an individual's genetic predisposition for specific diseases. This knowledge can impact lifestyle decisions and motivate proactive healthcare measures.
It is crucial to seek guidance from healthcare providers and genetic counselors to review and understand the test findings, as well as to consider any necessary clinical interventions.
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