Will volunteers to advance genetics be punished with discrimination, denial of medical insurance, and/or loss of employment opportunities?
Last night, I entered intimate personal health information into a database that can be accessed by anyone. This is not a decision that I made lightly. I shared my information with the Personal Genome Project (PGP) at Harvard Medical School. Founded in 2005 by Dr. George Church, the PGP represents an ideal, a vision of effecting ultimate progress in DNA science through the generosity of participants willing to expose personal data for a greater good. Before Covid-19, the PGP used this data for open-source research projects to further our understanding of human genetics, biology, and health. The PGP will now singularly focus on Covid-19, studying both those who have the disease and those who don’t.
Their strategy is uniquely advantaged, as the PGP has already collected its participants’ DNA. Ideally, all subjects who have agreed to participate in this open-source project have already entered all varieties of medical information, from static measures of height, weight, and blood type to information collected over years through contacts with physicians and medical systems.
The grand scheme is to connect genotypes (obtained through whole-genome sequencing) to phenotypes, expressions of traits, health, and disease history. In the end, genome sequencing is only as useful as our ability to associate it with clinical meaning over the lifetime of an individual.
The PGP has now made a commitment to aggressively address Covid-19 by sending out frequent, detailed questionnaires about volunteers’ current experience with all aspects of the disease, from the presence of mild symptoms to eliminate the frank expression of the disease, its treatment, and ultimately its outcome. The survey also includes questions about medications taken for non-Covid-19 medical disorders.
The PGP is also accepting new volunteers who are willing to download results of whole-genome sequencing obtained through any source. They do not perform sequencing themselves but rather collect data, both genetic (from whole-genome sequencing) and medical (from personal narrative histories). They also gather formal medical reports with laboratory and radiologic findings, and then use the most cutting-edge analyses to understand associations and correlations.
Our world has become a giant laboratory, a mad experiment in which we are all unwitting subjects. We must pay scrupulous attention to conducting good science and generating data through cellular studies as well as psychosocial analyses of individuals and communities.
We understand so much about this virus and about human behavior. But in the end, we understand nothing that fully protects us all.
The novel virus causing Covid-19 stimulates an infinity of questions. Initial public health efforts have focused on viral transmission in order to stem contagion. But we must also pay attention to how the virus functions within individuals. And that is where the science of genetics plays a critical role.
Genetics might help us answer key questions – who is most vulnerable to infection, who may be resistant, who is most susceptible to fatality, who may respond to particular medications, and who carries the virus without symptoms?
These complex questions may take years to resolve. We still do not fully understand the nature of other lethal coronaviruses, SARS (2002) and MERS (2012). Meanwhile, the PGP’s small group is approximating the beginnings of answers, which later cohorts of scientists, with more sophisticated protocols, will hopefully resolve.
My personal calculus is that today, collective good trumps individual autonomy.
Unlike direct-to-consumer genetic testing companies, whose policies are not obviously transparent to customers, the PGP makes it clear that they offer no guarantees regarding anonymity, privacy, or confidentiality. Their lengthy consent process requires participants to score a perfect 100% on a test that assesses their understanding of risk.
The epitome of informed consent, their final disclaimer: “More nefarious uses of your DNA are possible… It is impossible to anticipate risks related to future technologies and techniques.”
So why would anyone, why would I, agree to sign such a dire document? We are in the throes of a global crisis. My personal calculus is that today, collective good trumps individual autonomy. We must use the DNA science of genomics aggressively in order to help solve vital questions. Researchers have initiated projects around the world. There are reasons Covid-19 affects some more than others, across ages, ethnicities, and gender. But we don’t know why. Yet.
What happens when we do?
If we knew who were most vulnerable – we could protect them through isolation, provision of food and shelter, personalized medical treatments, technological connectivity, and nurturing human contact.
If we knew who were carriers – we could champion humane quarantine while awaiting development of herd immunity, when it would be safer for them to emerge.
If we knew who were immune – we could encourage less stressful provision of direct care and service, as such individuals would know in advance that they would not become ill.
As scientists study personal genetics related to the coronavirus or other new viruses, there is significant risk that genetic information of research subjects will be compromised. The Personal Genome Project effectively promises that participants have no meaningful privacy. But what about the majority of subjects who are not so explicitly warned?
Genetics is not a solo sport. Any risk incurred by an individual is shared with biological relatives with common DNA.
The Covid-19 climate is exceedingly fraught with emotion, anxiety, and even terror around literal life and death issues. Every day, we witness irrational acting out of primitive fears, including xenophobia and prejudice. Will today’s genetic volunteers be punished with labeling, discrimination, denial of medical insurance, and loss of employment opportunities?
There is great power in the knowledge we may gain from the science of our DNA. But should those who are studied lose personal freedoms in the process?
Corporate entities will inevitably seize an opportunity to address this global threat. 23andMe has just entered the fray, and its privacy record is greatly problematic. This current pandemic will certainly not be the last. Given pressures to generate profit, private investment raises even more concerns about compromised ethics and privacy.
Massive surveillance and data collection of all sorts are necessary to arrest this pandemic. Genetic data is not the only private information at risk, but it is unique in its intimacy and its impact on others. Genetics is not a solo sport. Any risk incurred by an individual is shared with biological relatives with common DNA. Ethical quandaries were a minefield in genetics before Covid-19. Individuals have minimal and spotty protection. So, what happens next?
While these are indeed terrifying times, what is perhaps more terrifying is the prospect that we might not utilize these shared experiences to press the reset button and create systems that protect us all.
We must balance ethical responsibility to humanity while protecting individual rights, especially related to our genes. Legal and regulatory protections can be reformed. Like everything else these days, this will not be easy. But it is mission-critical. Just like good science.
Despite chaos, anxiety, and the extraordinary volume of competing work, ethics must remain our eternal golden thread.
article by Dr. Stangler published in OneZero, a Medium publication about tech and science, on 20 April, 2020.