This thesis shows how effective genome sequencing (GS) is in diagnosing rare diseases (RD) in clinical practice. Right now, finding a diagnosis can take a long time, especially when multiple techniques are used. GS provides a more comprehensive approach by analysing the entire genetic code, possibly increasing chances of finding a diagnosis. In addition, its potential to replace all other diagnostic approaches, may lead to a more efficient diagnostic care pathway. Moreover, reanalysis (after exome sequencing) resulted in more than 20% increase in diagnostic yield, improving the diagnostic trajectory of undiagnosed patients. Our studies showed that GS can be used as a routine test as it is often more efficient than current methods, although it is still more expensive. However, a follow-up study showed GS can replace most of current diagnostic procedures, reducing complexity and possibly costs of lab tests. Moreover, GS can find genetic variation in previously hidden parts of the DNA, potentially increasing diagnostic yield. Overall, GS offers many benefits as primary genetic test for RD.
Gaby Schobers (1983) obtained her Master's degree in Medical Biology from Radboud University in 2019. She then began her PhD research in the genome diagnostics department at Radboud university medical center, where she had been working as a senior technician since 2004. As of June 2023, she is working there as a clinical laboratory geneticist specialist in training.