A personal perspective on returning secondary results of clinical genome sequencing
Cet article analyse les enjeux juridiques et éthiques associés à la communication aux patients des résultats secondaires de tests cliniques mettant en oeuvre un séquençage du génome entier
Although much has been written about the return of research results from clinical trials, and these can inform much of the discussion around results for clinical patients, the return of results from clinical testing is different. It is informed by a different kind of relationship, one in which there is a duty of care on the clinician to the patient [1]. There is a different framework for liability in terms of not acting or disclosing results that a reasonable person would want to know. Although the legal opinions on disclosure are beyond the scope of this article, many laboratory professionals consider that there is a duty of care to return off-target results by a laboratory if these are 'actionable' (that is, if they would generally lead to a change in care), even when such a test was not ordered. An example of such an actionable off-target result would be if the results from an automated machine showed a critical platelet count when a test for hemoglobin has been ordered [2]. Nonetheless, there are no clear statutory or professional recommendations. In several US states there are specific laws that may be construed as stating that DNA test results are considered the property of the tested individual [3]. Therefore, there is the potential for a moral or legal obligation to return results when such information would lead to a change in current clinical management. However, it is unclear what obligations there should be on laboratories that evaluate genomes to search for such secondary findings. In addition, it is ambiguous what should be considered a result that 'would change clinical management' - for example, whether a result needs to lead to a change in treatment, or whether making a diagnosis is sufficient to be considered a change in management. Furthermore, it is unclear who should decide when something reaches this standard. This decision-making becomes considerably more difficult in the situation of individuals for whom a proxy decision maker is empowered, such as adults considered incompetent through illness of mental deficiency, and minors. Here, I provide a clinician's perspective on the issues of secondary results raised by genome-wide sequencing and consider strategies that have been implemented to address these issues.
Genome Medicine , résumé, 2011