A crystal ball into your future health!

Apr 29 2010

By Candy Lashkari

Imagine knowing just what diseases you are likely to suffer from in your lifetime thanks to the sequencing of your genes. That is exactly what Professor Stephen Quake knows, because he has had his entire genome sequenced and studied. In fact he was in the news last year as well when he used new technology to sequence his genetic code for less than $50,000.

Compared to early costs of sequencing the entire genome which went into billions of US dollars, this is a relatively low cost. The technology is set to be improved and made more cost effective bringing individualized medication based on your genome a reality. Your doctor may never prescribe you a drug which you may have an adverse reaction to.

For some months a team of 30 scientists studied the 2 million gene variations in Professor Quake’s DNA. Professor Quake underwent counseling before the entire study was carried out to enable him to better process the information about the possible diseases that his genes may have hidden in them. The team used a Heliscope sequencer from Helicos BioSciences and was then double checked using an Illumina Inc Sequencer.

Quake said that getting a genome sequence isn't for everyone. "All you hear about when they talk about your genome is ways you're going to die and get sick. It doesn't tell you you're going to be happy or a great athlete. If you're a worrier, this is not for you."

For Professor Quake the results were a mixed bag. He has a much lower than average risk of developing Alzheimer’s disease in his lifetime. Yet he has a much higher risk of getting obese and developing diabetes. There is also the risk of coronary heart disease due to rare genetic variations which have been associated with sudden cardiac death.

Cost may not be an issue with getting a genome sequence done as the price of the decoding is dropping fast. Currently a patient’s whole DNA code can be mapped for as little as $5,000, but Dr Euan Ashley, who led the team which analyzed Professor Quake’s DNA sequence said that the $1,000 genome was not too far away in the future.

Professor Quake said, “It's important to recognise that not everyone will want to know the intimate details of their genome, and it's entirely possible that this group will be the majority. There are many ethical, educational and policy questions that need to be addressed going forward."

These fears were already being echoed by Nilesh Samani, of the department of cardiovascular sciences at the University of Leicester. "We need to think carefully about whether we need laws to prevent genetic information from getting into the wrong hands." said Mr Samani.

For those who feel that genome sequencing is the ultimate answer to individualized attention, there may be some thing more to consider. Muin Khoury, director of the National Office of Public Health Genomics at the U.S. Centers for Disease Control and Prevention, said that “The current information is incomplete, uncertain, potentially misleading and could lead to unnecessary procedures. The relationships between our genome and most health and disease indicators are so far unknown or  not validated”