• The study, conducted by the prestigious Craig Venter Institute and the Baylor College of Medicine in Houston, with a sample of 1,190 healthy people, identified that 1 in 6 may present pathogenic or likely pathogenic variants that imply a predisposition to a certain pathology, whose preventive treatment can be personalised.
• In 10% of cases, the disease had appeared without the carrier being aware of it. In these cases, the information provided by the genome makes it possible to anticipate and personalise treatment and minimise the effects of the disease.
• The ability to find out the strengths and weaknesses of each person is a key tool in adapting medical care, applying lifestyle changes and prevention strategies that prevent or mitigate the development of disorders as common as cardiovascular pathologies or metabolic disorders.
• The exponential reduction in the cost of genome sequencing and its extension to “healthy” people is accelerating the application of precise medicine and providing new information on the study of genes and their pathogenic variants.

The sequencing and clinical interpretation of the whole genome has made it possible to personalise health care and, in certain cases, to anticipate the appearance of a series of diseases towards which one has a genetic predisposition.

A recent study carried out by the prestigious J. Craig Venter Institute, a world leader in genomic research, analysed the genome of 1190 people. It showed that 206 of these people – 17% of the total – presented at least one pathogenic or likely pathogenic variant that increased their predisposition to present a certain pathology. This key information means that medical care can be personalised and action taken before the onset of the first symptoms.

Anticipating the onset of disease

Of the 206 people with a certain variant, 66% already had alterations of some kind (detected in other tests such as metabolite levels, blood parameters or diagnostic imaging) mainly related to dyslipidemia, cardiomyopathy, cardiac arrhythmias, diabetes or endocrine pathologies. 33% of the people who presented risk variants showed no signs of the disease, which means the prevention and early detection of the disease is possible.

One of the most significant findings of the study indicates that 86.3% of the people analysed were carriers, that is, they had a genetic alteration in one of the two copies we have of each gene. In total, variants were found in 680 genes. Usually the carrier state does not give rise to disease, but the study showed that about 6% of these carriers had some phenotypic alteration, that is, they had some altered value of the parameters under study. Some examples are the presence of kidney cysts in patients with polycystic kidney disease (PKDH1 gene) or elevated liver iron levels in hemochromatosis carriers (HFE gene).

This study is a milestone in the integration of genomics and clinical practice and reinforces its usefulness in the care of both “healthy” people and those who have already manifested some type of pathology. Today, scientific advances in various areas allow the increasingly rapid transition from the application of standard treatment for a pathology to the application of precise medicine that is specific to each patient, which also aims to prevent disease.

In this task, the genome has shown that it plays a crucial role, since the information contained in the genes contains the code of life and is different for each person. The ability to find out the strengths and weaknesses of each person is a key tool in adapting medical care and applying lifestyle changes and prevention strategies that prevent or mitigate the development of disorders as common as cardiovascular pathologies or metabolic disorders. The exponential reduction in the cost of genome sequencing and its extension to “healthy” people is accelerating the application of precise medicine and providing new information on the study of genes and their pathogenic variants.

“The research carried out by the J. Craig Venter Institute,” says Dr. Luis Izquierdo, Medical Director of Veritas Intercontinental, “represents a great advance in demonstrating the clinical utility of genome analysis in patients with no diagnosed pathology and, therefore, the importance of having this information available when improving and personalising medical checkups, as well as anticipating the onset of disease“.

About Veritas Intercontinental

Veritas Intercontinental, The Genome Company, operates in Europe, Latin America, Japan and the Arab Emirates. Its mission is to promote whole genome sequencing and offer people information that empowers them to maximise the quality and duration of their lives and those of their families, changing the way the world understands genetics.

Veritas was the first company to offer whole genome sequencing and interpretation to consumers and their doctors and leads the field of genetics, expanding the limits of science and technology and reducing the cost of the genome.

Founded in 2014 by leaders in genomics from Harvard Medical School. The company was recognised by MIT Technology Review as one of the 50 Smartest Companies in 2016 and 2017, by Fast Company as one of the Word’s Most Innovative Health Companies in 2018, and by CNBC as one of the Disruptor 50  companies in 2018 and 2019.