The Genome Generation: Transforming Healthcare Using Genomics Medicine
By: Professor Datuk Dr. A Rahman A Jamal
I had the privilege of attending the International Summit on Population and Medical Genomics on the 2-4 June 2015 which was held at the Fairmont Hotel located in the picturesque St. Andrews in Scotland (see picture). I was the only participant from South East Asia at the summit. There were many big names in attendance especially those involved in the next generation sequencing either for research or in diagnostics. I felt like a dwarf in a land of giants especially when listening to each lecture showcasing the impact of whole genome sequencing on research and diagnosis especially with regard to cancers and rare diseases. At the end I felt how small we are as a nation (I mean in science and medicine) and if we are not game enough we shall be left behind by the advances in technologies and transformation in healthcare.
It is not that we cannot do what the ‘Mat Sallehs’ are already doing or embarking on, but I believe as researchers we have not done enough to convince the powers-that-be on the importance to move into the era of genomics medicine fast or be embarrassingly left lagging behind and be wasting millions in useless therapies (because of non-response) or unnecessary deaths (due to failure or delayed diagnosis) or failure to make a diagnosis in difficult and rare diseases. Rare diseases when combined altogether makes up a total of about 8% of hospital admissions and that is not rare at all.
For those working in genome research, we know of the big initiatives happening around the world. Last year, the United Kingdom announced their 100,000 genomes project targeting cancers and rare diseases. The Chairman of the NHS England, Sir Malcolm Grant, spoke at the summit and to my surprise, mentioned passionately that the 100,000 genomes project was not about research but about the transformation of healthcare in the UK and adapting genomics medicine. The power of whole genome sequencing, he said, was just too good to be ignored. Professor Mark Caulfield, the Chief Scientific Officer of Genomics England, spoke on using the 100,000 Genomes Project to translate genomics medicine into health. Professor John Mattick from the famous Garvan Institute in Australia, spoke on the coming of the genome generation. He envision a time, not so far away, when every baby born will have his/her genome sequence and that this information will be used to chart and ensure optimal health of each individual. Professor Mattick also mentioned about the initiative in Australia and the efforts by his team. Qatar, Saudi Arabia and Singapore are all in the midst of planning for own large scale projects on population and medical genomics.
There were just too many outstanding speakers at the summit. For cancers the use and impact of whole genome sequencing in diagnosis, prognostication and targeted therapy have saved many lives and improved the survival of many cancer patients. This is precision medicine at its best. For rare diseases, the use of whole genome sequencing has successfully clinched the diagnosis in more than 30% of cases overall and have saved millions in diagnostic tests which have failed before. The cost of whole genome sequencing now is down to just USD1000 (this is using the HiSeq X system).
At the end of the summit, I can’t help feeling depressed but hopeful. Whilst our counterparts in the West and in the developed nations are talking about precision medicine and genomics medicine as routine practices for cancers and rare diseases, we still have a long way to go back home in Malaysia. UMBI’s application for an LRGS project to sequence just 1000 genomes is still a long way from being approved. I have mentioned about this project to our National Science Advisor and to a few top administrators in the ministry. Perhaps the timing is bad because of the economic slowdown. Perhaps it needs the political will, just like when the David Cameron, the Honourable Prime Minister of UK, approved the 100,000 genomes project for his nation and the people. Or perhaps, we just want to continue to become followers rather than leaders in the field of genome research.