domingo, 1 de enero de 2017

Known unknowns: building an ethics of uncertainty into genomic medicine | BMC Medical Genomics | Full Text

Known unknowns: building an ethics of uncertainty into genomic medicine | BMC Medical Genomics | Full Text
Biomed Central
BMC Medical Genomics

Known unknowns: building an ethics of uncertainty into genomic medicine

  • Ainsley J. NewsonEmail author,
  • Samantha J. Leonard,
  • Alison Hall and
  • Clara L. Gaff
BMC Medical GenomicsBMC series – open, inclusive and trusted20169:57
DOI: 10.1186/s12920-016-0219-0
Received: 23 December 2015
Accepted: 26 August 2016
Published: 1 September 2016



Genomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches is that information gleaned will often have uncertain significance. In addition to the challenges this presents for pre-test counseling and informed consent, a further consideration emerges over how - ethically - we should conceive of and respond to this uncertainty. To date, the ethical aspects of uncertainty in genomics have remained under-explored.


In this paper, we draft a conceptual and ethical response to the question of how to conceive of and respond to uncertainty in genomic medicine. After introducing the problem, we articulate a concept of ‘genomic uncertainty’. Drawing on this, together with exemplar clinical cases and related empirical literature, we then critique the presumption that uncertainty is always problematic and something to be avoided, or eradicated. We conclude by outlining an ‘ethics of genomic uncertainty’; describing how we might handle uncertainty in genomic medicine. This involves fostering resilience, welfare, autonomy and solidarity.


Uncertainty will be an inherent aspect of clinical practice in genomics for some time to come. Genomic testing should not be offered with the explicit aim to reduce uncertainty. Rather, uncertainty should be appraised, adapted to and communicated about as part of the process of offering and providing genomic information.


Ethics Uncertainty Genomics Clinical genomics Massively parallel sequencing Genome sequencing Genomic testing Genetic counseling Rare diseases Variants of uncertain significance

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