On December 10, 1948, the first text of the declaration of human rights was signed by the UN General Assembly. Since then and to this day, the inhabitants of various regions of the earth have used the Declaration on the improvement of life, the equality of people, the prevention of inequality, political, social and cultural freedom, protection from abuse, equal access to education and health services.

The purpose of this article is to open a discussion about the fact that knowledge of the genome can be one of the human rights. That the genome is extremely important for health and disease is well known to every high school student in the industrialized world. Society has deep confidence in the power of genomic information/knowledge to predict, diagnose and treat a variety of diseases, including all neoplastic diseases (cancer).

Whole genome reading, the result of many years of international research, is only the beginning of the current post-genomic era in medicine and biology. The discovery of enormous diversity over the past 30 years has confirmed that the genome of each person is unique and inimitable (with the exception of monozygotic twins).

The recognition of individual genomic diversity, the understanding of the function of different regions of the genome, the astounding reduction in the cost of reading each genome, and the daily discoveries of genome associations with various diseases now allow us to use the individual genome as a basic and necessary element of each person’s health capital. About 2 million exons (all 20,000 human genes) and half a million genomes have been read to date, and databases containing this information are used every day to understand which variation is pathological and which is not. In addition, regions of the genome outside the genes encoding “producing” proteins enrich the “medical genome”, that is, the part of the genome that is functional and, when abnormally mutated, is involved in the etiology of diseases.

We are moving very fast towards the time when reading everyone’s genome will (be) the most basic element of the health file. The health systems of many countries have understood this well, and we hope that, thanks to the contribution of genetic information from many societies and regions of the Earth and experimental methods, we will understand in a few years the medical significance of each mutation in 20,000 genes and in other functional areas of the genome.

But apart from the medical importance of diversity, knowledge of the genome opens a window to the historical roots of each individual. This knowledge of the history of each branch of the tree of humanity that reaches each of us gives us a sense of our place in the part of humanity and the certainty of a distant or close relationship with all other people. It can be argued that detailed knowledge of the genome is synonymous with more complete knowledge of the self and determines or influences choice and social commitment.

Reading the whole genome is only the beginning of the current era of medicine and biology.

So, I return to my original position: that is, that knowledge of the individual genome should be one of the human rights.

The right to health care includes the right to information related to genomic information. In addition, issues of health equity and non-discrimination should be viewed positively as a safeguard against abuse of power. I recall that the Declaration on the Rights of Persons with Disabilities (Special Needs) mentions ensuring the highest standards of health without discrimination based on disability. What information is more important at the diagnostic level than the diagnosis of pathogenic mutations in the genome?

Unfortunately, in my experience as a geneticist, I have repeatedly seen genetic diagnoses not provided under the pretext that there is currently no cure for many pathogenic mutations. Moreover, as president of an international organization for the study of the genome, I witnessed a massive global disaster caused by an almost endless list of genetic diseases, many of which could have been predicted with proper genetic testing. Therefore, I think that the introduction of the genome as a human right will force governments, society, health professionals, families and individuals to try to maximize the effect of good mutations and minimize the harm of pathogenic mutations for everyone, regardless of zip code or zip code. birth or place of residence, or the amount of a bank account!

I certainly understand very well the issues of privacy and personal choice and the need to protect these important issues at all costs. Legislation, local and international, must soon adapt to the challenges and protect the deviations arising from genomic knowledge. These problems become more visible and complex in the international environment of genomic identification, which is financially supported by the collective economy of each country. And let it not escape us that the financial burden of this new proposed human right is an important societal issue that needs to be discussed in detail, and every society needs to take a stand according to its own priorities, characteristics and values. And the problem of the chaotic difference between rich and poor countries will come up again!

However, in the future, the need to know the genome of every inhabitant of the Earth may lead to the development of new policies and options for better and more equitable health care.

* Mr. Stylianos Antonarakis is Professor Emeritus of Genetic Medicine at the University of Geneva, Member of the Swiss Academy of Sciences and former President of the International Human Genome Organization (HUGO).