From Perspectives to Policies on Ethical Issues in Genetic Testing
By Dr Owen Schaefer, Mr Markus Labude & Dr Vicki Xafis
Centre for Biomedical Ethics
As basic and translational research into genetic testing and precision medicine receives increasing attention, funding and public support, there has been substantial international interest in addressing the Ethical, Legal and Social Implications (ELSI) of such novel interventions. There is general recognition that it is not enough to show that genetic information can improve clinical care; we must also be cognisant of the ramifications such testing may have on patients’ rights, familial circumstances, social position and economic situation. To this end, the Centre for Biomedical Ethics has recently been engaged in a series of empirical bioethics projects to better understand local stakeholder perspectives on key ethical issues on the ELSI of genetics. These projects not only increase our knowledge of public attitudes, but also can help shape best practices and sound policies as precision medicine moves forward.
Two key issues
The ELSI of genetics covers a wide variety of issues, but in our research we focused on two that have drawn considerable attention internationally: incidental findings and data sharing.
Incidental findings, as defined in local legislation, are findings potentially relevant to the patient or subject, but which are outside the purpose for which a given test was conducted. In genetics, incidental findings are primarily an issue for whole genome or exome sequencing, where researchers or clinicians generate information that pertains to far more biological functions and processes than the disease or condition that prompted the sequencing. Recent research suggests a rate of approximately 1.6% for clinically actionable genetic findings amongst Singaporeans. While this may appear low, the number becomes significant for ambitious projects to sequence thousands of genomes.
Returns of incidental findings have the potential to benefit those undergoing genomic sequencing. This may be through clinical action such as preventative medicine, aiding reproductive decision-making, or helping patients get a better understanding of their likely life outcomes so they can plan accordingly. But there are also risks. Some findings may be poorly understood and cause undue confusion and anxiety. Findings of propensity for disease in asymptomatic individuals with no family history may lead to false positives and overtreatment. And findings may have implications on insurance premiums, employment or other services: Singapore currently lacks the sort of genetic anti-discrimination protections present in other countries.
The second issue we are studying relates to data sharing. The advancement of precision medicine relies on large and diverse genetic datasets, linked with clinical and other data that can be used to derive insights on how genetics may affect disease outcome and treatment response. This has led to the creation of a variety of genetic data-sharing consortiums internationally, allowing researchers globally access to valuable data that no individual project could generate on its own.
But it is important to remember that genetic data pertains to people, whose privacy, interests and rights may be threatened by sloppy data management practices. Sharing with certain parties like insurers or data breaches where sensitive information is publicly released could cause undue harm to data subjects. Anonymisation has for many years been seen as a means to protect subjects, but re-identification is becoming increasingly feasible as data becomes richer and more interlinked. Data subjects have some interest in ensuring their information, which typically is provided without compensation, is used for public benefit and not private gain. Consent, however, for each instance of data sharing is impracticable, and so alternatives to consent may need to be developed.
The utility of stakeholder perspectives
Formulating ethical recommendations concerning incidental findings and data sharing is not merely a matter of sitting in an armchair and philosophising about the issues. Policies must be sensitive to the actual interests and priorities of the stakeholders involved – patients, subjects, clinicians, researchers and others.
This does not mean doing a poll and enacting policies based on whatever a majority says. Analysis and formulation of best practices requires a degree of expertise, time and energy that will not be possible in a 15-minute survey or 1.5-hour focus group.
Nevertheless, such understanding of stakeholder perspectives is a crucial component to inform that analysis and formulation. When a doctor considers, for instance, whether to report an incidental finding of increased propensity to develop an untreatable but life-threatening disease, it will be important to understand whether this is the sort of finding that patients and subjects would find valuable. If no one wants to hear about that sort of finding, this will be a good reason to withhold it. And when assessing data-sharing policies, an appreciation of the expectations of data subjects will help assess what sort of scope of data use is reasonable, given individual consent is not possible.
For this reason, we have conducted a series of focus groups and surveys of Singaporeans on their perspectives on incidental findings and data sharing. The results, while still under analysis, reveal a set of attitudes mostly in line with what stakeholders report in other countries, though with some differences emerging based on unique local contextual features such as the lack of genetic anti-discrimination protection mentioned above.
It is important for policies that are developed not to be purely derived from the parochial and idiosyncratic concerns of individual researchers or IRBs. The evidence we produce will enable those formulating policies to rely on the values and concerns that are held by the individuals most affected by those decisions.
Future research
While we are in the midst of producing preliminary recommendations based on our findings, work continues on further understanding and exploring stakeholder perspectives, which can in turn further inform and help refine policy approaches. The next phase of our research, funded by the Social Science Research Council, involves going beyond surveys and focus groups, to a deep-dive investigation into ethical data-sharing using Citizens’ Juries. Whereas focus groups are limited by time and how much one can expect stakeholders to understand complex issues, Citizens’ Juries are convened over several days and allow deeper, more informed and extensive reflection on the ethical questions at hand. Jury members will hear evidence, deliberate internally and ultimately produce a concrete response to a particular question prompt. As with the above, actual policies should not simply defer to whatever jurors produce. But the outputs will be more informative and useful in determining how stakeholders would assess an issue when they are well-informed and have time to carefully consider the issues.
These investigations are part of a bigger picture goal of formulating governance policies that will earn the trust of stakeholders. Lack of trust can torpedo even scientifically robust projects with substantial government backing, as happened in the UK with the now-defunct care.data project. If precision medicine is to be successful in Singapore, it will need to earn public trust by developing governance structures that the public can have confidence in. Our project will shed further light on what stakeholders want out of such structures, and how they can best be designed to protect and promote the things they value most.