Managing incidental findings and research results in genomic research involving biobanks and archived data sets

Abstract

Biobanks and archived datasets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings (IFs) and individual research results (IRRs) of potential health, reproductive, or personal importance to individual contributors (using “biobank” here to refer to both collections of samples and collections of data). This paper reports recommendations from a 2-year, NIH-funded project. The authors analyze responsibilities to manage return of IFs and IRRs in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). They suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When re-identification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities: to (1) clarify the criteria for evaluating findings and roster of returnable findings, (2) analyze a particular finding in relation to this, (3) re-identify the individual contributor, and (4) recontact the contributor to offer the finding. The authors suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and that are clinically actionable should generally be offered to consenting contributors. The paper specifies 10 concrete recommendations, addressing new biobanks and biobanks already in existence.

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

“…Yet, the breadth of genomic interrogation has led to debate regarding which, if any, of the results should be returned to research participants. [3][4][5] There is little controversy about the return of aggregate results. It is highly desirable and a social good to inform participants about the scientific discoveries that emanate from the use of their samples/data.…”

How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

“…In addition to the expected genetic results, whole genome and exome sequencing studies reveal unanticipated findings (e.g., abnormal sex chromosome complement XXY, XYY, 45X, XXX, hemochromatosis, Factor V Leiden, or the cystic fibrosis gene mutation). Despite recent papers suggesting that these unanticipated findings should also be returned to participants (Wolf et al 2012;Green et al 2012), this paper has illustrated the need to fully fund and plan for the return of genetic results at the outset of research, a task that is even harder for findings that are not anticipated at the outset. Schully et al (2011) have demonstrated the need for more research on the translation of findings from gene discoveries into clinical practice and public health in order to fully realize the benefits for disease prevention and health promotion.…”

“…More recently, consensus is emerging among US bioethicists and researchers that research participants should be offered the opportunity to receive personal genetic results when there are clinical implications (Dressler 2009), and there is increasing discussion about whether incidental findings as well as expected genetic findings should be returned (Wolf et al 2012;Green et al 2012). Survey results show that nearly all research participants expect researchers to return clinically useful information (Meulenkamp et al 2010;Kaufman et al 2008;Ceballos et al 2008).…”

Informatics and clinical genome sequencing: opening the black box

“…The extent and nature of data that can be accessed by and disclosed to different parties are subjects that are much debated, particularly in relation to variants that are unrelated to a patient's clinical condition, phenotype, or known family history (often described as incidental findings). 45,46 Concerns about the potentially harmful consequences of identification raise the issue of whether special protection should be placed on the storage of genomic data, especially whole-genome sequences, 42 particularly as regulatory and professional responsibilities arise if sequence data is viewed as personal sensitive data under data-protection legislation. There are also strong arguments against this type of "genetic exceptionalism, " 47,48 whereby clinical genomic data is given no additional special treatment above and beyond other forms of sensitive medical data created and held by health services.…”