I think not, although the NGS allows the study of multiple genes at once without going through the expert filter of a clinical geneticist, they will now be responsible for establishing genotype-phenotype correlations with implications for prognosis and monitoring. Not to mention keep giving genetic counseling and coordinating the multidisciplinary patient management. We still have work to do. What do you think?
NGS approaches if anything increase the value of Clinical Geneticists and thus expertise in dysmorphology, not to mention the plethoric skill-set this specialty craft brings in other areas such as genetic counselling and approaches to unintended findings. Accurate and high definition phenotyping goes hand-in-hand with the ever increasing flow of data afforded by NGS. In order to make sense of this data and establish meaningful genotype-phenotype correlations the role of the expert dysmorphologist is further heightened. It would be all too easy to drown in the growing tide of data sprung forth from NGS if it weren't for the ability to pair this with accurate and detailed clinical phenotyping enabling for its interpretation in concert with bioinformatic pipelines.
For us non-dysmorphologists the NGS revolution firmly places Clinical/Medical Geneticists at the centre of new and evolving models of research and healthcare. Will NGS relegate Clinical/Medical Geneticists to the sidelines? Most certainly not.
It is wonderful how the possibilities can be explored. The utility is immense, but the expertise required is immense too. In contrast with other molecular techniques,sole reliability on the result generated by NGS can be misleading. It requires a lot of confirmation to suggest pathogenecity. The wet lab is prompt but the downstream analysis can be exhaustive especially where unknown genes or pathways are concerned. But for the known genes it is heaven. Imagine being able to do all osteogenesis imperfecta genes in one go at a cost of less than 1500 dollars.
- Badges
- Science method