FAQ

What is polygenic risk?

Polygenic risk refers to the combined effect of several genes on an individual's chance of developing a particular disease or acquiring a particular trait. Unlike monogenic diseases, which are caused by a mutation in a single gene, polygenic diseases and traits are the result of the interaction of multiple genes, where each gene makes a small contribution.

What is the Polygenic Risk Score (PRS)?

PRS is a numerical value that quantifies an individual's genetic predisposition to a particular trait or disease based on the sum of risk gene variants (alleles) taking into account the effect sizes of these alleles. PRS is calculated using data from genome-wide genetic association studies (GWAS), which identify the most common genetic variants associated with specific traits.

What is the application of polygenic risk number?

PRS can help predict the risk of developing complex diseases such as heart disease, diabetes and certain types of cancer. PRS can be applied in personalized medicine to tailor therapy and preventive measures based on an individual's genetic risk.

What diseases or conditions can the PRS predict?

The calculator can provide PRS for various common diseases such as cardiovascular disease, diabetes, cancer (e.g., breast or prostate cancer), Alzheimer’s disease, autoimmune diseases, and more. Check the full list of available conditions on our platform, as we continuously add new diseases based on updated research.

How accurate are polygenic risk scores?

Polygenic risk scores are based on statistical models and population data. While they provide useful insights into genetic predispositions, they are not definitive predictions. Environmental factors, lifestyle, and family history also play a significant role in disease risk.

How does the calculator work?

The calculator analyzes your uploaded genome file (in formats like VCF or 23andMe’s raw data) and applies a scientifically validated algorithm to calculate your polygenic risk score for the selected conditions. It compares your genetic variants to a reference population to provide an estimate of your relative risk.

Are there any fees for using the polygenic risk calculator?

The use of our platform is free of charge, but credits are required for analysis.

How does the credit system work?

Our platform uses a credit-based system to perform genetic risk analyses. Each disease or condition has a specific credit cost associated with it. For example, calculating your polygenic risk for the diseases included in the Introductory package may cost 10 credits. Your available balance will decrease as you perform computations, and you can top up credits upon request. You can view the credit cost for each condition before starting the analysis.

How do I upload my genetic data?

Once you’ve logged into the web portal, you can upload your genome data through the file upload option. The portal accepts raw genetic data from popular DNA testing services (like 23andMe, AncestryDNA) or VCF files from genome sequencing.

What types of genetic data files are accepted?

We accept the following file types:

  • VCF (Variant Call Format)
  • 23andMe raw data
  • AncestryDNA raw data
  • Other raw data files from similar providers

Make sure your file is unzipped before uploading.

What if I don’t have genetic data?

If you haven’t had your genome sequenced yet, you can use services like 23andMe or AncestryDNA to obtain your genetic data or participate in our study which provides genome data free of charge. Once you have the raw data, you can upload it to our portal.

How long does it take to get my results?

Once you’ve uploaded your data, the processing usually takes a few minutes to an hour depending on the file size and the number of conditions being calculated. You will receive an email notification once your results are ready.

Is my genetic data safe?

We prioritize your privacy and the security of your genetic data. All uploaded files are encrypted, and we do not share your data with any third parties without your consent. For more details, review our Privacy Policy.

Can I update my genetic data or run the calculator again for new diseases?

Yes, you can re-upload new genetic data and calculate scores for new conditions as we update the calculator. Any updates to the diseases we cover will be available in your dashboard.

Can I delete my data after using the calculator?

After calculations are done, your genetic information is deleted from the portal. Additionally, you can request to delete your account at any time by contacting customer support. Once deleted, your data will no longer be accessible on our platform.

How should I interpret my risk score?

Your polygenic risk score will give you a relative risk compared to the general population. For example, a score of 2 means you may be twice as likely as the average person to develop the condition. It’s important to note that a higher score doesn’t guarantee that you will develop the disease, just as a low score doesn’t guarantee you won’t.

Can I share my PRS results with my doctor?

Yes, your results are downloadable and shareable in a report format that you can bring to your healthcare provider for further discussion. Keep in mind that polygenic risk scores are one piece of the puzzle in understanding your health, and your doctor can help you interpret the results in a broader context.

What should I do if I receive a high-risk score for a disease?

If your PRS indicates an elevated risk for a particular disease, it’s a good idea to consult with a healthcare professional to discuss proactive measures, further screening, or lifestyle changes. Polygenic risk scores are just one aspect of risk, and your doctor can help you assess the complete picture.

Is the polygenic risk score the same as a genetic test?

No, a PRS is not the same as a genetic test for single-gene mutations like BRCA1/BRCA2 for breast cancer. PRS looks at many genetic variants with small effects, while genetic tests for monogenic diseases focus on specific, high-impact mutations.

Can I use the PRS if I have a family history of a particular disease?

Yes, even if you have a family history of a disease, your PRS can help give you additional context about your genetic risk, although family history and environmental factors will still play a major role in your overall risk profile.

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