The Bioiatriki Group Center for Preventive Medicine & Longevity provides, for the first time in Greece, the option of having a Polygenic Risk Score (PRS) test performed for 7 chronic diseases:

The Bioiatriki Group Center for Preventive Medicine & Longevity provides, for the first time in Greece, the option of having a Polygenic Risk Score (PRS) test performed for 7 chronic diseases:

The PRS genetic screening tests are based on the cutting-edge GeneTitan genotyping analysis technology, which is the same technology used to create one of the largest genetic databases, the UK Biobank.

In Genome Medicine, the Polygenic Risk Score (PRS) is the epitome of genetic research and biotechnological advancement.  The PRS tests allow extensive investigation of the human DNA, focusing on the contribution of genetic polymorphisms to the predisposition and development of chronic diseases in the human body.

PRS (POLYGENIC RISK SCORE)

What are the PRS (Polygenic Risk Score) genetic screening tests?

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.

How is the PRS useful for the patient?

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/Health/Genomics-and-Medicine/Polygenic-risk-scores

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.

Which diseases does the PRS investigate?

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:

How is the PRS test performed?

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.

Who is the PRS test indicated for?

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:

  1. Seemingly healthy people over age 35 with more than one risk factor for each disease.
  2. Seemingly healthy young individuals with previous family history.
  3. Relatives of patients, especially first degree, children, adolescents and adults, as a screening test for the same disease.
What should I expect after undergoing the PRS test?

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.

How worrisome is a high PRS?

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.

Why should I be interested in knowing my predisposition to diseases for which there is no cure at the moment, such as Alzheimer’s

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.

What is Genome Medicine?

We may all consist of the same genes, but, essentially, we are different from one another, not just in terms of external features, but also in terms of the performance of our biological functions and our predispositions to diseases. In other words, as already mentioned, each and every one of us has an Achilles’ heel. 

Establishing the genetic traits of each person that may render them more vulnerable, significantly increasing the risk for various diseases, is called Genome Medicine and is a fundamental and integral part of Precision Health.

What are genetic polymorphisms?

All humans have near-identical DNA sequences across the estimated 6 billion-letter code for their genome. However, slight differences exist between individuals, making each of us unique. These differences are called genomic variants or polymorphisms (when observed more frequently in the population) and occur at specific locations within the DNA.

Each one of us differs from the person next to us by about 10,000,000 genomic variants. According to scientific literature, the existence of specific variants in our DNA may significantly increase or decrease the risk of disease, rendering us more vulnerable or more resistant to chronic illnesses.

In the context of Genome Medicine, it is now possible to assess the DNA by measuring the Polygenic Risk Score or PRS. The Polygenic Risk Score (PRS) is the epitome of genetic research, taking research into clinical practice.  PRS tests allow extensive investigation of the human DNA, focusing on the contribution of genomic variants to the predisposition and development of chronic diseases in the human body.

What are single-gene (monogenic) vs. complex (polygenic) diseases?

To be able to understand what the PRS assesses, you must first understand the difference between single (or otherwise monogenic / inherited genetic) and complex (or otherwise chronic/polygenic) diseases.

Most inherited diseases are due to mutations in a single gene at a specific position on said gene. For example, cystic fibrosis, one of the most common, potentially lethal genetic diseases among Caucasians, is caused by a mutation in the CFTR gene on chromosome 7. This is a case of a direct genetic link, meaning a specific mutation that causes the disease. The genetic test of choice in this case is a diagnostic test based on technology being used for over a decade now.

On the other hand, complex diseases (such as coronary disease, diabetes, various forms of cancer, etc.) are called complex because they often occur as a result of many genomic variants, paired with environmental factors (such as diet, sleep, stress and smoking). They are called “polygenic” disorders due to the many genomic variants associated with the disease. For example, coronary disease is a polygenic disease. Researchers have found multiple, specifically hundreds of thousands of variants that develop more often in people with coronary disease rather than healthy people. Most of these variants are dispersed across the genome (DNA) and do not cluster on one specific chromosome. 

