I’m slowly catching up on genomics news from the last week – this story in particular has been getting a lot of press.
The executive summary: Jay Flatley, CEO of genomic technology manufacturer Illumina, predicts that whole-genome sequencing of newborns will become routine within a decade.
Flatley has an obvious financial interest in this prediction coming true, since Illumina provides the most commercially successful next-generation sequencing platform currently on the market, the Genome Analyzer, and has recently invested heavily in emerging “third-generation” sequencing technologies (by purchasing Avantome, and signing an $18M deal with Oxford Nanopore). Illumina also apparently plans to launch a commercial whole-genome sequencing service for $10,000-$20,000 within the next two years, going up against newcomer Complete Genomics’ $5000 service. Routine whole-genome sequencing of every baby born in developed nations would provide a massive and secure market for Illumina’s products.
Still, Flatley’s predictions are not mere marketing hype. There’s little doubt – given the impressive rate of advances in the field – that the technology for whole-genome sequencing will be accurate and cheap enough to make this sort of large-scale application feasible in under five years. The major obstacles, as Flatley notes in the article, are not technological:
“The limitations are sociological; when and where people think it can be applied, the concerns people have about misinformation and the background
“I think those are actually going to be the limits that push it out to aten-year timeframe,” [Flatley] added. [my emphasis]
Reading through the public comments on the various online articles reporting Flatley’s comments (for instance here and here), it’s easy to see his point – Gattaca and Hitler are prominent, as is concern about misuse of the data by governments. Widespread concerns about eugenics and genetic discrimination will make it very difficult for any government health service seeking to put make whole-genome sequencing a standard component of their newborn screening procedures.
In order for these sociological barriers to be overcome (and I agree
with Flatley that they should be, almost certainly within the next ten
years) it will need to be very clear to the public that the medical
benefits of whole-genome sequencing outweigh its risks; that will
require both a bigger carrot, and a smaller stick.
Growing the carrot means investing heavily in moving results from basic genetic research into clinical practice.
Regular readers will know that I’m generally an advocate of
direct-to-consumer personal genomics, but I’ll freely admit that the
clinical utility of current genome scans is extremely limited. Right
now, even a complete genome sequence would provide very little value in
terms of individual health prediction for most people (although for some, such as carriers of known severe disease mutations, the value will obviously be much higher).
Those limitations will decrease rapidly over the next decade as we
develop a deeper understanding of the genetic architecture of human
disease. As Anthony Fejes noted in a recent post (and as Steve Murphy
has argued for a long time) the first useful applications will likely
be in the field of pharmacogenomics – using genetic information to
predict individual variation in drug effectiveness and toxicity.
Still, such useful applications won’t exist unless genomic data is actually converted into clinically relevant algorithms, and that isn’t always happening at the pace that it should beo. At the AGBT meeting last week, UNC’s Howard McLeod emphasised that academic researchers often do a poor job of handing their results over to clinical researchers and ensuring that they are ultimately used to develop useful medical products. This really struck a chord with me; it is so easy in academia to stay focused on the metrics of scientific career success (funding and papers), and neglect the development of results into real-world applications. I’ll certainly be thinking harder about how to improve this transfer in my own research.
Shrinking the stick means ensuring that there is a strong regulatory framework in place to prevent the abuse of genetic information, without stifling innovation. To date, governments have generally been excruciatingly slow in preparing for the consequences of the looming explosion of genomic data; that will have to change. However, knee-jerk responses – blanket moratoriums on direct-to-consumer genetic testing, for instance – could do even more damage than inaction.
If researchers and regulators get the balance right, the potential benefits of early whole-genome sequencing are substantial. In terms of individual health, genetic information could be used to target enhanced health screening to individuals at higher risk for severe, preventable diseases, and to minimise the risk of adverse reactions to drugs. From a research point of view, the combination of whole genome sequence data with electronic medical records from millions of individuals – if handled with appropriate care for patient privacy - would dramatically boost our ability to find new, predictive associations between genetic variants (and gene-environment interactions) and health outcomes.
Concerns about privacy violations, discrimination, or a new era of government-sponsored eugenics are not completely without foundation – but I suspect that the public health benefits of routine whole-genome sequencing will ultimately make its adoption by most governments inevitable. I only hope that in the meantime there is a sufficient investment in translational research, public education and careful regulation to ensure that this adoption is welcomed by the public rather than feared.