Imagine a world without cancer, HIV, flu or diabetes. Humans somehow strive for such a utopia but no one can say if it's near, or even possible.
In the meantime, medical practitioners try to do their best -- getting the right treatment to the right person. To do so, they need a good understanding of human DNA. And they wouldn't be able to do that without a team of hundreds of scientists from multiple countries working together on the Human Genome Project (HGP), which is designed to read human DNA sequence for the very first time.
The Human Genome Project was selected as one of the laureates for the 2017 Prince Mahidol Awards. Director of the US National Human Genome Research Institute (NHGRI) Dr Eric Green who worked on the project from beginning to the end represented the hundreds of researchers in receiving the award conferred by HRH Princess Maha Chakri Sirindhorn last week at the Chakri Throne Hall inside the Grand Palace.
Since 1992, the Prince Mahidol Awards have been given yearly in recognition of people or institutions that make remarkable contributions to mankind in two areas: medicine and public health.
Starting in 1990, the Human Genome Project was a collaborative work of researchers from six countries -- the United States, England, France, Germany, Japan and China. In 2003, they eventually finished reading the 3 billion letters of human DNA, which basically spelled out the recipe of a person.
"That's our blueprint," Dr Green told Life. "All living systems operate off a blueprint and there are very small differences among people's blueprints. Some of those differences influence our health and disease. For example, you are more susceptible to certain diseases, I am more susceptible to other diseases. You react better to certain medication, I react differently to other medication."
The full understanding of human genome, according to Dr Green, is an extremely significant milestone, paving the way to an improvement in how doctors practise medicine in which they can fix possible errors in treating patients by having information about each individual's unique DNA blueprint as opposed to treating them by conventional protocol.
When the project was launched in 1990, many were sceptical, as reported in The Telegraph in 2003, because it was then thought sequencing human DNA would require a huge budget. According to data from the NHGRI, the project was initially estimated to cost US$3 billion. It ended up costing less -- around $2.7 billion. The project also was completed more than two years ahead of schedule.
The Prince Mahidol Award therefore recognises the achievement of such groundbreaking work where the ability to sequence human DNA allows doctors to better understand their patients and better plan a course of treatment.
So it sounds like a world with supposedly no more sickness. But Dr Green would not put it that way.
"I would never claim that genomic medicine or precision medicine is going to give us a disease-free world," he said. "But it is clearly going to improve the way we practise medicine. Take a disease like cancer, for example. Fifteen years ago when the genome project ended, we had a really narrow view about cancer. Cancer is a disease of the genome. The reason you have a tumour is because those cells have picked up a mutation in their genome and those cells grow out of control. Now that we can use the tools of genomics, we understand that cancer is much more complicated. We understand a lot more about using the genomic information of an individual tumour from a given patient to decide the best treatment instead of guessing. Now we can be much more precise. Treatments will be more accurate, more precise, more individualised."
Genomics is one important component of precision medicine -- an emerging medical field where individual variability in genes, environment and lifestyle is considered when it comes to disease treatment and prevention. While precision medicine includes other information about individual patients, such as their lifestyle, what they eat, what environment they are exposed to, how well they sleep and how much they exercise, genomics creates an understanding on a gene level as to why this person is more prone to this certain illness, why that person reacts better to this certain prescription and so forth.
"[Before the project] we never knew how many genes we had in our DNA. We didn't know how DNA really worked to choreograph developing the human, let alone operating the human. But the project set up a circumstance where we begin to understand our blueprint in the way that we were really never able to before. And obviously we learn a lot about how DNA differences might play a role and help in diseases," Dr Green said.
"The other thing to keep in mind is that if you are not precise, medical care can become very expensive. The hope is that if you are more precise, you won't make the wrong decision about this medication or this treatment option because you are just guessing. It should be able to save money in the long run."
This sounds like an ideal picture where doctors know what to do and patients get cured. But there are concerns too if this technology is going to be accessible only by the wealthy. To solve this, all members of the Human Genome Project have been working hard to make sure everyone in the world benefits from their discovery.
"Like a lot of new technologies, often times access is more readily available to those with money. When the genome project ended 15 years ago, we set a very high priority to reduce the cost of using those methods. Since the genome project ended, the cost for sequencing DNA has gone down a million-fold. The first human genome sequence cost about $1 billion. Now you can read out a human genome for just about $1,000 (31,500 baht). And we want to get it even cheaper. The cheaper and cheaper we can get, the more affordable it is for more people and not just for the rich."
Although the Human Genome Project has ended, the field continues. Genomics has eventually found its way into a large number of different areas including but not limited to microbiology, evolution studies, food safety and agriculture.
And even though a disease-free planet is yet to come, at least the application of genomics in the practice of medicine will hopefully spread across more countries in the world and then more lives can be saved.
"The future of the research's efforts is if can we get to a point where genomic information about each patient is used to guide the treatment to serve as a background information for their health and well-being from beginning of life until the end."
Working for humanity
Prof Porter Anderson Jr of Harvard University, Dr John Robbins and Dr Rachel Schneerson of the US National Institute of Child Health and Human Development, and Prof Mathuram Santosham of Johns Hopkins University were selected as the 2017 laureates for the Prince Mahidol Award in the field of public health.
They are recognised for their work and research in the development of an effective vaccine for Haemophilus influenzae type b (Hib), which is responsible for meningitis (inflammation of the membranes around the brain and spinal cord) particularly in children under five years old.
"The problem was how to make the vaccine work in infants," said Dr Schneerson. "It was possible to get a good response in adult individuals. But most of the diseases occur around the age of one. So you have to make the vaccine that will work in babies. That was the problem. So when Hib vaccine was developed, that opens the door to all other vaccines in children."
The original vaccine for Hib, added Prof Santosham, was based on a sugar molecule derived from a part of the Hib's capsule. But as said, it did not work well in infants, the group most at risk of contracting Hib. They then developed conjugate vaccine, a technique which links a carrier protein like tetanus toxoid with the sugar molecule to strengthen its immune-inducing capacity.
"That's groundbreaking work because it's not just for the Haemopholus influenzae but many other infections," said Prof Santosham. Thailand will start recommending the Hib vaccine as a basic shot for infants next year.
Dr Schneerson strongly encourages all countries, especially developing nations, to understand the importance of implementing the Hib vaccines among their population. But to get to that point, first there needs to be the political will.
"They need the will to use it and to not depend on foreign help for vaccines," she said.
"The award sends a message. It's not our personal award. It highlights and it points to others what should be done. What should be done is first to use the vaccine around the world. And second is hopefully encouraging young people to follow us, to stand on our shoulders. When we started our work, we stood on our predecessor's shoulders. We hope that this award will encourage young people here to stand on our shoulders."
