Diagnosing rare conditions

Diagnosing rare conditions was often a difficult and lengthy process as the techniques involved were expensive and time consuming. This meant that although clinicians might suspect a genetic diagnosis, different genes would need to be tested  sequentially. Families had to embark on lengthy diagnostic journeys that could span years.

Advances in technology meant that sequencing a whole genome (the entire genetic code) or whole exome (the protein producing parts) became possible at speeds and costs that were unimaginable just a decade ago. This means that diagnoses can be made more quickly nowadays. Nevertheless, deciphering genetic sequences is not a straightforward task. Identical genetic variation can result in different signs and symptoms in different individuals, and similar signs and symptoms can be attributed to  different genetic mechanisms. 

The CPM plays an important role in shedding light on these complexities