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
Contrast this to how a diagnosis can be approached in the genetic era:
- Clinical evaluation
- Biochemical marker testing to narrow down what to look for with genetic testing
- Genetic testing
- Biopsies, imaging, etc
Genetic testing has given us another tool which can be fast, cost effective, more accurate, and helps us avoid having to use invasive procedures like biopsies as often.
Professor Christodoulou also advocated for extensive genetic testing throughout our lifetime, or as he put it: “from the pre-womb to the tomb”.
This system would have a number of benefits including:
- Identifying if the parents were carrying any genetic disorders they could pass on
- Identifying childhood or adult onset disorders which have a genetic basis
- Hereditary prediction and the potential for precision therapies for cancer patients
- Preventing adverse effects from drugs
- Testing for predisposition to diseases
He also went on to discuss some of the research his lab at the Murdoch Children’s Research Institute had been doing into understanding the genetic basis of Rett syndrome.
