“We only did it because he asked us”: Gendered accounts of participation in a population genetic data collection

Abstract

This article draws upon findings from an interview study with twenty-three families about participation in a large-scale population genetic database called, “Generation Scotland: The Scottish Family Health Study” (GS: SFHS). GS: SFHS aspires to become a DNA identification vehicle for the discovery of genetic contributions to diseases that affect the Scottish population e.g., cancer, heart disease and mental illness. Little is known about why families invited to take part in this type of research do so, especially when a family member is acting as a ‘proxy’ recruiter and is healthy with no known genetic (or otherwise) disease. Who will agree to be such a ‘proxy recruiter’ (or ‘proband’), who GS: SFHS will recruit and why has been shown to be dependent on the existence of family disease, proband use of indirect and direct coercion, and the status of family relationships more generally. This study adds to these findings demonstrating that participation is limited by family history affecting the numbers of family members who can be recruited and enhanced by gender affecting who will be recruited. Although not mutually exclusive, the reasons for participation by probands were tied to leaving a ‘healthy legacy,’ whereas for the family members it was because they were asked and felt obliged to or were persuaded to by the proband. This research concludes: 1) biology is a choice not a given; 2) yet the biological basis of family relationships can give rise to a gendering of recruitment to the clinical study; and 3) women continue to be ‘kin-keepers’.

Introduction

Little is known about the experiences and motivations of healthy families who are approached and subsequently agree to participate in population genetic data collection studies. “Generation Scotland: Scottish Family Health Study” (henceforth GS: SFHS) is an example of a large-scale population genetic database that aspires to become a gene identification vehicle into diseases that affect the Scottish population e.g., cancer, heart disease and mental illness. GS: SFHS differs from other genetic population data collections, such as UK Biobank, because in order to discover possible candidate genes for these diseases it recruits families, especially siblings and parents (Smith et al., 2006). UK Biobank, on the other hand, recruits individuals in order to assess how these genes may interact with lifestyle factors (for further information on the relationship between the two studies see http://www.ukbiobank.ac.uk/docs/GenerationScotlandandUKBiobank-twostudiesexplained.doc). The emphasis for GS: SFHS is on biological and genetic relationships; mother, father, brother, sister, child, aunt, uncle, etc. but not partners (unless they were to recruit their ‘side’ of the family). Family-based studies are considered the gold standard of such research because they avoid the problem of association studies, namely that of population stratification whereby an association is caused not by the underlying structure of the population and not an actual disease association (Carey, 2003). GS: SFHS uses popular understandings on its web-site about the genetic inheritance of disease to communicate the concept that disease often ‘clusters’ in families; “It's in the family. My auntie had it and so did my granddad. Now my brother's gone down with it. What about me and my children?” (http://129.215.140.49/gs/gindex.html). The identification of possible genes in order to establish heritability of common complex diseases depends upon 15 000 families taking part in the study, providing a sample of their DNA, completing a lifestyle questionnaire and allowing researchers access to their medical records throughout their lifetime. Families with large numbers of siblings are expected to increase the statistical power of the study to make confident predictions about the possible genes responsible for a particular disease. So, the ‘ideal family’ for GS: SFHS is one whereby an individual recruits two, but ideally more, siblings and both parents.

Yet little is known about why families invited to take part in this type of research do so, especially in cases when a proband is acting as a ‘proxy’ recruiter and is an apparently healthy volunteer with no known genetic (or otherwise) disease. The issues of whether the proband will participate, who they will recruit and why, have been shown to be dependent on factors such as whether there is a particular disease affecting the family and therefore the possibility of beneficial therapies or treatment; whether trust was established with the researcher; the existence of indirect and direct coercion; and the status of family relationships more generally (Kreiger et al., 2001, Sorenson et al., 1996). These results are from studies that have been conducted in the United States with families affected by specific diseases such as cancer or cystic fibrosis and researchers suggest participation is strongly encouraged by therapeutic benefits to the proband and their family (Kreiger et al., 2001: 222). The situation is different with GS: SFHS as the probands are ostensibly healthy volunteers and there are no obvious or guaranteed therapies required by, or offered to, the healthy participants. This study therefore seeks to fill the current knowledge gap by contributing to a greater understanding of the motivations and experiences of participation, bearing in mind that ‘participation’ itself is often a phenomenon that is variable both in level and commitment (Haimes & Whong-Barr, 2004).

Recruiting family members affected by specific diseases (or not) poses ethical and social difficulties both for the researchers involved and the family members they wish to recruit. GS: SFHS has made efforts to tackle ethical issues relating to the i) feedback of information to participants and protection of their confidentiality and ii) the use of indirect or direct coercion within the family. If participants do take part they are offered a limited amount of clinical feedback such as body mass index, and levels of blood pressure and cholesterol. However, GS: SFHS stresses that this does not constitute a health check. Neither will GS: SFHS provide any information about paternity to participants, and to date there have been no cases of undisclosed paternity relationships within GS: SFHS data (Macleod, personal communication, 2009). In addition, in order to avoid any perceived breaches of confidentiality or inappropriate contacts GS: SFHS does not ‘cold call’ possible participants. GS: SFHS researchers ask General Practitioners (G.P.) to contact healthy and willing individuals aged 35 years and over from their practice lists. The G.P. identifies the family member (known as a ‘proband’) to take part on behalf of GS: SFHS whilst simultaneously screening out any possible ineligible individuals. The G.P. writes to the proband, outlining the main aspects of GS: SFHS, emphasising the nature of the study and the importance of recruiting siblings. If willing, only then does the individual then contact GS: SFHS nurses for further information and to indicate their willingness to introduce the research to their family. The extent to which GS: SFHS researchers can ensure the voluntary nature of participation and protect participants from indirect or direct coercion in the family is limited to the contact they have with the family member. That is, GS: SFHS personnel remind participants on several occasions during the recruitment process that they can withdraw at any time. However, giving the participants the opportunity to withdraw does not mean that they can, or will, take it.