This is not a case of a direct genetic link, as it is not a mutation at a position of our DNA that leads to the disease, but a strong genetic correlation of a specific set of DNA polymorphisms (could be thousands) to the disease.  The genetic test of choice in this case is not a diagnostic, but a prognostic or preventive, if you like, genetic test, which assesses the genetic risk a person runs of developing in the future any of the main chronic conditions. This is now available to the general public and is known as Polygenic Risk Score or PRS.

Source: NIH, NHGRI, https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

Source: NIH, NHGRI, https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

PRS: a giant leap towards Precision Health

Assessing the polygenic risk for complex diseases, in the form of PRS, is a giant leap towards Precision Health.

To date, the ability of preventive medicine to predict, prevent or even determine a disease is steadily approaching the target (meaning the disease each time), but has not achieved it yet. By introducing one of the 2 main factors that affect our health, our DNA, to the evaluation, in the form of PRS, brings us right at the target of Precision Health and many steps closer to securing essential health.

What is the clinical usefulness of the PRS test for the doctor who performs it?

The PRS tests for various forms of cancer, coupled with other molecular tests, provide a comprehensive molecular presentation of the patient, including thousands of new genetic polymorphisms which cannot be investigated using conventional molecular methods, potentially changing the clinical presentation of a patient and offering doctors the chance to set a very precise preventive management plan.

In terms of other chronic diseases, such as coronary disease, the PRS can be paired with other traditional risk factors, such as LDL cholesterol, for precision estimation and prevention. In this example, an LDL cholesterol value of 115-130 mg/dL is considered “close to normal” for the average population who has an average PRS. However, for a high PRS (meaning high genetic predisposition) the same LDL value is considered a risk factor for coronary disease. Understandably, this precision approach significantly modifies the doctor’s prevention plan for the specific individual.

PRS (POLYGENIC RISK SCORE)

What are the PRS (Polygenic Risk Score) genetic screening tests?

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.

How is the PRS useful for the patient?

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/Health/Genomics-and-Medicine/Polygenic-risk-scores

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.

Which diseases does the PRS investigate?

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:

How is the PRS test performed?

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.

Who is the PRS test indicated for?

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:

  1. Seemingly healthy people over age 35 with more than one risk factor for each disease.
  2. Seemingly healthy young individuals with previous family history.
  3. Relatives of patients, especially first degree, children, adolescents and adults, as a screening test for the same disease.
What should I expect after undergoing the PRS test?

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.

How worrisome is a high PRS?

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.

Why should I be interested in knowing my predisposition to diseases for which there is no cure at the moment, such as Alzheimer’s

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.

What is Genome Medicine?

We may all consist of the same genes, but, essentially, we are different from one another, not just in terms of external features, but also in terms of the performance of our biological functions and our predispositions to diseases. In other words, as already mentioned, each and every one of us has an Achilles’ heel. 

Establishing the genetic traits of each person that may render them more vulnerable, significantly increasing the risk for various diseases, is called Genome Medicine and is a fundamental and integral part of Precision Health.

What are genetic polymorphisms?

All humans have near-identical DNA sequences across the estimated 6 billion-letter code for their genome. However, slight differences exist between individuals, making each of us unique. These differences are called genomic variants or polymorphisms (when observed more frequently in the population) and occur at specific locations within the DNA.

Each one of us differs from the person next to us by about 10,000,000 genomic variants. According to scientific literature, the existence of specific variants in our DNA may significantly increase or decrease the risk of disease, rendering us more vulnerable or more resistant to chronic illnesses.

In the context of Genome Medicine, it is now possible to assess the DNA by measuring the Polygenic Risk Score or PRS. The Polygenic Risk Score (PRS) is the epitome of genetic research, taking research into clinical practice.  PRS tests allow extensive investigation of the human DNA, focusing on the contribution of genomic variants to the predisposition and development of chronic diseases in the human body.

