Recent technological developments have made it possible for scientists
to sequence an entire human genome, but these advances may be a mixed
blessing. While much has been made of the benefits of whole-genome
sequencing, from improved disease diagnosis to rational drug design,
the impacts on the privacy and autonomy of individual participants has
received much less scrutiny. In a new essay Timothy Caulfield and his
colleagues argue that the ability to sequence a person’s entire genome
has created a whole new set of moral challenges that standard research
ethics guidelines were not designed to solve.
Several aspects of whole-genome sequencing challenge existing
research ethics norms. Some of the most pressing ethical issues arising
from whole genome research include the vast amount of data produced,
the uncertainly regarding future research uses of the data,
implications of the data for family members, and the technological
ability (and expectations) to publicly release the data. To date, very
little effort has been put into providing new ethical standards to
address these unique challenges.
With an eye toward remedying this oversight, Caulfield et al. offer
a consensus statement aimed at providing "ethically rigorous and
practical guidance for investigators and research ethics boards." The
consensus statement, a product of a workshop involving an
interdisciplinary panel of eminent bioethicists, lawyers, and
researchers, tackles the central issues facing whole-genome research:
informed consent, the right to withdraw from research, the return of
results, and the public release of data. In each case, the authors
argue, the public dissemination of collected data presents challenges
to the standard methods researchers use to protect participants’
privacy and autonomy.
In whole-genome research, participants quickly lose control over
access to their personal information, and they run the risk of "genetic
profiling." Protecting participants in whole genome research studies
requires updating informed consent to include information about future
use, the limited ability to withdraw information, disclosure of
research results, and the potentially wide distribution of personal
Central to Caulfield et al.’s recommendations is the use of "robust
governance and oversight mechanisms." Review boards must play a much
larger role in genomic research than it has in other areas, the authors
argue, "in part because the unique challenges associated with the
research make it impractical to satisfy the norms, tools, and processes
usually utilized to respect autonomy." Even if controversial events are
rare, responding to these concerns is essential, they maintain, because
"history has told us that they do occur and can have a devastating
impact on public trust and the research environment."
Fully acknowledging that many related policy issues also warrant
attention–including commercialization and patenting, for
example–Caulfield et al. urge immediate action on whole genome
research ethics guidance, while the ethical, legal, and social
implications of this rapidly evolving field continue.
Journal reference: Caulfield T, McGuire AL, Cho M, Buchanan JA,
Burgess MM, et al. (2008) Research ethics recommendations for
whole-genome research: Consensus statement. PLoS Biol 6(3): e73.
PLoS Biology. March 2008.