Ethical issues in medical-sequencing research: implications of genotype–phenotype studies for individuals and populations

摘要

Advances and declining costs in sequencing technology will result in increasing number of studies with individual sequence data linked to phenotypic information, which has been dubbed medical sequencing. At least some of this linked information will be publicly available. Medical sequencing raises ethical issues for both individuals and populations, including data release and identifiability, adequacy of consent, reporting research results, stereotyping and stigmatization, inclusion and differential benefit and culturally and community-specific concerns. Those issues are reviewed, along with possible solutions to them.