The myGenome is a genetic sequencing test performed on a simple saliva or blood sample. We sequence the entire genome (Whole Genome Sequencing) and provide a full report of the results. All our tests must be ordered by a doctor and include pre- and post-test genetic counselling.

The whole process, from the moment the sample arrives at the laboratory to the analysis of the information and the production of the results, takes 12-14 weeks. Estimated completion times vary as each person’s genomic information is unique and may require different levels of analysis.

myGenome is a test designed for healthy people of an older age. It uses the myNewborn genetic screening test for the genetic analysis of minors, focusing on the most common genetic pathologies in childhood.

There are tests that analyse specific positions in your DNA, but do not look at the whole genome or genes, these tests are usually cheaper and are called genotyping tests. If you compare them to a book, they would be something like this:

genotyping                                                                                                genome

In both cases the data is real, but the information is completely different! In the first case, if we know exactly what to look at, we are likely to get interesting information, although much information is left unanalysed, so clinical utility is limited. It may not be visible to the naked eye in the report, but your whole genome is not analysed in this case.

In other cases, the tests sequence the whole genome, but lack expertise in interpreting variants, so they include in the report everything that appears in public databases without review and therefore without final classification. Many of these variants have no clinical utility, leaving the doctor unable to modify medical treatment and causing unnecessary alarm in the healthy patient.

The whole genome sequencing reads billions of letters in DNA, a long chain of A’s, T’s, C’s and G’s (representing the individual components of DNA). Each gene is encoded by this 4-letter code, so we analyse its sequence and then look for changes or variants in the genes.

NGS stands for Next Generation Sequencing, a set of technologies used to sequence millions of DNA fragments in parallel, improving response times and the cost of genetic testing. Before the implementation of NGS sequencing, sequencing a genome cost millions of dollars.

DNA is the genetic blueprint for life. It is a complex molecule found in every cell of our body and contains all the instructions needed to create and sustain life. It is an information storage system, a four-letter code representing four molecules: adenine, thymine, guanine and cytosine. The complete sequence of these chemicals makes up our genetic code, our genome. A single molecule of DNA contains about 6 billion A’s, T’s, C’s and G’s, in fact, if we could unfold a molecule of DNA, it would be almost 2 metres long.

Whole-genome sequencing allows you to read all your genetic material by creating a library of you. This way, you can learn relevant information today to prevent and avoid diseases you are prone to, and access updates and scientific findings that can be generated for you in the future based on your lifetime genetic library. This journey will now allow you to personalise your healthcare with your specialist doctor based on what makes you unique: your own DNA, unlike any other in the world.

Every person has thousands of genetic variants in their DNA, but this does not mean that they will develop a genetic disease. Some variants simply make us unique, others slightly increase the likelihood of developing a disease, and others require medical attention because they pose a risk to our health. Interpretation of genetic reports should always be done in consultation with a genetic counsellor to help you understand the information.

Each person’s DNA contains changes and variations that make it unique. Detection of these variations is beneficial as it helps to identify guidelines and appropriate measures to reduce the chance of developing the disease and/or to treat it in a predictable and more effective way.

No, it is common to be a carrier of a genetic disease. Humans have two copies of each gene. Being a carrier means having a genetic variant in one copy of a gene associated with a recessive disease. In other words, one copy of the gene works and one copy does not work. Recessive diseases require an individual to have two variants (two non-functioning copies of the gene) to develop the disease, so you are a ‘carrier’ of a variant, but you are not essentially exposed to the disease. However, knowing this information is very important as there is a risk of having children with this disease if your reproductive partner is also a carrier of the same condition.

No. A person’s genetic information does not change. Scientific knowledge is advancing, and fortunately we know more about it every day. For this reason, the genome is a resource of life that can be looked into over time to learn about new findings that have come about as a result of advances in scientific knowledge.

The cost of the genetic testing service depends on the technology used and the amount of genetic expertise required to provide the result. There is a direct correlation between the amount of DNA information analysed and a more clinically effective and reliable result. At Intelligenetic’s partner Veritas, we use whole genome sequencing, which allows us to capture and analyse an individual’s entire DNA. As the information is very valuable and can significantly influence an individual’s future healthcare, we believe that it should be managed by a healthcare professional. Directly or in collaboration with the commissioning physician, we support a pre- and post-test genetic counselling process where the results are presented and an action plan can be developed to take full advantage of the information obtained.

DNA is not scattered throughout our cells, it is carefully packaged into structures called chromosomes. We have 46 chromosomes in total, half inherited from our mother and half from our father. On these chromosomes are segments of DNA called genes, many of which contain instructions for making proteins, and these proteins determine everything about us, from the colour of our eyes to our predisposition to disease.