Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Background: It has been proposed that the existing ASPirin in Reducing Events in the Elderly Extension observational cohort study (ASPREE-XT) would provide a platform for a future multigenerational research study (MGRS). An advert was sent to 14,268 participants (aged 74 years and older, from Australia, and located in both metropolitan and rural locations) to invite them to share views and preferences about being involved in the co-design of a future MGRS, as their preferences were not known. The objective of this article is to report as a case study the process of involving study participants and how this impacted the co-design of a proposed multi-generational research study, using a novel standardised reporting tool. Methods: We used participatory action research to involve elderly research participants in the co-design of a proposed multi-generational cohort study between 2017-2019 using newsletters, telephone interviews and an in-person workshop. We used the novel ‘Standardised Data on Initiatives Alpha Version 0.1’ (STARDIT 0.1) to plan and report how participant involvement activities positively impacted the study design.Results: Fifty-nine ASPREE-XT participants were interviewed by telephone and 18 participants attended a face-to-face event. Involving participants positively impacted the proposed study design by improving the research objectives, developing protocols, influencing funding decisions and improving ethics applications. Learning points included the importance of maintaining the ideals of ASPREE-XT (respect, quality and transparency); research participants’ preference for the option of receiving results (including genetic results); participants’ need for involvement in decisions about recruitment, data access, governance and other ethical issues; and the preference for different communication methods, including both face-to-face and online methods. Data from the process indicated it was highly valued by all stakeholders, including research participants, study staff and lead investigators. Involvement of participants was described by a lead study investigator of ASPREE-XT as “enormously helpful”.Conclusions: This case study demonstrates that including participants in the design of a research study positively impacted the study design, participants and researchers. Using a standardised reporting tool to describe the methods and impacts provides a way for learning from this case study to inform future research studies planning to involve people.

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“…GPs to access and interpret genomic data also aligns with findings from other studies [57][58][59] .…”

Section: Discussionsupporting

confidence: 71%

Involving elderly research participants in the co-design of a future multi-generational cohort study

Nunn

Sulovski

Tiller

et al. 2021

Preprint

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“…It is estimated that over US$4 billion of government funding has been used to support the development of translational genomics initiatives globally, 1 and the relevance of genomics is expanding across different clinical contexts and throughout the human life cycle. 2 Yet, implementation into mainstream clinical care has been slow and challenging. While a range of implementation barriers have been identified, 3 , 4 there is a significant lack of empirical evidence on the determinants of GS uptake and the value components of GS that should inform reimbursement decisions in health care.…”

Section: Introductionmentioning

confidence: 99%

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Goranitis

Best

Christodoulou

et al. 2020

Genetics in Medicine

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Purpose To estimate the personal utility and uptake of genomic sequencing (GS) across pediatric and adult-onset genetic conditions. Methods Three discrete choice experiment (DCE) surveys were designed and administered to separate representative samples of the Australian public. Bayesian D-efficient explicit partial profile designs were used. Choice data were analyzed using a panel error component random parameter logit model. Results Overall, 1913 participants completed the pediatric ( n = 533), symptomatic adult ( n = 700) and at-risk adult ( n = 680) surveys. The willingness-to-pay for GS information in pediatric conditions was estimated at $5470–$15,250 (US$3830–$10,675) depending on the benefits of genomic information. Uptake ranged between 60% and 81%. For symptomatic adults, the value of GS was estimated at $1573–$8102 (US$1100–$5671) and uptake at 34–82%. For at-risk adults, GS was valued at $2036–$5004 (US$1425–$3503) and uptake was predicted at 35–61%. Conclusion There is substantial personal utility in GS, particularly for pediatric conditions. Personal utility increased as the perceived benefits of genomic information increased. The clinical and regulatory context, and individuals’ sociodemographic and attitudinal characteristics influenced the value and uptake of GS. Society values highly the diagnostic, clinical, and nonclinical benefits of GS. The personal utility of GS should be considered in health-care decision-making.

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“…The MSAC evaluation process is robust and extensive and involves an assessment of the clinical validity, clinical utility and cost-effectiveness of the test ( 18 ). Although many of the safety and quality issues for genomic testing are similar to other types of medical tests, some issues are intensified in the case of genomic testing, and issues may differ depending on the target population or purpose of the test ( 1 ). For example, a genomic test may be less effective for population-based screening compared to use as a diagnostic test in a symptomatic individual ( 1 , 19 ).…”

Section: Genomic Servicesmentioning

confidence: 99%

“…The use of genomic information to inform healthcare is becoming increasingly common. Associated with these emerging technologies is the potential for growth of prognostic, predictive, diagnostic, and pharmacogenomic testing and screening, which can have relevance at multiple life stages ( 1 ). However, access to and governance of these potentially beneficial testing applications varies, with some already being embedded into national, publicly funded health systems while others are offered only in some jurisdictions, only in the private sector or directly to consumers.…”

Section: Introductionmentioning

confidence: 99%

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

Burns

Bilkey

Coles

et al. 2019

Front. Public Health

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This paper examines key considerations for the successful integration of genomic technologies into healthcare systems. All healthcare systems strive to introduce new technologies that are effective and affordable, but genomics offers particular challenges, given the rapid evolution of the technology. In this context we frame internationally relevant discussion points relating to effective and sustainable implementation of genomic testing within the strategic priority areas of the recently endorsed Australian National Health Genomics Policy Framework. The priority areas are services, data, workforce, finances, and person-centred care. In addition, we outline recommendations from a government perspective through the lens of the Australian health system, and argue that resources should be allocated not to just genomic testing alone, but across the five strategic priority areas for full effectiveness.

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Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Cited by 53 publications

References 77 publications

Involving elderly research participants in the co-design of a future multi-generational cohort study

Involving elderly research participants in the co-design of a future multi-generational cohort study

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

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