For which genetic studies do we offer interpretation support?
Understanding the meaning and significance of genetic results
The advances made in recent years in the fields of genetics and genomics have opened up great opportunities in many areas of medicine and other health-related disciplines (pharmacy, nutrition, dentistry, etc.). Genetic tests have become a useful tool for the prevention, diagnosis and treatment of numerous diseases, including in daily clinical practice.
At the same time, there has been a proliferation of genetic tests aimed directly at the consumer. Those in which the person concerned sends a saliva sample with the promise that they will analyse an infinite number of indicators related to their health, well-being, predisposition to diseases, personality, sporting performance, nutrition, etc.
Any genetic result should be reviewed by an expert in the field in order to explain the information that these tests really offer, their complexity and the interpretation of this information.
Who is the service aimed at?
The genetic results interpretation service is aimed at both individuals and health professionals.
Have you received the results of a genetic study and don’t know what they mean? At Genosalut we help you to understand the results and the implications they have for your health.
Do you have any doubts about genetics or the results of a genetic study?
Has a patient come to you with the results of a genetic test aimed at the consumer and you have doubts?
At Genosalut we have experience in carrying out genetic tests and interpreting their results. We have also been offering genetic counselling services for years. That is, we are used to having this type of conversation to discuss the risks and limitations of genetic studies.
Our value proposal
What is genetic testing?
A genetic test or genetic study is a test carried out in a laboratory to analyse genes. Genes are the instructions contained in the DNA that we inherit from our parents. Sometimes these instructions contain variants or defects known as mutations that can predispose, be the cause or one of the causes of health problems and various diseases.
Diagnostic: To confirm or exclude a genetic pathology, generally in a person presenting certain symptoms.
Predictive: To determine the risk of developing a disease.
There are also carrier studies, prenatal studies and pre-implantation studies.
There are numerous technologies in the field of genetics, the choice of which depends to a large extent on the objective of the study. For example, there are classical cytogenetics or karyotyping, genotyping (Sanger, HRM, Taqman), molecular cytogenetics (array CGH, fragment analysis) and massive sequencing (exome, genome).
Most commercial genetic tests analyse DNA variants associated with increased risk, i.e. they are predictive.
In many cases, these are variants with low significance for a given disease. That is, having one or the other variant does not make a big difference to one’s personal risk of the disease. Even when known risk factors are added together, they still do not predict the likelihood of developing the disease strongly.
Most diseases are complex and multifactorial. This means that various genes together with the influence of the environment influence their onset.
In addition, new knowledge is being gained every day and there may be more genetic risk factors that need to be discovered as well as the interaction between genes and environment.
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