Four things you should know about Genomics

What is Genomics?
 

Genomics studies the set of all genes (a genome) in a person, how they interact with each other and with the person’s environment. Genome sequencing has allowed scientists to determine the exact order and combination of genes which makes each one of us unique.

“It is looking at the variation between individuals, and also the changes that can happen after the development of diseases like cancer,” Sir David says.

Until recently, the topic was limited to studying birth defects or simple diseases where there is a predictable pattern of inheritance caused by a single gene.

The Human Genome Project in 2003 and other research have created large amounts of data on the human DNA, which is being used to study how multiple genes and the environment act together in much more complex diseases.

Why is this important?
 

Genomics “helps us identify people who have a particular risk of a disease”, says Sir David. People can be told in advance of this risk and avoid getting the disease altogether.

For example, celiac disease is a common condition which makes the patient gluten-intolerant, but 80% of patients are undiagnosed. “If you eliminated celiac disease by screening in advance, it would have a big impact because people with celiac disease cost a lot of money to treat.”

“We can say to them right from the day they were born: ‘never have any gluten’. They would never get any symptoms. They would not have celiac disease.”
 

How could Genomics affect government?
 

It could have “huge economic benefits” for governments, Sir David says, because less people will need complex treatments.

“The problem is we tend to treat people when they're ill. If you look at most health systems, it's a relatively small number of people who cost most money because they have chronic diseases. If you can just reduce that, it makes a huge impact.”
 

“The problem is we tend to treat people when they're ill."

For governments coping with ageing populations, genomics can help them pick up on very early signs of diseases or understand the disease better to prevent it from becoming acute. “The critical thing is to keep people well,” he says.

The returns are not just from cutting costs, it can improve an entire society’s productivity. People with chronic diseases are more likely to be unhappy and not be able to work as much.

“But it’s not just that person, it’s the bigger picture. Even for a family, if an old person is admitted to hospital, somebody has to stay at home and look after them.”

Genomics will change the way people are treated medically, so would we need doctors any more? Yes, Sir David believes, but their roles could change: “The doctor still has a tremendous role, in my opinion, as a healer.”

“These things are very personal and very human. People get enormous help from going to see a doctor and talking to them. That shouldn't be undermined because actually the placebo effect, as we call it, is very important.”
 

"People get enormous help from going to see a doctor and talking to them. That shouldn't be undermined”

Doctors will play an important role as educators, helping patients distinguish the accurate, important information from the vast amount of medical advice on the internet, he says.

Genomics will also be to doctors’ advantage, helping them better communicate treatments to patients. “It's not just saying ‘you should do this’; it’s saying ‘you should do this because’. And the consequence of doing this is that you will be much healthier.”
 

What is happening in the region on this?

There is a future where every single person’s DNA will be sequenced to find out exactly what makes them who they are, and puts them at risk of certain diseases.

In Singapore, this could be within a decade, Sir David says. It’s a matter of cutting costs even further. Genome sequencing is already a lot cheaper - it used to cost billions of dollars, and can now be done in $1,000, he says.

Elsewhere, UK Government has its own company, Genomics England, to sequence 100,000 genomes from 75,000 patients and their family. The project has £250 million (US$ 358 million) of funding from the government to find new and better ways of treating people with cancer, rare and infectious diseases.

Still, computers need to process an enormous amount of information in a very short time. “It’s a huge problem in informatics, but that’s where enormous progress is being made in data storage, data handling, and Big Data in general.”

Until prevention becomes the order of the day, we have to keep looking for the best cures.