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An individual's privacy should be respected when their genomic information is used for research, clinical applications or other uses. This page summarizes genetic and genomic privacy in these domains, along with information on the specific laws and policies that protect the privacy of genetic and genomic information. In the United States, the applicable privacy protections rest heavily on how and why the information is collected and stored, and stakeholders continue to debate whether we need further measures.

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There are laws and policies that serve to protect the privacy of individuals' genomic information.

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About Gale In Context: Global Issues

Analyze important global issues and events through topic overviews, international viewpoints, news, and multimedia content.

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About Gale In Context: Global Issues Analyze important global issues and events through topic overviews, international viewpoints, news, and multimedia content. Don't know how to login? Depending on this location's preferences, the log-in process could include your library card number, a student or user ID, or another provided password.

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Share data broadly to maximize scientific research

A group may receive discrimination if they have a high risk of a genetic variant associated with a disease.

Genetic information is used to identify criminals and the falsely convicted.

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Health Insurance Portability and Accountability (HIPPA) promotes scientific progress while protecting patient privacy.

Genetic Information Nondiscrimination Act (GINA) restricts access to health insurance and employers to prevent genetic discrimination.

The Common Rule protects human subjects with informed consent setting the baseline of ethics in federally funded research.

NIH Genomic Data Sharing Policy protect research participants privacy while allowing access to data for research. Research data is held in federal databases available to researchers who submit a request to access. However, some access is readily accessible.

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DNA can provide information on genetic ancestry, and possible genetic risk for health conditions.

No Federal law prohibits companies giving genetic information to third parties.

There are state laws and regulations that protect genomic privacy and data. However, vary based on how states enforce laws, who takes the test, what it determines, what it will be used for and what states its taken.

Informed consent should elaborate the use of research results and who is accessible to.

the Freedom of Information Act (FOIA) gives citizens the  right to access federal documents upon request.

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Marco D. Sorani, John K. Yue, Sourabh Sharma, Geoffrey T. Manley, Adam R. Ferguson, The TRACK TBI Investigators, Shelly R. Cooper, Kristen Dams-O'Connor, Wayne A. Gordon, Hester F. Lingsma, Andrew I. R. Maas, David K. Menon, Diane J. Morabito, Pratik Mukherjee, David O. Okonkwo, Ava M. Puccio, Alex B. Valadka, and Esther L. Yuh

Capitalizing on the Promise of Genetic Data

Genetic data has provided valuable insights into disease cause and risk as well as drug discovery and development in neuroscience. For example, human genetics studies have provided insights into cognition ( Glahn et al. 2013) and psychiatric disorders ( Kao et al. 2010). The genetic basis of several inherited disorders such as Down's Syndrome and Tay-Sachs disease are well known, and other associations such as the role of APOE in Alzheimer's disease are still extensively studied. However, despite advances in understanding the human genome, there are concerns about the privacy of genetic data and potential discrimination resulting from its disclosure, and there has been incomplete oversight of genetic testing ( Scheuner et al. 2008).

At the same time, there have been increased efforts to share research data to enable scientific discovery and achieve cost efficiencies. It has become clear that no scientist can guarantee absolute privacy, and it is also increasingly recognized that research will work better if scientists have more information about the people they study and that being identifiable has some benefits ( Angrist 2013). There are examples of pioneering efforts in neuroscience research. The fMRI Data Center is a leader in open-access data sharing in the functional neuroimaging community, overcoming logistical, cultural and funding barriers ( Mennes et al. 2013). Similarly, the INCF Task Force on Neuroimaging Datasharing has started work on tools to ease and automate sharing of raw, processed, and derived neuroimaging data and metadata ( Poline et al. 2012).

In the United States, legislation such as the Health Insurance Portability and Accountability Act (HIPAA) ( Gostin 2001) and the Genetic Information Nondiscrimination Act have attempted to limit access to sensitive data and discrimination related to health insurance and employment, but it has been known for over a decade that seemingly anonymized data can be related to publicly available information to identify specific individuals ( Braun et al. 2009) using diagnosis codes ( Tamersoy et al. 2010), rare visible disorders ( Eguale et al. 2005), allele frequencies ( Craig et al. 2011), place and date of birth ( Acquisti and Gross 2009), a combination of a surname with age and state ( Gymrek et al. 2013), and patient health location visit patterns ( Malin 2007). Re-identification methods have included genotype-phenotype inferences, family structures, and dictionary attacks ( Malin 2005).

In total, these facts have changed the goals of many research organizations from making data re-identification impossible to making it highly improbable and educating stakeholders about the issues and risks, while enhancing research collaborations by sharing data. Here, we discuss data privacy and sharing approaches, we provide recommendations and describe our own experiences in the context of biobanking, and we look ahead to address challenges and opportunities for data privacy and sharing.

Data Sharing "Carrots" and "Sticks"

Data sharing is often driven by a set of incentives and consequences. Benefits include a desire to "democratize" data, an evolution towards more "big science" collaboration, a desire to minimize the burden on research participants, technical developments such as web based databases, standardized data sharing guidelines, and opportunities for exclusivity in manuscript submission and citation of data sets. For example, the "data paper" allows researchers to publish their datasets as a citable scientific publication, gives credit that is recognizable within the scientific community, and ensures the quality of the published data and metadata through the peer review process ( Gorgolewski et al. 2013). Consequences and risks of not sharing data include declining financial resources, a need to manage data beyond the lifecycle of a grant, and requirements by journal editors. Challenges to effective sharing remain, including the removal of disincentives for data sharing by industry, the reduction of litigation risks, the availability of patient level data, and the willingness to foster discussion in cases of differences of interpretation of data.

Privacy Strategies, Processes and Technologies

To address privacy objectives, a wide variety of strategies have been proposed to protect sensitive data. Many organizations rely on the Safe Harbor Standard of the HIPAA Privacy Rule, which enumerates 18 identifiers that must be suppressed ( Malin et al. 2011), though HIPAA has also been criticized by the Institute of Medicine for provisions that seem to hinder data access while failing to provide substantive privacy protection ( Franc et al. 2011). De-identification procedures have been applied to a variety of types of free-text data, including electronic health records ( Meystre et al. 2010), laboratory and clinical narrative reports ( Friedlin and McDonald 2008), discharge and order summaries ( Aberdeen et al. 2010), and pathology reports ( Thomas et al. 2002), as well as non-text data formats such as images ( Gonzalez et al. 2010) and geocode data ( Cassa et al. 2006). Johnson et al. tested a method for generating global unique identifiers to link data and specimens by sending encrypted information to a server application with over 8000 individuals in an autism study. They implement a balance between distinguishing individuals to gain research insights and protecting confidentiality ( Johnson et al. 2010).

A recent survey of biopharma companies found that the most common data coding practice was de-identification. Only 10 % of companies anonymized their data. Most reported retaining a secondary key internally either by a party independent of the one responsible for de-identification or by the same party but with restricted access (38 %). De-identification programs are difficult to implement, cumbersome, costly, inefficient and offer little added privacy protection ( Franc et al. 2011).

Privacy processes and technologies have evolved together. Processes include establishing an "honest broker" that provides investigators with de-identified or limited datasets under stipulations contained in a signed data use agreement ( Liu et al. 2009), and establishing data enclaves where investigators apply to obtain restricted access to data for a limited time with the understanding they will be monitored ( Rodgers and Nolte 2006). Some of these strategies may be difficult to implement and explain to patients and other stakeholders, and they may not provide added benefit proportional to the cost. At the same time, many automated algorithms for anonymizing data are now available ( Loukides et al. 2010). Algorithms include family relation linking ( Malin 2006), encryption ( Landi and Rao 2003), and hiding functions ( Huang et al. 2010). In addition, database software systems are a mature, increasingly ubiquitous technology and come with robust security and audit functionality. For example, a recent public epidemiology project implemented a database system for data privacy using a multi-layered role and right-of-access control plus de-identification ( Meyer et al. 2012). Researchers, particularly in academia, must be prepared to move past spreadsheets.

