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The Certainty of Uncertainty in Genomic Medicine: Managing the Challenge

While uncertainty has long been a hallmark of the practice of medicine, the need for attention to its management is gaining focus with the movement of genomic testing from the specialist genetics service into mainstream health care. Uncertainty management first requires an understanding of all of the dimensions of uncertainty including recognition of the sources (probability or risk, ambiguity and complexity), the issues (scientific, personal and practical) and the loci (patients/family/research participants, laboratory personnel, clinicians, research investigators and policy makers). At the same time, it is also important to recognise that uncertainty is not always problematic, and therefore needs to be avoided or eradicated or that its psychological impact is necessarily negative. This means that management strategies that foster resilience, welfare, autonomy and solidarity when offering genomic testing may assist in ensuring those receiving and offering genomic health care are prepared for the inevitable uncertainties generated and present results with positive framing. The genetic counseling interventions currently proposed as management strategies are underpinned by, first, pre-test counseling that addresses potential uncertainty as part of the informed consent process. Secondly, a care relationship developed at result delivery fosters trust. This may assist in continued engagement and re-contact with services to facilitate possible future resolution of the interpretation of the genomic result. Nevertheless, it is essential that any intervention is evaluated so that it can be promoted with assurance of rigor.


Kristine Barlow-Stewart*

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