Vince: Can you keep a secret?
Mitch: Yeah.
Vince: So can I.
The best way to keep any secret is likely to entrust it to no one. That exchange came back to me recently as I read Genetic Testing on the BBC. The BBC contends that genetic sequencing for the masses has arrived. It notes that "the first human genome sequence took 13 years to complete and cost around $2.7 billion." However, today individuals are having their personal sequence mapped for about $600. Some less sophisticated testing is being performed for only about $60.00. The result of the plummeting cost, it contends, is that "the era of personalised (sic) medicine draws closer."
There are two aims of such testing. First, the origins and risks of various diseases can purportedly be isolated and studied across populations of patients. This may provide wide-population benefits in prediction, diagnosis, and treatment in general terms. But, the individual element may allow scientists "to create personalized medicine based on individuals' particular genetic quirks." That is a medicine designed specifically for one patient either in formulation or perhaps merely in dose.
Credit is due to those who pioneered the genome mapping process. That certainly was significant work. However, it is likely that technology innovators and the development of artificial intelligence should also be acknowledged. As the BBC notes, the individual testing is resulting in "enormous datasets," called 'biobanks," and they are being analyzed and categorized by computers and artificial intelligence programs.
There are three concerns with this testing discussed by the BBC: patient privacy, patient reaction to testing, and diversity within the results in these "biobanks."
The individual mapping may reveal our deepest secrets, secrets that we likely do not even know ourselves. This could range from predisposition for certain maladies to the rate at which a particular person may "metabolise (sic) medicines." From diagnosis to how we might each respond to treatment, our genetic makeup may hold the keys to better medical treatment. If not "better," at least "better informed."
And, when we seek that knowledge for our own individual diagnosis or treatment benefit, the results may also become part of large studies or datasets that could be accessed in the process of diagnosing or treating others. There are those who may find that prospect disconcerting or concerning. That data could become accessible beyond our personal comfort. There are implications discussed in Science, the Right to Privacy, and Big Brother.
A second concern discussed by the BBC is more personal. It is entirely possible that one might live a lifetime with a "risk" of disease or malady and yet never develop that condition. While our genetics play a role in illness, there are also various lifestyle factors that may also play a role in various circumstances. The BBC notes that informing a patient of a "genetic predisposition" therefore necessarily "requires care."
Because there is the potential for predisposition news to impact a patient, companies that perform this DNA testing are taking precautions in the process. There are specific disclosures and "informed consent," seemingly to prepare patients for the distinction between predisposition and actual disease potentiality or eventuality. And, there is a practice of confirmation of results through "a second (test) sample."
The third concern is with the broader application of this technology. The BBC notes the claims of success in identifying predisposition. It notes, however, "a potentially serious problem is emerging." This is a concern with "disparities in health data," that result from a focus group that is genetically narrow. It turns out that most of the study that is ongoing is "disproportionately slanted towards populations of European descent." Thus, what is being learned is seen as too narrowly focused.
The BBC quotes some involved in this testing phenomenon as suggesting that additional data from "non-Europeans" would assist scientists as it would provide data on "more variations" in genetic information. This seems to suggest that while there is benefit in larger groups of data, often the case in statistical analysis, there may also be benefit in the variety or diversity of the population of that data group. Thus, the criticism of too little DNA testing on non-European patients for inclusion in these data sets.
The story notes that efforts to include "non-European" populations, including "African-Americans, Hispanic/Latinos, Asians, Native Hawaiians, Native Americans, and others" has led researchers to note "27 new genomic variants associated with conditions such as blood pressure, type-2 diabetes, cigarette use, and chronic kidney disease." Thus, the inclusion of increasingly diverse samples and results might be expected to result in greater opportunities for the identification of variants and further the prospect of individualized patient care.
Interestingly, the analysis of human DNA has previously yielded the conclusion that all humankind came from Africa. Discover noted in 2016 that We are all Africans. That article explained that from scientist's knowledge of origins gleaned from DNA significant conclusions were drawn. However, much of that data was again "mostly Westerners and East Asians." Therefore, scientists found the data somewhat likely to provide recurrent results. That we all have some DNA similarity is not so surprising. That we have developed various differences and distinctions is perhaps more so?
A group endeavored to glean data instead from "more remote populations" to discern distinctions. From those distinctions, scientists hope to learn about the "evolutionary history" of mankind since that origin in Africa. And, despite the success of their efforts described in Discover, they concluded that "there are still many things to be learned."
It seems that conclusions regarding the human species generally can be as validly applied to the study of our individual DNA. In light of the rapid decline in the cost of DNA sequencing, perhaps the future will bring further cost reductions, and the gathering of our information will become ubiquitous. One quoted scientist potentially foresees a time "when babies are routinely genetically profiled at birth." While that may be of broad societal benefit in terms of broadening and enlarging the "datasets," it may invariably lead to some loss of our individual privacy. That it could become an institutionalized practice may perhaps raise anxiety about Brave New World (Aldous Huxley, 1932).
The BBC article touts that this DNA testing path leads us to more personalized medicine. The scientists quoted perceive benefit to this progress. Regarding the increasing propensity for such data gathering, one expert is quoted asking "Because why wouldn't we?" Some might want to mandate reading Brave New World in pursuit of answering that question as a society. But some may answer that question personally from more of the Vince perspective; some may find the idea of databases crammed with their individual DNA, their very makeup, to be less than an appealing idea. Will the "greater good" override the interest in privacy? Or, will it be our self-interest that does so?
Will this play out the same in an American society with constitutional privacy recognition as in other world societies? Will we trade our privacy for efficacy or efficiency? In the end, will our desire for self-preservation really be any counterbalance to our fears of privacy? What societal impact might come from the knowledge of our individualized pre-dispositions and risks?
Bob Dylan noted years ago: The Times They are a-Changin'. That seems perennially true. In one lyric he cautions us to "not criticize what you don't understand." Though that line there is more of a caution to allow youth a say in matters, in the present context we might take it as an encouragement for us to each learn more of the potential perils and benefits of both learning of our personal DNA and having it cataloged for the world to see. "Oh, brave new world" (Shakespeare, The Tempest, Act 5, scene 1).
