This week, Science publishes a special issue on the 20th anniversary of the sequencing of the human genome. It is a time to remember an important truth about science: that new knowledge always leads to new questions. There was a time when we thought that the complete sequence of the genome would abruptly produce a host of new answers. It didn’t. We were surprised that there weren’t more human genes, we didn’t know what to make of all the introns, and we suddenly realized that epigenetics might be just as important as the sequence itself.
It is a story of scientific process. Hypotheses were proposed and tested, new ideas emerged, and vigorous scientific debates were held. Original thoughts were corrected and revised. During this stressful time of COVID-19, it’s good to be reminded that the honorably self-correcting process of science still leads to new knowledge and possibilities.
It is a story of technology. From slab gels to ABI sequencers, Affymetrix chips, Illumina beads, capillary electrophoresis, sequencing by synthesis, RNA-Seq, Ancestry.com, and CRISPR, it is a story of new ways of understanding the structure and behavior of genes—a story fueled by a combination of true curiosity, business rewards, and scientific glory.
It is a remarkable human drama. Firmly established in our scientific lore and history are Herbert Boyer and Stanley Cohen launching Genentech, Craig Venter and Francis Collins competing to complete the genome sequence first, Nancy Wexler striving to understand Huntington’s disease, Mary-Claire King discovering the BRCA1 gene, Henry Louis “Skip” Gates challenging folks with their true heritage, and a cast of scientific luminaries racing to be the first to describe and patent CRISPR.
For those of us who remember the first generation of sequencing gels, it is astonishing to see what we know now and how fast it has happened. But as well as we have done with the As, Ts, Gs, and Cs, we have done far less to grapple with the equitable use of genetic data. As Alondra Nelson, author of The Social Life of DNA: Race, Reparations, and Reconciliation After the Genome, said in her plenary address at the American Association for the Advancement of Science (AAAS) meeting last year, there is a “lag between developments in science, technology, and medicine, and society’s full appreciation of both the potential harms and goods that these developments might yield, including the fact of these harms often having disproportionate impact on marginalized communities.”
This week’s special issue deals with all of this. AAAS President Claire Fraser, who played a key role in the public human genome project, points out in an editorial how important the online genomic resources have been for all of science—including research done by individual investigators. Elisabeth Pennisi reports on the lag in sequence data from Africa and the worries that creates for equitable genome-wide association studies. Luis Campos reviews Narrative in the Age of the Genome: Genetic Worlds, which takes us through all of the social complexities of our genetic stories. Our latest NextGen Letters section highlights thoughts from young scientists about what DNA tells them about their heritage. A Perspective by Namandje Bumpus challenges us to confront the injustices brought about by a lack of diversity in clinical trials. And the Policy Forum presents short reflections by a set of experts on the science and implications of the genome after 20 years.
Science has had a front-row seat to all of this knowledge and history. It is a privilege to hear the stories from my colleagues who handled the papers and made decisions about how to document it all. But the story is far from over. Every time a new milestone is reached, it raises more questions than answers.