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

Abstract

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.

Comparison of participant information and informed consent forms of five European studies in genetic isolated populations

“…Our review of the CIOMS checklist selects only those topics that may raise additional issues specific to this type of study. We did not compare generic topics that are relevant to all genetic medical studies 10,12,41 (eg, information on the funding of the research, the ethical review process, disclosure of data in society and genetic discrimination). 7,10,41 Second, most topics that were not addressed in the information leaflets may have been communicated in other ways by the studies, for example, in information meetings and brochures and in face-to-face discussions between individual participants and research staff.…”

“…As this approach is not as widely used at present as large population-based studies, discussion of the ethical issues inherent in genetic epidemiological research has largely focused on genomics and biobanks [3][4][5][6][7][8] and specifically on the tension between the promise of important advances in biomedical research 6,9 and the requirement for robust ethical standards. 7,[10][11][12] New research techniques raise important ethical issues relating to consent [13][14][15][16] ownership, governance, access to information, benefit sharing and community participation. These issues apply partly to every kind of genetic study, but although these issues are also applicable to family-based studies performed in genetically isolated communities, the special characteristics of such communities provide additional challenges to ethical approaches designed for large population-based biobanks.…”

A Biopsychosocial and Long Term Perspective on Child Behavioral Problems : Impact of Risk and Resilience

“…Foster and Sharp (2006) list some topics of concern for the field of research in medical genetics (Foster and Sharp, 2006). First, there is the question of data storage, as little phenotypic information is needed in combination with genetic data to identify an individual.…”

Whole genome sequencing as a diagnostic tool: Participant-centered consent

“…A person may, for example, not consider reproduction at a certain moment in time, but later on change his preferences, or in the future, discover new treatment options for diseases that are currently not treatable. Different authors have explored various forms of consent with the intent to do justice to the apparent mismatch between patient comprehension and the requirement of informed consent [42]. In general, these investigations have demonstrated the importance of context: the specific relation between professional and patient determines what form of consent is appropriate.…”