Is it possible for this to be detected in utero? If so, why isn’t it already being done?
Hi Cory,
This is a great question: In general, once you have genetic sequencing you can check for KIF1A mutations. Some tests utilized during pregnancy test use fetal DNA found in the mother’s blood, but only look for more obvious issues like abnormal chromosome number. There have been recent studies looking to expand the scope of detection at these early stages, but nothing commonly implemented in healthcare settings when prenatal development appears normal.
Genetic testing is still relatively new, and for a while was quite expensive. If individuals could be mapped to a specific disorder based on symptoms, genetic testing might not be advised - in fact there are many stories from KAND families who had to fight hard to get a genetic test.
Rather than sequencing the whole genome, it is cheaper to look at a specific subset of genes that relates to symptoms: The Rosens did a lot of work getting KIF1A onto epilepsy and spasticity gene panels for example, which helped identify KIF1A mutations in patients who had been diagnosed with other disorders. As technology advances, it’s becoming more practical to expand those panels or perform full sequencing. But in mild or moderate cases of KAND there might not be anything to indicate the child has a mutation at the earliest stages.
The best approach would be to sequence everybody, but that takes money and infrastructure. There are two exciting projects tackling this.
The Newborn Genome Programme in the UK is performing whole genome sequencing on 100,000 newborn children to screen for rare disorders.
The Guardian Study in the US, led by KAND champion Dr. Wendy Chung, uses samples collected at birth to screen for mutations in roughly 450 disease-associated genes, including KIF1A for parents who opt-in.
These programs are showing the benefits of early, comprehensive screening, and will hopefully build into even larger efforts.
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