On Friday afternoon I attended a seminar by Professor John Christodoulou titled “Genomic Medicine: What is its place in the Australian healthcare system?”.
One of the interesting points he brought up was how genomics had changed the ability to diagnose many genetic diseases. In the past, diagnoses would often require a three step process:
- Clinical evaluation
- Biochemical screening
- Biopsies, imaging, etc
This process had a number of problems:
- It was prolonged and expensive
- Many biomarkers (especially for mitochondrial diseases) could be inaccurate. e.g. blood lactate levels
- The more definitive tests required advanced procedures (biopsies) which required anaesthetic and its associated risks
- An enzymatic diagnosis could still leave you ignorant of the genetic aetiology