The PRS tests are molecular blood tests that use cutting-edge technology (known as genotyping analysis) to check the existence of hundreds to millions of genomic variants in your DNA, which cumulatively significantly increase the risk of developing not just a rare inherited disease, but also the most widespread chronic diseases, such as coronary disease, type 2 diabetes, irritable bowel syndrome, Alzheimer’s disease, breast, prostate or colon cancer, and more.
Using bioinformatics analysis and special algorithms, the PRS tests calculate a polygenic risk score for every disease being investigated. This risk score is compared to the average genetic risk, so the patient may find out how great a risk they run of developing the specific disease compared to the general population average.
The PRS may be considered as the additional risk factor that could not have been evaluated in the past, your DNA. By providing genetic health information, it can help doctors personalize a patient’s prevention plan, taking into account their unique biology.
Each PRS score may be placed on a normal distribution curve. As expected, based on statistics, most people’s scores will be placed around the middle of the curve, demonstrating an average risk of developing a disease. Others may find their scores along the edges of the distribution curve, meaning they run a lower or a higher risk.
People with scores at the high-risk end of the spectrum may be extremely benefited from a consultation with their doctor about said risk, leading to targeted assessment of their health or adjustment of their lifestyle, so they may limit or eliminate the risk of each disease developing.
Source: NIH, NHGRI, https://www.genome.gov/
So, they are useful in that they lead to early detection and, therefore, early management of the risk factors to their health, which may be counteracted with the right interventions, aiming to decrease or even eliminate the increased risk.
Especially in families with a high predisposition for a specific disease, e.g. breast cancer, diabetes or coronary disease, this test would be quite useful if performed at a young age, so the individual may talk to the right specialists early on, for strategies to eradicate the risk.
The Bioiatriki Group Center for Preventive Medicine & Longevity has acquired the GeneTitan technology, the same cutting-edge technology that was used to create one of the largest genetic databases, the UK Biobank. For the first time in Greece, it is offering the Polygenic Risk Score (PRS) for 7 chronic diseases:
The PRS test is performed with a simple blood draw and no preparation is required.
Using the cutting-edge technology of the Bioiatriki labs, it can detect hundreds of thousands to millions of polymorphisms in the same sample. Then, through bioinformatics analysis on genetic data, the PRS score is calculated and within 3-4 weeks, the patient receives a detailed report with the results of their genetic risk for each disease under investigation. This process may look short or simple, but it is essentially a time-consuming one, which incorporates complex math and proprietary algorithms.
The PRS test is indicated for all the people interested in essential prevention. It is recommended for people over age 18, as the test is only performed once, and genetic predispositions are pre-existing and do not change with age.
It is especially indicated for:
- Seemingly healthy people over age 35 with more than one risk factor for each disease.
- Seemingly healthy young individuals with previous family history.
- Relatives of patients, especially first degree, children, adolescents and adults, as a screening test for the same disease.
A high risk score provides information to the patient about their increased predisposition to a specific disease long before the symptoms or even the risk factors of the disease occur. With these results, the patient can then visit their doctor for further targeted screening or adjustment of their lifestyle, in order to mitigate the risk.
In the event of PRS for breast cancer, precise recommendations are provided as to the age for initiating screening, depending on the size of the risk.
In the event of a high genetic risk, there is no immediate cause for concern, as it is not a diagnosis of a disease, but a risk (or high likelihood, if you wish) of a future disease.
It is best for patients who know they run a high risk to talk to their GP, their family doctor or a specialist for further medical investigation and for strategies to eradicate the risk, as already mentioned.
For certain diseases, you can get a very good estimate of the risk, but not necessarily of the ways to prevent or treat it. Therefore, the question is whether it is useful to know the risk, given there is nothing you can do about it. The fact that there is no cure does not mean that there is nothing you can do about it.
Firstly, for some people, it is important to be aware of the likelihood of getting a disease, just to be able to better get their lives in order and make decisions for them and their families.
Secondly, knowing of the risk entails greater awareness of the disease and, therefore, social mobilization for funding and participating as volunteers in research to find a treatment for it. Lastly, being aware of the risk of a disease may lead to different management and prioritization of interventions for other diseases and their risk, as this may help avoid comorbidities.
In the end, the decision to become aware of the risk, even for a disease for which there is no prevention or cure, should be left exclusively to the person and should not be a decision made by others. Therefore, science ought to offer these tools to every citizen.