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.