Solving Medical Mysteries By Searching Genomes
Doctors and scientists will soon be able to identify the genetic roots of diseases by comparing shared databases of human genome data. While some scientists believe that finding a cure for rare genetic diseases, cancers and even chronic diseases like diabetes could be a major breakthrough, others express concern for the privacy of individuals who have shared their genomes with the world.
Last month testing began in four cities using bioinformatics expert David Haussler’s genome matching project MatchMaker Exchange to see if it could help treat children with simple (i.e., caused by single, not multiple genes) genetic disorders caused by a rare mutations.
MatchMaker Exchange is an attempt to make comparing genomic data like searching the Internet, but it needs to exploit economies of scale and the benefits of network affects, i.e., a huge database, to be really useful. The main concern with such a database is that it will sacrifice the privacy and secrecy of the individual and her genetic data for the greater good. In part to deal with this particular issue, Haussler and his colleagues founded the Global Alliance for Genomics and Health, a non-profit that is creating standards of organization for genome sharing. The NGO is working on developing application programming interfaces (APIs) and protected file formats that will ensure the protection of genomic data as they are shared among researchers in a closed peer-to-peer network. In essence, only doctors that adhere to the standards and are granted access will be able to use the data.
Another part of this project is the creation of a DNA search engine called Beacon. Currently, Beacon is able to search through 20 databases of human genomes to provide researchers and doctors with yes or no answers about particular genome patterns. This mechanism keeps the database closed to the public and only available to researchers and knowledgeable geneticists that are able to ask constructive questions about anomalies in the human genome. This ability to analyze across huge datasets could make it possible for researchers to compare the genomes of healthy and sick individuals to see where their genetics differ, and if there is a genetic pattern that could help identify the necessary biology for finding a cure.
According to Arthur Toga, a leading Alzheimer’s researcher at the University of Southern California, “There’s going to be an enormous change in how science is done, and it’s only because the signal-to-noise ratio necessitates it.”[1] According to Toga, there is a real need for larger study populations to reach effective medical conclusions, which is why providing researchers with access to an international and open genome database could improve the results of genetic studies. Unfortunately, due to seemingly intractable privacy fears, some of the fervor and faith in open genome projects is fading, posing a serious risk to the future of this critical medical tool. While there is support for the genomic revolution in medicine, legislation needs to be put in place to ensure that the privacy and health of individuals is protected as their genome is being searched for the key to a disease-free future.
https://www.technologyreview.com/s/535016/internet-of-dna/
