Scientists are increasingly developing and utilizing advanced technologies, such as genomic sequencing technologies, to study and interpret the human genome. To ensure the ethical and responsible integration of these and similar technologies, we are studying the ethical, legal and social implications of implementing these advancements by exploring the ELSI issues in biobanking, the clinical integration of whole genome and exome sequencing, genome and human microbiome research, as well as investigating policy challenges that accompany these new genomic technologies.
Genome Law and Policy
Our research in this area identifies existing laws and guidelines that may be applicable to genomic research and medicine to discern where gaps in regulations and policies have arisen or may occur in order to develop ethically appropriate recommendations for new approaches to these existing methods.
As genomic sequencing is rapidly being introduced into the clinical setting, in 2010 the National Institutes of Health requested proposals for a new initiative to develop a research program exploring the introduction of genomic sequencing technologies into clinical care and the ethical, legal, and social implications of doing so. The Clinical Sequencing Exploratory Research program brings together clinicians, genomic researchers, bioinformaticians, ethicists and other investigators to research the challenges of incorporating genomic sequence data in the routine practice of medicine in a variety of clinical settings. Each of the CSER multi-disciplinary projects consists of three integrated projects: Project 1 develops the study design to implement genomic sequencing technologies, whole genome or exome sequencing, into the clinical practice of medicine; Project 2 processes biospecimens and performs genomic sequencing and analysis of data; and Project 3 is the ELSI component examining the psychosocial and ethical issues expected to arise from this research. Our center faculty are leading the Project 3 ELSI components in two of these CSER projects.
For more information on the CSER program, visit the National Human Genome Research Institute’s website.
In September 2013, the NIH expanded clinical sequencing exploratory research projects to the newborn setting. Four pilot projects were awarded to examine the important question, “Can sequencing newborns’ genomes provide useful medical information beyond what current newborn screening already provides?”
Genomic data are rapidly being introduced as a resource available to parents and physicians to influence health care throughout infancy and childhood. Newborn screening is a large public health initiative, and the ethical issues of incorporating these new technologies during this period need to be assessed. Together with colleagues at Brigham and Women’s Hospital and Boston Children’s Hospital, center director, Dr. Amy McGuire is co-leading the ELSI component of one of the four funded projects exploring the integration of genomic sequence data in the newborn setting.
Biobanking and Sequencing
With the rapid growth of technological advancements in biomedical research, vast amounts of electronic data are being generated. In order to maximize their potential and further advance research and medical science, these data, which can be generated from blood, saliva, and other tissue and biospecimens, require indefinite storage and advanced computational tools to allow for future unspecified research and sharing of data. Given that the risks and benefits of this type of research are relatively unknown, we are interested in studying stakeholder perspectives as well as helping to develop and guide the ethical conduct of research in this realm.
Genome and Human Microbiome Research
As genome and human microbiome research studies grow in numbers, so do the number of research participants enrolled in these types of research and the ethical issues facing these participants must be examined. Mandates for broad data sharing and indefinite storage of biospecimens for future unspecified research are purported to maximize data utility. However, these mandates pose potential privacy risks to participants and are scientifically complex to explain, making an adequate informed consent process an ongoing issue in these types of research. Our research focuses on potential and actual genome research participants’ perspectives of these issues.
The Human Microbiome Project, funded by the NIH Common Fund beginning in 2008, set forth to characterize the microbial communities found on the human body and to look for correlations between changes in these microbial communities and human health. The first phase of the HMP, completed in 2012, characterized and evaluated the genetics of the microbial communities inhabiting human nasal passages, oral cavities, skin, and gastrointestinal and urogenital tracts. The current phase of the HMP focuses on integrating rich datasets of microbial communities to further the scientific understanding of their role in human health and disease. We are currently providing ethical oversight for a recently funded study on the influence of the microbiome and other genomic sequenced data gathered in the neonatal period to identify markers for women at risk of preterm birth.
For more information on the HMP, visit the National Institutes of Health, Office of Strategic Coordination - The Common Fund
Citizen science generally refers to an approach in which members of the public participate in one or more steps of the research process. Citizen scientists are increasingly involved in the study of biomedical and genomic questions. This raises questions regarding how to handle ownership of research outputs, such as datasets, analyses, journal articles and inventions. Our research in this area aims to identify gaps in practice, policy, and principles relevant to ownership in genomic citizen science in order to develop best practices and policy recommendations.