Family history tools for primary care: A systematic review

Figures & data

Table 1. Inclusion and exclusion criteria.

Inclusion criteria	Exclusion criteria
Original articles without any language restrictions Primary focussed on the development of the new FH tool An attempt is made to validate the FH tool on at least one aspect of the ACCE framework (validity and utility) The tool is applicable for either multifactorial (cardiovascular disease, diabetes and cancers) or one-factorial disorders (e.g. cystic fibrosis)	Systematic reviews, editorials, letters, opinions and unpublished studies The purpose of the FH tool is an only research use Articles describing a simple family history question (‘does this disease run in your family’?) Screening tool for detection of risk factors other than family history Paediatric and maternity FH tools

FH: family history; ACCE: analytical validity, clinical validity, clinical utility and ethical/legal/social implications

Table 2. Description of the ACCE (analytical validity, clinical validity, clinical utility and ethical implications) framework^a elements, its meaning and data extraction.

Framework elements	Meaning	Data extraction
Analytical validity	An indicator of how accurately is the data reported (e.g. accurately reported illness in relatives, such as their relatedness, disease and age of onset)	Analytical sensitivity and specificity and described the comparator Other indicators that show that the data is accurate (e.g. repeated tests)
Clinical validity	Information how accurately the tool predicts disease risk	Clinical sensitivity and specificity and described the comparator Other indicators that show that the tool predicts the disease (agreement shown with kappa value)
Clinical utility	Potential benefits provided by using the FH tools	Identification of increased risk shown by the FH tools Behavioural or other improvements (e.g. new diet implementations and regular self-exam)
Ethical, legal and social implications	Issues with FH tool that might negatively affect patients, families and society	Psychological harm (e.g. scores on anxiety symptoms before and after the use of FH tool)

^aBased on Yoon et al. [15] and adapted from Mishara and Weisstub [14] and Valdez et al. [7].

FH: family history.

Figure 1. The selection process of included studies.

Table 3. Main results: items included.

Tool’s name	Personal health history	Health history of first-degree relative	Health history of second-degree relative	Health history of third-degree relative	Age relatives start of disease	Data on ethnicity	Health behaviour
1. Generic/multifactorial
1.1. Computerised/web based
Family Healthware^™ [18]	X	X	X		X		X
VICKY [19]	X	X			X
MeTree [20]	X	X	X	X	X		X
Walter's FHQ [21]		X	X	X	X	X
1.2. Paper-based
Qureshi's FHQ [22]	X	X	X		X	X
Emery's FHQ [23]		X			X
2. Single disease
2.1. Computerised/web based
RAGs [24]		X	X	X	X
FHAT [25]		X	X	X	X
Self-administered Q [26]		X	X		X	X
GRACE [27]		X	X		X
GRAIDS [28]	X	X	X	X	X	X
CRA Health [29]	X	X	X	X	X
Online Referral test [30]	X	X	X		X
D&Q-based Web Interfaces [31]		X	X	X	X
2.2. Paper-based
Leggat’s FHQ [32]		X			X
Houses’s FHQ [33]	X	X			X
FCAT [34]		X	X	X	X
PAT [35]		X	X	X	X	X
A 21-Item FHQ [36]	X	X	X		X	X
FH Form [37]		X	X		X
FH-7 Q [38]		X	X	X	X
RST [39]	X	X	X	X	X	X
Pieper’s FHQ [40]		X			X
Niendorf’s FHQ [41]		X	X	X	X
A 4-Item Q [42]		X	X		X
STELO [43]	X	X	X		X

WICKY: Virtual Counsellor for Knowing Your Family History; FHQ: Family History Questionnaire; RAG: Risk Assessment in Genetics; FHAT: Family History Assessment Tool; GRACE: Genetic Risk in the Clinical Environment; GRAIDS: Genetic Risk Assessment in an Intranet and Decision Support; CRA health: cumulative risk assessment health. D&Q-based: Diagram and Questionnaire-based; FCAT: Familial Cancer Assessment Tool; PAT: Pedigree Assessment Tool; RST: Referral Screening Tool; STELO: Sindromi dei Tumori Ereditati Lynch e Ovaio/mammella.

Table 4. Main results: clinical value.

