Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison

Horn, Ruth; Merchant, Jennifer

doi:10.1038/s41431-022-01247-y

Cited by 7 publications

(6 citation statements)

References 21 publications

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“…The findings of this survey reflect barriers to genetic testing in the US, which has both unique benefits and inadequacies compared with systems in European and other countries. 36 , 37 , 38 , 39…”

Section: Discussionmentioning

confidence: 99%

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Barriers to Genetic Testing in Vascular Malformations

et al. 2023

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ImportanceVascular malformations (VMs) are rare disorders of vasculogenesis associated with substantial morbidity. Improved understanding of their genetic basis is increasingly guiding management, but logistical barriers to obtaining genetic testing in patients with VM may constrain treatment options.ObjectivesTo examine the institutional mechanisms for and obstacles to obtaining genetic testing for VM.Design, Setting, and ParticipantsThis survey study invited members of the Pediatric Hematology-Oncology Vascular Anomalies Interest Group, representing 81 vascular anomaly centers (VACs) serving individuals up to 18 years of age, to complete an electronic survey. Respondents were mostly pediatric hematologists-oncologists (PHOs) but included geneticists, genetic counselors, clinic administrators, and nurse practitioners. Responses that were received between March 1 and September 30, 2022, were analyzed with descriptive methods. Requirements for genetic testing by several genetics laboratories were also reviewed. Results were stratified by size of the VAC.Main Outcomes and MeasuresVascular anomaly center and associated clinician characteristics and practice patterns for ordering and obtaining insurance approval for genetic testing for VMs were collected.ResultsResponses were received from 55 of 81 clinicians, for a response rate of 67.9%. Most respondents were PHOs (50 [90.9%]). Most respondents (32 of 55 respondents [58.2%]) replied that they order genetic testing on 5 to 50 patients per year and reported a genetic testing volume increase of 2- to 10-fold over the past 3 years (38 of 53 respondents [71.7%]). Most testing was ordered by PHOs (35 of 53 respondents [66.0%]), followed by geneticists (28 [52.8%]) and genetic counselors (24 [45.3%]). In-house clinical testing was more common at large and medium-sized VACs. Small VACs were more likely to use oncology-based platforms, which potentially miss low-frequency allelic variants in VM. Logistics and barriers varied by size of the VAC. Obtaining prior authorization was the duty shared among PHOs, nurses, and administrative staff, but the burden of insurance denials and appeals were on PHOs (35 of 53 respondents [66.0%]). Lack of administrative support; unclear institutional, insurance, and laboratory requirements; and lack of clinician education were barriers to genetic testing at VACs of all sizes. The effort to obtain genetic testing for patients with VM, compared with patients with cancer, was perceived as excessive, despite genetic testing being considered standard of care for this population.Conclusions and RelevanceResults of this survey study showed the barriers to genetic testing for VM across VACs, described differences between VACs based on size, and proposed multiple interventions to support clinicians ordering genetic testing for VM. The results and recommendations should have broader application to clinicians caring for patients for whom molecular diagnosis is important to medical management.

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Section: Discussionmentioning

confidence: 99%

“…Ultimately, more widespread access to vascular anomalies experts, including geneticists and genetic counselors, would facilitate testing. The findings of this survey reflect barriers to genetic testing in the US, which has both unique benefits and inadequacies compared with systems in European and other countries [36][37][38][39].…”

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confidence: 99%

Barriers to Genetic Testing in Vascular Malformations

et al. 2023

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“…Two more recent aspects that are worth highlighting are patient and public involvement as well as equal access to precision diagnostics. We have witnessed in the last years that patients are a driving force in almost every aspect of PM: They largely support secondary research with their data [32] and are advocates for research, especially in underfunded areas [33]. Patients have a specific interest that their data also yield a benefit, that data initiatives are trustworthy, and, hence, that they are involved as patient experts in the governance of larger data initiatives.…”