Biobanks as Laboratories for Data Sharing

The emergence of genomic technologies has spurred rapid growth in the collection of biosamples and the development of biobanks. While some types of research data can be useful even if they are "permanently" anonymized, biosample data poses unique challenges for security from a research perspective. Genetic data must be kept private as stipulated in informed consent agreements, but other related data does not face this requirement or must in fact remain identifiable. To achieve patient confidentiality, DNA samples can be relabeled with unique identifiers that are different than the identifiers initially assigned in a clinical trial. This relabeling or double-coding process is referred to as de-identification. With data de-identification, the data belonging to an individual in the clinical environment can still be associated with the same individual in a de-identified research context. An increasingly common research objective involves building analytical databases using de-identified clinical data while enabling the data set to be updated with new pseudonymous data over time ( Noumeir et al. 2007).

In the United States, biobanks in academia, government, and industry have implemented a range of sharing and security practices. At Vanderbilt University, a DNA biobank linked to data from an electronic medical record (EMR) system implemented a de-identified mirror image of the EMR, a policy of extracting DNA from discarded blood samples, revision of standard consent, and procedures for de-identification. About 700 to 900 samples were added per week ( Roden et al. 2008). The National Mesothelioma Virtual Bank is based on the caTISSUE Clinical Annotation Engine developed in cooperation with the Cancer Biomedical Informatics Grid and includes paraffin embedded tissues, tissue microarrays, serum and genomic DNA. It provides real-time access to de-identified data depending on user authorization ( Amin et al. 2008). Internationally, practices also vary. The Genome Austria Tissue Bank developed data protection tools and considered ethical, legal and social issues as it changed from a population-based tissue bank to a disease-focused biobank ( Asslaber et al. 2007). The National Cancer Center Hospital in Tokyo established a bio-repository in 2002 for both de-identified and non-de-identified post-clinical test samples. A portion of samples are transferred to new tubes before and after being frozen. This transfer is the only de-identification procedure ( Furuta et al. 2011).

Recommendations and Examples

For those new to multicenter studies and 'big data' analyses of genomic and clinical data, several guiding principles may be useful. Other resources such as the NIH's "Data Sharing Policy and Implementation Guidance" and the NSF's "Data Sharing Policy" should also be consulted.

Institutional review board (IRB) approval of study designs, informed patient consent of study participation, and understanding of HIPAA requirements are essential.

A flexible and powerful computing platform for data management is critical but does not have to be complex or expensive. Emailing spreadsheets will lead to problems - setting up an open source database with web access has become increasingly feasible.

There are generally four categories of coding for data security: identified, coded (including single-coded and double-coded or "de-identified"), anonymized, and anonymous. It is necessary to select the appropriate level of data coding to balance patient security and research purposes.

Providing data alone is not enough to enable effective sharing - data dictionaries describing the data and, of course, human support are critical. Common analytical methods and tools further support sharing of metadata and results.

Realistic expectations regarding sharing (e.g., database updates and speed, publication plans, etc.) and privacy (e.g., who will have access to what information, etc.) will establish trust.

Thinking ahead to future requirements (e.g., will investigators want to obtain consent to re-contact subjects for follow-up?) and challenges (e.g., is there a plan in case of data security breach?) will enhance likelihood of overall success and sustainability.

In general, collaboration with a cross-functional team of clinicians, statisticians, geneticists, informaticians, and other relevant subject matter experts will also help identify opportunities and challenges.

An Example of Multi-Dimensional Data Sharing: TRACK-TBI

Data-sharing for precision-medicine in neuroscience will require co-mingling of biorepository, brain imaging and functional data, raising specific challenges. Our research group is participating in an example of successful de-identified data sharing: the Transforming Research and Clinical Knowledge for Traumatic Brain Injury (TRACK-TBI), a series of two large-scale prospective multicenter observational trials for improving traumatic brain injury diagnosis and therapeutic targeting (ClinicalTrials.gov Identifiers NCT01565551, pilot 2010-13; NCT02119182, ongoing 2014-18) ( Yue et al. 2013). The pilot phase consisted of three centers and collected data on 599 patients. The TRACK-TBI project applies the official NIH/NINDS TBI Common Data Elements (TBI-CDEs) and standardized collection protocols for biospecimens ( Diaz-Arrastia et al. 2014), imaging ( Yuh et al. 2013; 2014), and neurocognitive and neuropsychiatric outcome metrics ( Dams-O'Connor et al. 2013; Lingsma et al. 2014).

Multicenter patient data, including protected health information (PHI) as defined by HIPAA, is collected under informed consent into a central, custom-designed repository (QuesGen Systems, Inc., Burlingame, CA) that assigns a globally unique identifier. The system manages permissions ranging from 'no-PHI', to 'local PHI only', to 'full-access'. The 'full-access' view is only available to a small quality control and assurance team. Investigators have access to only local PHI from their enrolling center, and only if access is pre-approved by the local institutional review board. Multicenter data are broadly searchable in the no-PHI view by the full group of TRACK-TBI investigators. Ultimately, portions of the 'no-PHI' view of TRACK-TBI data will be publicly accessible for research purposes through the US Federal Interagency TBI Research (FITBIR) informatics system ( https://fitbir.nih.gov). Additionally, data use agreements guide the handling of data, and subject timeline data are recoded from dates to days from baseline. These processes have been expanded upon in the current TRACK-TBI study funded for 11 centers with goals of capturing data on over 3000 patients in the next 4 years.

Privacy Concerns and Use

Patients and research subjects have long expressed concern about privacy of health information. In a study by King et al. (2012), participants preferred to be asked for permission before their health information was used for any purpose other than medical treatment (92 %), and they wanted to know the details of the research before allowing the use of their health records (83 %). The study showed that there are some particularly sensitive issues, including family medical history, genetic disorders, mental illness, drug or alcohol related incidents, lists of previous procedures, and current medications. There are also ethical doubts about the ability of cognitively impaired subjects to give informed consent or addicted subjects to participate in studies that involve the administration of drugs of dependence. Tests to identify addicts or predict risk of addiction will raise concerns about invasion of privacy, third-party use of data, and the powers of courts to coerce defendants to undergo such tests ( Hall et al. 2004).

Privacy around genetic data has also become a concern among researchers. Lapses in data security can result in undesired publicity and expense ( Benitez and Malin 2010). Kho et al. (2009) write that "to ensure that legislation on privacy does not unduly bias observational studies using medical records, thoughtful decision making by research ethics boards on the need for mandatory consent is necessary". Again, attitudes and practices vary widely. In interviews with administrators at Canadian universities, 47 % of sites required individual patient consent for studies to proceed, but 45 % did not require consent or suggested a notification and opt-out process ( Willison et al. 2008). Lane and Schur (2010) proposed that a guiding research principle should be "to generate released data that are as close to the maximum acceptable risk as possible. HIPAA and other privacy measures can perhaps be seen as having had the effect of lowering the 'maximum acceptable risk' level and rendering some data unreleasable."

Going Forward

The ability to integrate clinical, genetic, imaging, and other types of biomedical data will be of tremendous value in ongoing efforts to discover and develop biomarkers and drugs to address unmet medical needs. New technologies and processes can simultaneously support data privacy, data sharing, and research objectives. Here, we described several basic principles as well as experiences from our research group to illustrate that data privacy and sharing can be accomplished together. Our experience highlights an approach in the context of an ambitious basic and clinical research collaboration.

Van Horn and Ball (2008) write that although it will not be "a pain-free process, with increased data availability, scientists from multiple fields can enjoy greater opportunity for novel discoveries about the brain in health and disease." Despite the rapid pace of technological change, it will be critical to think carefully about balancing concerns and objectives. Neuroscientists and neurologists, as well as regulators and patients, can seek opportunities to collaborate with research and clinical colleagues as they advocate for data privacy and high quality science and medicine.

Acknowledgments

Funding Authors supported by Department of Defense United States Army Medical Research Acquisition Activity W81XWH-13-1-0441 (GTM), and NIH Grants NS069409 (GTM) and NS069409-02S1 (GTM), NS067092 (ARF), NS069537 (ARF), Craig H. Neilsen foundation Grant 224308 (ARF) and Wings for Life Foundation Grant WFL-US-008/12 (ARF).

Footnotes

Conflicts of Interest The authors declare that they have no conflicts of interest.

