Whole Genome Sequencing - Yes or No?

One of the most significant scientific developments over the past decade has been the ability to rapidly sequence the entire human genome. The success of this technology has led to a rapid increase in the detection and diagnosis of genetically inherited diseases. One use has been to identify specific disease causing mutations, while another use has been to identify susceptibility loci and polymorphisms which combine to increase a patient's risk of developing a disease which may be caused by not one, but many genes. It can also help to predict how a patient will respond to certain types of medications (pharmacogenomics). 

So should we sequence every person's genome? There are obvious arguments for: personalised medication, screening for disease etc. However the counter-arguments are also significant ie. screening for diseases which cannot be treated. There is risk of harm by screening a person's entire genome. For example, it may suggest that a patient has a predisposition to certain conditions and may lack clinical significance. Would it be useful to know that you carried a gene for an inherited condition? This could lead to a world of 'genetic compatibility' testing between partners before having a child. It would be useful for doctors to know if patients are going to respond / not respond to certain drugs eg. warfarin or chemotherapy before they are prescribed. 

A number of ethical implications need to be considered: for example how will implications for relatives be handled - who owns the genetic information? How can we ensure that the information obtained is kept private and not shared with research or pharmaceutical organisations? The discovery that a patient may be at a slightly increased risk of coronary heart disease could lead to a rise in un-necessary investigations (particularly in the private sector) eg. unnecessary imaging, while a result showing low risk could also be harmful, leading to a person becoming too relaxed about their health and abandoning healthy diet and exercise as it is felt un-necessary due to low genetic risk. At the moment, in my opinion there is too much risk of harm to be caused by screening everyone's human genome. However once our knowledge expands and our ability to handle the information improves, I honestly believe that in my lifetime it will become routine medical practice (ie. genome sequencing at 18th birthday or on registering with a new GP practice).

One of the big medical news stories last week was the revelation by Hollywood actress Angelina Jolie that she had undergone a double mastectomy to prevent her risk of developing breast cancer, caused by her carrying the BRCA1 gene. I think it is highly commendable that she went public with this - helping to increase awareness of the risk of breast cancer. The question this raises and which is the title of the article in the BMJ this week which I am referring to is the 'who owns our genes?' question. Unbelievably, in the US it costs about $3000 to undergo testing for BRCA1 and BRCA2 because one biotechnology company owns the patent and hence has a monopoly over the testing (the company's share prices jumped 3% after Jolie's announcement). These patents are set to expire in 2014 as it has now been argued in the US Supreme court that human genes are 'natural' and therefore cannot be patented.