Section: Ethical Debate-topics Best Practice and New Challengesmentioning

confidence: 99%

Implementation of precision medicine in healthcare—A European perspective

Stenzinger,

Moltzen,

Winkler

et al. 2023

J Intern Med

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The technical development of high‐throughput sequencing technologies and the parallel development of targeted therapies in the last decade have enabled a transition from traditional medicine to personalized treatment and care. In this way, by using comprehensive genomic testing, more effective treatments with fewer side effects are provided to each patient—that is, precision or personalized medicine (PM). In several European countries—such as in England, France, Denmark, and Spain—the governments have adopted national strategies and taken “top‐down” decisions to invest in national infrastructure for PM. In other countries—such as Sweden, Germany, and Italy with regionally organized healthcare systems—the profession has instead taken “bottom‐up” initiatives to build competence networks and infrastructure to enable equal access to PM. In this review, we summarize key learnings at the European level on the implementation process to establish sustainable governance and organization for PM at the regional, national, and EU/international levels. We also discuss critical ethical and legal aspects of implementing PM, and the importance of access to real‐world data and performing clinical trials for evidence generation, as well as the need for improved reimbursement models, increased cross‐disciplinary education and patient involvement. In summary, PM represents a paradigm shift, and modernization of healthcare and all relevant stakeholders—that is, healthcare, academia, policymakers, industry, and patients—must be involved in this system transformation to create a sustainable, non‐siloed ecosystem for precision healthcare that benefits our patients and society at large.

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“…Building on earlier workshops that explored the challenges that the collection, storage and sharing of genomic data may pose to the social contract (i.e. implicit or explicit agreements and expectations of the public towards science/medicine) in France, Germany and the UK [ 2 ], our third workshop investigated the very specific issue of public-private partnerships in genomic data collection, storage and transfer in these countries.…”

Section: Introductionmentioning

confidence: 99%

“…As discussed in our last Consortium paper [ 2 ], the involvement of profit-driven companies and the increasing interest in turning health data into a wealth asset is challenging the social contract between a solidarity-based welfare state and its citizens; a contract that was established to ultimately benefit the public at large [ 3 , 10 , 11 ]. In this present paper we specifically explore, in the first part, the ways in which the countries we examined—the UK, France, Germany and Israel—attempt or fail to reinvigorate the social contract and secure trust from their citizens when entering for-profit partnerships relative to health data sharing for secondary use (i.e.…”

Section: Introductionmentioning

confidence: 99%

Ethical and social implications of public–private partnerships in the context of genomic/big health data collection

Horn,

Merchant,

Horn

et al. 2024

Eur J Hum Genet

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This paper reports on the findings of an international workshop organised by the UK-France+ Genomics and Ethics Network (UK-FR + GENE) in 2022. The focus of the workshop were the ethical and social issues raised by public-private partnerships in the context of large-scale genomics initiatives in France, Germany, the United Kingdom and Israel, i.e. collaborations where commercial entities are given access to publicly held genomic data. While the public sector relies on partnerships with commercial entities to exploit the full potential of the data it holds, such collaborations may have an impact on the return of benefits to the public sector and on public trust, and subsequently challenge the social contract. The first part of this paper explores the ways in which the four countries examined respond to the challenges posed to the social contract, and what safeguards they put in place to secure public trust. The second part presents three approaches to address the challenges of private-public partnerships in secondary data use. In conclusion, this paper offers a set of minimum requirements for these partnerships within solidarity-based publicly funded healthcare systems. These include the necessity of public-private partnerships to (1) contribute to the public benefit and minimise harm produced by the use of publicly held data; (2) avoid prioritisation of commercial interests over robust governance structures to guarantee benefits to the public and protect donors, especially marginalised groups; (3) side-step the pitfalls of the rhetoric of solidarity and be transparent about the challenges to return the benefits to ‘all’.

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Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison

Cited by 7 publications

References 21 publications

Barriers to Genetic Testing in Vascular Malformations

Barriers to Genetic Testing in Vascular Malformations

Implementation of precision medicine in healthcare—A European perspective

Ethical and social implications of public–private partnerships in the context of genomic/big health data collection

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