References

Lingsma H, Yue JK, Maas A, Steyerberg EW, Manley GT, Cooper SR, Dams-O'Connor K, Menon D, Mukherjee P, Okonkwo DO, Puccio AM, Schnyer DM, Valadka A, Vassar MJ, Yuh EL. Outcome Prediction After Mild and Complicated Mild Traumatic Brain Injury: External Validation of Existing Models and Identification of New Predictors Using the TRACK-TBI Pilot Study. Journal of Neurotrauma. 2014 Jul 15; Epub ahead of print. [Google Scholar]

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Marco D. Sorani, John K. Yue, Sourabh Sharma, Geoffrey T. Manley, Adam R. Ferguson, The TRACK TBI Investigators, Shelly R. Cooper, Kristen Dams-O'Connor, Wayne A. Gordon, Hester F. Lingsma, Andrew I. R. Maas, David K. Menon, Diane J. Morabito, Pratik Mukherjee, David O. Okonkwo, Ava M. Puccio, Alex B.

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- here are concerns about the privacy of genetic data and potential discrimination resulting from its disclosure, and there has been incomplete oversight of genetic testing
- started work on tools to ease and automate sharing of raw, processed, and derived neuroimaging data and metadata
- to address privacy objectives, a wide variety of strategies have been proposed to protect sensitive data

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- human genetics studies have provided insights into cognition and psychiatric disorders
- the issues and risks, while enhancing research collaborations by sharing data
- Consequences and risks of not sharing data include declining financial resources, a need to manage data beyond the lifecycle of a grant, and requirements

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- Genetic data has provided valuable insights into disease cause and risk as well as drug discovery and development in neuroscience
- data sharing in the functional neuroimaging community, overcoming logistical, cultural and funding barriers

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no scientist can guarantee absolute privacy, and it is also increasingly recognized that research will work better if scientists have more information about the people they study and that being identifiable has some benefits

# data[].attributes.body
system implemented a de-identified mirror image of the EMR, a policy of extracting DNA from discarded blood samples, revision of standard consent, and procedures for de-identification. About 700 to 900 samples were added per week

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Research article

Open Access

Published:

BMC Medical Ethics 21, Article number: 13 (2020) Cite this article

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Abstract

Background

When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals (GHPs) is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). In New South Wales (NSW), Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP's awareness and experience of the legislation and guidelines.

Methods

An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as 'good' or 'poor'. Chi square tests assessed associations between confidence and knowledge scores.

Results

While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and 'good' theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated.

Conclusions

There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced.

Peer Review reports

Background

Individuals receiving genetic test results are frequently the gatekeepers of information that might be relevant to their genetic relatives. Indeed, the dissemination of genetic information within a family may be impacted by numerous factors, such as divorce, family estrangement, adoption, and wanting to prevent stress and anxiety [ 1, 2]. However, some probands (that is, the first person in a family in whom the genetic nutation is identified) or another family member where there is incapacity in the proband, choose not to communicate the information regarding their test results and their potential impact to at-risk relatives; others fail to despite their intention to do so and having opportunities where this may have occurred [ 3]. Hereafter the former is referred to as active non-disclosure and the latter as passive non-disclosure. Accordingly, genetically at-risk relatives may be deprived of the chance to make informed choices about whether to seek genetic testing and take action in light of results [ 1, 4]. Previous research indicates that even when an individual recognises his or her responsibility to convey pertinent genetic information to relatives, the communication process is not always straightforward [ 1]. Factors include wishing to avoid causing anxiety and distress among family members, or a lack of confidence about how to deliver the information [ 1]. Studies also highlight that genetic health professionals (GHPs; i.e. clinical genetics specialists (CG), genetic counsellors (GC) and other medical specialists with genetics expertise) are rarely informed of a proband's intention to actively not disclose genetic test results [ 1, 5]. Where it is identified, active non-disclosure can often be addressed during counselling. However, passive non-disclosure often remains undiscovered [ 5].

Genetic counselling is inherently familial [ 2, 6]. Depending on the genetic condition in question, various concerns may arise as to the nature of the disclosure, its timing, identifying the individuals at risk and arbitration of who should be informed [ 1]. GHPs need to be aware of complex family dynamics and reasons for non-disclosure, to be able to counsel the proband appropriately and promote accurate and effective disclosure of pertinent information within the family [ 2, 7]. While it has been shown that in most cases, probands are willing to share genetic information with first-degree relatives [ 8, 9], they do not seem to feel a responsibility to inform family members with whom they are not in touch or to relatives more distantly related than first-degree [ 2, 8]. When faced with a situation in which a client refuses or otherwise fails to inform their at-risk family members, GHPs face a conflict [ 8] between their responsibility to maintain client confidentiality and their desire to prevent harm and promote the interests of at-risk relatives. An additional factor in disclosure processes is relatives' autonomy and purported right not to know [ 2, 10, 11].

The ethical obligation to prevent harm to at-risk relatives and promote the duty of care by GHPs is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). Australia is a federated nation made up of six states, and 10 territories (two of which have a limited right of self-government). The federal Privacy Act (1988) applies to all health professionals working in commonwealth bodies and private sector companies with an annual revenue over 3 million dollars. This would include GHPs working in certain private practice settings, but not those working in state public hospitals - where the majority are currently employed. To address the ethical aspects of the duty of care in regard to at-risk genetic relatives and the conflict with the duty of confidentiality to the probands, in 2006, amendments to section 95AA of the Australian federal Privacy Act 1988 were introduced, allowing for the disclosure of relevant genetic information to at-risk genetic relatives without the client's consent, if there is 'reasonable belief' that disclosure is necessary to "lessen or prevent a serious threat to the life, health or safety" of the relatives. Importantly, while the amendment permitted overriding the duty of confidentiality and allowed the disclosure without consent, the amendment did not confer a duty to warn. The amendment also marked a change in the definition of the threat, which previously required it be imminent. The amended Privacy Act enabled the Privacy Commissioner to approve Guidelines developed by the National Health and Medical Research Council, published in 2009 (and amended in 2014) [ 12], outlining a framework that provides medical practitioners working in the private sector with nine central steps that must be met when choosing to disclose necessary information without the proband's consent.

However, as the majority of Australian GHPs work in state-based public hospitals, they are not bound by the commonwealth Act. GHPs working in the public system in each State and the two self-governing Territories operate under relevant legislation and regulatory instruments, but in most Australian jurisdictions there remains a lack of harmonisation with the federal legal instruments governing genetic non-disclosure [ 13, 14]. New South Wales (NSW) is an exception to this general status quo. In 2012 NSW introduced the Health Legislation Amendment Act 2012 to amend several distinct Health Acts, including the Health Records and Information Privacy Act 2002. This allowed the NSW Information and Privacy Commissioner to approve the NSW Health Privacy Guidelines [ 15] which effectively synchronised NSW and federal regulation of the disclosure of genetic information by medical practitioners without consent. So, medical practitioners with clinical genetics expertise working in the NSW Public System as well as those in private practice are now effectively governed by the same regime for responding to non-disclosure. See Table 3 for a summary of the Guidelines.

