The Human Code
Race and information in a genomic age
By Ian Evans 11/15/12
City on a Hill Press
When UC Santa Cruz researchers and graduate students published on July 7, 2000 the first record of a person’s whole DNA sequence, or genome, the field of genomics was still young. Utilizing a UCSC designed online DNA database, this international effort cost over $100 million and was known as the Human Genome Project (HGP).
That project changed the world.
“[The HGP] is the first time that humanity got its glimpse of the DNA message that had been passed on for so many aeons,” said David Haussler, UCSC professor of biomolecular engineering and director of The Center for Biomolecular Science and Engineering. Haussler introduced “Genomics Gets Personal: Property, Persons, and Privacy,” a recent panel on genomics which took place at UC San Francisco on Sept. 27.
Hosted by UCSC, panelists discussed the use of genetic information and its effects on society today.
Haussler was at the center of UCSC’s research in the HGP and its success in providing free genomic information online. Since then, the speed and cost of sequencing, or decoding, the human genome code of four proteins — A, T, C and G — has improved exponentially.
“The field of genomics and personalized medicine is moving at an extraordinary rate,” Haussler said. “What cost 12 years ago [an] excess of $100 million next year will cost $1,000. One hundred thousand times improvement in little over a decade … the social implications of that are enormous.”
Since the HGP, which was officially completed in 2003, UCSC has continued its renowned work in genomics, coming out with world famous research and technology including the Cancer Genomics Hub (CGHub), a database developed by Haussler to store genomes of cancerous tumors to better understand what causes different types of cancer and how to treat them.
“Genomics is a huge subject at UCSC,” said Brandon Allgood, UCSC alumnus and director of computational science at Numerate Inc., a drug design and technology company. “It is a world leader in some respects.”
Allgood said one of the reasons for the university’s leading role in the field is its commitment to interdisciplinary studies, especially between the sciences and social sciences. Jenny Reardon is at the forefront of connecting those subjects.
Reardon is a faculty affiliate of the UCSC Center for Biomolecular Science and Engineering (CBSE) and the creator and co-director of the Science and Justice Research Center at UCSC, a community dedicated to bridging the gap between the sciences, social sciences and humanities. She is the author of “Race to the Finish: Identity and Governance in an Age of Genomics,” which covers the history and controversies that encircled one of the most controversial social issues in genomics’ past, the Human Genome Diversity Project (HGDP).
Separate from the HGP, the HGDP aimed to record the genetic variation within the human species by sampling genetic information from isolated human populations. By researching isolated populations, researchers hoped to track humanity’s early movements and settlements to learn more about the origin of the human species, develop drugs specific to diseases affecting certain populations and to study the enormous amount of diversity that exists among humans.
The project was quickly challenged by indigenous groups who were concerned that their genetic information, separated and categorized, would be misused in a way that would have a negative impact on indigenous communities. Justified by a history of past oppression and inequality, many indigenous peoples were concerned with the HGDP’s overall mission, communication efforts, as well as other concerns.
“In the long history of destruction which has accompanied western colonization we have come to realize that the agenda of the non-indigenous forces has been to appropriate and manipulate the natural order for the purposes of profit, power and control,” wrote members of the Indigenous Peoples Council on Biocolonialism, a meeting of indigenous leaders from the United States, several Central and South American countries and Canada, according to the Indigenous Peoples Council on Biocolonialism’s website. “We particularly oppose the HGD Project which intends to collect, and make available our genetic materials which may be used for commercial, scientific, and military purposes … We hold that life cannot be bought, owned, sold, discovered or patented, even in its smallest form.”
Reardon said the project came under scrutiny for, among other things, biocolonialism and racism.
“It was called the vampire project, a project interested in sucking the blood of indigenous people more than it was interested in their livelihood,” Reardon said, acknowledging the painful history of colonialism and eugenics, the widely rejected practice of promoting certain people or traits and rejecting, sometimes violently, less desirable people or traits. “The trauma of the past has been strong.”
Reardon said this was not the intention of the scientists involved and that the scientific community has worked hard to address these concerns.
“These well meaning scientists, many of whom, like Mary-Claire King, were committed to issues of human rights. Bob Cook-Deegan was a member of Doctors Without Borders,” Reardon said.
Robert Cook-Deegan is a research professor in genome ethics and law and policy at Duke University and author of “The Gene Wars: Science, Politics and the Human Genome.” When the HGDP first began, Cook-Deegan played a major role in the project and in one of its first controversial encounters with society.
“We made one pretty big mistake in the original paper that proposed doing what became known as the HGDP,” Cook-Deegan said. “I think I’m the person who put the term ‘vanishing opportunity’ into the title of that paper, and in retrospect that was a pretty stupid turn of phrase.”
Cook-Deegan said it was unintentional that the term implied that collecting data from dying populations was more important than actually helping them survive.
“The foreseeable consequence of that terminology ‘vanishing opportunity,’ was that [people thought we believed] it was more important to study human origins than to right the wrongs and to focus on human rights. And of course we don’t believe that, but we didn’t explicitly say that, and we should have,” Cook-Deegan said. “I did view that as a mistake.”
Even as the field of genomics still reels from its controversial past, it continues to pervade society and bring to light new concerns.
