New Study Explores Loopholes in Genetic Information Protection
Advancements in DNA Sequencing Technology
While some areas of technology may not be evolving as rapidly as anticipated, DNA sequencing is not one of them. The Human Genome Project, which completed the first full sequencing of the human genome, took 13 years and concluded in 2003. Now, less than two decades later, do-it-yourself home DNA kits are readily available to the public. Direct-to-consumer (DTC) genetic testing has emerged as a multimillion-dollar industry. Coupled with the creation of online databases, individuals can now sequence their genes and search for potential relatives.
Study from UC Davis on Genetic Data Security
A new study conducted by researchers at the University of California, Davis investigates the security of these online repositories of genetic information. These databases utilize a method known as identity-by-descent (IBD) to match individuals to their relatives. This process identifies segments of DNA that match between two people, suggesting a familial connection. Typically, the length of these matching segments indicates the strength of the relationship—closely related individuals will share more matching segments. Shorter segments are referred to as identical-by-state (IBS) and may imply either IBD or a more distant ancestor.
Privacy Concerns in Genetic Matching
A significant issue arises in that searching these databases not only reveals potential relatives but also exposes how and where genomes match. If an individual knows their genetic sequence and is informed of matching segments with another person, they inadvertently receive information about that person’s genotype. DTC genetics companies argue that users consent to this data sharing when they sign up, and that matching offers a layer of protection—where closer relatives access more information compared to distant relatives and strangers, who see nothing.
Methods of Exposing Genetic Information
The study proposes two methods for revealing genetic information through online databases. The first, termed “IBS tiling,” involves uploading numerous real genotypes to identify genetic data across various individuals. By connecting matching segments, significant genetic information about a target can be obtained. The second method, “IBS probing,” focuses on specific areas of interest, such as risk alleles for diseases like Alzheimer’s.
The researchers also introduce a method called “IBS baiting,” which entails uploading fabricated datasets with long runs of heterozygosity to extract genotype information through phase-unaware methods.
Significance and Implications of the Study
The findings of this study carry profound implications for the future. Over the last five years, public perception of online data has evolved, especially with the rise of “Big Data.” Individual data and preferences have become valuable commodities, but the potential insights from one’s genetic data far surpass those derived from online behavior.
This research highlights that the rapid growth of the DIY DNA testing market has outpaced our ability to anticipate its consequences. Millions have already shared their genetic information across various online platforms, and the study demonstrates how sensitive data can be accessed. One immediate risk of such “hacking” of genetic data is genetic discrimination, where insurers could potentially (and illegally) use genetic information to deny coverage to high-risk individuals.
Recommendations for Improved Genetic Data Security
The study provides suggestions for closing these loopholes and enhancing the security of genetic data. The introduction of general data protection regulations (GDPR) in the European Union in May 2018 spotlighted online data protection issues. This study contributes an essential perspective to the GDPR conversation and indicates where future discussions may lead.
References
Michael D Edge, Graham Coop. Attacks on genetic privacy via uploads to genealogical databases. eLife, 2020;9:e51810 DOI: 10.7554/eLife.51810
Image Credit
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