Awareness or understanding of privacy guidelines governing the practice of GHPs is an important component of professional practice, but data from previous international studies suggests that this is lacking [ 10]. These studies also suggest that in practice GHPs do not break client confidentiality as often as previously indicated in hypothetically-based studies [ 16, 17, 18], acknowledging that most non-disclosure cases are not intentional (passive) and often resolve on their own after counselling, time and assistance [ 19]. There are both legal and ethical aspects of disclosure without consent, described by Dove et al. (2019) as co-existing duties: "a duty of confidentiality owed to the patient and a putative duty of care to the patient's close relatives" [ 20]. There is international debate over a GHPs' legal duty to warn relative/s where protection of a proband's privacy and confidentiality may lead to potential serious harm for a relative/s [ 13, 21]. Illustrative of this is the ongoing UK legal case of ABC v St George NHS Trust where a father who had recently been diagnosed with Huntington disease refused consent for his neurology team to disclose this genetic information to his pregnant daughter. Disclosure was subsequently and unintentionally made to ABC that her father had Huntington disease (and therefore she was at 50% risk of also developing the condition) after she had given birth [ 20]. The current appeal is ongoing. Initially the case that the Defendants (St George NHS Trust) had a relationship with the Claimant (ABC) leading to a duty of care: "to take reasonable steps to prevent the claimant from suffering injury" and that the Defendants should have provided information "in a timely manner when it was known, or ought to have been known, that the Claimant was pregnant" and that the Claimant should have been given the opportunity for "urgent diagnosis and testing" was struck out - see EWHC 1394 (QB) ([2015]) [ 22]. The Claimant (ABC) appealed to the Court of Appeal, who allowed the appeal against the striking out, deciding that she did have an arguable case in negligence (and under the Human Rights Act 1998- see [2017] PIQR P15, [2017] EWCA Civ 336 [ 23]. The matter was sent back to the High Court for trial which is currently in process. The findings have the potential to impact regulation in jurisdictions not only in the UK but more broadly as it will be important for GHPs to be clear of their roles, responsibilities and boundaries [ 14]. Thus, exploration of NSW GHPs' awareness of, or whether they act in accordance with, guidelines introduced to facilitate disclosure of genetic information without consent may inform any future support needed with the introduction of such legislation in other jurisdictions. To this end, this study was designed to evaluate three central elements in relation to GHPs and the NSW Health Privacy Guidelines: (1) awareness, (2) knowledge of the guidelines' content, limits and clinical application, and (3) confidence to take on the role of disclosure without consent.

Methods

Sample and recruitment

GHPs were eligible to participate if they had worked for over a year (or one-year full-time equivalent) in the role of a genetic counsellor, a clinical geneticist or other medical specialist with genetics expertise (such as in cancer or laboratory genetics) in NSW within the 3 years previous to the study implementation (June 2016). Participants were recruited via e-mails through Listservs to members of the NSW Genetic Counsellors' Network (NGCN), the NSW branch of the Australasian Association of Clinical Geneticists (AACG) and the NSW branch of the Human Genetics Society of Australasia (HGSA). Additionally, the study was promoted during genetics services journal club meetings in two Sydney tertiary hospitals, and at two conferences in 2016: HGSA and Familial Aspects of Cancer: Research and Practice. Participants implied their consent through submitting their questionnaire after having acknowledged that they had read the Participant Information as approved by the University of Sydney's Ethics Committee (see Additional file 1).

Survey instrument

The online questionnaire was developed by the research team, piloted and hosted via Survey Monkey (Survey Monkey Inc. San Mateo, California, USA). Items were guided by the literature [ 10, 16, 17, 18]. The survey was divided into five different sections - demographics, awareness and theoretical knowledge, clinical scenarios to assess application knowledge, attitudes and confidence, and previous experience with clients who actively refused to notify at-risk relatives.

Scenarios.

Four representative clinical scenarios were included. These are summarised in Table 1, with full scenarios in Additional file 1, questions 11-14.

Embedded education

After submitting their questionnaires, participants were provided with a link to a questionnaire answer sheet (developed by the research team) relating to the survey items that tested knowledge (see Additional file 2) and a link to a Centre for Genetics Education webpage containing the NSW Guidelines Fact Sheet [ 24] .

Data collection and analysis

Data collection was anonymous and took place over 4 months. Three reminders were sent out during this period: 1) 2 weeks after the survey opening, 2) 4 weeks after the survey opening, 3) 3 months after initiating data collection. The data was downloaded into Excel and SPSS v 23.0 (IBM Corp: SPSS Statistics for Windows Version 23.0, Arnouk, NY, IBM Corp) for analysis. After data cleaning, theoretical knowledge (questions 9-10) and clinical application knowledge (questions 11-14) data was dichotomised into correct (1) or incorrect/ unsure (0) responses. A cumulative knowledge score was calculated and scores above the median for non-parametric data or above the mean for parametric data were classified as "good knowledge" (1) or "poor knowledge" (0). Chi square tests were used to identify associations between demographics, confidence and knowledge scores.

Results

Sample

In total, 37/ 44 responses were valid for analysis. Of the 7 invalid responses, one was blank, and six others were rejected as they did not meet the inclusion criteria or omitted demographic data. Respondents included clinical geneticists/medical specialists with genetics expertise ( n = 8) and 29 genetic counsellors (including a social worker working in a genetics service) (see Table 2). The majority reported being employed in a genetic counselling role, most had at least 2 years of experience in the field of clinical genetics, and nearly half had worked in the field for at least 11 years. The majority of the respondents were employed in roles in the public sector only: with approximately half working in specialty areas, a quarter in general genetics only, and a third were working in both general and specialty areas.

Knowledge of guidelines

Two thirds of respondents (23/37) reported having read the NSW Health Privacy Guidelines prior to completing the survey, and many (22/37), demonstrated "good knowledge" of the Guidelines, scoring above the median of 9/14 (range 4-13) (Table 3). A significant association was identified between "good" theoretical knowledge score and having read the guidelines (χ ² = 8.91. df = 1, p  < 0.05). No association was found between a 'good' theoretical knowledge score and any of the demographic factors.

All but one participant (36/37) were aware that all steps of the process, including reasoning to disclose information to genetic relatives, should be fully documented (guideline 9) and that disclosure without consent should be limited to information that is necessary for notifying a relative of an increased genetic risk (guideline 7). Most (31/37) were also aware that disclosure should avoid identifying the client if possible (guidelines 6 and 7) and 34/37 that specific ethical considerations (guideline 2) must be deliberated during the decision-making process. Many (25/37) were aware that disclosure without consent should generally be limited to recipients no further than third-degree relatives (guideline 8).

However, only half of participants (19/37) were aware that the proband should be notified of the disclosure unless there is 'contradictory indication' not to do so (guideline 8); and only 17/37 were aware that disclosure without consent does not apply to genetic information that solely presents a threat to an unborn child, but that it does apply if there is a psychosocial risk to a pregnant woman (New South Wales Health, 2014, p. 5). Only 19/37 participants were aware that the guidelines are relevant in the public and private sector. Imminence of a "threat to the life, health and safety" of a genetic relative is not a requirement for disclosure without consent (guideline 1), however, only 14/37 correctly recalled this. Further, only 10/37 participants were aware that while the guidelines facilitate disclosure without consent, there is no legal obligation to use or disclose a client's genetic information to lessen or prevent a serious threat to genetic relatives (that is, no duty to warn and override the duty of confidentiality) (NSW Health, 2014, p. 5). Lastly, only 9/37 participants were certain that disclosure should avoid conveying that there was no consent for disclosure (guideline 7).

The majority of participants (28/37) were aware that the authorising health professional in the process of disclosure without consent must be a medical practitioner who assumes a significant role in the care of the client (guideline 4). In addition, 24/37 participants were aware that discussions with other health professionals with appropriate expertise are required during the process of deciding whether disclosure without consent is appropriate (guideline 5). However, only 17/37 were aware that the authorising medical practitioner is able to identify other appropriately trained professionals such as genetic counsellors to assume the role of disclosure (NSW Health, 2014, p. 25: Table 3).

Clinical application of the guidelines

In comparison to theoretical knowledge, only 18/37 were considered to have "good" knowledge of the clinical application of the Guidelines, scoring above the mean of 3.77 + 1.6 (SD) for the eight questions related to the four clinical scenarios summarised in Table 1.

Scenario one (Q11A, 11B)

Genetic risk with implications to genetic relatives - identification of a BRCA1 mutation potentially presenting a threat to a current first-degree relative

Most participants (24/35) correctly identified that disclosure without consent of an increased genetic risk, would be in accordance with the NSW Privacy Legislation (2012) and Health Privacy Guidelines, as there are measures to lessen or prevent the threat to relatives (as there is a relevant family history). Most (26/35) also recognised that disclosing information without consent, solely on the grounds that there is potential harm to relatives' future children, would not be in accordance with the Guidelines.

Scenario two (Q12A,12B)

Genetic risk for an X-linked condition with no implications to current genetic relatives but a potential threat to future genetic relatives

Where the genetic risk (i.e. X-linked haemophilia) presents no direct threat to a potential carrier, most participants (26/35) correctly identified that disclosure without consent would not be in accordance with the guidelines.

