'Coming Down the Line'-- Patients' Understanding of Their Family History of Common Chronic Disease

Abstract

PURPOSEThe family history is becoming an increasingly important feature of health promotion and early detection of common chronic diseases in primary care. Previous studies of patients from genetics clinics suggest a divergence between how persons with a family history perceive and understand their risk and the risk information provided by health professionals. This interview study aimed to explore how patients in primary care understand and come to terms with their family history of cancer, heart disease, or diabetes and how family history might affect consultations about disease risk and management.METHODS Thirty semistructured interviews were conducted with general practice patients who had a family history of cancer, heart disease, or diabetes. The transcript data underwent a qualitative constant comparative analysis. RESULTSWhat exactly constitutes having a family history of an illness varied among participants. The development of a personal sense of vulnerability to the illness in the family depended not only on the biomedical approach of counting affected relatives but also on a sophisticated interplay of other factors. The emotional impact of witnessing the illness in the family, particularly if the illness was sudden, premature, or fatal, and the nature of personal relationships within a family that determine a sense of emotional closeness and personal likeness with the affected relative, all contributed to the perception of disease risk. Different beliefs about the contributions of nature and nurture to disease can affect patients' views on the degree of control they can exert over their risk.CONCLUSION This study highlights potential differences between the way patients and medical professionals assess and understand familial risk of cancer, heart disease, and diabetes. Our previous systematic review fi ndings are enhanced by showing that personal experience of disease and the emotional impact can also infl uence familial risk perceptions. Eliciting the patient's perspective when discussing risk of chronic disease, particularly in the context of a family history, could inform a more patient-centered approach to risk assessment and communication and support patients to make informed decisions about the management of their disease risk.

Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

“…As also observed by other studies (Walter et al, 2004, Walter & Emery, 2005, Senior et al, 2002), participants in our study made sense of the severity of their risk by comparing thrombophilia with other genetic and non-genetic conditions, by reflecting on their personal, embodied experience of a DVT, and by assessing their family history of DVTs. Our findings indicate that in a situation, where the illness is not perceived as most threatening, where it is associated with a definable and preventable environmental trigger, and where the susceptibility only rarely manifests itself in ubiquitous family stories or personal experiences of serious illness, a genetic risk factor is not interpreted as exceptional or grave.…”

“…Hunt, Emslie & Watt, 2001;Walter et al 2004;Walter & Emery, 2005). Risk perceptions are also affected by personal, embodied experience of the illness, such as breast cancer (Hallowell et al 2004).…”

Factors influencing consultation to discuss family history of cancer by asymptomatic patients in primary care

“…Their perceived vulnerability may be based on the burden of cancer in the family rather than on the hereditary nature of a faulty gene or a family history. Other studies also reported this factor as an important triggering factor in considering personal risk and vulnerability (Evans et al 1993;McAlister 2003;Rees et al 2001;Walter and Emery 2005). Individuals' perceived vulnerability to a familial condition was defined and heightened by their experience of going through the illness with their affected relatives, and/or demise of their close ones.…”

“…Some studies also explored lay understanding of familial risk of cancer and found that individuals' perceived risk and/or vulnerability was based on the burden of disease, i.e. experience of disease or living with the disease and severity of illness of close relatives, rather than on family medical history or the hereditary nature of a faulty gene (McAlister 2003;Walter and Emery 2005). For some individuals, knowledge that 'it (the disease) runs in the family' was largely based on information such as the number of affected relatives, ages at diagnosis or death and patterns of ages or sex.…”

Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)

“…16 The barriers experienced by the AOCS research participants in accessing an FCC are likely to be compounded by the dissimilarities to the 'standard' patient population traditionally cared for by cancer genetic services. Participants who may not have personal or family experience of cancer, have not experienced family discussions about diseases 'coming down the line' 17 and who receive a letter unexpectedly informing them of the availability of genetic information may not be able to articulate or personally advocate to genetic staff about why they need an appointment. They are unlikely to be able to tell the frontline staff at an FCC or a genetic health professional that a pathogenic mutation has already been identified in their family through a research study, and therefore, there exists a clinical imperative for confirmatory genetic testing in an expedient manner.…”