[1] Emerging strategies incorporate different methods, such as randomization algorithms and cryptographic approaches, to de-identify the genetic sequence from the individual, and fundamentally, isolate only the necessary information while protecting the rest of the genome from unnecessary inquiry.
[4] Genetic material can now be extracted from a person's saliva, hair, skin, blood, or other sources, sequenced, digitized, stored, and used for numerous purposes.
Already, genetic sequencing has expedited prognostic counseling in monogenic diseases that requires rapid, differential diagnosis in neonatal care.
[10] Incipient legislations have manifested in response to genetic exceptionalism, the heightened scrutiny expected of genomics research, such as the 2008 Genetic Information Nondiscrimination Act (GINA) in the United States; however, in many cases, the scope and accountability of formal legislation is rather uncertain, as the science seems to be proceeding at a much more rapid pace than the law, and specialized ethics committees have had to fill this necessary niche.
[1] As computational genomics is such a technical field, the translation of expert language to policy is difficult - let alone translation to laymen language -, presenting a certain barrier to public perception about the capabilities of current genomic sequencing technologies which, ultimately, makes the discourse about protecting genetic privacy without impeding scientific advancement an even more difficult one to have.
Furthermore, research and healthcare are not the only fields that require formal jurisdiction; other areas of concern include the genetic privacy of those in the criminal justice system and those who engage with private consumer-based genomic sequencing.
[8] The European Court of Human Rights decided, in the case of S and Marper v United Kingdom (2008), that the government must present sufficient justification for differential treatment of DNA profiles of those in the criminal justice system compared to that of non-convicted individuals; essentially, there must be no abuse of retained biological materials and DNA-information.
[8] The decision highlighted several existing issues with the current system that poses privacy risks for the individuals involved: the storage of personal information with genetic information, the storage of DNA profiles with the inherent capacity to determine genetic relationships, and fundamentally, the act of storing of cellular samples and DNA profiles produces opportunities for privacy risks.
Critics have argued that this long-term retention could lead to stigmatization of affected individuals and inhibit their re-integration into society and also, are subject to misuse by discriminatory behavior innate to the criminal justice system.
[8] The decisions, however, lacked specific details on how biological materials can be obtained and how genetic fingerprinting can be utilized; only regulations of blood tests and physical examinations were explicitly outlined.
In 1998, the German Parliament authorized the establishment of a national DNA database, due to mounting pressure to prevent cases of sexual abuse and homicides involving children.
Since its implementation, there has been a monthly addition of 8000 new sets to the database, bringing into question the necessity of such wide scale data collection and whether or not the wording of the provisions provided effective privacy protection.
[8] A recent controversial decision by the German government expanded the range of familial searching by DNA dragnet to identify genetic relatives of sexual and violent perpetrators – an action that was previously deemed as having no legal basis by the Federal Supreme Court of Germany in 2012.
[8] The National Forensic Service of South Korea and the Public Prosecution Authority of South Korea established separate DNA analysis departments in 1991, despite initial public criticism that the data collection was enacted without considering the informational privacy of subjects involved, a criticism that turned to support with a series of high-profile cases.
The incomprehensive crime categories included were only applicable in obtaining biological information without an individual's consent, and the protocol to destroy collected samples were unclear, exposing them to misuse.
It is currently undergoing a plan to create a more cohesive framework for data sharing among existing biobanks, which was previously under the jurisdiction of overlapping and confusing regulatory laws.
[1] This differential privacy approach is a simple evaluation of the security of a genomic database and many researchers provide "checks" on the stringency of existing infrastructures.
As this high-capacity process is often divided up between public and private computing environments, there is a lot of associated risk and stages where genetic privacy is particularly vulnerable; therefore, current studies focus on how to provide secure operations within two different data domains without sacrificing efficiency and accuracy.
[15] However, as alignment processes tends to be high volume and work intensive, most sequencing schemes still functionally require third party computing operations, which reintroduce privacy risks in the public cloud domain.
Numerous genetic screening tests rely on string searching and have become commonplace in healthcare; therefore, the privacy of such methodologies have been an important area of development.
[17][18] Another solution developed three protocols to secure calculating edit distance using intersections of Yao's Garbled Circuit and a banded alignment algorithm.
[20] In another study, the nature of linkage disequilibrium is utilized in selecting the most useful datasets while maximizing protection of patient privacy with injected noise; however, it may lack effective disease association capabilities.
[21] Critics of these methods note that a substantial amount of noise is required to satisfy differential privacy for a small ratio of SNPs, an impracticality in conducting efficient research.