Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study.

BACKGROUND: The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public. OBJECTIVE: This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services. METHODS: We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance. RESULTS: Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information. CONCLUSIONS: Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.

Assessing Privacy Vulnerabilities in Genetic Data Sets: Scoping Review.

BACKGROUND: Genetic data are widely considered inherently identifiable. However, genetic data sets come in many shapes and sizes, and the feasibility of privacy attacks depends on their specific content. Assessing the reidentification risk of genetic data is complex, yet there is a lack of guidelines or recommendations that support data processors in performing such an evaluation. OBJECTIVE: This study aims to gain a comprehensive understanding of the privacy vulnerabilities of genetic data and create a summary that can guide data processors in assessing the privacy risk of genetic data sets. METHODS: We conducted a 2-step search, in which we first identified 21 reviews published between 2017 and 2023 on the topic of genomic privacy and then analyzed all references cited in the reviews (n=1645) to identify 42 unique original research studies that demonstrate a privacy attack on genetic data. We then evaluated the type and components of genetic data exploited for these attacks as well as the effort and resources needed for their implementation and their probability of success. RESULTS: From our literature review, we derived 9 nonmutually exclusive features of genetic data that are both inherent to any genetic data set and informative about privacy risk: biological modality, experimental assay, data format or level of processing, germline versus somatic variation content, content of single nucleotide polymorphisms, short tandem repeats, aggregated sample measures, structural variants, and rare single nucleotide variants. CONCLUSIONS: On the basis of our literature review, the evaluation of these 9 features covers the great majority of privacy-critical aspects of genetic data and thus provides a foundation and guidance for assessing genetic data risk.

Defining Genetic Privacy in the Context of Sports Genetic Testing in athletes / Definición de privacidad genética en el contexto de las pruebas genéticas deportivas en deportistas

The safeguarding of genetic information is essential, particularly within the domain of sports genetics testing. This research delves into the nuanced definition of genetic privacy under the backdrop of genetic testing in sports. While many scholars regard genetic information as an inherent component of the right to privacy, it is crucial to recognize that not all genetic information falls squarely within the realm of privacy. Due to the distinctive nature of genetic data, only specific segments can be considered under the umbrella of privacy rights. Additionally, genetic information that pertains to family or group dynamics transcends the boundaries of individual privacy rights. In cases where genetic information is shared among multiple parties, the owners do not possess unilateral control over these shared genetic segments. As a novel facet of privacy rights, gene privacy introduces unique dimensions that differ from conventional privacy rights. It encompasses the fifth right—the right not to know specific genetic information. To establish a robust framework for judicial protection of genetic privacy, it is imperative to undertake comprehensive research on the right to genetic information privacy. Such research forms the bedrock upon which a scientifically informed path to judicial protection of genetic privacy in the sports context can be developed.(AU)

Genetic research and the collective good: participants as leaders to reconcile individual and public interests.

This paper problematises the notions of public or common good as weighed against individual sovereignty in the context of medical research by focusing on genetic research. We propose the notion of collective good as the good of the particular collective in which the research was conducted. We conducted documentary and interview-based research with participant representatives and research leaders concerned with participant involvement in leading genetic research projects and around two recent genetic data controversies: the case of the UK Wellcome Sanger Institute, accused of planning unauthorised commercialisation of African DNA samples, and the case of the company Genuity Science, which planned genetic research on brain tumour samples in Ireland with no explicit patient consent. We advocate for greater specificity in circumscribing the collective to which genetic research relates and for greater efforts in including representatives of this collective as research coleaders in order to enable a more inclusive framing of the good arising from such research. Such community-based participant cogovernance and coleadership in genetic research is vital especially when minorities or vulnerable groups are involved, and it centrally requires community capacity building to help collectives articulate their own notions of the collective good.

Ethics of 'Counting Me In': framing the implications of direct-to-patient genomics research.

Count Me In (CMI) was launched in 2015 as a patient-driven research initiative aimed at accelerating the study of cancer genomics through direct participant engagement, electronic consent and open-access data sharing. It is an example of a large-scale direct-to-patient (DTP) research project which has since enrolled thousands of individuals. Within the broad scope of 'citizen science', DTP genomics research is defined here as a specific form of 'top-down' research endeavour developed and overseen by institutions within the traditional human subjects research context; in novel ways, it engages and recruits patients with defined diseases, consents them for medical information and biospecimens sharing, and stores and disseminates genomic information. Importantly, these projects simultaneously aim to empower participants in the research process while increasing sample size, particularly in rare disease states. Using CMI as a case study, this paper discusses how DTP genomics research raises new questions in the context of traditional human subjects research ethics, including issues surrounding participant selection, remote consent, privacy and return of results. It aims to demonstrate how current research ethics frameworks may be insufficient in this context, and that institutions, institutional review boards and investigators should be aware of these gaps and their role in ensuring the conduct of ethical, novel forms of research together with participants. Ultimately, a broader question is raised of whether the rhetoric of participatory genomics research advocates for an ethic of personal and social duty for contributing to the advancement of generalisable knowledge about health and disease.

Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks.

As biobanks become increasingly popular, access to genotypic and phenotypic data continues to increase in the form of precomputed summary statistics (PCSS). Widespread accessibility of PCSS alleviates many issues related to biobank data, including that of data privacy and confidentiality, as well as high computational costs. However, questions remain about how to maximally leverage PCSS for downstream statistical analyses. Here we present a novel method for testing the association of an arbitrary number of single nucleotide variants (SNVs) on a linear combination of phenotypes after adjusting for covariates for common multimarker tests (e.g., SKAT, SKAT-O) without access to individual patient-level data (IPD). We validate exact formulas for each method, and demonstrate their accuracy through simulation studies and an application to fatty acid phenotypic data from the Framingham Heart Study.

Recording our genes: Stakeholder views on genetic test results in networked electronic medical records.

Background: In Australia, national policy prioritises the integration of clinical genetic data with networked electronic medical records (EMRs) for enhanced coordination of care and clinical decision-making. Objective: To examine the needs, privacy expectations and concerns of patients, family members, patient advocates and clinicians in relation to the use of networked EMRs for clinical genetic information. Method: Purposive sampling was used to recruit 27 participants for a semi-structured qualitative interview, primarily over Zoom. The interviews were audio and video-recorded and externally transcribed. Interview transcripts were then coded and analysed in NVivo, using an inductive thematic approach. Results: Thematic analysis revealed diverse preferences regarding genetic information access and handling across participants, with five core themes being identified: degree of access and control; central role of genetic professionals as information gatekeepers; complexities of familial implications; external risks; and law, governance and policy; all strong themes that emerged across numerous participants. Conclusion: This project yielded unprecedented and significant insights into the views, needs and concerns of key stakeholders in Australia regarding the inclusion of health-related genetic test results in networked EMRs. Implications: These findings provide a critical reference point for much-needed law reform and policy-making around genetic test results in Australia.

From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts.

Biological samples containing DNA that is attributed to deceased relatives, can now undergo genetic testing at a reasonable cost due to revolutionary improvements in sampling, sequencing, and analytical techniques. This artifact DNA testing, or 'artDNA', includes genetic analysis of hair locks, stamps, envelopes with saliva traces or teeth. ArtDNA can reveal valuable information about a deceased relative or one's genetic background, but it also presents novel ethical dilemmas and legal uncertainties for genetic researchers and commercial testing services. In this paper, we provide an analysis of some of the unique ethical and legal risks of such testing and provide needed recommendations for practitioners of private family artDNA testing. ArtDNA testing generates ethical and legal risks regarding the privacy and autonomy of deceased individuals, the rights of living relatives over their ancestor's genetic information, and the rights of living persons to control their own genetic information. To mitigate these risks, practitioners can conduct certain preliminary testing to ascertain the identity of a DNA donor and estimate the time that has elapsed postmortem. Generally, the ethical and legal concerns will be higher when a shorter period has passed between the death of the DNA donor and the time of artifact DNA testing. Regardless, all artDNA testing present some risks, and practitioners should exercise professional judgement as necessary.

Core values of genomic citizen science: results from a qualitative interview study.

Genomic citizen science initiatives that promote public involvement in the study or manipulation of genetic information are flourishing. These initiatives are diverse and range from data donation studies, to biological experimentation conducted in home and community laboratories, to self-experimentation. Understanding the values that citizen scientists associate with their activities and communities can be useful to policy development for citizen science. Here, we report values-relevant data from qualitative interviews with 38 stakeholders in genomic citizen science. Applying a theoretical framework that describes values as transcendent beliefs about desirable end states or behaviors that can be categorized according to the motivational goals that they express and the interests they serve, we identified nine core values of genomic citizen science: altruism, autonomy, fun, inclusivity, openness, reciprocity, respect, safety, and solidarity.

Community-led risk analysis of direct-to-consumer whole-genome sequencing.

Direct-to-consumer (DTC) genetic testing is cheaper and more accessible than ever before; however, the intention to combine, reuse, and resell this genetic information as powerful data sets is generally hidden from the consumer. This financial gain is creating a competitive DTC market, reducing the price of whole-genome sequencing (WGS) to under 300 USD. Entering this transition from single-nucleotide polymorphism-based DTC testing to WGS DTC testing, individuals looking for access to their whole-genomic information face new privacy and security risks. Differences between WGS and other methods of consumer genetic tests are left unexplored by regulation, leading to the application of legal data anonymization methods on whole-genome data, and questionable consent methods. Large representative genomic data sets are important for research and improve the standard of medicine and personalized care. However, these data can also be used by market players, law enforcement, and governments for surveillance, population analyses, marketing purposes, and discrimination. Here, we present a summary of the state of WGS DTC genetic testing and its current regulation, through a community-based lens to expose dual-use risks in consumer-facing biotechnologies.

