What’s new for people with, or at risk of, HSP?
Genetic testing for HSP is available Australia-wide. There are 3 facilities that offer state-of-the-art next-generation testing for 50 or more HSP mutations. The HSP testing ‘panel’ can be added to and updated as new mutations are discovered and documented. With next-generation sequencing, the panel with the information on HSP mutations is contained in a software application. Mutations are identified by digitally ‘filtering’ an individual’s exome or genome data against the panel. More than 70 HSP mutation loci are now known.
Although a huge advancement, next-generation sequencing is far from comprehensive or ideal. Certain types of mutations are not detected, meaning that traditional ‘hand sequencing’ technology is required as an adjunct in a significant percentage of cases.
Overall, about half of all HSP cases are now identified by gene testing, which is a big improvement compared to traditional methods… and there is still a long way to go. Modern technologies have enabled a more accurate and comprehensive picture of HSP genetics to be developed and that picture is increasingly being found to be more complex than previously thought.
