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Genomes on cell phones- there’s no app for that…yet!

A long, long time ago- before the human genome sequence was announced, a cancer specialist friend wrote a whimsical essay in a university newsletter. He predicted that future patients would drive to a clinical data center, plug a flash drive into a computer and have their genomes scanned for current and potential disease.

The reaction to this tale? A few smiles and my friend went back to work.

Today? Replace the driving with a smart phone and internet connection, the clinical data center with a NGS sequencing lab, and the flash drive with an app, and guess who gets the last smirk?!

I’m just dialing up your genome!

A number of researchers and companies are looking at ways to provide instant, smartphone access to individual genomes, including interpretations (of varying levels of expertise) which could predict, prevent and treat diseases. This means that for researchers working in sequencing labs, samples could come from anywhere, and interpretation of NGS data will expand from just talking to other scientists, or even physicians. It may mean talking about data with patients. That’s because consumers, not physicians or scientists, are driving this revolution in healthcare. The demand from consumers for more and more convenient information about a wide range of health issues, from disease dictionaries to sequencing data, is going to outstrip hesitation coming from medical or scientific institutions:

  • For a year now, the organization 23andMe has offered a $999 kit which provided whole exome data to a select group of customers. While not on a smartphone, the online application could easily be done on any portable device.
  • A start-up company in La Jolla, California, named Portable Genomics is working on software that will allow access and consumer-friendly visualization of personal genomics data, all on a smartphone. The company already has a prototype app for the iPhone and iPad.
  • Sequencing applications don’t just stop at disease management. At a recent Consumer Genetics Conference in Boston, the popular genealogy site Ancestry.com announced a feature which it introduced in May- Ancestry DNA. This new online application is a direct-to-consumer genealogical DNA test that predicts identity-by-descent and allows the customer to find genetic relatives within the rather large AncestryDNA customer database. It also identifies the user’s genetic sample to predicted genetic ethnicity.

Many questions remain: who should interpret the data? Can consumers really understand genomics? But there’s no doubt- like a certain German bible-printer of a few centuries ago, my cancer specialist friend is smirking a lot more these days.

A final question for you all to think about: how should scientists get involved in this?

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