Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to ...systematically review the empirical literature exploring stakeholders' perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.
This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer (Lynch ...Syndrome). 50 were invited to participate (42 were tested; eight declined genetic testing). 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees’ experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as ‘common sense’; the idea of choice around the decision was negated and replaced by a moral imperative to be tested. Those who did not follow ‘common sense’ were judged to be imprudent. Family members who declined testing were discussed negatively by participants. The article addresses what is ethically problematic about how test decliners were discussed and whether these ethical concerns extend to others who are offered genetic testing. Discussions showed that genetic testing was viewed as both an autonomous choice and a responsibility. Yet the apparent conflict between the right to autonomy and the moral imperative of responsibility allowed participants to defend test decliners’ decisions by expressing a preference for or defending choice over responsibility. The ‘right not to know’ seemed an important moral construct to help ethically manage unpopular decisions made by close family who declined testing. In light of this research, the erosion of the ‘right not to know’ in the genomic age could have subtle yet profound consequences for family relationships.
Genomic and biosocial research data about individuals is rapidly proliferating, bringing the potential for novel opportunities for data integration and use. The scale, pace and novelty of these ...applications raise a number of urgent sociotechnical, ethical and legal questions, including optimal methods of data storage, management and access. Although the open science movement advocates unfettered access to research data, many of the UK's longitudinal cohort studies operate systems of managed data access, in which access is governed by legal and ethical agreements between stewards of research datasets and researchers wishing to make use of them. Amongst other things, these agreements aim to respect the reasonable expectations of the research participants who provided data and samples, as expressed in the consent process. Arguably, responsible data management and governance of data and sample use are foundational to the consent process in longitudinal studies and are an important source of trustworthiness in the eyes of those who contribute data to genomic and biosocial research.
This paper presents an ethnographic case study exploring the foundational principles of a governance infrastructure for Managing Ethico-social, Technical and Administrative issues in Data ACcess (METADAC), which are operationalised through a committee known as the METADAC Access Committee. METADAC governs access to phenotype, genotype and 'omic' data and samples from five UK longitudinal studies.
Using the example of METADAC, we argue that three key structural features are foundational for practising responsible data sharing: independence and transparency; interdisciplinarity; and participant-centric decision-making. We observe that the international research community is proactively working towards optimising the use of research data, integrating/linking these data with routine data generated by health and social care services and other administrative data services to improve the analysis, interpretation and utility of these data. The governance of these new complex data assemblages will require a range of expertise from across a number of domains and disciplines, including that of study participants. Human-mediated decision-making bodies will be central to ensuring achievable, reasoned and responsible decisions about the use of these data; the METADAC model described in this paper provides an example of how this could be realised.
PurposeTo document our experiences as female non-native researchers carrying out qualitative research in another country (Bahrain), and to reflect on our interactions with cultural insiders (CIs) as ...informants in this qualitative study. CIs share cultural commonalities such as language, social background and culture and are considered accepted members of the local community.Design/methodology/approachTwo Bahraini academics were recruited as CIs for a qualitative research study and informant data was collected through face-to-face unstructured interviews over a period of 16 months. Data analysis involved manual and NVivo analytical processes.FindingsResearch findings derived three main themes: perceptions relating to the research participant interview template, views on collaboration in Bahrain, and research practicalities. CI engagement offered an opportunity to get fresh perspectives and insights that ultimately informed and improved the standard of research practice.Research limitations/implicationsAs knowledge is subjective, multidimensional and partial, the inclusion of CIs offers a greater opportunity to capture true meaning within the data. Through close proximity to the research context, CIs can share pivotal social insights on the design of interview instruments and process, and on member checking and findings. However, CIs come with their own experiences and views of their community, a recognised limitation in this study.Practical implicationsA CI research protocol, designed to set boundaries and document the steps involved in CI engagement offers a process that may be replicated or adapted in future research and ensures parameters are observed for all parties and affords the security of insider counsel where and when needed.Originality/valueThe methodological approach of incorporating CIs as informants from the Middle East, is novel in management research.
From: 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer Dallas, TX, USA 12-13 October 2010 Author details1-Institute of Human Genetics, Newcastle ...University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UKEMPTY2-PEALS (Policy, Ethics and Life Sciences Research Centre), Newcastle University Citywall, Citygate, St. James' Boulevard, Newcastle upon Tyne, NE1 4JH, UKEMPTY3-Institute of Health and Society, Newcastle University, Baddiley-Clark Building, Richardson Road, Newcastle upon Tyne, NE2 4AX, UKEMPTY Supplemental Information: The methodology used multiple qualitative interviews and visual methods including photo elicitation, social mapping and engagement with the genetic family pedigree.
