Ethical challenges in autism genomics: Recommendations for researchers

Natri, Heini M.; Chapman, Carolyn R.; Heraty, Síofra; Dwyer, Patrick; Walker, Nick; Kapp, Steven K.; Dron, Heather A.; Martinez-Agosto, Julian A.; Mikkola, Lea; Doherty, Mary

doi:10.1016/j.ejmg.2023.104810

Cited by 6 publications

(4 citation statements)

References 85 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic research can involve complex ethical challenges, making it crucial to prioritise ethical considerations and participatory research practices (21,28). Participatory research practices can help ensure that the interests of our participants are appropriately represented and that the study is beneficial to its participants and the wider community.…”

Section: Patient and Public Involvement And Ethical Consultationsmentioning

confidence: 99%

“…However, to date, there is no known gene that, when mutated, increases the likelihood of an autism diagnosis without also increasing the likelihood of intellectual disability or other neurodevelopmental conditions (27). Consequently, genetic research is an important biomedical tool in the study of autism and associated rare genetic conditions, with benefits including personalised medicine, early identification of health risks, a better selfunderstanding, and a sense of community (28). To aid the development of evidence-based care for autistic people and those with associated rare genetic conditions, it is crucial to better understand genetic differences between syndromic forms of autism and autism without a known highly penetrant genetic influence.…”

mentioning

confidence: 99%

See 1 more Smart Citation

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Bloomfield,

Lautarescu,

Heraty

et al. 2023

Preprint

View full text Add to dashboard Cite

Introduction: Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical, and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and genetic profiles. Methods and analysis: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1,500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will give a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent for the study to access pre-existing clinical data. Participants will be added to the EAGER registry. Data will be shared via the Autism Sharing Initiative, a new international collaboration aiming to create a federated system for autism data sharing. Ethics and dissemination: EAGER has received full ethical approval from ethics committees in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023) and Spain (HCB/2023/0038, PIC-164-22). Approvals are in the process of being obtained from committees in Italy, Sweden, Ireland, and France. Findings will be disseminated via scientific publications and conferences, but also beyond to participants and the wider community (e.g., the AIMS-2-TRIALS website, stakeholder meetings, newsletters).

show abstract

Section: Patient and Public Involvement And Ethical Consultationsmentioning

confidence: 99%

mentioning

confidence: 99%

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Bloomfield,

Lautarescu,

Heraty

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“… 27 Consequently, genetic research is an important biomedical tool in the study of autism and associated rare genetic conditions, with benefits including personalised medicine, early identification of health risks, a better self-understanding and a sense of community. 28 To aid the development of evidence-based care for these populations, it is crucial to better understand genetic differences between syndromic forms of autism and autism without a known highly penetrant genetic influence. Further, by linking genetic mechanisms to treatment outcomes, accurate information can be offered regarding potential difficulties, as well as regarding interventions that may be effective for aspects of their lived experience that they want or need support with.…”

Section: Introductionmentioning

confidence: 99%

European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Bloomfield,

Lautarescu,

Heraty

et al. 2024

BMJ Open

Self Cite

View full text Add to dashboard Cite

IntroductionAutism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants’ genetic profiles.Methods and analysisEAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms.Ethics and disseminationTo date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).

show abstract

“…Many individuals feel that certain lines of autism research, such as pursuing a "cure", serve to further stigmatize autism rather than improve the lives of autistic individuals (Pellicano, 2011). In part due to this reason, ethical concerns have been voiced over the long-term use of data stored in a repository (Natri et al, 2023). Even when a potential study participant feels comfortable consenting to the initial study that generates their data, uncertainty regarding how that data will be used in the future may give them pause.…”

mentioning

confidence: 99%

Enhancing multi‐site autism research through the development of a collaborative data platform

Anderson,

Roth,

Rosenau

et al. 2024

Autism Research

View full text Add to dashboard Cite

Data repositories, particularly those storing data on vulnerable populations, increasingly need to carefully consider not only what data is being collected, but how it will be used. As such, the Autism Intervention Research Network on Physical Health (AIR‐P) has created the Infrastructure for Collaborative Research (ICR) to establish standards on data collection practices in Autism repositories. The ICR will strive to encourage inter‐site collaboration, amplify autistic voices, and widen accessibility to data. The ICR is staged as a three‐tiered framework consisting of (1) a request for proposals system, (2) a REDCap‐based data repository, and (3) public data dashboards to display aggregate de‐identified data. Coupled with a review process including autistic and non‐autistic researchers, this framework aims to propel the implementation of equitable autism research, enhance standardization within and between studies, and boost transparency and dissemination of findings. In addition, the inclusion of a contact registry that study participants can opt into creates the base for a robust participant pool. As such, researchers can leverage the platform to identify, reach, and distribute electronic materials to a greater proportion of potential participants who likely fall within their eligibility criteria. By incorporating practices that promote effective communication between researchers and participants, the ICR can facilitate research that is both considerate of and a benefit to autistic people.

show abstract

Ethical challenges in autism genomics: Recommendations for researchers

Cited by 6 publications

References 85 publications

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Enhancing multi‐site autism research through the development of a collaborative data platform

Contact Info

Product

Resources

About