Families and family relationships are overwhelmingly complex, with unconventional networks of relationships built up as a result of marriages, divorce and separation, remarriage, and combined families. Whilst the definition of ‘family’ is multiplex, people are always conscious of their connections to others, whether good or bad, and some of these connections carry more weight than others (Carsten, 2000).
Family structure is both culturally and socially located (Oltedal & Nygren, 2014). It is defined by gender, education and marital status (Wall & Gouveia, 2014) and shaped by governmental policies: the social problems of one era set the agenda for the next (Shanahan, 2005). For many, the concept of ‘family’ is based around the group of individuals into which we are born: parents and children forming the core unit (Oxford English Dictionary).
This means that family relationships have different meanings to different people: family may include non-kin whilst excluding relations who have a negative role or low levels of contact (Wall & Gouveia, 2014). Therefore the definition of family is varied and is constantly under construction and so may be described in different and sometimes contradictory ways. In genetics and modern genealogy, family trees are based around relationship through blood or marriage, and it is this definition of family that will be used throughout this study.
This thesis describes a study in which the two similar yet contrasting areas of genetic counselling and genealogy are brought together through the commonality of the family tree. In genetics, the family tree (pedigree) is a graphic representation of the family and used to assess the genetic disease risk of the patient attending clinic, and also their relatives. It is also used to aid the understanding of different social constructions and complexities within the family(Bennett, 2011).
Similarly, in genealogy, the family tree is the diagrammatic representation of family relationships. The symbols used in clinical pedigree drawing has been standardised (Bennett et al, 2008), and shares many similarities with the family trees drawn in genealogy in terms of representation of gender, links between offspring and parents, and between siblings, however clinical pedigrees contain additional information relating to the inherited condition in the family.
The key difference is that the clinical family tree is based upon three generations (Wattendorf & Hadley, 2005), whereas the genealogical family tree is extended as far back as it is possible, with some families tracing their ancestry back to the 16th century. Whilst clinical genetics and genealogy share a core component, management of the information within the two areas is very different. Clinical pedigrees document sensitive information which is collected and maintained in accordance to strict codes of practice which are there to protect the confidentiality and privacy of each individual within the family.
By contrast, the information obtained to compile a genealogical family history has few restrictions and is accessible from public records offices. On-line sharing and compiling of family trees is now commonplace, and requires no consent from family members. This study aims to explore the tensions created and resolved when inherited health information emerges during the course of genealogical research and how this information is managed away from clinical input.
The National Society of Genetic Counsellors (NSGC) states that genetic counselling is a process which helps people to understand the implications of the genetic contributions to disease (education) and provides a supportive framework to allow the patient adapt to the implications of these genetic contributions (counselling) (Resta et al, 2006). The process involves the interpretation of family history to assess the risk of the disease occurring, the provision of information regarding inheritance, genetic testing, medical management (such as screening), outside resources which the patient may choose to nvestigate for further information and peer-support and possibilities relating to research participation. Finally, nondirectional counselling is provided to the patients in order for the patient to make informed choices which fit with their own belief systems and values in a safe and non-judgemental environment, and to aid with adaptation to the individual’s risk or condition (Resta et al, 2006; Uhlmann et al, 2011; Harper, 2012).
The terms ‘genetics’ and ‘genomic medicine’ conjure up images of advanced scientific technology, however, the core tool used in genetic medicine, as previously indicated, is still the family history. Family history is used to assess the familial transmission of inherited conditions through the process of interviewing patients about their own and their blood relatives’ medical histories. It is most useful to have a minimum of three generations (Wattendorf & Hadley, 2005), so this information ideally covers the grandparents of the patient (consultand) and any children or grandchildren.
The family history interview also gives access to psychosocial issues, such as discord within the family, which may need to be addressed at some point, particularly in terms of sharing genetic risk information or genetic test results. The family history is a cheap, quick and efficient way of collecting medical data in which large numbers of individuals from a family can be screened and the information they contain provides the foundation upon which genetic testing occurs, and may help in the diagnosis of a condition.
At present, genetic counselling mostly focuses on specific diseases associated within a family, primarily chromosomal and Mendelian single-gene disorders such as Huntington’s disease (autosomal dominant inheritance), cystic fibrosis (autosomal recessive inheritance) and haemophilia (xlinked inheritance) as opposed to the more complex diseases such in which there are complex gene-gene and geneenvironment interactions, such as heart disease, type 2 diabetes and psychiatric disorders such as schizophrenia and alcoholism (Dawson et al, 1992).
These common conditions are, however, seen in genealogical health initiatives (see Family Health History section below).