Family history tools for primary care are not ready yet to be implemented. A systematic review

Figures & data

Figure 1. Selection of articles after the literature search.

Table 1. Studies reporting on generic family history tools.

Ref. Tool	Diseases	Setting (n)	Description of tool: Type, user, data orientation	Description of tool: Risk- assessment included?	Description of tool: Management recommendations included?	Assessment: Validity	Assessment: Potential benefit
(15) MeTree	48 conditions	Primary care (n = 601)	Computerized, patient-completed, pedigree-oriented	Yes (for 5 conditions)	Yes (advice on attending counselling and guideline recommendations for clinician)	Evaluation of effectiveness planned: study protocol published (15)
(12) Health Heritage©	89 conditions (n = 109)	Recruitment through advertisement	Web-based, patient-completed, pedigree-oriented	Yes (for 5 specialty areas)	Yes (advice on lifestyle, screening and attending counselling)	Gold standard: assessment by genetic counsellor. Outcome: identification of patients at risk for disease(= sensitvity); 60% vs 24% by usual care
(13) My Family Health Portrait	6 diseases	Participants from ClinSeq^™ (volunteers; n = 150)	Web-based, patient-completed, pedigree-oriented	Yes (using extra software: Family Healthware^™)	No (advice to contact doctor)	Gold standard: pedigree by genetic counsellor. Outcome: sensitivity 67–100%, specificity 92–100%
(1, 17, 18) Family Healthware^™	6 diseases	Primary care (n = 2505) (17) and (n = 3344) (18)	Web-based, patient-completed, pedigree-oriented	Yes (for all 6 diseases)	Yes (advice on lifestyle, screening and attending counselling)		Identification of additional participants eligible for earlier cancer screening (4.4–9%) and for genetic assessment (2.5–10%) (17). Behaviour change: difference in fruit and vegetable consumption (3%) and increased physical activity (4%) after personalized risk-tailored messages vs age- and sex- specific messages (18)
(16) FHQ	Single gene disorders, cancer and coronary heart disease	Primary care (n = 121)	Questionnaire, patient-completed, pedigree-oriented	Yes	No	Gold standard: genetic pedigree interview. Outcome: agreement of FHQ with standard: 77%
(14) Questionnaire and pedigree interview	9 risk categories	Internal medicine (n = 78)	Questionnaire, patient-completed, and genetic counselling interview, pedigree-oriented	Yes	Yes (provided by genetic counsellor and medical geneticist)		Identification of subjects at high risk compared to chart review: 61.5% vs 39.7%

FHQ, family history questionnaire.

Table 2. Studies reporting on disease-specific family history tools.

Ref. Tool	Diseases	Setting (n)	Description of tool: Type, user, data orientation	Description of tool: Risk- assessment included?	Description of tool: Management recommendations included?	Assessment: Validity	Assessment: Potential benefit
Cardiovascular disease
(29) FHQ	Coronary heart disease	Primary care (n = 748)	Questionnaire, patient-completed, pedigree-oriented	Yes	No		Increase in proportion of participants classified as having high cardio- vascular risk compared to control practices where family history from patient records was used: mean 4.8% vs 0.3 %
(27) FHQ	Cardio-vascular disease	Cardiology (n = 39)	Questionnaire, patient-completed, disease-oriented	No	No		Identification of participants with high risk (64.1%) and moderate risk for at least one cardiovascular disease (84.6%)
Cancer
(26) Jameslink	Cancer	Oncology (n = 166)	Computerized, patient-completed, disease-oriented	Yes	Yes (advice on life- style and attending counselling)		Patient behaviour: intention to speak to physician about their assessed risk: 53.8% of patients
(19) GREAT	Cancer (24 types)	Patients scheduled for genetic consultation (n = 120)	Web-based, patient-completed, pedigree-oriented	No	No	Gold standard: breast cancer risk determined by genetic counsellor pedigree: Outcome: agreement and correlation of computer pedigree with standard: κ = 0.70, correlation = 0.77
(23) GRAIDS	Breast, ovarian and colorectal cancer	Primary care (n = 23)	Computerized, clinician-completed, pedigree-oriented	Yes	Yes (advice on life- style, screening and attending counselling)		Mean number of referrals per 10 000 registered patients per year (6.2) compared to best current practice (3.2); consistency with referral guidelines (OR = 5.2)
(28) Family History Form	Breast, ovarian and colorectal cancer	Primary care (n = 310)	Questionnaire, patient-completed, pedigree-oriented	Yes	No		Additional registration of relatives diagnosed with breast, ovarian or colorectal cancer (as compared with documentation in medical records): 128 in a sample of 310 patients
(30) Hughes Risk Apps	Hereditary breast and ovarian cancer	Primary care and risk assessment clinics (n = 25 763)	Computerized, patient-completed, pedigree-oriented	Yes	Yes (advice on attending counselling and clinical decision support)		Eligibility for risk assessment and possible genetic testing: in one year 915 (3.6%) individuals were found to be eligible from a population of 25 763 individuals
(20) FHQ	Breast and ovarian cancer	Familial Breast and Ovarian Cancer Clinic (n = 121)	Questionnaire, patient-completed, pedigree-oriented	Yes	Yes (genetic testing criteria for clinician)		Revised probability estimate for having a BRCA1/2 mutation: in 12% of families; altered eligibility for genetic testing: in 5% of families
(22) Are you at risk for hereditary breast cancer?	Breast and ovarian cancer	Variety of clinical venues (n = 33)	Brochure, patient-completed, disease-oriented	No (one or more risk factors might mean increased risk)	Yes (advice on attending counselling)		Increase of percentage of respondents who recognized that at-risk women have prevention strategies available to them after exposure to the brochure: 15%
(25) Questionnaire	Breast and ovarian cancer	Primary care (n = 567)	Questionnaire, patient-completed, pedigree-oriented	Yes	No		Number of significant family histories: 9.4% of patients; likely to be at significant risk and warrant intensive evaluation: 6% of them
(21) GRACE	Breast cancer	Recruitment through advertisement (n = 72)	Computerized, patient-completed, pedigree-oriented	Yes	Yes (advice on life- style, screening and attending counselling)		Difference in risk perception and cancer related worries (between GRACE and nurse counselling: not statistically significant (P > 0.05) for both outcomes
(24) Questionnaire	Breast cancer	Women attending for screening mammograms (n = 559)	Questionnaire, patient-completed, disease-oriented	Yes	No	Gold standard: counsellor interview. Outcome: agreement in classification of women with moderately increased and potentially high risk between questionnaire and standard: 100%

FHQ, family history questionnaire.

Table 3. Main findings: Summary overview of generic family history tools.

Ref. Tool	No. of conditions	Primary care setting	Computerized	Recommendation for physician	Validated
(15) MeTree	Many (n = 48)	√	√	√	Planned
(1,17,18) Family Healthware^™	6	√	√
(16) FHQ	Many	√			√
(12) Health Heritage©	Many (n = 89)		√		√
(13) My Family Health Portrait	6		√		√
(14) Questionnaire by Frezzo 2003	9 risk categories

Table 4. Main findings: Summary overview of five specific family history tools for primary care.^a

Ref. Tool	Condition	Primary care setting	Computerized
(29) FHQ	Coronary heart disease	√
(23) GRAIDS	Breast, ovarian and colorectal cancer	√	√
(28) Family history form	Breast, ovarian and colorectal cancer	√
(30) Hughes Risk Apps	Hereditary breast and ovarian cancer	√	√
(25) Questionnaire	Breast and ovarian cancer	√

^aNone of these tools has been validated.

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