Genome Sequencing Should Become Universal, Benefiting All, Researcher Says
The promise of personalized medicine with genome sequencing might soon imbue humanity with terrific powers to prevent, diagnose, and treat disease — with perhaps also the ability to gain insight into ourselves and our genetic place within the collective.
During the past decade, the cost of gene sequencing has fallen by 10,000 times, with more price drops yet to come. At least one company in the United States has dropped its price from several hundreds of dollars to just $99 for the sequencing of one person's genome, a collection of some 20,000 genes.
Individualized reports of one's genes yield propensities for disease, life expectancy, and even confirm or refute paternity.
In the United Kingdom, the government has committed more than $150 million to sequence 100,000 genomes within the National Health System, allowing researchers to gain clinically relevant data across a large patient population. John Burn, a professor at Newcastle University's Institute of Genetic Medicine, wrote an editorial published Tuesday in the British Medical Journal extolling the benefits of genome sequencing, to be followed by a rebuttal.
Burn acknowledges that while privacy abuses might be a concern, the benefits to gene sequencing for the individual and population would be manifold, with partnerships among government and pharmaceutical companies potentially yielding new drugs and devices targeting genetic subgroups, including those one in every 17 people with a genetic predisposition for disease.
"As we leave the high ground of 'single gene disease,' such as hereditary cancers and cardiomyopathies, we risk drowning in data and doing harm," Burn writes. "Offering volunteers at risk of monogenic disorders an effective service in return for them allowing their genomes to be pooled and data-mined is straightforward."
However, Burns notes that the particularities of genetic predispositions, given that each of us carries 400 of a total of 3 million sequence variants predisposing us for disease, need not be known by the individual patient, unless the chances of contraction are likely to great. "We must not dump heaps of molecular uncertainty on patients, families, and their careers," Burn writes. In the Netherlands, geneticists interpreting data provided by clinicians reveal only information about variants of known relevance, in addition to those "incidental" findings that would be of obvious importance, he adds.
Beyond our predispositions for certain rare diseases, however, would be our variances in our individual capacity to benefit from medications, which often lead to serious adverse outcomes. "At the moment, everybody gets the same size shoes and they are asked to hobble back next week if they don't fit," Burn writes. "We have known for decades many of the simple genetic variant responsible for such adverse events," however.
For the past five years, Burn has worked with other researchers to develop a screening tool made of nanowires to analyze nucleic acids and test drug sensitivity in patients. The tool performs the analysis in less than 15 minutes for a little more than $20. "Genomics extends beyond identifying predisposition to disease," Burn writes. "Linking whole genome sequencing to clinical outcomes will influence drug discovery and development," also further transforming the response to epidemiological crises around the world.
The technology would allow humanity to not only drill down into the source code of our corporeal being, but also to study real-time evolution on the genetic level in the field, moving with alacrity into an inevitable future.