Sequence data will spark the greatest medical revolution since hygiene

Our genomes are our blueprints and programming language. Our genomic sequence is what defines our individual unique characteristics. It determines lifespan, risk of disease, sensitivity to environments, and much more. The genetic sequence of an embryo determines whether it develops into a flatworm or a blue whale.

Sequencing our genomes promises to greatly improve our understanding of the human body, taking the trial and error out of medical treatment. Once a large number of individuals have had their complete genomes sequenced, we will be able to correlate that data, unleashing its predictive power. The 1000 Genomes Project has already sequenced a thousand human genomes that account for 95% of genetic diversity and 15 million gene variants, half of never before observed. A thousand genomes is a good start, but we’re going to need many millions if we want serious progress towards better understanding the complexity of human genetics.

With much faster and cheaper sequencing technology, diagnosis of your health needs will become a more precise, algorithmic process. What does this mean for the future of medicine?

• Earlier prediction of susceptibility to diseases – allowing preventative action to be taken before the disease develops. Sequencing can help determine a person’s susceptibility to heart disease, cancer, and diabetes. The knowledge gained from sequencing at birth could save years of a person’s life.
• Prevention will cut costs and reduce suffering – the later stages of disease are the most expensive to treat. That’s part of why medical expenditures in the last year of life account for 27% of Medicare’s annual budget. Instead of addressing diseases when they emerge, as we do today, cheaper sequencing will let us prevent diseases years or even decades before they happen.
• Fewer medical tests – sequencing will make a plethora of other tests obsolete, consolidating them into one test, and saving time, stress, and money.
• Reduced risks of misdiagnosis and adverse drug reactions. A recent study of three counties in Sweden found that 3% of all deaths were caused by adverse drug reactions. In the USA, the number is roughly 5% of all hospital deaths. Between 18% and 70% of those deaths were labeled “preventable”. With better genomics and personalized medicine, all adverse drug reactions might become preventable.
• Steps toward curing cancer – prophylactic genetic screening of tissue areas could catch tumors before they metastasize and spread around the body. Tissue areas could be targeted based on knowledge of what a patient’s genetic profile says about their susceptibility to various cancers. In the longer term society might modify genomes in living people to lower their cancer risk. One allele found in the among Chinese decreases the risk of lung, oesophageal, gastric, colorectal, cervical and breast cancer.
• Extending human healthspan by using sequence data to help determine how cell systems break down or misbehave as we get older, and developing therapies to ameliorate the damage. The buildup of lipofuscin, molecular garbage that kills cells in the elderly, varies greatly based on species. Sequencing will help us determine why longer-lived animals like tortoises and koi carp.
• Accelerated progress in medical research – computers double in speed every 18 months, and as an information science, medical research will enjoy similar rates of progress. Futurist Ray Kurzweil has argued that trends in information science-based disciplines often display exponential progress. The most common example is Moore’s law, but there are many other variants.

Low cost genomes aren’t just important for medicine. To get an idea of the broad potential uses of such technology, Nature recently asked 50 prominent researchers what they would do with access to $1000 genomes, and they received 50 very different answers (read the article here).