Kinship and genetic journeys: A study of the experiences of families who are referred to paediatric genetics
Lead Research Organisation:
Newcastle University
Department Name: Sch of Geog, Politics and Sociology
Abstract
Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.
Organisations
Publications
Clavering EK
(2010)
Children's participation in health research: from objects to agents?
in Child: care, health and development
Clavering, E.
(2009)
Ethnographies of genetic and kinship imaginaries
in Vital Politics III Conference
Emma Clavering (author)
(2010)
A crisis in the genes? : children and young people's responses to processes of medical labelling through paediatric genetics
in European Association of Social Anthropology Conferenec
Janice McLaughlin (author)
(2010)
Visualising genetics : modes of diagnosis and interpretation in the troubling body within paediatric genetics
in The European Association for the Study of Science and Technology Conference
Janice McLaughlin (Author)
(2011)
Families' experiences of paediatric genetics : findings from an ethnographic study
in British Society for Human Genetics Conference
Janice McLaughlin (author)
(2010)
Othering and recognition in paediatric genetics
in N/A
Janice McLaughlin (author)
(2010)
Narratives of othering and recognition in paediatric genetics
in N/A
Janice McLaughlin (author)
(2009)
How does citizenship and care intersect in the lives of mothers of disabled children?
in American Sociological Association Annual Conference
Janice McLaughlin (Author)
(2011)
Visualising genetics : modes of diagnosis and interpretation in the troubling body within paediatric genetics
in European Sociological Association
Janice McLaughlin (Author)
(2011)
Potential familial and patient responses to gene therapy : lessons from current genetics provision in healthcare
in TREAT-NMD 2011 International Conference
| Description | Key themes linked to our aims and objectives. Diagnosis: Families arrived at the genetic consultation hoping that they would receive: an explanation for why their child was developing differently; an indication of what the future might hold for them, and advice on the risk of a future child having similar problems. When they obtained a diagnosis it could provide some practical benefits, but at times the benefits of a diagnosis were limited because it could say little about what the future held. While some parents were informed that the risks for future pregnancies were not high or were similar to the general population, the very raising of this issue made it hard for parents to approach future pregnancy without hesitation (Gen'd Up Report). Othering: The diagnostic process does have the potential to place the child in the category of the 'other' in a way that could emphasise how they are different from others in the family and beyond. However, we argue that this outcome is often escaped. First, the full dynamics of the consultation contain deliberate reminders of the child's normalcy and the variation embedded in all children's development. Second, the co-location of genetic investigations within existing family tales, imagery, histories and other practices, sustains a continuing view of the child as a full family member (SHI paper). Uncertainty: Due to the ability of new technologies being used in paediatric genetics to identify rare and complex genetic variations, geneticists may be limited in what they can say about what the future holds for any particular child. Parents, children and other family members find that uncertainty frustrating. However, it is the presence of uncertainty throughout the diagnostic process that allows all of them to creatively approach how much significance to give to genetics as something which can predict the future (paper submitted to Sociology). Inheritance: Genetic variation can either be inherited or be a 'de novo mutation'. In cases of de novo mutation, questions still arise about what this means for the future of the kinship-line. In addition, the de novo mutation can become incorporated in narratives of genetic 'bad luck' which are then used to refute existing disputes over the qualities of a family's social inheritance. Finally, people's responses to the identification of a new mutation were also influenced by broader social judgements about what are good families (NGS Paper). The internet: Unsurprisingly all families turned to the internet for information and advice during the diagnostic process. This can create problems when websites focus on extreme cases and display unusual physical characteristics. Parents associated the more unusual physical characteristics with a more negative future for the child. However, the internet could also be a source of belonging, community and reassurance as parents found stories of children progressing well and found they could communicate with other families in similar situations. Given the rareness of some of the genetic variations found, being able to reach out to a virtual community of people in similar situations was valuable (Gen'd Up Report). |
| Exploitation Route | So far we have produced 1 book chapter, 4 articles, 11 presentations to academic audiences and 4 presentations to practitioner conferences (ROC outputs). Our scientific input is centred on bringing forward new understandings on how childhood difference is understood and managed via medical approaches. We are generating an international network around this theme and launched it via an international symposium, 'Medical and Scientific Understandings of Childhood Difference: Framings, Representations and Imaginaries' that we held in Newcastle. We are also translating findings into materials that can be useful for families, practitioners and policy makers. We have produced a report for families and practitioners which is available online and has been distributed nationally via Contact A Family. Through the organisations Unique, Genetic Alliance and Syndromes Without A Name (SWAN) we are developing shorter leaflets which will be available for families at the point of referral. At the local level the research has resulted in a reassessment in the genetic service we worked with regarding the presentation of the concept of 'findings' to families and a review of the policy around follow up of families. There is pressure across the NHS to reduce follow up activity in secondary and tertiary care settings. This work emphasises the value of that process to families. The service were encouraged by the overall positive view that families hold of their interactions with them. We also hosted a workshop for families and practitioners in partnership with Contact a Family and Unique and with the support of Sensory Spaces, a childcare provider which specialises in providing crèches for children with learning and physical disabilities. The feedback from the event was extremely positive. Feedback sheets from everyone said all aspects of the workshop were useful and included comments on the value of being 'able to hear directly from families about their experiences and this always has the most impact' (Geneticist) and 'my family's experiences are so similar to others - we're not alone' (Parent). The long term impact of the project will be through publications and through the duplication of the methods in future research projects examining new areas of medical diagnosis and treatment of children. |
