The approach was to follow families through the ‘journey’ they undertake when a child is referred to a genetic clinic. With some that meant being with them from those early stages and going along part of the journey with them, with others it meant reflecting back on previous experiences. Within each family we included a variety of family members. This included grandparents, aunts and uncles, close friends, siblings, and the children who had been referred themselves. Such investigations take considerable time, involving ‘watchful waiting’ and discussions with parents and others about family medical history, including the development of family trees and the sharing of family pictures. A significant percentage of children who go through this process will not receive a definitive diagnosis. This project will examine important questions around the interrelationships between paediatric genetics, symbols of family identity, and narratives of future life. What is the social significance of diagnostic encounters over time? What are the long term consequences of living with or without a diagnosis for children, their family as a whole and wider social networks? How is genetic information incorporated into kinship accounts? The dataset consists of 23 interviews from 11 families. The units under observation were families in the north of England who have a child who has recently or some years ago been seen by a genetic service within the NHS. Within each family we have recruited parents, carers, other significant family members and friends, siblings and the child referred themselves if they were 10 years old or over. This project took an ethnographic approach involving longitudinal narrative interviews with parent/carers, children who have been seen by the service, and wider family members and friends, alongside non-participant observation in both clinical settings and a range of family contexts. The research team followed families in the early stages of referral to a Paediatric Genetics Service, over an 18 month period. It also recruited further families with children referred to a Genetics Service at least 5 years ago and explored with them how they felt their lives had been affected by their encounters with the service - whether they received a diagnosis or not. The research has aimed to capture a range of experiences and understandings that will contribute to critical disability studies, the sociology of the family and social anthropology.

Data collection methods included longitudinal narrative interviews (up to 3 over 18 months), narrative Interviews, non-participant observations in clinic consultations and in family life settings and notebooks children used to make drawings and stories of their lives. Clinical consultations were observed when geneticists first met a child and where findings from tests were discussed. To get a sense of family life, we spent time informally with families at home or on trips to, for example, the supermarket or the cinema. We also offered art and note books to the children and young people to help encourage self-expression.