With the completion of the Human Genome Project, the cost of sequencing genomes dramatically decreased as technology became cheaper, faster and better. This has allowed more and more data to pour in, but one of the biggest questions posed at the panel and that genomics faces today is: who gets to look at all that information? Should it be exclusive to the experts or be open to everyone?
“There are two philosophies,” said Cook-Deegan, who was one of the four panelists. “One is, share only the stuff that we kind of know how to interpret now, and that is under the framework of ‘this is a great big genetic test’ … People who are used to the way of the web, and the way that we think about information now don’t like that because there is an intermediary there who is deciding what information is shared with the individual.”
Ryan Phelan, another panelist and the creator of DNA Direct and founder of Direct Medical Knowledge, what became the backbone to the online medical site, WebMD, said people have never had open access to information in such a way.
“What has happened is the internet. What took 30 years to get WebMD to be ubiquitous, it is now going to take us 5–10 years to get genomic information ubiquitous,” Phelan said. “There’s a whole continuum here of information to the patient, to the doctor, for decision making or for research.”
Panelist Gail Jarvik, the head of the department of medical genetics at the University of Washington School of Medicine, said in her experience, access to uncertain or unknown genetic information can be harmful to patients.
“I have had very unhappy experiences with just giving people variants of uncertain significance back for breast cancer and having their doctor decide to take off their breast,” Jarvik said. “Even though I very specifically said, this is likely to be benign, I don’t think this is a breast cancer causing mutation, the doctors say well you have breast cancer, you have a mutation in your breast cancer gene, off with your breast.”
However, John Wilbanks, a panelist who runs the Consent to Research Project, which gives people an easy way to donate their health data to a database for researchers to use and analyze, said although there will be mistakes as genomics moves forward, the data will be public with or without the consent of experts.
“As people who are sick or have family members who are sick can access these technologies outside of the institution, they’re going to,” Wilbanks said. “A lot of bad decisions are going to be made as a result of that but if you are not part of the existing clinical research system anyway, this is a ray of hope.”
More progress can be made by making genomic data easy to donate and available to the public on free databases, Wilbanks said, than by allowing only a select few scientists to access it.
However the information is accessed, there is money to be made in the future of genomics. Drug companies are already scrambling to get ready to provide customers with sequencing technology and drugs developed to be effective for genomes.
Phelan spoke about the Chinese genome sequencing company BGI–Shenzhen’s acquisition of Complete Genomics, another genome sequencing company based in Silicon Valley. He said corporations are already bracing for the future of genomics.
“These are companies, large companies making big plays in the translation of these technologies into the consumer market,” Phelan said.
As far as the future of personalized genomics goes, Cook-Deegan said he is cautious about making predictions. People will get their genomes sequenced, but why? And what will happen to that information? That, he said, remains to be seen.
“We’ve got all these reasons [for getting our genes sequenced]. We’ve got pharmacogenetics as a reason, we’ve got ancestry as a reason, we’ve got genetic risk of a foreseeable condition as a reason to get your genome done, and you’ve also got the fact that it’s a cool thing to talk about at cocktail parties,” Cook-Deegan said. “That’s what’s driving it right now, but we’re going to move beyond that.”
As for the social issues, Haussler said there will continue to be important debates about how genomics can best be integrated into society.
“I can only do my research in the context of society,” Haussler said. “It is absolutely necessary that we have a social contract — that society understands the value of the research so that it is maintained, funded and enabled. A lot of this, from a society’s point of view depends on what the benefits of genetic research are. As those grow, I think that a compromise will become more obviously necessary. When personal genomes are really saving lives and really helping people live fuller, longer, better lives, healthier lives, compromises will be made on some of these social issues.”
*In the original print version of this story, Mary-Claire King’s name was spelled Mary Clair King. This was corrected for this online version*
Assistant Director of the S&J Research Center Jacob Metcalf and longtime friend of S&J, Thom van Dooren (University of New South Wales), co-edited an edition of Environmental Philosophy (9:1) titled Temporal Environments: Rethinking Time and Ecology. The collection of essays addresses the role that temporality, or lived time, should have in environmental philosophy, and especially ethics. The role of time in environmental ethics has largely been restricted to an empty container for human agency to do good or ill. By understanding time as material, produced, constructed, maintained, lived, multiple, and a more-than-human concern, the authors in this collection are able to ask which times are liveable for humans and non-humans alike. This topic grew out of Science & Justice discussions, especially the Slow Science event in Fall 2011.
Lindsay Kelley (Public Library of Science), an early member of the Science & Justice Working Group, and Lynn Turner (Goldsmiths) co-edited an issue of parallax (19:1) titled bon appétit. This issue includes a contribution from S&J Assistant Director, Jacob Metcalf, on the ethics of cultured meat and the stories we tell about technoscientific advances. bon appétit explores the limits of eating, confronting the boundaries between self and other, filth and food. At the time of writing escalating food costs – especially as linked to climate change – provoke daily crises, demonstrating the urgency of a wholesale rethinking of the matter of what, how and who we eat. The essays engage different strategies and target different aspects of this erstwhile basic need.
Forthcoming shortly as a special issue in Science Technology & Human Values, S&J advisory board member Laura Mamo (SFSU) and Jennifer Fishman (McGill) have collected articles on the Entanglements of Science, Ethics and Justice. This issue grew out of a conference about topics in science and justice at SFSU, including an article on genomics and justice by Jenny Reardon, co-Director of the S&J Research Center.