The genomic revolution, ushered in by the completion of the human genome project in 2003, promises to deepen our understanding of human life. Many scientists hope that by undertaking genomic sequencing of large swaths of the human population we will be able to shed light on such diverse areas as the history of the species, the conspiracy of environment with the genome, and the genetic idiosyncrasies of drug metabolism.
Encouraged by these prospects, large-scale genetic databases, or biobanks, were created worldwide to take advantage of the skyrocketing efficiency of high-throughput genomics techniques. Research universities, pharmaceutical companies, government organizations, and private corporations have launched initiatives to found repositories of biological samples, many of which exist as isolated silos contained within their respective institutions.
Some biobanks focus on a particular disease process or condition, such as breast cancer or inflammatory bowel disease. Others are prospective population-based collections that aim to uncover the peculiar predispositions of a specific ethnic or geographical group. For either project, biological material must be matched with clinical and ethnographic information, such as medical records and lifestyle information. And the larger the sample size, the greater the statistical power, and the wider the genomic and clinical variation. This has engendered a movement to liberalize the access to biobanks for research purposes.
A leader in this area is the Global Alliance for Genomics and Health, an international, nonprofit alliance based in Toronto, Canada, which has called for a framework to facilitate responsible and effective data-sharing among independent “siloed” databases. They have put forward an open-ended approach, known as the “Beacon Project,” to simplify and standardize the means of sharing biomedical data via the internet.1 One problem for this project is the ethics of large-scale genomics research.
As biobanks proliferate, the ethical challenges loom large, with concerns that extend beyond the traditional domain of research ethics. These have been addressed by governing organizations, both national and international, but no consensus has been reached.2
Problems related to informed consent typically top the list. Consent is an intuitive concept meant to respect the right of the person over his or her bodily material and genetic information, and there are a number of novel complications with genomic research.3,4 For example, not all future uses of the data are known at the time of consent. Advances in technology, biology, and medicine continually open new realms of research, often in unexpected ways.
Limiting the use of biological material to the terms of consent from a bygone era, however, seems to be excessively restrictive, precluding the use of extremely valuable and irreplaceable material. Yet returning to the individual that donated material for biomedical research each time a new use is identified is wholly impractical in most cases. The “opt-out” option turns a blind eye to the issue of consent: a practical stop-gap to a thorny problem.
Another issue pertains to safe-guarding the sensitive genetic and clinical information critical to the biobanking enterprise. The genome is a well of powerful information. It can reveal predispositions to mortal conditions for the individual and his or her children. It can disclose secrets about the individual’s heritage. It also contains information that cannot be deciphered with today’s technology that may be considered sensitive in the future. The potential for misuse is high simply because the data are so revealing and poorly understood.
Who should have access to such information? When should sensitive information be reported back to the individual once discovered? The routine practice of anonymization can mitigate some of the issues, but this takes control away from the individual, while allowing the continued use of his or her material now and in the future. This raises interesting questions about the status of genetic information, often described as lying somewhere between property rights and personal rights.
A Privacy Test
The sensitive nature of genetic and clinical information poses a significant ethical challenge to sharing data. Not all of it, however, is equally sensitive: a history of sexually-transmitted diseases, domestic violence, or mental health, for instance, may be more sensitive than an individual’s finances or geographical location. And although most data are anonymized in biobanks, re-identification happens intentionally and unintentionally. A practical remedy and perhaps the first step to facilitating data-sharing may be the development of a method to parse data by level of sensitivity.
McGill University researchers Dr Stephanie Dyke and colleagues have taken on this challenge.3 They propose a “Data-Sharing Privacy Test,” a practical approach to identifying the most sensitive health-related data. It is composed of 3 main factors: the sensitivity of the information, the expectations of the individual with respect to the data being shared, and the probability and gravity of potential injury from possible re-identification of the data, intentional or not.
They define sensitive data as “data whose improper use, including unwarranted disclosure, could reasonably be expected to cause serious physical or moral harm, significant financial loss or excessive personal distress to the data subject and/or related others”. They lay out a list of 14 categories of sensitive data, including ethnicity, mental health, substance use, sexually-transmitted diseases, and reproductive care.
The categories that pertain to clinical care are routinely encountered in clinical practice and pose few new ethical conundrums in this context. Problems unique to the sharing of genomic information, as well as the unaddressed fact that the relevant players now include governments and private corporations are, however, of concern.
The authors describe several points-to-consider for genetic data, which can be boiled down to 3 main considerations: the severity of the genetic condition, whether the genetic condition is associated with stigmatizing information (for example, mental health, reproductive health, or a certain ancestry), and whether the genetic condition is heritable.
The challenge, as the authors admit, is whether this general framework can be a dynamic instrument to be used effectively not only in different societies, but also to respond to future developments in science. This challenge notwithstanding, other issues of informed consent and of regulations regarding the involvement of government organizations and private corporations remain to be satisfactorily addressed.
The greater interconnection of biobanks and researchers leads not only to enhanced statistical power, but to greater genetic diversity, expanding the number of people affected by this grand project. Embracing all the myriad variations of the human genome should, in theory, lead to rewards that all can share.
- Global Alliance for Genomics and Health. GENOMICS. A federated ecosystem for sharing genomic, clinical data. Science. 2016;352(6291):1278-80. doi: 10.1126/science.aaf6162
- Elger B. Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics? New York, NY: Routledge; 2010.
- Cambon-Thomsen A, Rial-Sebbag E, Knoppers BM. Trends in ethical and legal frameworks for the use of human biobanks. Eur Respir J. 2007 Aug;30(2):373-82.
- Cambon-Thomsen A. The social and ethical issues of post-genomic human biobanks. Nat Rev Genet. 2004 Nov;5(11):866-73.
- Dyke SO, Dove ES, Knoppers BM. Sharing health-related data: a privacy test? NPJ Genom Med. 2016 Aug 17. doi: 10.1038/npjgenmed.2016.24 [Epub ahead of print]
This article originally appeared on Cancer Therapy Advisor