Apologies for the lack of activity on this blog. The amount of time I have for writing blog posts has reduced considerably over the past few months! I do hope to begin writing more general blog posts again soon, but I’m checking in today to highlight a paper that we published this week in the European Journal of Human Genetics.

The paper – titled “Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease” – has had a lengthy gestation period, which always makes it a little more satisfying when it is finally published for all to see. There is a small but growing literature that aims to understand patient preferences for genomic testing, but what we wanted to do in this paper was examine the preferences of another group of stakeholders: the health professionals who order these tests. The preferences of these individuals are particularly important in the context of genomic testing because in many countries patient access to these tests is strictly controlled by specialist healthcare teams.

DCEs inevitably have to focus narrowly on specific clinical contexts, with a view to making sensible generalisable claims based on these results, so we thought quite carefully about the right clinical case study to use in this work, eventually settling on inherited cardiovascular disease. As I think you will see if you read the paper, this has lead to some interesting results.

As you might expect, uptake of next generation sequencing tests such as exome sequencing, genome sequencing or panel testing increases if these tests identify more pathogenic mutations, identify fewer variants of unknown significance, or cost less. However, one of the really interesting findings in this study was that panel testing had the highest predicted uptake rate. We concluded that this suggests either scepticism or lack of awareness of the benefits of exome and genome sequencing, or an awareness of the limitations of these tests. Generalising from our findings, we suggest that where a disease is caused by single heterozygous variants, high VUS yield may limit the translation of exome and genome sequencing into clinical practice in the short-to-medium term. This finding would of course benefit from wider discussion and debate – very happy to hear other thoughts and opinions on this.