Precision medicine and Friedreich ataxia: promoting equity, beneficence, and informed consent for novel gene therapies
International Journal for Equity in Health, 8 November 2024
Faith A. A. Kwa, Evie Kendal
Open Access
Abstract
Friedreich Ataxia (FA) is an incurable neurodegenerative disease with systemic consequences affecting vital organs including those of the central and peripheral nervous systems. This article will use FA as an example to explore some of the practical and ethical issues emerging in precision medicine for rare diseases. It will first describe the existing management strategies available for FA patients, before considering the potential impact of gene therapy trials on the prevention and treatment of disease symptoms. Finally, ethical considerations will be discussed, including equity of access and managing resource allocation dilemmas; balancing benefits, burdens and harms; and gaining informed consent for novel treatments.

On the exercise of the right to withdraw consent by human genetic resources providers
Qi Su, Jing Zhang, Ping Wang`
Chinese Medical Ethics, 2024; 37(8) pp 896-902
Abstract
To fully respect the true meaning and self-determination of human genetic resources providers, the Regulation on the Administration of Human Genetic Resources gives the providers the right to withdraw unconditionally at any time, that is, the right to withdraw consent. “Withdraw unconditionally at any time” means that the providers have the right to withdraw their consent at any stage without any adverse consequences. To ensure that the right to withdraw the consent of human genetic resources providers can be realized under the rule of law, adequate information should be provided to ensure the provider’s right to know, institutional management systems and withdrawal mechanisms should be established, and ethical reviews should be strengthened, which will ultimately produce legal effects, such as providers’ termination of participation, the destruction or deletion of genetic resources and no further use.

Editor’s note: This is a Chinese language publication from Xi’an Jiaotong University.

Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer
Priyanka Kumar, David J Benjamin, Sourat Darabi, Goetz Kloecker, Arash Rezazadeh Kalebasty
World Journal of Clinical Oncology, 24 August 2024; 15(8) pp 975-981
Abstract
Recent advancements in next generation sequencing have allowed for genetic information to become more readily available in the clinical setting for those affected by cancer and by treating clinicians. Given the lack of access to geneticists, medical oncologists and other treating physicians have begun ordering and interpreting genetic tests for individuals with cancer through the process of “mainstreaming”. While this process has allowed for quicker access to genetic tests, the process of “mainstreaming” has also brought several challenges including the dissemination of variants of unknown significance results, ordering of appropriate tests, and accurate interpretation of genetic results with appropriate follow-up testing and interventions. In this editorial, we seek to explore the process of informed consent of individuals before obtaining genetic testing and offer potential solutions to optimize the informed consent process including categorization of results as well as a layered consent model.

Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found
Bartha Maria Knoppers, Ana Eliza Bonilha, Anne-Marie Laberge, Arzoo Ahmed, Ainsley J. Newson
European Journal of Human Genetics, 12 August 2024
Open Access
Abstract
In this paper, we explore key aspects of the complex ethical and legal landscape surrounding consent in the context of incorporating genomic sequencing into existing newborn bloodspot screening programs. In particular, we consider the potential impact of genomic sequencing on the health rights of the child in relation to existing consent practices in newborn screening. We begin with an introduction to newborn screening programs and their population health goals. We then discuss public health ethics as a rationale underpinning newborn screening before turning to consent. We go on to describe seven current research projects on genomic sequencing in newborn screening and then introduce the ‘right of the asymptomatic at-risk child to be found’ as a useful concept to draw on when considering consent to newborn screening. We draw on this novel right to argue for the adoption of “appropriate consent” when it comes to certain uses of genomics in newborn screening. We contend that, for ‘virtual panels’ at least, appropriate consent proportionately balances the ongoing universality of newborn screening for important health conditions with an acknowledgement of the complex outcomes that bringing a complicated diagnostic technology into the screening domain will generate.

Editor’s Note: After assessing the observations and arguments made in this paper, we are reaching out to the corresponding author for clarification.

Australian Attitudes Towards Waivers of Consent Within the Context of Genomic Data Sharing
Lyndsay Newett, Rebekah McWhirter, Lisa Eckstein, Vanessa Warren, Dianne Nicol
Journal Of Empirical Research on Human Research Ethics, 2 August 2024; 19(3) pp 113–123
Abstract
This research identifies the circumstances in which Human Research Ethics Committees (HRECs) are trusted by Australians to approve the use of genomic data – without express consent – and considers the impact of genomic data sharing settings, and respondent attributes, on public trust. Survey results (N = 3013) show some circumstances are more conducive to public trust than others, with waivers endorsed when future research is beneficial and when privacy is protected, but receiving less support in other instances. Still, results imply attitudes are influenced by more than these specific circumstances, with different data sharing settings, and participant attributes, affecting views. Ultimately, this research raises questions and concerns in relation to the criteria HRECs use when authorising waivers of consent in Australia.