What are single-gene (monogenic) vs. complex (polygenic) diseases?

To be able to understand what the PRS assesses, you must first understand the difference between single (or otherwise monogenic / inherited genetic) and complex (or otherwise chronic/polygenic) diseases.

Most inherited diseases are due to mutations in a single gene at a specific position on said gene. For example, cystic fibrosis, one of the most common, potentially lethal genetic diseases among Caucasians, is caused by a mutation in the CFTR gene on chromosome 7. This is a case of a direct genetic link, meaning a specific mutation that causes the disease. The genetic test of choice in this case is a diagnostic test based on technology being used for over a decade now.

On the other hand, complex diseases (such as coronary disease, diabetes, various forms of cancer, etc.) are called complex because they often occur as a result of many genomic variants, paired with environmental factors (such as diet, sleep, stress and smoking). They are called “polygenic” disorders due to the many genomic variants associated with the disease. For example, coronary disease is a polygenic disease. Researchers have found multiple, specifically hundreds of thousands of variants that develop more often in people with coronary disease rather than healthy people. Most of these variants are dispersed across the genome (DNA) and do not cluster on one specific chromosome. 

This is not a case of a direct genetic link, as it is not a mutation at a position of our DNA that leads to the disease, but a strong genetic correlation of a specific set of DNA polymorphisms (could be thousands) to the disease.  The genetic test of choice in this case is not a diagnostic, but a prognostic or preventive, if you like, genetic test, which assesses the genetic risk a person runs of developing in the future any of the main chronic conditions. This is now available to the general public and is known as Polygenic Risk Score or PRS.

Source: NIH, NHGRI, https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

 Source: NIH, NHGRI, https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

PRS: a giant leap towards Precision Health

Assessing the polygenic risk for complex diseases, in the form of PRS, is a giant leap towards Precision Health.

To date, the ability of preventive medicine to predict, prevent or even determine a disease is steadily approaching the target (meaning the disease each time), but has not achieved it yet. By introducing one of the 2 main factors that affect our health, our DNA, to the evaluation, in the form of PRS, brings us right at the target of Precision Health and many steps closer to securing essential health.

What is the clinical usefulness of the PRS test for the doctor who performs it?

The PRS tests for various forms of cancer, coupled with other molecular tests, provide a comprehensive molecular presentation of the patient, including thousands of new genetic polymorphisms which cannot be investigated using conventional molecular methods, potentially changing the clinical presentation of a patient and offering doctors the chance to set a very precise preventive management plan.

In terms of other chronic diseases, such as coronary disease, the PRS can be paired with other traditional risk factors, such as LDL cholesterol, for precision estimation and prevention. In this example, an LDL cholesterol value of 115-130 mg/dL is considered “close to normal” for the average population who has an average PRS. However, for a high PRS (meaning high genetic predisposition) the same LDL value is considered a risk factor for coronary disease. Understandably, this precision approach significantly modifies the doctor’s prevention plan for the specific individual.

For further information about PRS genetic screening tests at Bioiatriki, call the Center for Preventive Medicine & Longevity on +30 210 6966111.

See the brochures:

► PRS: Polygenic Risk Score
► PRS: Demo Report
Cardioscore: Polygenic Risk Score in Coronary Disease

For further information about PRS genetic screening tests at Bioiatriki, call the Center for Preventive Medicine & Longevity on +30 210 6966111.

See the brochures:

► PRS: Polygenic Risk Score
► PRS: Demo Report
► Cardioscore: Polygenic Risk Score in Coronary Disease

Sources:

1) NIH, National Human Genome Research Institute (NHGRI), 2020
2) Khera, Amit V., et al. “Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.” Nature genetics 50.9 (2018): 1219
3) N. Mavaddat, K. Michailidou, J. Dennis, et al., “Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes”, eng, American Journal of Human Genetics, vol. 104, no. 1, pp. 21–34, Jan. 2019, ISSN: 15376605. DOI: 10.1016/j.ajhg.2018.11.002.