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.Maryland v. King, 569 U.S. 435 (2013). Due to the shared nature of genetic information between family members, this raises privacy concerns of relatives as well.Ram, Natalie (July 2018). "Incidental Informants: Police Can Use Genealogy Databases to Help Identify Criminal Relatives--But Should They?". Maryland Bar Journal.
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.
Law Enforcement Additionally, for criminal justice and privacy advocates, the use of genetic information in identifying suspects for criminal investigations proves worrisome under the United States Fourth Amendment—especially when an indirect genetic link connects an individual to crime scene evidence.Ram, Natalie (2015). "DNA by the Entirety". Columbia Law Review. 115: 923. Since 2018, law enforcement officials have been harnessing the power of genetic data to revisit cold cases with DNA evidence.Murphy, Heather (2019-04-25). "Sooner or Later Your Cousin's DNA Is Going to Solve a Murder". The New York Times. ISSN 0362-4331. Retrieved 2020-05-19. Suspects discovered through this process are not directly identified by the input of their DNA into established criminal databases, like CODIS. Instead, suspects are identified as the result of familial genetic sleuthing by law enforcement, submitting crime scene DNA evidence to genetic database services that link users whose DNA similarity indicates a family connection.Hill, Kashmir; Murphy, Heather (2019-11-05). "Your DNA Profile is Private? A Florida Judge Just Said Otherwise". The New York Times. ISSN 0362-4331. Retrieved 2020-05-19. Officers can then track the newly identified suspect in person, waiting to collect discarded trash that might carry DNA in order to confirm the match.
Despite the privacy concerns of suspects and their relatives, this procedure is likely to survive Fourth Amendment scrutiny. Much like donors of biological samples in cases of genetic research,Moore v. Regents of the Univ. of Cal., 793 P.2d 479 (Cal. 1990).Greenberg v. Miami Children's Hosp. Research Inst., Inc., 264 F.Supp.2d 1064 (S.D. Fla. 2003). criminal suspects do not retain property rights in abandoned waste; they can no longer assert an expectation of privacy in the discarded DNA used to confirm law enforcement suspicions, thereby eliminating their Fourth Amendment protection in that DNA. Additionally, the genetic privacy of relatives is likely irrelevant under current caselaw since Fourth Amendment protection is "personal" to criminal defendants.
Psychological Impact In a systematic review of perspectives toward genetic privacy, researchers highlight some of the concerns individuals hold regarding their genetic information, such as the potential dangers and effects on themselves and family members. Academics note that participating in biomedical research or genetic testing has implications beyond the participant; it can also reveal information about genetic relatives. The study also found that people expressed concerns as to which body controls their information and if their genetic information could be used against them.
Additionally, the American Society of Human Genetics has expressed issues about genetic tests in children. They infer that testing could lead to negative consequences for the child. For example, if a child's likelihood for adoption was influenced by genetic testing, the child might suffer from self esteem issues. A child's well-being might also suffer due to paternity testing or custody battles that require this type of information.
Regulations
When the access of genetic information is regulated, it can prevent insurance companies and employers from reaching such data. This could avoid issues of discrimination, which oftentimes leaves an individual whose information has been breached without a job or without insurance.
In the United States
Federal Regulation In the United States, biomedical research containing human subjects is governed by a baseline standard of ethics known as The Common Rule, which aims to protect a subject's privacy by requiring "identifiers" such as name or address to be removed from collected data. A 2012 report by the Presidential Commission for the Study of Bioethical Issues stated, however, that "what constitutes 'identifiable' and 'de-identified' data is fluid and that evolving technologies and the increasing accessibility of data could allow de-identified data to become re-identified". In fact, research has already shown that it is "possible to discover a study participant's identity by cross-referencing research data about him and his DNA sequence … [with] genetic genealogy and public-records databases". This has led to calls for policy-makers to establish consistent guidelines and best practices for the accessibility and usage of individual genomic data collected by researchers.
Privacy protections for genetic research participants were strengthened by provisions of the 21st Century Cures Act (H.R.34) passed on 7 December 2016 for which the American Society of Human Genetics (ASHG) commended Congress, Senator Warren and Senator Enzi.
The Genetic Information Nondiscrimination Act of 2008 (GINA) protects the genetic privacy of the public, including research participants. The passage of GINA makes it illegal for health insurers or employers to request or require genetic information of an individual or of family members (and further prohibits the discriminatory use of such information). This protection does not extend to other forms of insurance such as life insurance.
The Health Insurance Portability and Accountability Act of 1996 (HIPAA) also provides some genetic privacy protections. HIPAA defines health information to include genetic information,45 CFR § 160.103 (2019). which places restrictions on who health providers can share the information with."Your Health Information Privacy Rights" (PDF). U.S. Department of Health and Human Services. Retrieved May 28, 2020.
State Regulation