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 Family	Experience of Relative’s Illness	Personal Models of Disease	Personalizing Risk	Control of Familial Risk
Brorsson et al, 1995; hypercholesterolemia (HD)22
19†	“My family gets heart attacks.” Including nongenetic family members			Perceived 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
26.25†			Understanding genetics differs from scientific explanation	Reconstructed risk according to personal and family experiences, and personal understanding of inheritance	Personalization 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 died	Idiosyncratic use of genetic terms	Dominant concept of proneness or vulnerability, especially to illness experienced by close relative of same sex	Lack of control, powerless
	Relatively young age and dependent children of affected relatives particularly upsetting	Personal experience showed ovarian cancer likely to prove fatal if not detected early	Little understanding of genetic component of risk; also due to shared exposure to common risk factors	Similarities with unaffected parent could protect	No obvious controllable risk factors. Some considered removal of ovaries
	Women whose mother had died recently showed more anxiety		Models of familial disease did not follow Mendelian genetics		Asymptomatic phase of disease
	Few realized ovarian cancer could pass through the male line				Positive 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; CRC26
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 FH		Determinants 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, shock	Perceived personal susceptibility due to FH	Screening seen as effective, although there was limited understanding
	Variable access to family history information				Fear and older age were barriers to screening
Hunt et al, 2000; HD27
25.3 (23–27)	HD viewed as family condition, with perceived FH more than number of cardiac events in family		Even with several affected relatives, some thought HD due to chance. All mentioned heredity	Distinction made between inherited risk within family as a whole and personal risk	Factors 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 mentioned		Complex mechanism: biological and social	Stressed differences from affected relatives to downplay risk	Barriers 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 available			Notions of candidacy
	Effects of gender and social class			Cardiac deaths of elderly relatives often discounted. Counter examples discussed, eg, fit young relatives “dropping dead”
Hunt et al, 2001; HD28
17.5 (17–18)	Number of affected relatives, their age, and relationship		Genes or heredity mentioned as cause by more than 2/3	Distinction made between inherited risk within family as a whole, and personal risk	Often highly ambivalent about FH
	More weight given to deaths in FDRs, especially parents		Death of one (or more) relatives could be due to chance	Stressed 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 death			Search 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 inherited	Close involvement often distressing	Awareness of inheritance	Used inheritance of other characteristics, often following gender-specific pattern, to explain why not at personal risk	Continuing anxiety, especially about own and daughter’s risk
	Variable access to family history information; often avoided. Men often excluded from female illness discussions		Multifactorial 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 health	Avoidance 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 pain	Multifactorial models of genetic disease: all mentioned genes, although uncertainty about role; some aware of environmental causes.	Proneness, vulnerability not a problem	Some: “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 inheritance		Vagueness 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 relative		Multifactorial model: lifestyle risks almost equal to familial risk; high-fiber diet or stress may be more important	Personalizing risk process	Screening could cause cancer
			Misunderstandings about risk factors: environmental toxins and drugs thought influential	Proneness, vulnerability	Wanted 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 fatalism	Discounted 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 family	Witnessing suffering of grandfather	Causes 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 genes	Physical resemblance of family members linked to those thought likely to develop DM

FH = family history; FDR = first-degree relative; HD = heart disease; DM = diabetes mellitus.

* Total score = 36.

† Pilot scores - consensus.