• Project Dates: From October 2008 to May 2012
• Project Leader: Janice McLaughlin
• Staff: Emma Clavering, Erica Haimes, Michael Wright
• Sponsors: Economic and Social Research Council

Project Aims

To study the interrelationships between paediatric genetics, symbols of family identity, and narratives of future life. In particular the project looked at:

• Diagnostic encounters over time.
  
  
• The varied narrative and practical resources families, including children, draw upon when managing uncertainty during and after diagnosis.
  
  
• The long term consequences of living with or without a diagnosis for children, their families and wider social networks.
  
  
• The potential for symbolic articulations of family life to be transformed in meaning and value via their involvement in diagnostic processes.
  
  
• The potential for genetic information and possibilities to be incorporated into kinship accounts and networks.

Methodology

• Ethical approval from the Local Research Ethics Committee of the NHS National Research Ethics Service.
  
  
• The approach was to follow families through the ‘journey’ they undertake when a child is referred to a genetic service. With some that meant being with them from the early stages and going along part of the journey with them, with others it meant reflecting back on experiences of past referrals. Within each family we included a variety of family members.
   

• Our work with families involved:
  • A series of qualitative interviews over time.
  • Observations of clinical consultations when geneticists first met a child and where findings from tests were discussed.
  • Observations of family life at home or in a range of public spaces.
  • Creative work with the children and young people where they were offered art and note books to help encourage self-expression.

• A total of 26 families participated in the study. This included:
  • 44 adults (38 parents, 2 aunts, 3 grandmothers, and 1 grandfather) who each undertook up to three interviews with us.
  • 27 children (aged between 5 months and 18 years old) who we observed either in clinic consultations or in their everyday life.
  • 9 children who agreed to be interviewed, 5 of whom had been referred to the genetics clinic, and 4 siblings. They were aged between 9 and 18 years old.

Key Findings

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.

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.

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.

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.

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.

Dissemination

Academic Outputs

McLaughlin, J.; Coleman-Fountain, E. & Clavering, E.C. (2016) Disabled Childhoods: Monitoring Difference and Emerging Identities. London: Routledge. Special series, Advances in Disability Studies

McLaughlin, J. (2016) Genetics, childhood development and kinship, In: Lenore Manderson, Elizabeth Cartwright, Anita Hardon (eds.) The Routledge Handbook of Medical Anthropology. London: Routledge 

McLaughlin, J. (2012) Understanding disabled families: Replacing tales of burden with ties of interdependency, In: Nick Watson, Carol Thomas and Alan Roulstone (eds.) Routledge Companion to Disability Studies. London: Routledge. 402-413. AVAILABLE OPEN ACCESS VIA NEWCASTLE UNIVERSITY E-PRINTS

McLaughlin, J. (2015) Family ties in genes and stories: The importance of value and recognition in the narratives people tell of family. The Sociological Review. 63(3): 626–643, http://onlinelibrary.wiley.com/doi/10.1111/1467-954X.12223/full OPEN ACCESS

McLaughlin, J. (2014) Digital imagery and child embodiment in paediatric genetics: Sources and relationships of meaning, Sociology. 48(2): 216-232 doi:  10.1177/0038038512472774. AVAILABLE OPEN ACCESS VIA NEWCASTLE UNIVERSITY E-PRINTS 

McLaughlin, J. and Clavering, E.K. (2012) Visualising Difference, Similarity and Belonging in Paediatric Genetics. Sociology of Health and Illness. 34(3): 459–474. http://onlinelibrary.wiley.com/doi/10.1111/j.1467-9566.2011.01388.x/abstract OPEN ACCESS

McLaughlin, J. and Clavering, E.K. (2011) Questions of Kinship and Inheritance in Pediatric Genetics: Substance and Responsibility. New Genetics and Society, 30(4), 399-413. OPEN ACCESS AVAILABLE VIA NEWCASTLE UNIVERSITY E-PRINTS

Clavering, E. K. & J. McLaughlin, (2010) Children's participation in health research: from objects to agents? Child: care, health and development, 36(5), 603-11. OPEN ACCESS AVAILABLE VIA NEWCASTLE E-PRINTS

Conference Organisation

2012

‘Medical and scientific understandings of childhood difference: Framings, Representations and Imaginaries’, PEALS International Spring Symposium, March. symposium programme 2012 (PDF 368KB)

Invited Talks

2016

McLaughlin, J. Kinship and Childhood Disability: Exploring Shared Memories of the Past and Present, Society for the Study of Childhood in the Past, Annual Conference Durham University, September.

2014

McLaughlin, J. ‘Family ties in genes and stories’, Department of Anthropology, Otago University, February. 

