Has research on the human genome stopped?

We all know the Human Genome project, officially launched in 1990, although it had been working partially since 5 years earlier. Its purpose was to identify and decipher all the genes in human DNA in 15 years. The project was completed in 2003, within the foreseen term, although in the year 2000 partial results were published. From the scientific point of view, the project was a success, but perhaps for a part of the public it can look like a failure, as the exaggerated expectations aroused by some media have not been fulfilled.

The media hailed the project as the door to a new medical revolution. Among the revolutionary applications announced were: gene therapy to prevent or correct genetic diseases; premature diagnosis of actual or potential diseases, even from the embryonic stage; or personalized medicine, which would adapt treatments of diseases to the ailing person. Possible dangers were also discussed, such as the manipulation of human embryos to adapt their genes to the wishes of parents or dictatorial governments; or the use of genetic data to select personnel, or to grant or deny insurance and credit...

Let us look at a few headlines taken from the newspaper library of a major Spanish newspaper (La Vanguardia):

• The search for the Biological Grail (10/21/1989, page 2 of the Science and Technology supplement).
• DNA as a medical instrument. Scientists already have techniques to manipulate the privacy of the individual (12/21/1990, page 5 of the Medicine and Quality of Life supplement).
• The engine of modern economy. Geneticists lay the foundation for a medical and economic revolution (6/27/2000, page 37).
• The human genetic code lays the foundation for a medical revolution (12/31/2000, magazine, page 6).

Cost of sequencing a human genome

After the end of the project, when such forecasts were not fulfilled immediately, the public felt some disappointment. The fact that research in this field would slow down was predictable, for in the United States the Human Genome project was financed entirely with new funds, without affecting other research budgets. Once the special funds were finished, new projects in this field (such as the ENCODE project, aimed at discovering all the functional elements of the genome, or the Human Microbiome project, which analyzed the genomes of microbes living in symbiosis with man) had to enter competition with investigations in different fields of science. Naturally, decreasing the funds automatically decreased the speed of the research. Anyway, in the next years there were significant advances. For example, the cost of sequencing an individual human genome has been divided by 100,000 (it is currently less than $1,000 per person).

An article published in Science News in 2014 stated that the cost of storing a person’s genome is greater than sequencing it. This statement must be wrong, because a complete human genome (the DNA in the chromosomes) is made of about three billion nucleotides. Since each nucleotide can belong to four different types, depending on its nitrogenous base (adenine, guanine, cytosine or thymine), two bits are enough to define a nucleotide, thus the complete description of the genome would take about 6 gigabits, an amount of information that can be stored in a USB stick of one gigabyte, at a cost of a few dollars.

The Human Genome project was a triumph of science, but its effects will not be immediate. This need not be bad. This way we will have more time to prevent its possible harmful effects. As with any tool, the knowledge about the genome can be used in a right or a wrong way. But the systematic exaggeration in the predictions, motivated by the desire to get impacting headlines, can lead to disappointment and cause public opinion to be against similar projects in the future.

The same post in Spanish
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Manuel Alfonseca