Scenarios three and four (Q13A, 13B and 14A, 14B)

Genetic risk for Fragile X or a balanced chromosome translocation with implications to current and/or future genetic relatives

If the genetic risk in question (i.e. Fragile X or balanced chromosome translocation), presents a threat to a current genetic relative such as primary ovarian insufficiency (due to Fragile X) and higher miscarriage rate (due to a balanced translocation), disclosure without consent would be in accordance with the NSW Guidelines as there are measures to lessen or prevent the threat to at-risk relatives. However, only 11/35 (Fragile X scenario) and 3/35 (balanced translocation scenario) participants correctly recognised that disclosure was appropriate. Only 13/35 (Fragile X) and 16/35 (balanced translocation) participants correctly identified that disclosure in the interest of relative's future children would not be in accordance with the Guidelines. There was no association between 'good' theoretical and 'good' applied clinical knowledge, however there was an association between 'good' applied clinical knowledge score and years in practice (χ ² = 12.21, df = 4, p  < 0.05). There was no association with any other demographic factor.

Attitudes and confidence

Only a medical practitioner can authorise disclosure without consent. However, only 5/7 practicing clinical geneticists/medical specialists correctly identified that this was their role and two were unsure. In addition, only 6/27 genetic counsellors correctly identified that they are not authorised under the Guidelines to take on the lead role of disclosure (they can assume the role if authorised by a medical practitioner); 9/27 responses were incorrect, 14/27 participants were unsure. While 19/35 reported feeling confident in their knowledge to properly manage the process of non-disclosure without consent, there was no association between confidence and 'good' theoretical knowledge or 'good' applied clinical knowledge. However, 31/35 expressed interest in further education and training on managing the process of disclosure without consent.

Experience with active non-disclosure

In total, 24/32 participants thought they would encounter 1-3 cases of active non-disclosure over the next 12-months. Thirteen participants (6 certified genetic counsellors; 3 associate genetic counsellors /social worker, and four clinical geneticists/medical specialists; 8 with > 10 years-experience), provided comments on a particular case or generic comments on examples of non-disclosure seen. Overall, participants highlighted four main points about active non-disclosure: (1) it does not occur frequently, (2) health professionals often have no way of knowing whether a client has disclosed genetic information to at-risk relatives, (3) health professionals will rarely have relatives' contact information, and (4) most cases of active non-disclosure resolve with time and discussion, or via an affected relative. For example:

"The above are the only two cases of active non-disclosure that I have encountered (that patients have admitted to me) in 20 years in genetics. In both instances, there was no way for me to contact the at-risk relative. This is by far the most likely scenario." (P2, CG).

Of the 7 case examples provided (Table 4), the most common examples of active non-disclosure involved parents who did not communicate their results to a minor, or adult children ( n = 3). Reasons included to protect a minor, or the proband did not want to worry young adults. There were also probands reported ( n  = 4) who did not want to disclose their child's or their own genetic status results to at risk relatives (including siblings and cousins). Reasons included: the proband did not want to disclose their child had a condition; it was seen as the proband's own business; the proband felt their relative(s) would not share genetic information with them, or estrangement. Although 2/7 of these self-reported cases remained unresolved, and 1/7 was only resolved after a relative became pregnant, others resolved when other affected relatives were identified, or a genetics health professional supported the client in writing their own family letter.

"... over the course of a few contacts with the patient, I challenged [X's] beliefs and we worked together to write a letter that could be distributed to the family anonymously." (P10, GC).

A number of participants gave an overview of reasons for active non-disclosure that had been reported to them. These included parents refusing to tell their children to protect them; treatment fatigue; dealing with a diagnosis/prognosis; being overwhelmed; and not understanding the result and implications for relatives of a cancer diagnosis. One example of passive non-disclosure was also provided where the proband wanted to wait until they themselves were ready to disclose.

Views on the guidelines

A few participants provided feedback: 1). The guidelines do not consider the future harm to a parent of birth of a child with a genetic condition. 2). There is no guideline regarding disclosure to a non-biological relative who may nevertheless be a relevant individual, for example pregnant women. 3). Those who engage in non-disclosure are unlikely to provide contact details for relatives. 4). Maybe it is sufficient to know that the guidelines and legislation exist, and one can easily access that information as and when required.

".....There's not much point in me memorising the details of legislation which may well have changed by the time I need to use it (if ever). It's enough for me to know that rules exist and to have the intention that if the situation ever arises, I will find out what they are, and apply them." (P45, CG).

Discussion

The majority of NSW GHPs who participated in the study demonstrated 'good' theoretical knowledge of content of the NSW Health Privacy legislation and Guidelines [ 15]. This was associated with having previously read the guidelines. However, 'good' knowledge of how the guidelines apply clinically was only associated with the number of years in practice. Nevertheless, results suggest that many GHPs lacked understanding of the scope and clinical application of guidelines regarding disclosure of genetic information without consent in NSW, especially in circumstances of a less direct threat, or disclosing genetic risks presenting threats to an unborn child. Therefore, it is not surprising that half of the participants did not feel confident in their knowledge to manage the process of disclosure without consent and were uncertain of their professional responsibility.

Research conducted by Clarke et al. (2005) suggest that active non-disclosure is uncommon [ 1]. Communication barriers within a family are commonly addressed during consultations, where healthcare professionals support probands to promote adequate dissemination of genetic information. While participants in the study reported here described previous experiences with potentially active non-disclosure, they indicated that many instances are able to be resolved with discussion and time, although a few cases remained unresolved, even after follow-up. Several clinical geneticists/medical specialists were unsure if it was their role to take on professional responsibility for disclosing without consent, and a third of genetic counsellors incorrectly believed they had a professional responsibility and they had the appropriate authority. Further clarification and education about this process would therefore be beneficial.

Traditionally, GHPs have been trained to follow an individual rather than a familial approach to disclosure, in which they provide clients with information and support that allow each individual to make their own independent choices [ 2, 6]. When faced with a client who actively refuses to disclose information to at-risk relatives, it has been reported that professionals are more likely to prioritise perceived client autonomy over the responsibility to family members [ 10]. Strategies recommended by participants in this study included use of a communication tool to identify cases of active or passive non-disclosure that would benefit follow up. Other online resources to facilitate communication have been recommended and supported by governing legislation in some countries such as France [ 19, 25, 26].

Practice implications

Technological advances, expanding knowledge and mainstreaming in genetics are likely to raise more ethical and professional challenges for all health professionals. It is therefore vital that health professionals continue to carefully consider proband's interests but also recognise that in genetics there may also be responsibilities to relatives too - depending on circumstances. The increasing need to balance the dual duties to maintain the confidentiality of the patient and limit the harms to at-risk genetic relatives brings in to focus both legal and ethical issues and cases such ABC vs St George may inform health professionals' ongoing legal responsibilities [ 13, 20, 22, 23]. Therefore, the data presented in this study should be regarded as a first step in identifying potential areas of importance to highlight for GHPs (or other health professionals engaging in the provision of genetic information) regarding current privacy law and guidelines informing clinical practice, and how best to promote future changes so as to increase health professionals' theoretical and practical knowledge. The study also highlights the level of complexity regarding this issue and the need for further clarification around legal obligations and permissions of healthcare professionals (guidelines 1, 4, 5), when there is a threat to an unborn child(ren) (guideline 7) and disclosure process (guideline 8). Healthcare professionals could benefit from further education and support to facilitate clinical application of guidelines when dealing with non-disclosure in practice. Given the differences in Federal and State \Territory legislation and guidelines in Australia, an Australia-wide approach is likely to be more effective; with training through national websites, webinars, conferences, seminars, and more interactive sessions [ 14].

Research recommendations

Primary healthcare professionals and medical specialists are the gatekeepers between clients and genetic services. As genetics is progressively implemented into clinical practice (including non-genetics specialities), it is likely that a wider range of health professionals will be ordering genetic tests and providing genetic counselling. Future studies should explore the experiences and skills of non-genetic health professionals in dealing with potential conflicts between client confidentiality and responsibilities to genetic relatives. It will be extremely important to involve these professionals in future research, as educational tools and comprehensive guidelines, stating their responsibilities and limitations, will need to be targeted to their specific needs and practice.

