Genetic privacy involves the concept of personal privacy concerning the storing, repurposing, provision to third parties, and displaying of information pertaining to one's genetic information. This concept also encompasses privacy regarding the ability to identify specific individuals by their genetic sequence, and the potential to gain information on specific characteristics about that person via portions of their genetic information, such as their propensity for specific diseases or their immediate or distant ancestry. With the public release of genome sequence information of participants in large-scale research studies, questions regarding participant privacy have been raised. In some cases, it has been shown that it is possible to identify previously anonymous participants from large-scale genetic studies that released gene sequence information. Genetic privacy concerns also arise in the context of criminal law because the government can sometimes overcome criminal suspects' genetic privacy interests and obtain their DNA sample. Due to the shared nature of genetic information between family members, this raises privacy concerns of relatives as well. As concerns and issues of genetic privacy are raised, regulations and policies have been developed in the United States both at a federal and state level.
Significance of genetic information In the majority of cases, an individual's genetic sequence is considered unique to that individual. One notable exception to this rule in humans is the case of identical twins, who have nearly identical genome sequences at birth. In the remainder of cases, one's genetic fingerprint is considered specific to a particular person and is regularly used in the identification of individuals in the case of establishing innocence or guilt in legal proceedings via DNA profiling. Specific gene variants one's genetic code, known as alleles, have been shown to have strong predictive effects in the occurrences of diseases, such as the BRCA1 and BRCA2 mutant genes in Breast Cancer and Ovarian Cancer, or PSEN1, PSEN2, and APP genes in early-onset Alzheimer's disease. Additionally, gene sequences are passed down with a regular pattern of inheritance between generations, and can therefore reveal one's ancestry via genealogical DNA testing. Additionally with knowledge of the sequence of one's biological relatives, traits can be compared that allow relationships between individuals, or the lack thereof, to be determined, as is often done in DNA paternity testing. As such, one's genetic code can be used to infer many characteristics about an individual, including many potentially sensitive subjects such as:
Parentage / Non-paternity Consanguinity Adoptive Status Ancestry Propensity for Disease Predicted Physical Characteristics
Sources of genetic information
Common specimen types for direct-to-consumer genetic testing are cheek swabs and saliva samples. One of the most popular reasons for at-home genetic testing is to obtain information on an individual's ancestry via genealogical DNA testing and is offered by many companies such as 23andMe, AncestryDNA, Family Tree DNA, or MyHeritage. Other tests are also available which provide consumers with information on genes which influence the risk of specific diseases, such as the risk of developing late-onset Alzheimer's disease or celiac disease. The 2023 23andMe data breach illustrated the privacy risks associated with direct-to-consumer genetic testing, exposing profile and ethnicity information from millions of users.
Risks
Privacy Breaches Studies have shown that genomic data is not immune to adversary attacks. A study conducted in 2013 revealed vulnerabilities in the security of public databases that contain genetic data. As a result, research subjects could sometimes be identified by their DNA alone. Since genetic information can be used to identify genetic relatives, it also poses a risk to them as well. Although reports of premeditated breaches outside of experimental research are disputed, researchers suggest the liability is still important to study. While accessible genomic data has been pivotal in advancing biomedical research, it also escalates the possibility of exposing sensitive information. A common practice in genomic medicine to protect patient anonymity involves removing patient identifiers. However, de-identified data is not subject to the same privileges as the research subjects. Furthermore, there is an increasing ability to re-identify patients and their genetic relatives from their genetic data. One study demonstrated re-identification by piecing together genomic data from short tandem repeats (e.g. CODIS), SNPallele frequencies (e.g. ancestry testing), and whole-genome sequencing. They also hypothesize using a patient's genetic information, ancestry testing, and social media to identify relatives. Other studies have echoed the risks associated with linking genomic information with public data like social media, including voter registries, web searches, and personal demographics, or with controlled data, like personal medical records. There is also controversy regarding the responsibility a DNA testing company has to ensure that leaks and breaches do not happen. Determining who legally owns the genomic data, the company or the individual, is of legal concern. There have been published examples of personal genome information being exploited, as well as indirect identification of family members. Additional privacy concerns, related to, e.g., genetic discrimination, loss of anonymity, and psychological impacts, have been increasingly pointed out by the academic community as well as government agencies.
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