Generation genome

Professor Matt Brown, Director of the Diamantina Institute at the University of Queensland, predicts that whole genome sequencing at birth is about a decade away from becoming a part of routine screening in our hospitals.

A human genome comprises 3.3 billion bases and about 22,000 genes, and on average each person carries about 50 or 60 new mutations. Add to this a variation of 100 or 200 bases between each of us and deciphering whole genome sequences starts sounding complicated.

But gene sequencing is a success story and it’s getting faster and cheaper each year.

“In 2013, we can sequence one terabyte of gene sequence per week per sequencing machine for about $5000,” said Brown in his presentation at the 2013 AusBiotech meeting in Brisbane.

“The cost of this is dropping by over 50% each year - next year it’s likely to be less than $1500 per genome.”

At this rate, Brown predicts that by 2016, sequencing a person’s genome is likely to cost less than the cost of a whole-body magnetic resonance imaging scan.

More widely available genome sequencing would benefit many people - for example, by providing earlier detection of genetic disorders such as Marfan syndrome, an inherited disorder of the connective tissue, which would enable sufferers to get treatment sooner.

Identifying single gene mutations that predict for cancer is beginning to reap some benefits from screening through whole genome analysis.

“Many diseases have significant heritable components,” Brown continued. “Breast cancer, melanoma, hypertension, Alzheimer’s disease, diabetes, stroke. We can therefore predict whether a person is likely to inherit a condition and potentially treat them early when they are more likely to respond or even prevent the disease.”

Identifying genetic risk is key to this and Brown says risk prediction for type 1 diabetes, Alzheimer’s disease and cardiovascular disease in men is effective.

Apparently it’s underway in the UK. Brown reported that a UK House of Lords report at the beginning of 2012 presented a pathway for whole genome sequencing at birth to occur within the National Health Service.

British Prime Minister David Cameron’s plan is to set up a company to look at whole genome sequencing over the next five years as a pilot program for the introduction of it in the UK within the next decade.