One of the foremost stories of the exponential prowess of the information age has been the rapid fall in the cost of sequencing the human genome. Whilst the first genome to be sequenced cost many billions, you can get one sequenced today for less than $1,000.
This rapid fall in price led one study to project that we would have around 2 billion human genomes sequenced by 2025.
One company that promises to advance this at a rapid rate is sequencing startup Genos. They promise to sequence your entire exome for $499, with a fascinating caveat.
Donating to science
The company have announced that they will contribute to the cost of your sequencing on the proviso that you donate your data to scientific research. The hope is that opening up data to research in this way will begin to close the apparent gap that is opening between the amount of genetic data being sequenced and our understanding of it. At the moment, we don't really know enough about our genes for the data to be useful.
Genos are working with a number of academic and commercial partners to try and rapidly advance science by giving these institutions the kind of data needed to quickly further our understanding of the genome.
Whilst the potential of making such data available to science are clear, you sense that we are only really scratching the surface about what might be possible. People are generating an increasing amount of data around their lifestyle, whether it's their diet, exercise regime, mental and physical wellbeing and so on, but rarely is that data available for research, and rarely is it unified into a single, holistic database of you.
A central challenge to overcome for such a scenario to become reality is to provide a standardized platform with terms all parties can agree upon. Such a platform would require three things to happen to fully capitalize on the possibilities:
- It should be easy for individuals to contribute their medical data. Whether it's mobile apps, wearable devices, medical records or genetic data, it needs to be easy to share data.
- Funding support needs to be directed more towards researchers working with such big data sets. This is especially so in areas such as artificial intelligence where data is the fuel by which they function.
- Lastly, we need to ensure that a diverse population is represented in the database. There is a risk of homogeneity in existing medical research, and specific efforts should be undertaken to ensure that all ethnicities are represented so that medical advances benefit all.
There have been projects such as the UK's Biobank to encourage data sharing, and the White House recently launched it's Cancer Moonshot initiative to screen around 250,000 samples to hunt for biomarkers that are signs of cancer. Time will tell if these really are the start of something bigger.