Study limitations

While it is estimated that there are 153 practicing genetic counsellors/clinical geneticists/medical specialists listed as NGCN, AACG and/or HGSA members working in NSW, it is difficult to determine the exact response rate. We were unable to monitor the number who received an e-mail invitation for the survey or were aware of the survey through promotion at the conferences, and how many opted not to participate.

Conclusions

There are ongoing ethical and legal debates as to whether healthcare professionals have a responsibility to genetic relatives to disclose genetic information when there is a serious risk. When a proband fails to disseminate genetic information to at-risk relatives, healthcare professionals must balance the client's interests (i.e. privacy and autonomy) against genetic relatives' putative right to know. In this small Australian study, many professionals were aware and understood various aspects of the relevant legal Guidelines, however, there was uncertainty of the scope and clinical application of the current legislative and regulatory framework. The Australian health system is a mix of both private practice and government (public) services engendering complexity in the regulatory framework which may have added to the uncertainty and which may not be present in countries with a health service that is largely public. Nevertheless, these findings suggest that if legislation for disclosure to genetic relatives without consent is introduced, there is a need for education to increase awareness and support genetic health professionals in the application of the underpinning guidelines within their healthcare system. Additionally, effective education and training strategies are likely to be relevant for introduction of further legislation and guidelines in the future, especially around interpretation of nuanced exceptions and professional responsibility for implementation of recommendations in the clinic.

Availability of data and materials

All de-identifed interview transcripts are digitally stored and stored by the University of Sydney's archive system. Professor Barlow-Stewart takes responsibility for the data to be made available.

Abbreviations

AACG:

NSW branch of the Australasian Association of Clinical Geneticists

CG:

Clinical genetics specialists

GC:

Genetic counsellors

GHPs:

Genetic health professionals

HGSA:

NSW branch of the Human Genetics Society of Australasia

NGCN:

NSW Genetic Counsellors' Network

NSW:

New South Wales

Acknowledgements

The authors would like to thank the health professionals who have participated in this research and The University of Sydney and the Centre for Genetics Education for their support.

Funding

Not applicable. This research was conducted in partial fulfillment of The University of Sydney's Master of Genetic Counseling degree.

Author information

Affiliations

1. The University of Sydney, Northern Clinical School, Faculty of Medicine and Health, Level 7, Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW, Australia

Natalia Meggiolaro, Kristine Barlow-Stewart & Jane Fleming

2. Centre for Genetics Education, NSW Health, Sydney, NSW, Australia

Kate Dunlop

3. The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, NSW, Australia

Ainsley J. Newson

Contributions

KB-S, KD and JF contributed to the study design, data collection, analyses and writing of the manuscript and all revisions. NM contributed to the data collection, analyses and writing of the manuscript and all revisions. AJN contributed to the study design, analyses and writing of the manuscript and all revisions. All Authors have read and approved the final manuscript and all revisions.

Corresponding author

Correspondence to Kristine Barlow-Stewart.

Ethics declarations

Ethics approval and consent to participate

This study was approved by the Human Research Committee at the University of Sydney (project number: 2016/022). All participants provided written consent (see Additional file 1).

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

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Meggiolaro, N., Barlow-Stewart, K., Dunlop, K. et al. Disclosure to genetic relatives without consent - Australian genetic professionals' awareness of the health privacy law. BMC Med Ethics 21, 13 (2020). https://doi.org/10.1186/s12910-020-0451-1
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Keywords

Privacy

Genetic information

Disclosure without consent

Genetic counseling

Duty to warn

Genetic testing

Confidentiality

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Disclosure to genetic relatives without consent - Australian genetic professionals' awareness of the health privacy law - BMC Medical Ethics

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Background When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively.

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- it is usually the proband’s or another responsible family member’s role to disclose the information to at-risk relatives
-  research indicates that even when an individual recognises his or her responsibility to convey pertinent genetic information to relatives, the communication process is not always straightforward

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"...with the exception of identical twins, each persons DNA sequence is unique, which means a DNA sample can never be truly anonymized."

"...research participants can be re-identified using genomic data..."

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-  The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband
- ethical obligation to prevent harm to at-risk relatives
- the first person in a family in whom the genetic nutation is identified

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genetically at-risk relatives may be deprived of the chance to make informed choices about whether to seek genetic testing and take action in light of results

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- While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure.

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Empirical studies show that people who are informed and in control who their information is shared with, they are eager to participate in research studies.

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Abstract

Introduction

In this retrospective, we have taken on the unenviable task of tracing the debates surrounding genetic privacy over the past 30 years or so. The task would surely be simpler if there were agreement about what this topic-privacy-is even about. Described as 'exasperatingly vague and evanescent', privacy frequently alludes precision, even with the best efforts ( 1). Its definition draws from the culture in which it emerges, with dignity and personhood founding many European conceptions and liberty-freedom from interference-founding many North American conceptions ( 2). More recently, articulating a conception of privacy from indigenous perspectives has also been the subject of increased interest ( 3, 4). With privacy frequently rearing its head and posing challenges for the human genomics community, the implications of different conceptions have real-world consequences on the ability to successfully complete research projects and to translate scientific knowledge into the clinic.

We will not, and indeed cannot, detail the myriad nuances of the field, and are even less able to 'solve' the privacy issues genomics and its applications bring about. That is a Sisyphean task for another decade and for other authors. What we will do is present the leading privacy debates in genetic privacy over the past three decades. Our contention is that each decade's debates had its own metaphors to assist in understanding genomics and then in regulating the activities where genetic privacy was implicated. Although both authors are former students of literature, the use of metaphor within law and ethics, across time periods and traditions, is so essential to the disciplines that it is difficult to conceive of law or ethics without it ( 5). No decade ever started with a clean slate; certain metaphors, certain conceptions were buried only to emerge again.

Before embarking, it is best to define what we understand genetic privacy to be. Genetic privacy is, at its core, an interest that individuals, families, or even communities have with respect to genetic information. These interests also ground claims with associated rights and obligations of ownership, of control, of exclusion, of non-interference, of protection, etc. We take an interest-based approach as it can encompass the breadth of the debates in the field over the past 30 years Genetic privacy may implicate an entire cast of actors-probands, their families, sequencing laboratories, researchers, clinicians, health system administrators, insurance companies and even public health agencies. The tricky issue for law and ethics is to determine which interests or claims should be recognized and reconciled among themselves. Central issues include: Do we give probands the sole prerogative to decide what happens with 'their' genetic information? Or do their families, or even communities, have a say? The metaphor used may give clues as to the intended outcome, a form of path dependency.

Ownership and 'Humanity' (1990-2000)

The launch of the Human Genome Project in 1990 was a catalyst for increased attention and thinking about the ethical and legal consequences of genomics. It was clear that genetic data would play an increased role in the biosciences and within society more broadly. One scholar, for example, posed a portentous question-will genetic information 'impel us to take privacy much more seriously in the genetic realm ... or lead us to give up on maintaining personal privacy altogether' ( 6)? In a way, the privacy concerns regarding genetic data presaged our contemporary debates about the intersection of privacy, surveillance and infrastructures. It was not only that genetic data were novel in the abstract. They also gave rise to new forms of infrastructures such as sequence maps, genetic databases and then biobanks.

There was early recognition that genetic data were different from other kinds of medical data ( 6-8). The data are probabilistic, they have implications for blood relatives, they escape our 'full' understanding (and continue to do so), etc. Indeed, a stumbling block during this time was getting the science right-many commentators suffered from a poor understanding of genetics. A common misstep was to overestimate, with seemingly unbridled enthusiasm (or profound dread) the ability of genetic data to unlock the presumed totality of our biological and social existence ( 9). Through this lens of genetic exceptionalism, the secrecy and seclusion of data were emphasized. Even secrecy from oneself, in the form of the 'right not to know', was recognized ( 10, 11). Often there was a dichotomy between large-scale sequencing and privacy, which commentators used to argue that it was impossible to maintain privacy when so much data would be generated about individuals. ( 8).

