Furthermore, the amount and complexity of statistical information that genome-wide screening and sequencing generate makes it difficult for individual patients to assimilate and interpret, which risked simply encouraging patient confusion rather than empowering more responsible health-related decisions.
As a result, critics argued that the rhetoric of personalized medicine overpromised the potential of genomic information to provide individualized health recommendations that clinicians and patients could meaningfully use to manage health outcomes. Interpreting this information sensibly requires even more professional involvement than an individual genomic scan, making claims to patient empowerment even more hollow in this context.
If precision medicine primarily provides tools for physicians, it is clear that clinicians should bear more responsibility for making decisions about their use. This shift in ethical priorities was reflected in the first round of professional policymaking debates about the clinical use of genomic sequencing related to opportunistic clinical identification and disclosure of genetic risk markers without specific patient consent. Dogging the heels of precision medicine are efforts by public health officials and health care institutions to rebrand the biomedical uses of translational genomics as a feature of precision health.
The reorientation of translational genomic research towards public health goals raises two particularly important professional ethical and social policy questions.
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The first is the danger of interpreting information about genetic variation across populations in ways that reinforce culturally situated or politically constructed social categories like race, ethnicity, and nationality. The second danger posed by the adoption of public health goals for translational genomics flows from the logic of prevention itself. Traditionally, early preventive interventions have been seen as the most efficient and effective forms, and the goal of public health research has been to identify interventions that allow people to avoid exposure to the causes of morbidity entirely.
Finally, another trend under the precision health banner has been to bring what translational genomic research learns about population-level variation back to individuals through prescriptions for health promotion and wellness beyond the management of disease risk. These beneficial genetic variants include those linked to unusual resistance to disease, 29 alleles associated with above-average longevity and good health, 30 and genetic predictors of high levels of physical and cognitive performance.
If, like the NASEM, we include strengthening the body to resist disease as a medically appropriate form of prevention, 34 then any gene editing research aimed at inserting variants associated with phenotypes at the desirable extreme of health-related functioning—such as superlative immune response, outlier tissue regeneration capacities, or world-class tolerance for environmental toxins—might be legitimized if those variants were understood to be more protective against disease than their normal versions. The marketplace is already populated by the scores of wellness genomics labs that currently offer commercial testing for putative beneficial genetic variants—from exceptional HIV resistance 36 to athletic talent 37,38 —and their financial future is said to be bright.
If the paternalistic emphasis of precision medicine, the essentialism of precision prevention, and the perfectionism of wellness genomics go unnoticed and unchecked, precision health risks becoming merely another step on the road towards a new eugenomics that society could come to regret.
Bashford A, Levine P, eds. The Oxford Handbook of the History of Eugenics. Juengst E.
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Concepts of disease after the human genome project. Health, Disease and Illness: Concepts in Medicine. Comfort N.
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Big data, from computer models to clinic, is focus of conference
Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing.
PLoS One. Khoury MJ. The success of precision medicine requires a public health perspective. Genomics and Health Impact Blog. January 29, Accessed July 11, NIMHD transdisciplinary collaborative centers for health disparities research focused on precision medicine U Published May 20, Accessed July 26, Faust H, Menzel P. Prevention vs. Treatment: What is the Right Balance?
From Chance to Choice: Genetics and Justice. University of Michigan. Precision health. Accessed March 19, About precision health. So, beyond simply helping us identify priorities, it helped us connect those priorities to members of the community whom we could call upon to help us develop the priorities. What are the implications of having a more nimble and flexible funding infrastructure? This led us to propose seed grants for new and risky ideas. We are also putting in place what we are calling pioneer grants to take discoveries to the next level, to scale them.
There was also strong interest in creating shared resources and infrastructure. Similarly, in biomedical research, we have advanced microscopes that no one faculty member can own and operate, that you have as a resource for all faculty.
A lot of this is about the plumbing of research. In addition to that, of course, there are some thematic areas that came through loud and clear, that dovetailed with our sense of what was important in the world today. That led to eight research initiatives in four categories that we believe are areas of high impact where we see huge opportunity and huge need. The initiative on human-centered artificial intelligence seems to be one Stanford could lead, given its history in technology transfer.
Could you talk a little about that?
Machines can now do that. And the applications are enormous. Take medical diagnosis.
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An algorithm has been developed at Stanford to look at skin lesions and determine whether they are malignant or pre-malignant. Is this a melanoma or a carcinoma, or is it just a benign skin lesion? That can be done now more accurately by a machine than by many specialists.
There are practical and ethical considerations for the applications of these technologies, and we have to think through the potential consequences on society.
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Driverless vehicles are being enabled by artificial intelligence and the use of sensors, and this has the potential to be profoundly enabling to society on one hand, but to reconfigure the job landscape for people on the other. Getting ahead of these societal consequences of those developments is important. So, the artificial intelligence initiative involves both trying to maintain Stanford at the leading edge of technology development, but equally making sure that the technology is human-centered, that we control the robot rather than the robot controlling us.
Realistically, what can Stanford do to mitigate those concerns? The first was to roll out some near-term initiatives to help. For faculty, an immediate step was to augment our mortgage programs [which include low-interest loans and other benefits to enable housing purchases]. And then for staff, an enhanced salary program, an expansion of the satellite work program, the work-from-home program.
These are all just near-term things that we can do, essentially with the stroke of a pen. So, we thought it was better to put together an affordability task force that includes all those different elements: salary, benefits, transportation and housing. We are asking the task force to think boldly because the magnitude of the problem is sufficiently great that incrementalism is not going to do the job. The nature and quality of intellectual discourse is a recurring theme nationwide, and there are new efforts at Stanford to foster dialogue across the ideological spectrum.
How is that going? We would not be serving our students well if we did not expose them to different opinions so they can think for themselves what their position is on the issues. A diversity of opinions is essential for research as well. We know that to get at the truth you often have to consider the unpopular issue or an idea that may appear silly to some.
Think of theories like quantum mechanics that were very counterintuitive at the time, or general relativity.
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