Testing for germline pathogenic variants (GPVs) in cancer predisposition genes is increasingly offered as part of routine care for patients with cancer. This is often urgent in oncology clinics due ...to potential implications on treatment and surgical decisions. This also allows identification of family members who should be offered predictive genetic testing. In the UK, it is common practice for healthcare professionals to provide a patient information leaflet (PIL) at point of care for diagnostic genetic testing in patients with cancer, after results disclosure when a GPV is identified, and for predictive testing of at-risk relatives. Services usually create their own PIL, resulting in duplication of effort and wide variability regarding format, content, signposting and patient input in co-design and evaluation.
Representatives from UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar programme and Association of Genetic Nurse Counsellors (AGNC) held a 2-day meeting with the aim of making recommendations for clinical practice regarding co-design of PIL for germline cancer susceptibility genetic testing. Lynch syndrome and haematological malignancies were chosen as exemplar conditions.
Meeting participants included patient representatives including as co-chair, multidisciplinary clinicians and other experts from across the UK. High-level consensus for UK recommendations for clinical practice was reached on several aspects of PIL using digital polling, including that PIL should be offered, accessible, co-designed and evaluated with patients.
Recommendations from the meeting are likely to be applicable for PIL co-design for a wide range of germline genetic testing scenarios.
Abstract
Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ...ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark. We reviewed the clinical, radiological and genetic data for several families with a clinical diagnosis of Joubert syndrome but negative genetic analysis. We detected biallelic pathogenic variants in LAMA1, including novel alleles, in each of the four cases we report, thereby establishing a firm diagnosis of Poretti–Boltshauser syndrome. Analysis of brain MRI revealed cerebellar dysplasia and cerebellar cysts, associated with Poretti–Boltshauser syndrome and the absence of typical molar tooth signs. Using large UK patient cohorts, the relative prevalence of Joubert syndrome as a cause of intellectual disability was 0.2% and of Poretti–Boltshauser syndrome was 0.02%. We conclude that children with congenital brain disorders that mimic Joubert syndrome may have a delayed diagnosis due to poor recognition of key features on brain imaging and the lack of inclusion of LAMA1 on molecular genetic gene panels. We advocate the inclusion of LAMA1 genetic analysis on all intellectual disability and Joubert syndrome gene panels and promote a wider awareness of the clinical and radiological features of these syndromes.
Powell, Olinger et al. report four gene panel-negative kindreds with presumed Joubert syndrome where critical review of clinico-radiological data coupled with exome sequencing re-assigned a corrected diagnosis of Poretti-Boltshauser syndrome with prognostic implications. Phenotypic overlap and limited disease hallmark recognition advocate for broad, unbiased genetic testing in rare neurodevelopmental disorders.
Graphical Abstract
Graphical Abstract
Video Abstract
10.1093/braincomms/fcab163_video1
Video Abstract
fcab163media1
6267329862001
Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to ...systematically review the empirical literature exploring stakeholders' perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.
Editorial on Supervision Middleton, Anna; Cowley, Lorraine; Clarke, Alison
Journal of genetic counseling,
April 2007, 2007-Apr, 2007-04-00, 20070401, Letnik:
16, Številka:
2
Journal Article
Recenzirano
This Editorial provides background information to inform the report from the United Kingdom (UK) and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic ...Counselling Supervision. We begin by introducing the context of practice as a genetic counselor in the UK and then follow with an overview of events that have happened in our profession that led to the need and creation of the report. Genetic counseling supervision has become instrumental to our practice, training and registration as genetic counselors in the UK.
The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which represents genetic counsellors and genetic nurses in the United Kingdom (UK) and Eire. The AGNC ...recognises that genetic counselling supervision is instrumental to the practice, training and registration of genetic counsellors in the UK. The AGNC formed a Supervision Working Group, whose terms of reference were to collate information on supervision and create a list of ‘best practice’ recommendations for its genetic counsellor members. This report delivers the findings from the Supervision Working Group and has been peer reviewed by the AGNC membership in the UK and Eire and ratified by the AGNC Committee. It offers a working definition of genetic counselling supervision, gives an overview of some of the literature on supervision and concludes with practice recommendations.
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