Tool’s name	Condition	Timing	Patient administration	EMR integration	Risk- assessment	Evidence-based recommendations	Evaluation on diagnostic performances
1. Generic/multifactorial
1.1. Computerised/web based
Family Healthware^™ [18]	BB, OC, CC, CHD, diabetes and stroke	20 min	Yes	No	Yes	Yes	Inadequately assessed agreement (30–35 vs. 32–33%)^a
WICKY [19]	various	15-30 min	Yes	No	No	No (PDF pedigree)	Acceptable analytical validity for FDR only (86% for FDR, 42% for SDR), inadequately assessed agreement (49 vs. 31%)^b
MeTree [20]	98 diseases	20-27 min	Yes	Yes	Yes	Yes	NA
Walter's FHQ [21]	BC, CC, Diabetes, IHD	15-30 min	Yes	No	Yes	Yes	Good/acceptable sensitivity and specificity scores (81–98%)
1.2 Paper-based
Qureshi’s FHQ [22]	various	NA	Yes	No	Yes	No	Acceptable and adequately assessed agreement in overall (κ = 0.52; 95% CI 0.40–0.64) and good agreement in premature CHD (90%; κ = 0.67; 95% CI 0.49–0.85)
Emery’s FHQ [23]	various	9 Items	Yes	No	Yes	Yes	Acceptable sensitivity (95%) and low specificity (54%)
2. Single disease
2.1. Computerised/web based
RAGs [24]	BC and OC	NA	No	No	Yes	Yes	Good and inadequately assessed agreement^c (median no. of correct referrals: 6 and pedigrees: 4)
FHAT [25]	BC and OC	NA	No	No	No	No	Good sensitivity (94%) and poor specificity (51%)
Self-Administered Q [26]	BC and OC	NA	Yes	No	Yes	Yes	Adequately assessed low agreement (ICC = 0.63)
GRACE [27]	BC	NA	Yes	No	Yes	Yes	NA
GRAIDS [28]	BC, OC, CC and EC	28 min	No	No	Yes	Yes	NA
CRA Health [29]	hBC and hOC	NA	Yes	No	Yes	Yes	NA
Online Referral test [30]	Lynch syndrome	NA	Yes	No	Yes	Yes	Good sensitivity for affected Lynch syndrome carriers (91%), poor for affected and non-affected carriers (73%)
D&Q-based Web Interfaces [31]	CC	D = 81 s Q = 81 s	Yes	No	Yes	Yes	NA
2.2. Paper-based
Leggat’s FHQ [32]	BC and CC	NA	Yes	No	Yes	Yes	Acceptable and adequately assessed agreement for BC (ICC = 0.58), but not for colon (ICC = 0.80)
Houses’s FHQ [33]	CC	NA	Yes	No	Yes	Yes	Good/acceptable and inadequately assessed agreement (5% discrepancy from the CC prevalence)^d
FCAT [34]	BC	10 min	Yes	No	Yes	Yes	Good sensitivity (93%), acceptable specificity (83%)
PAT [35]	hBC	NA	No	No	Yes	Yes	Good sensitivity (100%), specificity (93%)
A 21-Item FHQ [36]	Cardiovascular	15 min	Yes	No	Yes	No	NA
FH Form [37]	BC, OC and CC	NA	Yes	No	Yes	No	NA
FH-7 Q [38]	BC	7 items	Yes	No	Yes	Yes	Acceptable and adequately assessed agreement (ICC = 0.84), acceptable sensitivity (87.6%) and poor specificity (56.4%)
RST [39]	hBC and hOC	NA	Yes	No	Yes	Yes	Good test-retest reliability (k = 0.75), acceptable sensitivity (81.2%) and good specificity (91.9%)
Pieper’s FHQ [40]	CC	3 items	Yes	No	Yes	No	Inadequately assessed analytical validity^e
Niendorf’s FHQ [41]	Hereditary cancers	7 items	Yes	No	Yes	Yes	Acceptable and adequately assessed agreement (ICC = 0.87)
A 4-Item Q [42]	CC	4 items	No	No	NA	NA	Good agreement (k = 0.82), but inadequately assessed^f analytical validity for first item only (others could not be assessed)
STELO [43]	Inherited cancer syndromes	9 items	Yes	No	Yes	Yes	Acceptable and inadequately assessed^g agreement (ICC = 0.77) and acceptable sensitivity (88.5%) and poor specificity (52.3%)

NA: not assessed; BC: breast cancer; hBC: hereditary breast cancer; CC: colorectal cancer; OC: ovarian cancer; EC: endometrial cancer; CHD: coronary heart disease; FDR: first-degree relative; ICC: interclass correlation coefficient; Κ: kappa value; WICKY: Virtual Counsellor for Knowing Your Family History; FHQ: Family History Questionnaire; RAG: Risk Assessment in Genetics; FHAT: Family History Assessment Tool; GRACE: Genetic Risk in the Clinical Environment; GRAIDS: Genetic Risk Assessment in an Intranet and Decision Support; CRA health: cumulative risk assessment health. D&Q-based: Diagram and Questionnaire-based; FCAT: Familial Cancer Assessment Tool; PAT: Pedigree Assessment Tool; RST: Referral Screening Tool; STELO: Sindromi dei Tumori Ereditati Lynch e Ovaio/mammilla; MFHP: My Family Health Portrait.

Notes. ^aCompared with risk-stratifaction. ^bCompared with MFHP. ^cHypothetical cases. ^dcompared with NCRAS (172 vs. 260 per 100,000 patients). ^eEvaluation of an uptake of the questionnaire as a comparator. ^fgeneral practitioners' responses. ^gCompared to the clinical records.

Table 5. Recommended tools for primary care and personal use.

FH tool	Time to complete	Patient administration	EMR integration	Risk- assessment	Recommendations	Validity
1. Generic/multifactorial
1.1. Computerised/web based
Walter’s FHQ [21]	X	X	–	X	X	X
1.2. Paper-based
Emery’s FHQ [23]	X	X	–	X	X	X**
2. Single diseases
2.1. Paper-based
FCAT [34]	X	X	–	X	X	X
PAT [35]	–*	–	–	X	X	X
FH-7Q [38]	X***	X	–	X	X	X**
RST [39]	–*	X	–	X	X	X
Niendorf’s FHQ [41]	X***	X	–	X	X	X
STELO [43]	X***	X	–	X	X	X**

*Not assessed. **: acceptable sensitivity, low specificity. ***: only the number of item reported.

FH: family history; FHQ: Family History Questionnaire; FCAT: Familial Cancer Assessment Tool; PAT: Pedigree Assessment Tool; RST: Referral Screening Tool; STELO: Sindromi dei Tumori Ereditati Lynch e Ovaio/mammilla; EMR: Electronic Medical Records.

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