General questions

What does Antegenes do?

Antegenes is a biotechnology company and healthcare service provider located in Estonia. We are developing and implementing innovative, personalised and clinically meaningful genetic tests. These tests are based on polygenic risk scores and give personalised risk assessment of different diseases for early detection and prevention.

Medical questions

What is a gene?

A gene is a unit of heredity and consists of DNA (deoxyribonucleic acid) sequences. We have two copies of each gene, one of which we inherit from our mother and one from our father. Most genes encode proteins, which build up parts of our bodies and help to perform different tasks. The Human Genome Project has evaluated that humans have 20,000–25,000 genes (US National Library of Medicine).

What is genetic risk?

Genetic risk is the chance of developing a certain disorder or disease. Our genes and genetic variations in the genome form the genetic risk.

What is a SNP (single nucleotide polymorphism)?

A single nucleotide polymorphism, abbreviated to SNP, is the most common type of genetic variation in a single nucleotide that occurs at a specific position in the genome among individuals and species. SNPs appear nearly once in every 1,000 nucleotides, so a person’s genome contains approximately four to five million SNPs (US National Library of Medicine). Most SNPs do not cause diseases, but SNPs help to evaluate an individual’s genetic susceptibility to develop particular diseases, response to certain drugs and predisposition to environmental factors (US National Library of Medicine).

What is a polygenic risk score?

Large-scale genome-wide association studies (GWAS) have identified a large number of common genetic variants (SNPs) associated with different diseases in the general population. Most complex traits and common diseases are affected by dozens of genes and SNPs. The susceptibility SNPs yield a modest, but important, increase in the disease risk. Recent developments in genetics allow combining established risk SNPs into one predictive score, the polygenic risk score (PRS). The PRS is a robust prediction method for complex traits and diseases and allows patients to be stratified into different risk groups.

Why are polygenic risk scores important?

Polygenic risk scores are used for early disease detection and prevention. Standard age-based screening eligibility, based on age alone, has the potential to miss people with a high risk of disease. The PRS creates practical solutions for reducing screening intervals in high-risk groups and increasing them in low-risk groups. For example, only about 10% of women who have a family history of breast cancer have one of the deleterious single-gene mutations associated with the disease. Therefore, with a combination of PRS and factors such as family history and lifestyle, we can now bring the remaining 90% a score that gives a risk assessment of developing breast cancer.

For whom are the AnteBC, AntePC, AnteCRC and AnteMEL tests suited?

AnteBC (test for breast cancer risk) is suitable for women aged 25–80 who have European ancestry.

AntePC (test for prostate cancer risk) is suitable for men aged 25–80 who have European ancestry.

AnteCRC (test for colorectal cancer risk) is suitable for men and women aged 25–80 who have European ancestry.

AnteMEL (test for melanoma risk) is suitable for men and women aged 25–75 who have European ancestry.

What does it mean if I have a high polygenic risk score?

It depends on the category to which you belong: the highest 1%, the highest 5% or the highest 10% of individuals with a heightened risk of disease.

Antegenes provides customers with their remaining lifetime risk of developing specific cancers over the next 5, 10, 20 and 30 years, based on an analysis of genetic markers.

Which disease risks do polygenic risk scores predict?

Antegenes initially offers polygenic risk scores for four different cancers: breast cancer, prostate cancer, colorectal cancer and melanoma.

In general, polygenic risk scores may be developed for many other conditions, such as age-related macular degeneration, asthma, atrial fibrillation, breast cancer, chronic obstructive pulmonary disease, Crohn’s disease, coeliac disease, coronary artery disease, glaucoma, hypertension, multiple sclerosis, obesity, prostate cancer, systemic lupus erythematosus, type 2 diabetes and ulcerative colitis, etc.

Thus, many other possibilities will follow.