OpenSNP

Released in September 2011, openSNP is an open source website where users can share their genetic information. Users upload their genes, including gender, age, eye color, medical history, Fitbit data. With a focus on user patient-led research (PLR), there is potential to redefine the way health research is conducted.

"It promises to be a vital supplement to standard research: it can focus on conditions that are neglected by standard research, such as rare diseases or side effects, and can draw on a broader range of data and deliver outcomes more rapidly. It can also be a way of realising valuable forms of social interaction and support in cases where members of a community conduct PLR together, for example, patients suffering from the same illness."

The name of the project is inspired by single nucleotide polymorphism (SNP), which is a DNA variation at a specific location on a strand. Scientists have discovered that there is a correlation between certain SNPs and genetic predispositions such as Mendelian disease.

The code of the project is on GitHub and the CSS is licensed under the Apache 2.0 license.

Since openSNP is an open-sourced social network that is readily available on the internet, there have been questions raised surrounding privacy issues and other risks. Though the sign-up page warns potential users of the record lasting forever, participants must decide for themselves whether the benefits outweigh the pitfalls. As health research continues to progress, more and more scientific analysis places a greater role on PLR, leading to increased demands for a new social contract to secure conditions for participants. Human participant research not only places subjects into potentially harmful situations, but also can lead to other risks such as exploitation and self-experimentation under non-controlled environments. There is also the risk of biases and distortions "arising from self-reporting and self-collected data". However, at this current state and time, the effects of genetic discrimination are unknown due to the lack of evidence.

"Till date no systematic evaluation of the true value of anonymity with respect to the cost of genome information and insight has been assessed in real-life settings. This would require appropriate availability of information including caveats to whole genome assessment and analysis"

Still with the rise of open genomic research, privacy protection frameworks need strengthened efforts beyond "traditional legal and organizational safeguards", technical solutions such as data encryption, and mutual understanding. In a study an article done through the University of San Diego School of Law, Sejin Ahn discovered that perhaps the most critical solution that needs to be strengthened is the legislative ban on re-identification and anti-discrimination protection. Ahn explains that these remedies must be addressed and updated in order to protect participants from privacy breaches.

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