Informed Consent in the Genomics Era

Rego, Shannon; Grove, Megan E.; Cho, Mildred K.; Ormond, Kelly E.

doi:10.1101/cshperspect.a036582

Cited by 20 publications

(14 citation statements)

References 72 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Defining informed consent for genomic testing has long been acknowledged as a challenging concept given the broad and uncertain nature of potential outcomes [36]. Evaluation of the MoC identified that most parents/guardians, recalled a discussion about genomic testing with a clinician, felt they had received enough information to make an informed decision about their child's test, and had no/minimal regret over their testing decision.…”

Section: Discussionmentioning

confidence: 99%

“…Combined, these finding highlights the challenges in discussing informed consent, particularly in paediatric mainstreaming setting where parents may be coping with stressors from their child's health condition. Future work on the MoC should consider options to improve the consent process, such as implementation of dynamic consent and patient-friendly videos and fact sheets [36,39].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

et al. 2023

View full text Add to dashboard Cite

Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management decisions and alters clinical outcomes, through early use of targeted and curative therapies. The increasing demand for genetic services has resulted in growing waitlists and delayed access to vital genomic testing. To address this issue, the Queensland Paediatric Immunology and Allergy Service, Australia, developed and evaluated a mainstreaming model of care to support point-of-care genomic testing for paediatric IEI. Key features of the model of care included a genetic counsellor embedded in the department, state-wide multidisciplinary team meetings, and variant prioritisation meetings to review whole exome sequencing (WES) data. Of the 62 children presented at the MDT, 43 proceeded to WES, of which nine (21%) received a confirmed molecular diagnosis. Changes to treatment and management were reported for all children with a positive result, including curative hematopoietic stem cell transplantation (n = 4). Four children were also referred for further investigations of variants of uncertain significance or additional testing due to ongoing suspicion of genetic cause after negative result. Demonstrating engagement with the model of care, 45% of the patients were from regional areas and on average, 14 healthcare providers attended the state-wide multidisciplinary team meetings. Parents demonstrated understanding of the implications of testing, reported minimal decisional regret post-test, and identified benefits to genomic testing. Overall, our program demonstrated the feasibility of a mainstreaming model of care for paediatric IEI, improved access to genomic testing, facilitated treatment decision-making, and was acceptable to parents and clinicians alike.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

et al. 2023

View full text Add to dashboard Cite

show abstract

“…While participants better understood the community-informed IC, the perception that study participation results in improved care at the individual level highlights the challenge of navigating the threat of coercion and the need to engage in appropriate benefit sharing when conducting research in low-resource settings. Despite the additional explanations, the use of samples to conduct genetic studies and how genetic data are then shared was not well understood, suggesting the need for building research participants’ understanding of this concept through alternative strategies that have been successful in clarifying genetic studies and sharing genetic data, like video clips [40]. The clear preference for learning more about future users and uses, being told about incidental findings, and being able to access the results of future studies, means that cohort participants in Nicaragua and Colombia had the expectation that their shared data and samples could be linked to them so that they could be recontacted.…”

Section: Discussionmentioning

confidence: 99%

“How about me giving blood for the COVID vaccine and not being able to get vaccinated?” A cognitive interview study on understanding of and agreement with broad consent for future use with cohort participants and guardians in Colombia and Nicaragua

Maxwell¹,

Chamorro²,

Leegstra³

et al. 2022

Preprint

View full text Add to dashboard Cite

Informed consent (IC) is key to generating and maintaining research participants' trust and upholding the ethical principle of autonomy. Broad consent for future use, wherein researchers ask participants for permission to share participant-level data and samples collected within the study for purposes loosely related to the study objectives, is central to enabling ethical data and sample reuse. Ensuring that participants understand broad consent-related language is key in maintaining trust in the study itself and in public health research generally. Therefore, we conducted 52 cognitive interviews with the help of semi-structured interview guides to explore cohort research participants' understanding of the broad consent-related language in the University of California at Berkeley template IC form for biomedical research with participants from long-standing infectious disease cohort studies in Nicaragua and Colombia. After the first round of interviews, we used participants' explanations to modify the broad consent-related language in the IC template and consequently re-evaluated participants' understanding of and agreement with the new consent form. Participants generally supported data and sample sharing but expressed concerns about the intentions of for-profit groups as well as misuse of data or samples. Moreover, they felt uncomfortable not receiving information about incidental findings and results from future studies. Cohort participants did not understand abstract concepts including the collection and reuse of genetic data in either version of the IC. Trust in the research team and the belief that data and sample sharing could lead to new scientific insights and improved treatments were key to participant support for data and sample sharing. The study findings and research participants' language to describe broad consent provide essential insights for researchers who want to include broad consent and ethics review committees (ERCs) working to ensure research is conducted in keeping with the ethical principle of respect for persons.

show abstract

“…During the design process of HKGP consent protocol, consent protocols of other large-scale genomic projects such as the 100,000 Genomes Project, the latest consent policy and consent clauses for genomic research from the Global Alliance for Genomics and Health (GA4GH) were referenced, with the understanding that these frameworks have considered the opinions of the professionals and public [24][25][26][27] . To address the specific project details of HKGP, the Ethics Advisory Committee (EAC) [Figure 1] of HKGI advises on ethical issues in relation to the design and implementation, including the endorsement of the consent protocol of HKGP.…”

Section: The Thorough Process In Developing a Patient-focused Consent...mentioning

confidence: 99%

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project

Chu¹,

Fung²,

Tong³

et al. 2022

J Transl Genet Genom

View full text Add to dashboard Cite

Genomic medicine and precision medicine initiatives have taken centre stage in scientific, clinical, as well as health economics and utility research on the global scene for the past decade. It is clear the important role genomic advancement has played in enhancing diagnostic rate, streamlining personalised treatment, and improving efficacy of the overall clinical management of undiagnosed, rare, and common diseases for humankind. The Hong Kong Genome Institute (HKGI) was established in May 2020 within the Food and Health Bureau, Hong Kong Special Administrative Region, to integrate genomic medicine into mainstream healthcare. The main goals of setting up HKGI are to (1) improve the diagnostic rate and future care for individuals affected by undiagnosed diseases and hereditary cancers using whole genome sequencing; (2) advance research in genomic science; (3) nurture talents in genomic medicine; and (4) enhance public genomic literacy and overall engagement through the launching of the Hong Kong Genome Project (HKGP). In this paper, we review the current landscape and specific challenges encountered during the construction of the infrastructure and implementation of the pilot phase of HKGP. Through reviewing what has been achieved and established to date, and the potentials and prospects that have emerged in the process, this paper will provide insights into planning the main phase of HKGP, and considerations for our international counterparts when building similar projects.

show abstract

Informed Consent in the Genomics Era

Cited by 20 publications

References 72 publications

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

“How about me giving blood for the COVID vaccine and not being able to get vaccinated?” A cognitive interview study on understanding of and agreement with broad consent for future use with cohort participants and guardians in Colombia and Nicaragua

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project

Contact Info

Product

Resources

About