Table 2.

Grid Displaying First-Order Constructs (Key Concepts) Grouped Within Emerging Second-Order Constructs (Main Themes), by Study and Disease

Mean Appraisal Score* (Range)Diseases in My FamilyExperience of Relative’s IllnessPersonal Models of DiseasePersonalizing RiskControl of Familial Risk
FH = family history; FDR = first-degree relative; HD = heart disease; DM = diabetes mellitus.
* Total score = 36.
† Pilot scores - consensus.
Brorsson et al, 1995; hypercholesterolemia (HD) 22
19“My family gets heart attacks.” Including nongenetic family membersPerceived threat inherent in the association between hypercholesterolemia and the event in the FH
Seriousness associated with fatal events, disability, and premature deaths
Time lag since FH of event less important
Chalmers & Thompson, 1996; cancer (breast) 23
23“Walking in relative’s path”“Living the cancer experience”“Developing a risk perception”: comparing aspects of personality, lifestyle, and body type; appraising own threatening experiences with breast abnormalities; personalizing the risk, variable, intuitive or reasoned“Putting risk in its place”: controlling what one can; rehearsing one’s own cancer; “finding the best time” as emotional control over risk perception; adopting self-care practices
Amount of sharing of cancer experience: close attachment leads to greater shared experience
Phase and variability of illness trajectory: complicated illness leads to greater salience
Witnessing suffering: the physical and psychosocial impact
Emery et al, 1998; cancer (colorectal) (CRC) 24
26.25Understanding genetics differs from scientific explanationReconstructed risk according to personal and family experiences, and personal understanding of inheritancePersonalization of risk provides framework for control of own and family member’s risk
“Risk framework” allows person to combine genetic and environmental risk and assess risk to offspring
Green et al, 1993; cancer (ovarian) 25
18.3 (17–19)Ovarian cancer “in the family”Awfulness of mother’s disease, rather than personal risk, especially among women whose mothers had recently diedIdiosyncratic use of genetic termsDominant concept of proneness or vulnerability, especially to illness experienced by close relative of same sexLack of control, powerless
Relatively young age and dependent children of affected relatives particularly upsettingPersonal experience showed ovarian cancer likely to prove fatal if not detected earlyLittle understanding of genetic component of risk; also due to shared exposure to common risk factorsSimilarities with unaffected parent could protectNo obvious controllable risk factors. Some considered removal of ovaries
Women whose mother had died recently showed more anxietyModels of familial disease did not follow Mendelian geneticsAsymptomatic phase of disease
Few realized ovarian cancer could pass through the male linePositive about screening: “has to be better than nothing”
Peaks and troughs of anxiety, eg, before screening, approaching age of diagnosis of relative
General fear of cancer. Concern for daughters
Harris et al,1998; CRC 26
22 (21–23)At risk if relative (not just FDR) had had CRC despite relative’s age. Magnitude of family history and death of relative increase seriousness of FHDeterminants of risk: genetic predisposition, environmental risks, increasing age, other cancer, low-fiber diet, “bad luck.” Concept of risk factors that trigger cancer, such as sunlight, constipation, pollution, shockPerceived personal susceptibility due to FHScreening seen as effective, although there was limited understanding
Variable access to family history informationFear and older age were barriers to screening
Hunt et al, 2000; HD 27
25.3 (23–27)HD viewed as family condition, with perceived FH more than number of cardiac events in familyEven with several affected relatives, some thought HD due to chance. All mentioned heredityDistinction made between inherited risk within family as a whole and personal riskFactors encouraging more healthy behavior: bodily markers of decline, health events, having children, financial stimuli, and enjoyment
Relationships, ages, and pattern of death add to importance, with age at death always mentionedComplex mechanism: biological and socialStressed differences from affected relatives to downplay riskBarriers to change: uncertainty, image of HD as “a good way to go,” past material and cultural circumstances, costs, time constraints, lack of motivation
Variable notion of premature death, and variable amount of FH information availableNotions of candidacy
Effects of gender and social classCardiac deaths of elderly relatives often discounted. Counter examples discussed, eg, fit young relatives “dropping dead”
Hunt et al, 2001; HD 28
17.5 (17–18)Number of affected relatives, their age, and relationshipGenes or heredity mentioned as cause by more than 2/3Distinction made between inherited risk within family as a whole, and personal riskOften highly ambivalent about FH
More weight given to deaths in FDRs, especially parentsDeath of one (or more) relatives could be due to chanceStressed differences from affected relatives to downplay risk, eg, smoking, taking after other side of family.Many continue wrestling with decisions about modifying behavior, especially weight and effects of age
Patterns of death, eg, age of deathSearch for patterns to indicate heredity, eg, number of relatives with HD on one side of family
Variable notion of premature death
Men from manual socioeconomic groups required greater number of affected relatives to perceive FH
Incomplete knowledge of FH could lead to ambivalence
McAllister et al, 1998; cancer (breast) 29
22 (22)Awareness that breast cancer may be inheritedClose involvement often distressingAwareness of inheritanceUsed inheritance of other characteristics, often following gender-specific pattern, to explain why not at personal riskContinuing anxiety, especially about own and daughter’s risk
Variable access to family history information; often avoided. Men often excluded from female illness discussionsMultifactorial model: not attributed solely to inheritance, also environmental risks such as smoking(Potential) daughters at higher risk because of FH; no concerns about (potential) son’s healthAvoidance of, or exclusion from, discussions about breast cancer
“Girl’s problem,” which most men colluded with
Michie et al, 1996; cancer (colorectal: familial adenomatous polyposis) 30
25 (25)Young relatives die, undergo operations, or experience painMultifactorial models of genetic disease: all mentioned genes, although uncertainty about role; some aware of environmental causes.Proneness, vulnerability not a problemSome: “there is no problem”
“Genes as a black box.”Screening seen as aversive, but important: “a necessary evil,” “seeing is believing”
Lay models of Mendelian inheritanceVagueness about genetic testing: little evidence of informed decision making
Uncertainty of not being diagnosed
“Functional pessimism” to cope
Ryan & Skinner,1999; cancer (breast) 31
17.5 (17–18)FH a risk factor, although most did not appreciate differences in risk depending on age of relativeMultifactorial model: lifestyle risks almost equal to familial risk; high-fiber diet or stress may be more importantPersonalizing risk processScreening could cause cancer
Misunderstandings about risk factors: environmental toxins and drugs thought influentialProneness, vulnerabilityWanted thorough analysis of risk, then recommendations for lowering risk. Fewer than one half wanted to know genetic susceptibility status: many concerns. Risk modification by lifestyle changes welcomed
Feelings of fatalismDiscounted risk information if affected relative had protective characteristic or no risk factors
Shepherd et al, 2000; type 2 diabetes mellitus (AODM) 32
14 (13–15)Four generations of family had 14 affected family members. DM regarded as serious disease within familyWitnessing suffering of grandfatherCauses included chutney and germs contracted while in prisoner-of-war camp. Personal models of inheritance, such as youngest child, or alternate generations. Genetic information too complicated. Mental pictures of genesPhysical resemblance of family members linked to those thought likely to develop DM