On the 20th anniversary of the Human Genome Project, an interesting article published in Nature disease reviews the discoveries built on this milestone in science (read HERE and HERE).

Human genome project achievements: Genetic roots of human diseases

The aforementioned article analyses the impact thus far of the first publication of the genetic sequence of humans in 2001. Accordingly, the authors have traced how this publication has allowed us to advance our knowledge of the genetic roots of human disease, facilitate the development of different drugs, and improve our understanding of the genome. To this end, they analyzed a vast amount of data, including 1,660 human diseases with genetic roots; 7,712 approved and experimental pharmaceutical products; and 704,515 scientific publications. They also point out that other factors have also been necessary for this advance, such as increased computing power and sophisticated genome sequencing methods, but that the Human Genome Project was the catalyst for the continuing genetic revolution we are experiencing.

“Superstar” genes

The paper highlights how research has been intensely focused on a small number of protein-coding genes, which have been called ‘superstar genes’. “Some superstar genes, including TP53, TNF and EGFR, became the subject of hundreds of publications a year, with most other genes receiving scant attention […]. We find that, by 2017, 22% of gene-related publications referenced just 1% of genes.”

Although these genes are certainly of great interest, the authors criticize how the study of the rest of the genome has been overlooked. “Despite this being flagged as a potential problem on the tenth anniversary of the draft genome’s publication, there has been no course correction,” they say, based on examination of their findings. The authors remark that this imbalance may be due to a ‘rich-gets-richer’ dynamic, i.e., as the number of articles focusing on a gene increases, it is easier to obtain funding and papers for future work on that same gene. “Indeed, we find that the number of new yearly publications focusing on a given gene is linearly proportional to the size of previous literature on it,” the authors say, and conclude this topic with an interesting question: “Are researchers putting money, time and effort into what is most important or urgent, or into more of the same because that will reliably win grants and plaudits?”

This kind of research endogamy is indeed reprehensible since it is not genuinely at the service of the common good and would be preventing many positive developments from materializing. Commitment to the common good, however, if it is to really work, must be a commitment shared by all. Funding structures should encourage researchers to move out of this comfort zone and to open up to unexplored possibilities, providing the necessary means to do so without fear that a negative outcome could adversely affect their work.

Human genome project achievements

The Human Genome Project has also provided a way to catalog human genetic variation, including single nucleotide polymorphisms (SNPs), which are very small variations in the genome present in at least 1% of the human population (otherwise, they are considered point mutations) that can be associated with the susceptibility or resistance of certain individuals to diseases or infections, and response to certain drugs. In addition, several initiatives have worked on the development of comparative genomic studies across thousands of people, which have led to what are known as “genome-wide association studies” (GWAS). These seek to associate genetic variants with different variable traits, such as height, obesity, or susceptibility to complex diseases such as schizophrenia. There are currently more than 30,000 articles published each year linking SNPs and traits.

Such advances have led to the emergence of so-called clinical genetics. Medicine can now rely on information about the genome of the patient and their family to refine diagnoses and treatments. In bioethics, several issues have been raised in parallel with this development, related to data privacy, the management of information according to the patient’s wishes and the difficult risk-benefit evaluation of knowing the genome itself, when we do not yet know how to interpret that information. (See more HERE). Moreover, thanks to advances in our understanding of the genome and the development of gene-editing techniques, such as CRISPR, gene therapy finally seems feasible. However, the application of these same techniques in the germline, i.e. on early gametes and embryos, also appears as a possibility, and since 2015 several experiments of this type have already been carried out (read HERE). These involve the manipulation of hundreds of embryos in vitro and their subsequent destruction, which is bioethically difficult to accept.

Prior to the determination of the complete sequence of our genome, drug development was very different and costly. In the beginning, it was largely based on chance, and gradually drifted towards design aimed at specific molecular targets, albeit with difficulty. However, molecular targets are now known for almost all drugs approved in the United States each year. Nevertheless, the authors have found that, as with gene studies, drug development is focusing on only a few proteins, with just around 10% of proteins revealed as possible drug targets; “[…] it could be that there are many more proteins worth exploring as drug targets if only researchers, funders and publishers were less risk-averse,” bemoan the authors of the paper. As we said previously, when it comes to advancing for the common good, it should not be a question of taking risks, but of consolidating a system that fosters the undertaking of innovative research at all levels (read HERE).

Lucía Gómez Tatay

Bioethics Observatory. Institute of Life Sciences.

Catholic University of Valencia



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