Finishing the Human Genome Sequence (Once more)

A basic attribute of the genomics sector aspires to be complete. In any case, genomics is the synthesis of all the DNA of an organism: its genome.

Scientists from the Telomere-to-Telomere (T2T) consortium have now reported the truly complete primary sequence of a human genome, practically twenty years after the Human Genome Challenge produced the (essentially complete) primary sequence of the human genome. Individuals might be surprised at how scientists claim to complete the sequence of the human genome once again. Wasn’t it already executed? Correctly, of course and not.

Understanding this new stage requires an appreciation of the extremely nuanced and sometimes misunderstood signature product of the unique company. It is also an ambition that is always sought after but rarely achieved in science: the dream of completion.

The main objective of the Human Genome Challenge was to generate the primary sequence of the human genome. While the goal was to be as complete as possible, the company’s managers put reasonable limits around this ambitious philosophy and, in fact, did not consider protecting the company until the order of the approximately three billion bases of human DNA had been sequenced. This reasoned method prevented “perfection from becoming the enemy of the great.”

In 2001, the Human Genome Challenge and Celera Genomics all reported the technology of a draft human genome sequence with great fanfare. Two years later, by using the most efficient applied sciences for DNA sequencing and pushing them to their absolute limits, the Human Genome Challenge delivered a remarkably high-quality human genome sequence that was virtually complete, representing more than 90 pc of the human genome. There were no instant prospects of filling in the remaining bits due to the applied sciences for DNA sequencing at the moment have been inferior to the duty.

So victory was declared, the Human Genome Challenge ended, and many people celebrated the primary sequence of the human genome. Writing about their scientific achievement, the company’s managers carefully selected their phrases, reporting the technology of a “fundamentally complete” human genome sequence. Such careful wording was intentional and served as a warning about the most valuable product of the Human Genome Challenge.

However, it is true, in the midst of the exuberant celebrations, only a few of these leaders were able to give the impression that they were proclaiming: “We are executed; we have finished it; our work is full.”These hyperboles have actually been the talking champagne. There were some grumblings at the time that such claims were fallacious, but I contend that critics saw the glass as half empty. I consider that the company’s technology of the primary sequence of the human genome represents a glass that was more than 90 p. c full! And the people who were celebrating loudly had earned their imprecise speech about champagne.

The genomics group in no way wanted to easily move away from the end of the work. In fact, the event of applied sciences and techniques for sequencing the remaining difficult areas of human DNA has quickly emerged as a high priority area of genomic analysis. These efforts have resulted in a collection of the latest applied sciences that have reduced the price of DNA sequencing by more than a millionth.

However, even with these new applied sciences, the production of an end-to-end human genome sequence has remained a very laborious drawback, exhausting some of the most gifted genomics researchers.

Correcting this disadvantage and determining how to sequence the missing components of the human genome required a completely new technology of DNA sequencing applied sciences and a completely new technology of computational approaches, which were productively put into the arms of a completely new group of genomicians who energized the sector with a completely new technology of strategic thinking, concepts and tenacity. These efforts also required appreciable endurance. Fortunately, all these elements have arrived here collectively lately throughout the T2T consortium—and the rest is for past historical books (and maybe a Netflix movie?) as we have now for quite a while an emblematic collection of the latest publications reporting another historical step in genomics.

The newly added sequence, amounting to about 10pc of the human genome, consists of certain genes and huge amounts of repetitive DNA, the most delicate genomic areas to sequence. Most of this DNA resides near the repetitive telomeres (the long ends of each chromosome) and centromeres (the dense central part of each chromosome). These results are in addition to the growing human genome data, as well as additional correct maps for 5-chromosome arms, and may stimulate new strains for analysis.

It is gratifying to recognize how the researchers of the T2T consortium have built on the successes of the genomists of the Human Genome Challenge who preceded them and, later, of those who introduced new highly efficient applied DNA sequencing sciences and progressive computational methods to the problem. Their efforts have resulted in a truly complete human genome sequence, from the telomere to the telomere of each human chromosome.

This advance brings us closer and closer to the long term promised by genomics. For the first time, it seems possible that researchers and clinicians will finally have the ability to determine the entire variants of an individual’s DNA and use this information in a comprehensive technique to better inform their wellness care.

I strongly applaud the achievements of the T2T consortium. Humanity will perpetually rejoice in your perseverance, creativity, power and adventurous spirit. Your reward is the main comprehensive illustration of the human DNA blueprint—something that could catalyze future advances in genomics, human biology and drugs.

At the same time—and with the same spirit of aspiration to be complete in genomics—let me easily admit that our work remains not to be carried out. With an entire sequence of the human genome now in hand, our work continues to understand how the capabilities of the human genome, how our genomes differ from each other (as well as the many populations internationally), how these variations affect our well-being and how details about these variations can be used to improve the effectiveness of drugs.

This is the pleasure of science and analysis: the work is rarely complete. Each advance opens up new perspectives of alternatives with the frequent feeling that the most effective remains to be but to return. I definitely consider this to be true for human genomics, and I’m excited to see what the next know-how, the next researcher, and the next consortium provide. Every time I discover myself proud and happy with what genomics has presented to us so far: a mixture of basically full, really full and in all other cases.

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