In the month of May, 2007, Nobellaureate James Watson peered into his own genome for the very first time. Thehard drive he was endowed with, contained the first genome to be sequenced forless than $1 million. Although Dr.
Watson is a renowned scientist with a deepacademic connection to the personal genome project, at that time he was also asubject in a genomic research initiative. In a stark contrast to Dr. Watson,whose strong academic background allows him to make sense of the contents ofthe hard drive, is the vast majority of those that will have their genomessequenced for medical purposes. In literature, it has beenstipulated that the responsibility researchers bear regarding disclosure ofgenetic research results varies depending on “the type of study, the clinicalsignificance and reliability of the information, and whether the study involvespatients, genetically ‘at-risk’ families for a tested predisposition or healthyvolunteers” (Knoppers et. al., 2006).
Although the former statement isinformative, it is ridden with ambiguity. Additionally, at present time thereare many jurisdictions in which there are no clear policies pertaining toethical research conduct. There is a strong plea from the internationalgenomics community to create standardized approach to issues concerningconsent, disclosure of results and eventual obligations to genetic relatives. When considering the prospect ofconsent and disclosure documents to be used in WGS and ES studies, severalissues have to be tackled. Traditionally, consent and disclosure documents havebeen used in genetic research projects, if the aims and scope of the novelresearch is dissimilar; the degree of- and implications of which has to beconsidered.
Secondly, if the hazards and potential gains of the WGS or ES studyis of a particular nature, partakers may require an extensive account to make aproperly informed decision concerning involvement in the project. Thirdly, partakersmay need to be briefed specifically on the nature of WGS or ES studies conduciveto sustaining transparency and credence in the research venture. Generally, the aim of a WGS studyis to detect genes and variants that present a risk for an unambiguous diseaseor variant. Thus, the magnitude of incongruity of the aims pales in comparisonto the technical differences of the research methodology. However, theconvention is not to disclose research approaches and methodology to thesubject, as they are not relevant in their informed decision to partake or not. In studies where the goal may be paralleledto conventional genetic research, a similar standard- pertaining to consent anddisclosure, may be applied. In studies where the scope and aims aresignificantly different, this discrepancy should be mirrored in the consent anddisclosure document.
Genome wide sequence studies havebeen gaining popularity for some time now, and as more commercial venturesrelating to genome sequencing becomes more readily available (www.23andMe.com) –the international GWS community should expect subjects to desire disclosure ofresults in an increasingly degree. Additionally, the individual nature of GWSstudies will indubitably increase the propensity of subjects’ plea to accesstheir results.
With the former statements in mind, it’s clear that numerous ethicaland protocol concerns must be tackled prior to any return of results. Due to the width of GWS studies, ithas a much higher probability of uncovering unexpected variants that may be ofclinical relevance to the subject. Depending on the individual, this could beviewed either as a positive or negative consequence of the study. Ideally, theresearchers should decide on whether or not they will be reporting results backto the subject, either immediately or in the future – as the accessibility ofwhich may impact the subjects’ willingness to partake. Either way, the accessibility,potential extent of- and mode of returning results should be reflected inconsent and disclosure documents.