More modestly, were genetic data 'an individual's probabilistic future diary' ( 6)? Or perhaps they were one's property? The State of Florida thought so-the legislature decided that genetic data were 'the exclusive property of the person tested.' ( 12) The property approach stresses the right to exclude others from and control over an object, allowing for its sale and exchange. From this perspective, the proband could claim control over the uses of their genetic data, and even have a commercial interest in their tissues and data ( 13). The decisional power in this regard was almost universally located in the proband, with some tailored exceptions, e.g. for determinations as to paternity ( 7, 14). The genetic property approach managed to somewhat flourish despite recognition in both common law and civil law jurisdictions that parts of the human body were not property ( 15, 16).

The property approach was just one of an array of approaches. By 1995, and before the enactment of the USA's Health Insurance Portability and Accountability Act of 1996, at least eight states had legally recognized a genetic privacy interest ( 8). Fifteen had enacted laws curtailing the use of genetic data for insurance purposes ( 17). Comparatively, less specificity was afforded to genetic data in Europe. This was not because privacy was not taken seriously. To the contrary, a comprehensive privacy law that applied to personal data held by public and private entities alike, the Data Protection Directive, the predecessor of the General Data Protection Regulation, included genetic data in its ambit through regulating personal health data ( 18). Although, other normative instruments in Europe also aimed to ensure that genetic data were only collected and used for bonafide clinical and research purposes ( 10, 19).

Irrespective, the human genome at the species level received another legal qualification. As early as 1991, it was argued that the human genome per se was beyond the control of any single individual, corporation or government-it was the common heritage of humanity ( 20). There was no right to exclude others from knowledge of the human genome. In this vein, the 1996 Bermuda Principles did much to foster a culture of sharing and openness of data, which likely would have otherwise crumbled under the weight of the contemporaneous patent wars over human genes ( 21, 22). The year 1997 saw the issuance of UNESCO's Universal Declaration on the Human Genome and Human Rights, which declared the human genome to symbolically be the heritage of humanity ( 11).

Citizenship and 'Public Goods' (2000-2010)

Population biobanks, which store biosamples and data of large numbers of individuals for future, unspecified research, were established in Estonia ( 26), Canada ( 27, 28), Japan ( 29), the UK ( 30) and elsewhere. These large repositories were conceived of as longitudinal resources for future research and managed in the common interest. These projects posed complications for genetic privacy and the consent-laden property approach. To continue with the property metaphor, individual consent makes sense for managing one's own objects or patrimony, as it is known in the civil law tradition. But global public goods, as human genomic databases were intended to be ( 31), require governance beyond the level of the individual.

Yet, it became apparent that unanchoring genetics from the individual would not be possible. In 2003, the Supreme Court of Iceland recognized a claimant's privacy interest in her deceased father's medical data, challenging the presumed consent introduced by the country's Health Sector Database Act, and presaging the relational accounts of privacy to come ( 32). Despite the creative legal fiction of presumed consent en masse, some form of meaningful consent remained indispensable for research infrastructures ( 33).

Reconciling an ethos of the public good with individual autonomy and privacy was not easy. Trenchant debates, in particular around broad consent, ( 37-39) left an indelible mark on genetic privacy that still influences us today. These debates were able to evade an epistemic knot through explicitly focusing on the governance of the infrastructures in which genetic privacy interests were located. Biobanking guidelines emphasized transparency, integrity of purpose, justification for the use of personal data, ongoing ethics governance, prohibitions on discrimination and other such safeguards ( 40). These mechanisms provided an alternative way of attending to the presumed dangers of broad consent to future research.

Relationships and 'Genetic Data' (2010-2020)

Faced with scandals such as the Snowden revelations ( 44, 45) and Cambridge Analytica ( 46), the public's concerns about privacy have increased ( 47, 48). Developments such as the Schrems I ( 49) and Schrems II ( 50) decisions-direct consequences of the Snowden revelations-have rendered data sharing outside of Europe markedly more difficult ( 51, 52). Yet, the complexity of the science, ethics and law has done little to stifle ambitions. In this decade, the Global Alliance for Genomics and Health (GA4GH) ( 53), International Rare Diseases Research Consortium ( 54) and the International Cancer Genome Consortium's Accelerating Research in Genomic Oncology ( 55) were launched, with more participants and jurisdictions involved than what seemed possible in the past. In the face of such developments, genetic privacy has taken a relational turn.

In keeping with the complex changes brought about by network societies, direct-to-consumer (DTC) genetic testing brought about its own major shift in context-genetics was taken from the lab to the home. Genetic data became yet another medium through which relationships were expressed. Individuals' genetic privacy fell into their own hands and challenged the largely paternalistic lens of biomedical ethics ( 56). With DTC sequencing and interpretation services, it has been noted that new kinds of regulation are needed to ensure adequate privacy protection but also to ensure safety and quality of such services ( 57).

The advent of big data has seen individuals constructed into groups of which they are unaware, much less self-identify ( 64). Consider polygenic risk scores. With an increasingly strong evidence base, they are enabling new ways of stratifying the population into tiers of risk for certain diseases, e.g. breast cancer ( 65). Individuals may be wholly unaware of their risk group but nevertheless affected by the use of another individual's data in the same subpopulation ( 66). Ensuring the proper use of data with group implications challenges the individualistic approach of privacy law. A shift in thinking that focuses on obligations instead of rights is a start ( 66). As the openness of data is increasingly emphasized, more debate is required on the proper balance between individuals, groups and society and on the best way to maintain public trust.

Obligations may indeed be better suited to issues such as familial interests in genetic information-the proband has independent privacy rights but also, in certain circumstances, the responsibility to consult with relevant family members. Although ethics has little issue recognizing such obligations ( 67), the law has proven slow to give up on its image of the fully autonomous person. Nevertheless, relational approaches to genetic privacy have found explicit recognition in England and Wales. There, the High Court recognized that clinicians have a legal duty to consider the interests of their patient's genetic relatives in deciding whether to disclose health information that could reduce or prevent a serious risk of harm from materializing ( 68). More simply, the individual is not the only person with an interest in 'their' genetic data, a proposition that science and ethics had recognized decades ago. Time will tell whether other jurisdictions follow the relational lead.

Conclusion

Our study of genetic privacy spanning the last 30 years reveals approaches that are neither strictly chronological nor static. With more facets of social life rooted in information flows, privacy, genetic or otherwise, finds itself interacting with other incommensurables. Indeed, the progressive realization of human rights, such as the human right to science, hinge upon the sharing of data ( 69). Societies and individuals have choices to make. The recent advent of whole genome sequencing has further placed the individual into a context of choice-what to share, what to control and what to contribute to research and international, collaborative efforts. What has changed however and will continue to do so is the image of genetics as limited to rare diseases and running in fated families and with a strictly personal and private character.

Today, when digitized and presented as subpopulations, as polygenic risk scores in common diseases, as predisposition, susceptibility or resistance to risk, or, as epigenetic lifestyle risks, the question becomes less one of individual genetic privacy than one of groups and relationships that demonstrate genomic equivalence in difference. As genetic testing becomes commonplace, formerly 'private' genetic information will be shared as any other type of health information in the clinical care of patients and their families. The success of precision medicine hinges on facilitating contributions to the healthcare system to promote the validation and interpretation of the health implications of individual variants. Such a systemic approach to ownership, citizenship and relationships must promote the right of everyone to benefit. In short, the future genetic self is necessarily linked to others. The unique and private genetic 'me' is discovered through the study and comprehension of the human 'us'. Conflict of Interest statement. None declared.

Funding

This work was supported by the Canada Research Chair in Law and Medicine, as well as Genome Canada, Genome Quebec, and the Canadian Institutes of Health Research (SBD-163124).

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# data[].attributes.attachment_link.title
Three decades of genetic privacy: a metaphoric journey

# data[].attributes.attachment_link.description
In this retrospective, we have taken on the unenviable task of tracing the debates surrounding genetic privacy over the past 30 years or so. The task would surely be simpler if there were agreement about what this topic-privacy-is even about. Described as 'exasperatingly vague and evanescent', privacy frequently alludes precision, even with the best efforts ( 1).

