Genomics: hope for a better diagnostic future?

Since dyskeratosis congenita (DC) is so rare, getting diagnosed is a major problem. Blood tests which could help, such as telomere length, are not available to most doctors, so it is likely that many people with DC never know their true diagnosis and therefore may not receive the best treatments. One approach to rectifying this situation could be to increase the availability of genetic testing.


The UK government is sponsoring a pilot project on genomics testing: the 100,000 genomes project. This looks in detail at the whole genetic code of people with rare and puzzling diseases and their healthy relatives, and is helping doctors understand the underlying causes in many cases.


DC Action believes that the ability to look at genetics could transform our ability to diagnose DC and other telomere-related problems. As well as for those with classical signs of DC, this may enable some people with conditions such as lung fibrosis (pulmonary fibrosis) or cirrhosis of the liver to get better diagnosis and treatment than is currently possible.


A recent UK consultation showed wide interest and acceptability of genomic testing from the general public. More information on genomics testing can be found in this briefing by Genomics England.