Genetic Data Privacy and ‘Legitimate Interest’ in Genetic Research: Is consent still a relevant narrative within the realm of big data research under the European data protection regime?
B Bak
PhD Thesis, University of Reading, 2024
Abstract/Summary
The processing of genetic data in scientific research delivers substantial benefits, striving for better well-being and healthcare for the public. The collection of genetic data stored in research repositories or biobanks for future research use, where researchers and research subjects do not engage, has become commonplace. However, the research use of genetic data also raises controversial questions regarding data protection. Genetic data uniquely distinguishes individuals from others and provides sensitive information about them and their relatives, concerning their current and future health status. Hence, its commercial misuse, leading to unethical discriminatory practices, and the reidentification of individuals must be prevented. This study aims to strike a balance between the public’s interest in genetic research and the protection of genetic privacy, by focusing on the General Data Protection Regulation (GDPR). Specifically, it assesses the degree to which individual consent, one of the GDPR bases for justifying research and the traditional research method, can effectively establish this delicate balance. It argues that the legitimate interest ground, an alternative GDPR basis, offers certain advantages over consent and the public interest ground—another GDPR basis. Contrary to the dominant opinion, the legitimate interest basis may effectively establish an equilibrium between this public/private divergence for certain genetic research activities. This is a consequence of the shift towards big data research and contemporary dynamics in the biomedical field, and it occurs without necessarily compromising data protection principles and research ethics. The study introduces a novel perspective on genetic research, aiming to catalyse transformative changes in both legal frameworks and societal norms from a standpoint of solidarity. This unconventional approach is offered as a topic for further research.

Editor’s Note: After assessing the observations and arguments made in this paper, we are reaching out to the corresponding author for clarification.

SecureConsent: A Blockchain-Based Dynamic and Secure Consent Management for Genomic Data Sharing
Ibrahim Tariq Javed, Victoria Lemieux, Dean A. Regier
International Conference on Smart Communications and Networking, 28-30 May 2024
Abstract
The potential of precision oncology initiatives heavily relies on sharing and analyzing genomic data across diverse patient groups. However, the sensitivity of genomic data raises concerns about consent, and data control, hindering patient participation in such initiatives. Existing healthcare data-sharing methods are unable to fully address these issues, and they also do not take into account patient preferences and requirements within their models. Therefore in this paper, we introduce “SecureConsent”, a Patient-Centric consent management system designed for sharing genomic data. SecureConsent caters to patient preferences, allowing them to have control over how their genomic data is shared and used within precision oncology initiatives. It facilitates patients to make informed decisions and modify their consent at any moment through the implementation of dynamic informed consent. Moreover, it integrates a decentralized access control mechanism to establish a robust and patient-centric framework. SecureConsent also presents a user-friendly interface for simple interaction between patients and those requesting data. We conduct a performance evaluation of our blockchain-based model to establish its system efficiency, which includes analyzing gas cost, latency, and transaction throughput.

Whole genome sequencing in (recurrent) glioblastoma: challenges related to informed consent procedures and data sharing
Mira C Hasner, Mark P van Opijnen, Filip Y F de Vos, Edwin Cuppen, Marike L D Broekman
Acta neurochirurgica, 14 June 2024; 166(1)
Abstract
Increased use of whole genome sequencing (WGS) in neuro-oncology for diagnostics and research purposes necessitates a renewed conversation about informed consent procedures and governance structures for sharing personal health data. There is currently no consensus on how to obtain informed consent for WGS in this population. In this narrative review, we analyze the formats and contents of frameworks suggested in literature for WGS in oncology and assess their benefits and limitations. We discuss applicability, specific challenges, and legal context for patients with (recurrent) glioblastoma. This population is characterized by the rarity of the disease, extremely limited prognosis, and the correlation of the stage of the disease with cognitive abilities. Since this has implications for the informed consent procedure for WGS, we suggest that the content of informed consent should be tailor-made for (recurrent) glioblastoma patients.

A contextual integrity approach to genomic information: what bioethics can learn from big data ethics
Scientific Contribution
Medicine, Health Care and Philosophy, 12 June 2024
Nina F. de Groot
Open Access
Abstract
Genomic data is generated, processed and analysed at an increasingly rapid pace. This data is not limited to the medical context, but plays an important role in other contexts in society, such as commercial DNA testing, the forensic setting, archaeological research, and genetic surveillance. Genomic information also crosses the borders of these domains, e.g. forensic use of medical genetic information, insurance use of medical genomic information, or research use of commercial genomic data. This paper (1) argues that an informed consent approach for genomic information has limitations in many societal contexts, and (2) seeks to broaden the bioethical debate on genomic information by suggesting an approach that is applicable across multiple societal contexts. I argue that the contextual integrity framework, a theory rooted in information technology and big data ethics, is an effective tool to explore ethical challenges that arise from genomic information within a variety of different contexts. Rather than focusing on individual control over information, the contextual integrity approach holds that information should be shared and protected according to the norms that govern certain distinct social contexts. Several advantages of this contextual integrity approach will be discussed. The paper concludes that the contextual integrity framework helps to articulate and address a broad spectrum of ethical, social, and political factors in a variety of different societal contexts, while giving consideration to the interests of individuals, groups, and society at large.