Living In the Dark: Genetics, Diagnosis and Uncertainty. By Simon Hazelwood-Smith

Progress in genetics is remarkable. We know of over 6000 mutations that cause disease, have created fully functional synthetic chromosomes and are seeing gene therapy successfully restore sight and hearing. The human genome sequence was completed in 2003, representing $3 billion of investment and 13 years of work. Whole genome sequencing now costs $1000 and takes one day.

Nevertheless there remain thousands of people affected by genetic disease; in fact 60% of us will be affected in some way in our lifetimes. At birth this number drops to around 3%, meaning that there are 13,000 children born each year with a genetic condition.

Given the unrelenting advances in our understanding of genetics, it is perhaps a surprise that, currently, around 50% of children born with a genetic condition will receive no specific diagnosis.

Children lacking a diagnosis are grouped together with the blanket term ‘Syndromes without a name’ or SWAN. A tag of SWAN on a child can signify the start of dozens of tests, hospital time, disappointment and frustration. Continue reading