Privacy and Genetic Testing

Genetic Testing and Molecular BiomarkersVol. 27, No. 9 PerspectiveFree AccessPrivacy and Genetic TestingRamya Arivazhagan and Sharon F. TerryRamya ArivazhaganGenetic Alliance, Damascus, Maryland, USA.University of Washington, Seattle, Washington, USA.Search for more papers by this author and Sharon F. TerryAddress correspondence to: Sharon F. Terry, MA, Genetic Alliance, 26400 Woodfield Road #189, Damascus, MD 20872-7509, USA E-mail Address: [email protected]Genetic Alliance, Damascus, Maryland, USA.Search for more papers by this authorPublished Online:27 Sep 2023https://doi.org/10.1089/gtmb.2023.29076.perspAboutSectionsPDF/EPUB Permissions & CitationsPermissionsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookXLinked InRedditEmail With the increasing rate of technological advancement in all fields, but especially those related to genetics and associated data collection, considerations about privacy have increased. These conversations have included what the word “privacy” means regarding genetic testing, how far privacy extends, various ways to ensure it, and more. Private companies, academic institutions, and other entities conduct DNA tests, and their privacy policies are under scrutiny.Because there are so many factors to consider, it has been challenging to develop legal protections that are broad enough to address all of them while including any specific regulatory principles needed (Clayton et al., 2019). However, due to genetic testing and genomic data's clear personal and consequential nature, steps are being taken to ensure privacy by governments, institutions, and communities.Privacy can be defined in several ways in the context of genomic data. According to Anita Allen, there are four conceptual categories of privacy: informational privacy, physical privacy, decisional privacy, and proprietary privacy (Clayton et al., 2019). Informational privacy refers to access to personal information, and physical privacy refers to access to people or personal spaces. Decisional privacy concerns the intervention of the government and/or third parties in personal choices. Proprietary privacy handles the appropriation and ownership of information. The first category, informational privacy, is the one that most genomic data privacy issues fall under due to the personal nature of these data.A big concern within this category is the anonymity of information. It is hard for genomic data to be truly anonymized because everyone's genetic makeup is unique, making the data uniquely personal. Another significant concern with informational privacy is security, which restricts who can access data based on their levels of authority and clearance. Confidentiality is also imperative to informational privacy, as it is a major ethical consideration when deciding where, how, and when any data get shared. When discussing privacy in the genetic field, these, among others, are the factors that must be considered.There are three main types of genetic testing in today's age. These are clinic-based genetic testing, provider-mediated genetic testing (PM-GT), and direct-to-consumer genetic testing (DTC-GT) (National Human Genome Research Institute, 2023). Clinic-based genetic testing is the classic health care provider-initiated type of testing. PM-GT is consumer initiated and has minimal involvement from health care professionals beyond ordering and/or approving the test.But genetic testing quite often does not involve doctors at all; advancements in testing capabilities and increased access to technology have broadened the net to encompass DTC testing with services such as 23andMe and Ancestry.com, through which customers can send in their own saliva samples, which are then tested and analyzed to generate a report about the customer's genetic information. Services like these do not include health care professionals at any point in the process. DTC testing contributes genetic data mainly to commercial databases that are not regulated by legal policies outside of their own consent and privacy rules.One advantage of DTC-GT is that users can choose not to send their results to their insurance providers (National Human Genome Research Institute, 2023). This restricts access to their genomic data, only in as much as the testing company assures that privacy. These testing companies usually only share data with the guarantee of anonymity and the user's explicit consent. As noted above, one's genome can hardly be anonymized. Individuals may want to protect their privacy and not share their genomic data because, among other issues, it can have unintended consequences that impact individuals other than the those being tested. These could include finding out about a genetic disorder or mutation that could impact family members, previously unknown ancestry information, and other genetic complications.In the age of big data, many of the previously implemented protections for health-related privacy do not apply. Health Insurance Portability and Accountability Act (HIPAA) does not cover anything outside of the typical health care realm of data. It does not cover data generated by services or people who are not the users themselves, such as health tracker apps, and it also does not cover user-generated data that are less explicit, such as Google searches for symptoms or the purchasing of a pregnancy test (Price and Cohen, 2019).Though many genetic tests and information are covered by HIPAA outside of the United States, these regulations do not apply (Dove et al., 2014). Other regulations such as the European Union general data protection regulation and many state and country-specific laws are in effect, and directly address genomic information (Marelli and Testa, 2018). Cloud storage and computing can make it hard to comply with these regulations.Genetic Alliance has chosen to address these concerns in the easiest possible manner: each individual controls his or her own data using our partner LunaPBC's platform (LunaPBC, 2023). The ability of everyone to make determinations about who uses their data and how, simplify the process of compliance with privacy laws, and more critical create a truly people-centered system. With increasing avenues for data to be shared, even with the “safeguard” of deidentification, it will become clearer that the only way to ensure privacy is to give individuals the tools to manage their own data easily and for their own benefit.ReferencesClayton EW, Evans BJ, Hazel JW, et al. The law of genetic privacy: Applications, implications, and limitations. J Law Biosci 2019;6(1):1–36; doi: 10.1093/jlb/lsz007. Crossref, Medline, Google ScholarDove E, Joly Y, Tassé A-M, et al. Genomic cloud computing: legal and ethical points to consider. Nat Med 2014;23(10):1271–1278; doi: 10.1038/ejhg.2014.196. Crossref, Google ScholarLunaPBC. Available from: LunaDNA.com [Last accessed: August 29, 2023]. Google ScholarMarelli L, Testa G. Scrutinizing the EU general data protection regulation. Science 2018;360:496–498. Crossref, Medline, Google ScholarNational Human Genome Research Institute. Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals. National Human Genome Research Institute: Bethesda, MD, USA; 2023. Available from: https://www.genome.gov/For-Health-Professionals/Provider-Genomics-Education-Resources/Healthcare-Provider-Direct-to-Consumer-Genetic-Testing-FAQ [Last accessed: August 29, 2023]. Google ScholarPrice WN, Cohen IG. Privacy in the age of medical big data. Nat Med 2019;25(1):37–43; doi: 10.1038/s41591-018-0272-7. Crossref, Medline, Google ScholarFiguresReferencesRelatedDetails Volume 27Issue 9Sep 2023 InformationCopyright 2023, Mary Ann Liebert, Inc., publishersTo cite this article:Ramya Arivazhagan and Sharon F. Terry.Privacy and Genetic Testing.Genetic Testing and Molecular Biomarkers.Sep 2023.267-268.http://doi.org/10.1089/gtmb.2023.29076.perspPublished in Volume: 27 Issue 9: September 27, 2023Online Ahead of Print:September 13, 2023PDF download