| Sectors | Communities and Social Services/Policy,Healthcare |
| URL | http://www.ncl.ac.uk/peals/research/project/2745 |
| Description | So far we have produced 1 book, 2 book chapters, 6 articles, over 13 presentations to academic audiences and 4 presentations to practitioner conferences (ROC outputs). Our scientific input is centred on bringing forward new understandings on how childhood difference is understood and managed via medical approaches. We are generating an international network around this theme and launched it via an international symposium, 'Medical and Scientific Understandings of Childhood Difference: Framings, Representations and Imaginaries' that we held in Newcastle. We are also translating findings into materials that can be useful for families, practitioners and policy makers. We have produced a report for families and practitioners which is available online and has been distributed nationally via Contact A Family. Through the organisations Unique, Genetic Alliance and Syndromes Without A Name (SWAN) we are developing shorter leaflets which will be available for families at the point of referral. At the local level the research has resulted in a reassessment in the genetic service we worked with regarding the presentation of the concept of 'findings' to families and a review of the policy around follow up of families. There is pressure across the NHS to reduce follow up activity in secondary and tertiary care settings. This work emphasises the value of that process to families. The service were encouraged by the overall positive view that families hold of their interactions with them. We also hosted a workshop for families and practitioners in partnership with Contact a Family and Unique and with the support of Sensory Spaces, a childcare provider which specialises in providing crèches for children with learning and physical disabilities. The feedback from the event was extremely positive. Feedback sheets from everyone said all aspects of the workshop were useful and included comments on the value of being 'able to hear directly from families about their experiences and this always has the most impact' (Geneticist) and 'my family's experiences are so similar to others - we're not alone' (Parent). The long term impact of the project will be through publications and through the duplication of the methods in future research projects examining new areas of medical diagnosis and treatment of children. We have given 16 presentations to different regional, national and international, academic audiences, including 4 invited talks. The talks and publications have presented on the findings of the project (papers in Sociology, Sociology of Health and Illness, presentations to ESA, EASST, and EASA); on our methodological approach, (paper in Child, invited talks to Nuffield Seminar on 'Medical Practitioners, Adolescents and Informed Consent' and a joint Childhood Studies Group and CESAGEN Seminar at Cardiff University) and on the pedagogical implications for the genetics curriculum (invited talk at the 'Genetics, Genomics and Changing Understandings' Workshop, Leeds University). We also organised a research symposium on 'Medical and Scientific Understandings of Childhood Difference', which brought together leading scholars from sociology, medical anthropology, genetics and bioethics to explore the significance of our findings to contemporary debates. Several of the themes of the project continue to be pursued via other projects, for example Cowley's recently completed PhD, funded by Cancer Research UK, on kinship relations and genetics, and a current ESRC project on embodiment and disability. We are frequently asked to review papers on the social implications of genetics, disability and childhood and family for journals such as Sociology, New Genetics and Society, Sociology of Health and Illness, and Social Science and Medicine. The PI is a core member of a new international consortium of 'The Ethics of Family in Health and Social Care', between PEALS and the Universities of Groningen, Michigan, Uppsala and Singapore, through which international comparisons are now being pursued Our academic dissemination activities have sought to speak across sociology and medical anthropology, in particular to research networks working on genetics, childhood differences and family life. This is now generating ongoing invitations to speak to national and international meetings about our findings (for example invited talks to the New Families and Genetic Identities, Developments in Law, Policy and Research Conference in June at the London School of Economics and the Children's Relationships, Embodied Social Capital and Disability: Connecting Scales of Inclusion and Exclusion Conference at Loughborough University in July). The international dissemination activity has led to an invitation for the PI to spend time at Otago University's Department of Anthropology and Archaeology as a visiting scholar in early 2014. The publications will be valuable material for teaching modules on sociology of health and illness/medical sociology/sociology of family and kinship in the UK and elsewhere. The PI is teaching a new specialist module - Investigating the Body - which is making considerable use of the data and findings to engage students with themes of the project and to develop their research skills. We have also made use of project findings in Masters teaching, for example in the MSc in Public Health & Health Services Research and the MA in Sociology and Social Research, as well