Written By Eileen Creighton

The human genome has over 3 billion alleles, or pairs of genes, that contain loads of information about a person. Technology has allowed researchers to more accurately study and compare genes, decoding similarities in DNA to correlate with their respective expressions in the human body. Over the last four decades, these codes have changed our understanding of medicine, with code expression pointing to family medical history, allergies, inherited risks of heart disease, diabetes, cancer, and even specific reactions to medical treatments. As this research continues to indicate a future in the use of genes as a patient health record, the information contained in DNA becomes more important to study, and equally as important to protect.

Previously, geneticists determined patients’ predispositions manually, sorting through billions of alleles in search of patterns. Genetic research was an expensive, arduous, and tedious process. Emerging technology has given researchers the advantage to collate genetic data on a much larger scale and transform our alleles into a preventative medicine tool. Researchers at Intermountain Healthcare in Murray, Utah, have announced plans to create a new global DNA registry and repository to have access to thousands of genetic codes to conduct large-scale genetic research. This data repository will store raw genetic data donated by patrons of DNA processing services, providing researchers with access to processed code. With this information, geneticists can identify code that indicates genetic predispositions and mutations. This genetic repository will allow the cost-effective, efficient progression in genetic research, changing the way that people understand their own health.

Biotechnology companies like 23andMe, MyHeritage, and AncestryDNA provide customers with a “raw” genetic profile. Although these companies are known for creating ethnographic breakdowns for customers, they also identify medical predeterminers, allowing people to understand their health to take preventative measures. When a person submits their DNA for analysis, usually in the form of an epithelial swab, the companies create a raw genetic profile for the for the customer. The information contained in the raw data file contains the codes described in the information sheet (i.e., a person’s ethnic background in percentages, their genetic predisposition to heart disease and other life-threatening illnesses, their type of metabolism, recommended strategies for weight loss, etc.). The patron has access to the raw data file that would provide information that, with comparison to thousands of other raw genetic codes, might offer insight into what we don’t yet know about the human genome.

Intermountain Healthcare is asking the patrons of these biotechnology companies to upload their raw genetic profiles to their genetic data repository, the GeneRosity Registry. The donation is voluntary, as paying the companies that receive and process the genetic data would be a breach of the security and privacy of the patrons, as protected by HIPAA. Only researchers will have access to the database for genetic study. Access will be restricted, and the data will be encrypted to ensure patient privacy.

The GeneRosity Registry will allow researchers to uncover unknown correlations between genes and medical predispositions. Big data analytics will allow researchers to make discoveries in a more cost-effective, time-efficient way. If the results reflect the expectations for this type of research, it may change the way medical research is conducted forever.

*Genetic profile donations will be, as the database name suggests, out of one’s own generosity. Those collecting the data intend to use the codes for large-scale research, so no individual conclusions on an individual code will be sent back to the donor. There will be no monetary compensation for donations, even if a person uploads multiple codes from different sources. Intermountain’s GeneRosity registry site gives donors access to information about their privacy, and provides answers to Frequently Asked Questions.