I was reading a really fascinating article about microarray-based comparative genomic hybridisation. The authors – experts in the exploration and understanding of data that looks worrying like something from The Matrix – describe the way that such powerful genetic techniques can see what might be different about one child’s genes, and suggest groups in which the technique may be used.

When the aCGH comes back with a pathological variant, that then explains the diagnosis, I can see how this may alter treatment choices, make a difference to understanding prognosis (but maybe not – as we’re not sure that the ‘forme fruste’ versions always work the same as the face-slappingly-obvious ones, are we?) and give information for reproductive choices.

And if we find a ‘nothing’, then we’re also a further step into acknowledged uncertainty. But …

But .. what about the ‘variant of unknown significance’ .. how do they get handled by clinician, parent and young person? What is the value in this answer and how can it be balanced at the point of requesting the test against the possibilities of the other answers? This is operational in BRCA testing and has some mirrors in the area of ‘incidental findings’ . I could find a tiny bit of research in the area, and would love to be pointed at more, as it feels like this should be understood better

When we describe the value of a test or intervention – whose values are we applying?

– Bob Phillips