By Adam Marcus, PhD & Suresh Ramalingam, MD
The next great wave of healthcare advances will most likely involve a 3 billion letter code known as your genome. Your genome is all the DNA found in your cells and it helps make you who you are. Understanding the DNA letter code in the genome by sequencing it, holds great promise in solving some of our most pressing maladies, such as neurological disorders, diabetes, and cancer (see Adam’s post)
Enter Healthkit- this is Apple’s platform to provide a framework for 3rd party healthcare apps integrated in a single location. With Apple’s marketing prowess, it could provide a much needed solution to bring all essential clinical information to the patient and provider. Pull out your iPhone and medical records appear, health tracking data is instantly available, lab results are accessible, and doctor visit schedules are neatly laid out.
This innovative merger of handheld computer technology with science begs us to ask the question of whether it makes sense to have your personal genome in your pocket. While personal genome sequencing is not yet occurring worldwide, it will be. A few decades ago, the first attempts at sequencing a human genome cost up to a half a billion dollars and took well over 10 years (known as the Human Genome Project), now it costs only about $2-3,000, and takes 1-2 weeks.There are also clinical trials, treatments, and commercial ventures such as 23andMe, where specific regions of the genome are already being sequenced The genome holds such great promise that at first glance it seems like a no-brainer to see this in Healthkit. But as with most great advances, we need to look before we leap.
1. Security is an obvious concern and we are by no means experts, but handing off your personal code that when translated properly says a lot about you, could be dangerous. We presume that healthcare information accessible from a phone would have additional security measures (2nd password, 2-step login, etc) than Angry Birds for example, and clearly significant attention needs to be focused on this.
2. Much of the genome we still do not understand. So having the entire DNA sequence handy may not do you any good. Instead, knowing specific changes (mutations) in your genome that we do understand could in fact be much more beneficial and realistic. Furthermore, the interpretation of the DNA code within the genome requires complex software. Therefore, incorporating 3rd party apps that could run these complex analysis algorithms could provide a much needed tool.
3. Your genome is about 1-2 GB in size. Where will this information be stored and how private will it be? Healthkit pulls together 3rd party apps, so potentially your genome sits on a server that is compliant in storing private medical data. This could be the healthcare provider itself or a 3rd party that specializes in sensitive clinical information. Storage space though should not be a huge issue, especially in the next few years. The genomes of 100,000 people is about 100TB. By the time we are routinely sequencing genomes this amount of space may be much more common.
However there is also great potential here:
1. Understanding the genome and having it readily accessible could help guide treatment in the next few years. In our opinion, this promise can outweigh most of the issues discussed above. As we mentioned before, understanding and utilizing the genomic code for treatment could provide the next great advances in healthcare. Being able to access a genome on your phone and passing this information to a treatment provider could improve efficiency and treatment.
2. If done right, Healthkit could serve as a communication tool that provides concise clinical information about the genome in a comprehendible manner. This could be a useful tool for doctors to discuss why treatments are chosen and potentially be designed to better relay to the patient the biology behind the disease.
Apple’s Healthkit will help pave the way down this tricky road of mobile clinical information management. We recognize that complex ethical issues also remain regarding gene sequencing itself and these need to be appropriately balanced with the benefits of sequencing the genome. Ultimately, we believe that a personal genome in your pocket could lead to greater efficiency, improved treatment, and better communication between the patient, doctor, and caregivers.