2013

McLaughlin, J. and Clavering, E.K. ‘Family connections in genes and stories’ New Families and Genetic Identities: Developments in law, policy and research, London School of Economics, June. 

McLaughlin, J. ‘Who is Family?’ The Ethics of Family Involvement in Healthcare Conference, Centre for Bioethics, Singapore University, February

McLaughlin, J. ‘About Care and Family’, The Ethics of Family Involvement in Healthcare Conference, Centre for Bioethics, Singapore University, February.

McLaughlin, J. ‘Social/cultural aspects of genetic testing and diagnosis’, Genetics, Genomics and Changing Understandings of Nature/Nurture: An Interdisciplinary Workshop, University of Leeds, May.

McLaughlin, J. and Clavering, E.K. ‘Families’ experiences of paediatric genetics: Findings from a sociological study’, Association of Genetic Nurses and Counsellors, Spring Meeting, Collingwood College, Durham, April. 

2011

McLaughlin, J. 'Families’ experiences of paediatric genetics: Findings from an ethnographic study'. British Society for Human Genetics Conference, 5th – 7th September, Warwick University

McLaughlin, J. ‘Potential familial and patient responses to gene therapy: lessons from current genetics provision in healthcare’ TREAT-NMD 2011 International Conference, Geneva, Nov.

McLaughlin, J. The co-location of digital imagery and embodiment in paediatric genetics, CESAGEN, Cardiff University, 21st of June

Clavering, E.K. Thanks for asking’: What research with children can tell us about self, family, and health, Joint Childhood Studies Group / Culture, Imagination & Practice Research Group / CESAGEN Seminar, Cardiff University. June.

2010

McLaughlin, J. ‘Working across disciplinary and institutional boundaries in health and social research.’ BSA Regional Postgraduate Workshop: Bridging the Gap: Translating knowledge into action in Health and Social Research. Newcastle University. 3rd June.

2009

‘Modes of care and mothering: How does citizenship and care intersect in the lives of mothers of disabled children’?, ESRC Seminar Series ‘Parenting Cultures’, University of Kent, January

McLaughlin, J. Parental perspectives on evidence: When are parents experts?, European Academy of Childhood Disability, Vilnius, Lithuania, June.

Conference Presentations

2012

McLaughlin, J. Wright, M., Haimes, E. and Clavering, E. Social and Ethical Implications of Families’, Experiences of Paediatric Genetics: Key findings from a UK qualitative study exploring families’ expectations, their responses to diagnosis and their approach to managing the uncertainties of genetic investigations, Poster Presentation, American Society for Human Genetics Conference, San Francisco, November

McLaughlin, J. Wright, M., Haimes, E. and Clavering, E. ‘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, 15th-16th March, Newcastle

2011

Clavering, E. and McLaughlin, J. ‘Visualising Genetics: Modes of diagnosis and interpretation in the troubling body within paediatric genetics.’ ESA. Sept.

2010

McLaughlin, J. and Clavering, E. ‘Othering and Recognition in Paediatric Genetics’ Child, Family and Disability, 28th April, Manchester Metropolitan University.

Clavering, E. and McLaughlin, J. ‘A Crisis in the Genes? Children and young people’s responses to processes of medical labelling through paediatric genetics’, European Association of Social Anthropology (EASA) 2010: Crisis and Imagination, 24th – 27th August, Maynooth, Ireland.

McLaughlin, J. and Clavering, E. ‘Visualising Genetics: Modes of diagnosis and interpretation in the troubling body within paediatric genetics’, The European Association for the Study of Science and Technology (EASST) 2010: Practicing Science and Technology, Performing the Social, 2nd – 4th Sept, University of Trento, Italy.

McLaughlin, J. and Clavering, E. ‘Narratives of Othering and Recognition in Paediatric Genetics’, Narratives of Health and Illness, 16th – 17th September, Uppsala University, Sweden.

2009

McLaughlin, J. and Clavering, E. ‘Unmaking Children: Exploring the dynamics of othering in disabled children’s lives’, Diverse childhoods in international contexts: gender and other social and cultural differences', Second International Conference on Children, Youth & Families, University of Barcelona, July.

Clavering, E. and McLaughlin, J. ‘Ethnographies of Genetic and Kinship Imaginaries’, Vital Politics III, London School of Economics, Sept.

McLaughlin, J. and Clavering, E. ‘Ethnographies of Genetic and Kinship Imaginaries’, Society of Medical Anthropology, Yale, Sept.

Project Public Engagement Materials and Activities

Interview on Family Ties and Inheritance,  Thinking Allowed, BBC Radio 4, 1st of April 2015, http://www.bbc.co.uk/programmes/b05nvjhp 

McLaughlin, J. (2012) What does genetics bring to understanding differences in childhood development? Café Scientifique, Newcastle, November. 

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.