Perceived fairness of direct-to-consumer genetic testing business models.

Although consumers and experts often express concerns regarding the questionable business practices of direct-to-consumer (DTC) genetic testing services (e.g., reselling of consumers' genetic data), the DTC genetic testing market keeps expanding rapidly. We employ retail fairness as our theoretical lens to address this seeming paradox and conduct a discrete choice experiment with 16 attributes to better understand consumers' fairness perceptions of DTC genetic testing business models. Our results suggest that, while consumers perceive privacy-preserving DTC genetic testing services fairer, price is the main driver for fairness perception. We contribute to research on consumer perceptions of DTC genetic testing by investigating consumer preferences of DTC genetic testing business models and respective attributes. Further, this research contributes to knowledge about disruptive business models in healthcare and retail fairness by contextualizing the concept of retail fairness in the DTC genetic testing market. We also demonstrate how to utilize discrete choice experiments to elicit perceived fairness. Supplementary Information: The online version contains supplementary material available at 10.1007/s12525-022-00571-x.

Privacy, autonomy and direct-to-consumer genetic testing: a response to Vayena.

In Vayena's article, 'direct-to-consumer (DTC) genomics on the scales of autonomy', she claims that there may be a strong autonomy-based argument for permitting DTC genomic services. In this response, I point out how the diminishment of one's genetic privacy can cause a relevant autonomy-related harm which must be balanced against the autonomy-related gains DTC services provide. By drawing on conceptual connections between privacy and the Razian conception of autonomy, I show that DTC genetic testing may decrease the range of valuable options individuals possess, which impacts the extent to which would-be consumers can exercise their autonomy.

The impact of cross-kingdom molecular forensics on genetic privacy.

Recent advances in metagenomic technology and computational prediction may inadvertently weaken an individual's reasonable expectation of privacy. Through cross-kingdom genetic and metagenomic forensics, we can already predict at least a dozen human phenotypes with varying degrees of accuracy. There is also growing potential to detect a "molecular echo" of an individual's microbiome from cells deposited on public surfaces. At present, host genetic data from somatic or germ cells provide more reliable information than microbiome samples. However, the emerging ability to infer personal details from different microscopic biological materials left behind on surfaces requires in-depth ethical and legal scrutiny. There is potential to identify and track individuals, along with new, surreptitious means of genetic discrimination. This commentary underscores the need to update legal and policy frameworks for genetic privacy with additional considerations for the information that could be acquired from microbiome-derived data. The article also aims to stimulate ubiquitous discourse to ensure the protection of genetic rights and liberties in the post-genomic era. Video abstract.

Four misconceptions about investigative genetic genealogy.

Investigative genetic genealogy (IGG) is a new technique for identifying criminal suspects that has sparked controversy. The technique involves uploading a crime scene DNA profile to one or more genetic genealogy databases with the intention of identifying a criminal offender's genetic relatives and, eventually, locating the offender within the family tree. IGG was used to identify the Golden State Killer in 2018 and it is now being used in connection with hundreds of cases in the USA. Yet, as more law enforcement agencies conduct IGG, the privacy implications of the technique have come under scrutiny. While these issues deserve careful attention, we are concerned that their discussion is, at times, based on misunderstandings related to how IGG is used in criminal investigations and how IGG departs from traditional investigative techniques. Here, we aim to clarify and sharpen the public debate by addressing four misconceptions about IGG. We begin with a detailed description of IGG as it is currently practiced: what it is and-just as important-what it is not. We then examine misunderstood or not widely known aspects of IGG that are potentially confusing efforts to have constructive discussions about its future. We conclude with recommendations intended to support the productivity of those discussions.

Pharmacogenomics at the Point of Care: A Community Pharmacy Project in British Columbia.

In this study 180 patients were consented and enrolled for pharmacogenomic testing based on current antidepressant/antipsychotic usage. Samples from patients were genotyped by PCR, MassArray, and targeted next generation sequencing. We also conducted a quantitative, frequency-based analysis of participants' perceptions using simple surveys. Pharmacogenomic information, including medication changes and altered dosing recommendations were returned to the pharmacists and used to direct patient therapy. Overwhelmingly, patients perceived pharmacists/pharmacies as an appropriate healthcare provider to deliver pharmacogenomic services. In total, 81 medication changes in 33 unique patients, representing 22% of all genotyped participants were recorded. We performed a simple drug cost analysis and found that medication adjustments and dosing changes across the entire cohort added $24.15CAD per patient per year for those that required an adjustment. Comparing different platforms, we uncovered a small number, 1.7%, of genotype discrepancies. We conclude that: (1). Pharmacists are competent providers of pharmacogenomic services. (2). The potential reduction in adverse drug responses and optimization of drug selection and dosing comes at a minimal cost to the health care system. (3). Changes in drug therapy, based on PGx tests, result in inconsequential changes in annual drug therapy cost with small cost increases just as likely as costs savings. (4). Pharmacogenomic services offered by pharmacists are ready for wide commercial implementation.