as Faculty wide postgraduate research training within Newcastle's ESRC recognised provision We have focused on (i) assisting genetic services and geneticists to reflect on their practices, and (ii) providing insight for families receiving a referral about what will happen to them as they move through the diagnostic journey. • In response to our findings The Northern Genetics Service reassessed their practices regarding the presentation of the concept of 'findings' to families and have undertaken a review of their policy on the follow up of families. While there is pressure across the NHS to reduce follow up activity in secondary and tertiary care settings, our work emphasised the value of that process to families. • The service was encouraged by the overall positive view that families held of them. In a time of significant change in genetic services and the NHS more broadly the issues we highlighted from families' experiences are important for stakeholders to consider and we have taken the areas NGS found most useful to the broader genetics community in the UK. • Through the dissemination of our work (listed below) we have provided materials to help families understand: o what is involved in achieving a diagnosis, o the multiple uncertainties involved in diagnosis, o what other families have gained (or not) from achieving a diagnosis, o how other families have responded to not obtaining a diagnosis. • New techniques for genetic testing were emerging as our study developed, so we are continuing to pursue the significance of those techniques to genetic services and to families. We have developed our key findings into multiple user outputs that summarise both the experiences of families undergoing a diagnosis and their perspectives on that experience. User Report for the Project which is available on paper and online: ? McLaughlin, J., Clavering, E.K., Haimes, E. and Wright, M. (2011) Genetic Journeys: Key Findings from a Study of the Experiences of Families Referred to Paediatric Genetics. Newcastle University Invited Presentations to key practitioner audiences: ? McLaughlin, J. and Clavering, E.K. (2013) 'Families' experiences of paediatric genetics: Findings from a sociological study', Association of Genetic Nurses and Counsellors, Spring Meeting, Collingwood College, Durham, April. ? McLaughlin, J. (2011) 'Families' experiences of paediatric genetics: Findings from an ethnographic study'. British Society for Human Genetics Conference, 5th - 7th September, Warwick University ? McLaughlin, J. (2011) 'Potential familial and patient responses to gene therapy: lessons from current genetics provision in healthcare' TREAT-NMD 2011 International Conference, Geneva, Nov. Conference presentations to key practitioner audiences: ? McLaughlin, J., Wright, M., Haimes, E. and Clavering, E. (2012) Social and Ethical Implications of Families' Experiences of Paediatric Genetics, Poster Presentation, American Society for Human Genetics Conference, San Francisco, November ? McLaughlin, J., Clavering, E., Wright, M. and Haimes, E. (2012) 'Families' experiences of paediatric genetics: key findings from a qualitative study of expectations, responses to diagnosis and the uncertainties of diagnosis', Joint meeting of the UK/Dutch Clinical Genetics Societies and Cancer Genetics Group, Spring Conference, Newcastle, March. The 2 main groups who receive benefit from the work are (i) families with a child being seen by a genetics service and (i) geneticists involved in their care. • We continue to work with groups such as SWAN, Unique and Contact a Family to produce material that will be useful to families. Further advice material is being developed by SWAN based on our findings. • Geneticists have recognised the value of the insight we provide and continue to come to us for involvement in new areas of research exploring new genetic testing possibilities for translation into clinical practice. The PI was named as a co-applicant on an application to the Sir Jules Thorn Charitable Trust to undertake new techniques for genetic diagnosis (whole exome sequencing) in childhood immunodeficiency. The scientific work was funded and we are just in the process of developing an NIHR Heath Services and Delivery Research application, with the clinician leading the scientific study, to undertake the social and ethical investigation with families. We also seek to influence public awareness and understanding of new applications of genetic research by identifying opportunities to enter public debate and dialogue. • The PI gave the following talk: 'What does genetics bring to understanding differences in childhood development?' to a Café Scientifique, in Newcastle in November 2012. |
| First Year Of Impact | 2011 |
| Sector | Communities and Social Services/Policy,Healthcare |
| Impact Types | Societal |
| Description | 'Thanks for asking': What research with children can tell us |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Other academic audiences (collaborators, peers etc.) |
| Results and Impact | A seminar presentation exploring the use of creative methods to involve children in research. This presentation was done at early stages of our development of these approaches and enabled us to learn from the techniques people shared with us. Aided us to develop our techniques in ways that were appropriate for working with the young participants in our study |
| Year(s) Of Engagement Activity | 2011 |
| Description | Boundaries of care and parenting |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | Yes |
| Geographic Reach | National |
| Primary Audience | Other academic audiences (collaborators, peers etc.) |
| Results and Impact | ESRC seminar series: changing parenting culture Ongoing participation in the Parenting Cultures Network |
| Year(s) Of Engagement Activity | 2009 |
| URL | http://www.parentingculturestudies.org/seminar-series/index.html |
| Description | The co-location of digital imagery and embodiment in paediatric genetics |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Other academic audiences (collaborators, peers etc.) |
| Results and Impact | A seminar presentation exploring the significance of the digital images produced during genetic diagnosis to the social meanings given to childhood difference An early dissemination of initial findings from the project, it enabled us to build academic networks with researchers working in the field |
| Year(s) Of Engagement Activity | 2011 |