At the end of the last millennium, the human genome sequence became an emblem of a struggle for justice. Public scientists from around the world fought off efforts to privatize the human genome. At my own university, the University of California, Santa Cruz (UCSC), computational biologist Jim Kent reportedly worked day and night in his garage writing code — stopping only to ice his wrists — to ensure that the public effort was finished in time to prevent genomics pioneer and businessman Craig Venter and his company Celera from owning “our common heritage.”
Today many UCSC scientists, as well as others around the world, continue their commitments to openness and justice. But the times have changed. Genomics is no longer primarily supported by public institutions. Rather, as in other areas of cutting-edge science and technology, the field is fueled by large investments made by private philanthropists, venture capitalists, start-ups, and major pharmaceutical companies. Turning a profit has become a primary concern, if not responsibility, of many. These new conditions have led to a world where genomic data may be accessible, but the medical treatments resulting from it may not. New immunotherapy drugs, for example, routinely cost hundreds of thousands of dollars a year, placing new strains on already-taxed healthcare systems, and potentially placing these drugs out of the reach of the many who do not have good health insurance.
Over the last 15 years, I have had the privilege of interviewing people from around the globe who have sought to make genomics valuable for more than the elite.
In the years after the sequencing of the human genome — the post-genomic era — worries that investments in genomics might inadvertently work against providing better care for all became a defining concern. Over the last 15 years, I have had the privilege of interviewing people from around the globe who have sought to make genomics valuable for more than the elite. They shared stories of people from all walks of life who urged them to ensure that this cutting-edge field of science and technology did not eclipse the broader needs of people and the planet. Residents of Macon County, Alabama, who were asked to participate in genomic studies, spoke of the lack of access to hospitals. Those in Ibadan, Nigeria, who were approached to take part in the International Haplotype Map Project (a large-scale genetic mapping effort launched in the early 2000s), requested support for a community health center. Residents of Scotland asked that government collection of their DNA and data, an effort called Generation Scotland, benefit the Scottish people. In some instances, the dedicated efforts of individual government employees, genome scientists, bioethicists, social scientists, and lawyers resulted in concrete responses. The National Institutes of Health (NIH), for example, provided support for expanding the hours of the community health center in Nigeria. And Generation Scotland created an agreement about benefit sharing.
However, in each case the gains were short term, while the problems persisted. Last year, residents in my San Francisco neighborhood asked leaders of the University of California, San Francisco (UCSF) how they could invest so much money in the new Mission Bay campus, a hub for precision medicine research, while closing the last full-service reproductive health clinic serving poor black and Latino youth in San Francisco. As a petition posted to the Color of Change civil-rights advocacy website put it: “The message the city of San Francisco and the University of California San Francisco are sending is blatant: money matters, not Black and Brown lives.”
Last November, National Public Radio ran a series on the decline in access to care for those living with sickle cell anemia. Existing treatments for this disease, which affects 100,000 people in the U.S. — almost all African-American — are hard to access. Life expectancies have fallen an average of four to five years over the last two decades. Further, despite its status as the first “molecular disease” (that is, the first genetic disease to have its biochemical cause identified), there are still no FDA-approved molecular approaches to treating it (although new gene-therapy approaches are entering clinical trials, they are likely to be expensive).
When I have asked about these deeper problems of access to care — ones that raise questions of justice, questions about the first principles and goals that should guide public efforts to secure the health of citizens — scientists and ethicists alike typically respond by telling me that it is not possible to address them. The NIH is in the business of research, not health care. Allocation of resources and meeting basic health needs are important, but they are not things it is possible for them to change from within their institutions.
It is time, as the UCSF billboards that dot my hometown tell me, to “redefine possible.” It is time to address the critical contemporary questions of justice that genomics raise.
In particular, we can and we should revisit the Belmont Report, a document that summarizes the ethical principles that guide all human subjects research in the U.S., and convene a new national commission to focus on its third principle: justice.
This new commission could at a minimum address the following three questions. First, what are best practices for gathering diverse members of our communities and nations together to forge methods that will ensure that investments in science and technology benefit more people and more diverse populations? To answer this question, the commission could first review the many efforts made over the last two decades to engage and consult publics on emerging forms of science and technology — in particular, genomics. From Tuskegee, Alabama, to Edinburgh, Scotland, to Ibadan, Nigeria, what have we learned? While the NIH, the Wellcome Trust, and other national funding bodies have invested millions in public consultations and engagements, to date, few resources have been devoted to studying and evaluating their outcomes.
Genomic breakthroughs in biomedicine today are upon us. We must ensure that as many people as possible benefit.
Second, the commission should ask how public dialogues can contribute to policy change. As many indigenous rights activists and scholars asked to participate in deliberations about genomic research have repeatedly argued, speech without action is another form of oppression; it requires labor, but delivers no enduring change. Initiatives, such as the All of Us Research Program, should build in public engagements that clearly link to mechanisms for changing policies. When the Human Genome Project first launched, the U.S. had an Office of Technology Assessment that could help facilitate these connections. It closed in 1995 as the result of a conservative critique of public government. Twenty years later, it is time to revisit the need for an institution that can support critical public deliberation about science and technology.
Finally, what is the relationship between innovation and inequality in science and technology? The growing gap between those who have and those who have not is perhaps the defining issue of these first decades of the 21st century. Genomics is not immune from the effects of this growing inequality. Time and again over the last decade, as people gathered, at government behest, to discuss the meaning of genomics in their lives, they asked what sense it made to do genomics research when basic health care was beyond their reach. Their question deserves our collective attention.
Genomic breakthroughs in biomedicine today are upon us. We must ensure that as many people as possible benefit. A concerted focus on this issue, as well as a call for funding bodies and ethical review committees to attend to the problem of public benefit, could go a long way toward ensuring that genomics continues its commitment to justice in the 21st century.