Up until recently, those in the technology industry and those conducting genomic research would have been considered strange bedfellows. But big data -- more specifically, big genomic data -- is bringing the two groups together.
Last month, Apple revealed its plans to collaborate with genetic researchers to design an app that would allow consumers to take a DNA test and submit their DNA information for genetic studies.
Apple is not the first technology company to want a piece of your DNA (literally). Last year, Google approached hospitals and universities offering to store their genetic information in Google Genomics, a cloud computing service that would enable researchers to store and share such data.
Not to be outdone, the U.S. government is collecting a trove of genetic information in order to spur precision medicine, with the goal of improving patient-specific treatments for cancer, diabetes, and other ailments.
Collecting, connecting and comparing the genetic information of thousands and millions of people is going to be the future of medical discoveries in this big data world. One centralized database where researchers and physicians can query millions of genomes at once could be instrumental for personalized medicine, medical models that customize diagnosis and treatment for individual patients based on their unique genetic makeup.
One of the biggest advantages of this sort of data sharing would be the potential for rare genetic disorders, which are as yet hard to identify. To be able to sift through millions of genomes and identify such mutations could do wonders for disease diagnosis.
With the new smartphone-aided apps for genetic information sharing, patients can not only choose to volunteer their data for studies and treatments, but will also have more access to their own genetic data and can participate in decisions about treatments. This is just the next, much improved step in empowering ordinary people with medical information and allowing them to take an active role in their health and wellness decisions.
Giving consumers this level of access in healthcare terms can only be good, but can it go too far?
Science has already made it possible to make precise changes in DNA.
A recently discovered bacterial immune system, called Crispr, can be harnessed to make changes in the DNA of humans. A bacterial enzyme makes cuts in the genome at a targeted site and a piece of DNA with the desired change is then inserted at the site using a cell's natural repair processes. One of the most promising applications of the technology is the ability to delete faulty genes and insert corrected ones for people suffering from genetic disorders.
This breakthrough genome editing technology is already allowing researchers to genetically engineer lab animals, including monkeys. Until now, making genetically modified organisms with multiple changes in the genome involved making animals with single modifications and cross breeding them, leading to weeks and months of waiting for organisms to attain reproductive age and go through reproductive cycles. The new technology allows creating such animals in a single step.
The research group that achieved this created Macaque monkeys by targeting genetic modifications in fertilized eggs and implanting them in a surrogate, who delivered babies with the edited DNA. The implications for such precise genetic modifications in primates is enormous for modeling and studying complex diseases.
This is especially true in the case of brain and neurological disorders where mice and rodent models are not sufficient as they don't mimic human neural circuits and behavior. That's the reason that psychiatric drugs that work in mice haven't found success in humans. Crispr can help pinpoint mutations that cause brain disorders. The technology is being used to study diseases like autism, by producing monkeys with mutations in the gene that plays a prominent role in the neurodevelopmental disorder.
The process of sliding in corrected genes and editing out bad ones opens the door to a host of potential applications--and just as many controversial questions. As with any new technology, concerns about unwanted and dangerous side effects are immense. This is especially so since Crispr can make genetic changes that could be passed on through the human germ line; by editing DNA of "germ line" cells such as the egg or sperm, or the embryo itself, changes can be passed on from generation to generation.
Crispr makes cuts with the help of "guide molecules" that match the DNA sequences to be corrected. What if the genome got cut in sites where the DNA is similar to the matching sequence but not identical, which Crispr has been known to do? This could lead to unintended alterations in the genome (and potentially, the germline).
And then there are the ethical questions.
Scientists in China caused a furor earlier this year by editing DNA in human embryos. Technically, immature egg cells from women suffering from genetic disorders could be cultivated in a lab setting, treated with Crispr to remove the offending gene, and fertilized in vitro to create an embryo free of the defective gene. The step of deleting the harmful gene could also be carried out at the embryo stage in a lab.
The technology is a godsend when we're attempting to correct potentially devastating and debilitating diseases, but what's to stop us from using such advanced science to enhance rather than merely correct?
What if a person decides he or she wants to become smarter or more focused, or that his or her as-yet-unborn child needs to have blue eyes or lustrous hair?
These fears are not totally unfounded. Multiple startups based on Crispr technology are cropping up around the world, many of them with the goal of creating healthy genetically-engineered babies on demand. Scientific meetings attended by transhumanists are already talking about offspring with superior strength or intelligence.
Scientists reassure us that gene-editing technology, as it is, will not lead to designer babies anytime soon.
First of all, large numbers of eggs have to be created with stem cells in order to ensure that genetic changes can be stably introduced through Crispr. After the eggs with edited genes produced from stem cells are grown and multiplied in a lab, they have to be sequenced and screened for those carrying the correct genetic modifications before they can be used to develop fetuses.
Secondly, and perhaps more importantly, nature may not comply. The genetics that defines human traits, such as intelligence or height, is far more complex than creating a single genetic mutation and producing a tall or smart baby. As Bryan Harada explains, it takes the combined effect of several hundreds of genes to account for about 20% of the variation in human height. And even if we do know of genes that are merely associated with traits like height or intelligence or beauty, we don't know if modifications in the genes would cause any observable changes to these characteristics.
Thankfully for the human race, making edits to human DNA to eliminate dangerous genetic diseases is much simpler, as these conditions usually involve deleterious mutations in single genes that are well characterized.
But is this technology leading us down a road where its use could one day be justified--for individual or public health? For instance, some DNA edits could act as vaccines against diseases we are naturally susceptible to--would it be justifiable to ask the public to get these edits? A very small portion of the human population is naturally resistant to the HIV virus, because of a favorable genetic mutation. Would society as a whole be better off with such a mutation?
Did we not start listening to people's phone calls in the name of terrorist threats when technology made it possible? Did we not start dropping bombs on our enemies with little regard for civilian life when unmanned aircraft became a reality?
When the intent and technology is available, could the justification be far behind?