# data[].attributes.body
Genetic data is exclusively the property of the person being tested, excluding others to control, sell, and exchange the data.

# data[].attributes.body
By the use of genomic data and scientific discovery, infuses scientific citizenship.

Biobanks which store biosamples and data of individuals poses complications for privacy.

Human genomic databases intend to require governance beyond the individual.

# data[].attributes.body
If people have control over their genetic data, they can have commercial interest in their tissue and data.

The unique and private 'me' is learned through study and comprehension of 'us'. Although taking the approach to ownership, citizenship and relationship is essential. We are linked to other and to learn about ourselves and our future decedents we must share genetic information to an extent.

# data[].attributes.body
"Biobanking guidelines emphasized transparency, integrity of purpose, justification for the use of personal data, ongoing ethics governance, prohibitions on discrimination and other such safeguards (40). These mechanisms provided an alternative way of attending to the presumed dangers of broad consent to future research."

"The recent advent of whole genome sequencing has further placed the individual into a context of choice—what to share, what to control and what to contribute to research and international, collaborative efforts."

# data[].attributes.body
Our study of genetic privacy spanning the last 30 years reveals approaches that are neither strictly chronological nor static.

# data[].attributes.body
- Since genetic traits run in families, they usually significantly impair the everyday life of many (if not all) family members
-  data require increased security appropriate for sensitive personal data
- bring the danger of their confidentiality being breached relatively easily

# data[].attributes.body
Journal Article

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- These problems arise in the realm of social, ethical, religious and legal issues, and cover such issues as testing children for adult-onset disorders
- They also cause discrimination and social stigma; the insight into future health status they provide causes a sense of insecurity affecting any aspect of life
- disclosure of relevant information to a third party might play an important role in warning other members of the family about serious pathological consequences still to emerge

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- the information contained in the human genome is increasing
- It has been shown that even small pieces of genetic information combined with publically available information, like surnames or parts of a postal address, make genomic research potentially identifiable

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"disclosure of pre-symptomatic genetic test results may assure the improbability of disease symptoms developing in persons with a 0 % genetic risk"

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Didn't have any

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Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider - Genetics in Medicine

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Genetics in Medicine - <ArticleTitle Language="En" xml:lang="en">Confidentiality, privacy, and security of genetic and genomic test information in...

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In the future the higher volumes of the genome sequences and databases will require additional protection due to data mining
-it is possible that one inconsequential sequence with attached identity could be used to link identity to genetic information that the individual does not wish to disclose.

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-the genetic test results information being revealed, shows other members of a family what diseases or conditions they might inherit
-test results releases what mutations and alleles were traced and passed down from generation to generation to generation.  This is a game changer because knowing these disease before they flare up can help minimize the symptoms of the disorder or illness and start a person on early treatment plans

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There are certain principles that would enable privacy of information through diagnostic care and preventions to diseases. Also, the U.S. would come up with a infrastructure for healthcare data that would support genetic tracings for diseases that could be hereditary.

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"Genetic/genomic test information exhibits several characteristics that should be considered when determining the appropriate level of protection.For example, low-density lipoprotein cholesterol level is predictive, and gender is generally considered immutable. However, these characteristics are relevant to consider holistically when determining appropriate protection of genetic/genomic test information."

"Some genetic/genomic tests can predict the likelihood of developing a given disease or the response to a specific drug."

"As such, public disclosure of personal genetic/genomic test information could create long-lasting and unpredictable effects, given unforeseen technological and interpretive advances."

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There are no statistics or numbers.

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The Common Rule provides protection for patients involved in research.

Genomic Data Sharing Policy (GDS) promotes sharing data whilst maintaining privacy.

Certificate of Confidentiality helps serves for the ability to limit reidentifying people based on the involved in research through their genomic data.

Genetic Information Nondiscrimination Act (GINA) is a law the prohibits discrimination in work and health insurance based on genetic information.

Law enforcement officers are not allowed data protected with a certificate of confidentiality.

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Reidentification can breach confidentiality of a patients genetic data.

individual informed consent will be challenged as family members can be found based on ones DNA.

Certificate of Confidentiality serves a great purpose although protections are only effective  when one abides by them knowing the consequences.

Its argued that GINA fails to protect individuals because test can be requested.

Individuals can be reidentfied through minimal genetic information through public data.

There are no clear regulations on nongovernmental databases.

Access to genetic data can allow insurers to avoid adverse selection.

Genetic test may result in genetic discrimination.

HIPPA requirements can be trumped by a defined court order for discolsure.

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Genomic discoveries can lead to new medicines and drugs.

The opposite of GINA can be found in the criminal justice system.

Genome sequencing may be able to identify rare gene variants that may cause disease can be identified in  certain ethnic population.

Kinship can identify beyond direct relatives ad can help U.S crime enforcement search for people who've committed crimes yet to be in their own system.

Family based consent is not realistic and can result in no cooperation based on individual opinions.

To address the confidentiality situation, should be discussed of banning reidentification, expanding laws like GINA, and other fixes to secure individuals privacy.

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"Once genetic information is separated from individual protected health information, it is considered deidentfied and not subject to HIPPA."

"...existing laws seeking to protect the privacy of genetic information do not address the possibility of reidentification of genetic data that were rendered "anonymous" by traditional deidentification practices."

"...individuals who donate their whole genome  data are sharing more than their own genetic code; they are indirectly sharing a portion of their biological relatives.

"...individuals DNA profile in a database accessible by law enforcement may increase the risk of criminal investigation and possible persecution for not only the contributor of the profile but also any related family members."

"...relinquished any privacy protections. ...law enforcement [doesn't] need a warrant or court order to view and use the DNA samples to do familial search."

"An individual can consent to having their data fully in the public domain, but this also exposes nonparticipating biological relatives that may not have consented  or may be unaware of this public disclosure."

"...public databases may be examined by health insurers, law enforcement, and national or international security agencies."

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In the past 20 years there's been an increase of gathering individuals genetic information through military, law enforcement, and security without consent.

Theres over millions of genomic data sets in government databases which covers 10% of households in the U.S. and are expected to increase drastically in the next 5 years.

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Genetic testing can detect genetic mutations that increases the likelihood of a patient developing a disease.

Keeping a record of a family's genetic information can help lower the risk of future generations from developing that disease.

A glimpse at family history may help determine what kind of treatment a patient may need.

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There are a few reasons why people may be against the idea of sharing information regarding the familial history of a patient.

Genetic information derived from an individual is uniquely identifying which violates that person's confidentiality.

Some patients simply don't want their test results to be used in the care of others, failing to comply with this patients wish would mean to violate their autonomy.

Public awareness of such uses of genetic information may impact the relationship between a patient and a health professional.

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Knowing the familial history of a patient could help better determine what medication or other medical interventions they may need.

Sharing this information can also help identify and treat inherited diseases that could be harmful for the patient.

An early identification of an inherited disease could help medical workers prevent them from progressing.

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There are policies in place that keep healthcare professionals from sharing an individual's health information, whether an individual may be related to the patient or not. Without explicit consent a healthcare professional cannot reveal that information.

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Not wanting others to benefit from important health information is wrong

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Depending on the type of disease, for example, hypercholesterolamia is benefical when knowing genetic status since the information would help to prevent or minimize a disease that is unnecessary.

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-People believe that if the genetic information is being used for clinical research uses then it is necessary to pass around the info between only professionals.
-families being at risk of genetic disease where there is possible to avoid harm, there should be a release of private genetic information to the family which would override the wishes of the patient getting genetically tested

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The genetic information allows the researcher to make guess on who the relatives are of the patient and to come up with cures.

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"In respect of the clinical uses of personal medical
information, the assumption seems to be that clinicians will
and should talk to one another and that relevant information
ought to be passed around between professionals who share
an agreed code of conduct."

"Indeed, for the research to be successful it may be essential that you are able to go back to the families and this indeed is likely to be what they would want, for it is only through the promotion of research that they will gain understanding of the situation in which they find themselves and eventually can have hope of making progress towards a cure."

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In some countries like the UK, they disclose their patient's genetic information if it is going to benefit other individuals and if the patient wishes are outweighed by the public.

Its relevant for Health care providers to share information when there's family members that are at-risk.