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Research ArticleOriginal Research

Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Jon D. Emery, Gabrielle Reid, A. Toby Prevost, David Ravine and Fiona M. Walter
The Annals of Family Medicine May 2014, 12 (3) 241-249; DOI: https://doi.org/10.1370/afm.1617
Jon D. Emery
1School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Crawley, Western Australia
2General Practice and Primary Care Academic Centre, University of Melbourne, Melbourne, Australia
3The Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
MA, MBBCh, MRCGP, FRACGP, DPhil
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  • For correspondence: Jon.emery@uwa.edu.au
Gabrielle Reid
1School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Crawley, Western Australia
4Genetic Services of Western Australia, Perth, Western Australia
BSc, Grad DipGen Couns, PhD
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A. Toby Prevost
3The Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
5King’s College London, Department of Primary Care and Public Health Sciences, United Kingdom
BSc, MSc, PhD
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David Ravine
6School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia
7Western Australian Institute for Medical Research, University of Western Australia, Nedlands, Australia
MBBS, MD, FRCPath
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Fiona M. Walter
1School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Crawley, Western Australia
3The Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
MA, MBBCh, FRCGP, MD
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Article Figures & Data

Figures

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  • Figure 1
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    Figure 1

    Original family health screening questionnaire.

  • Figure 2
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    Figure 2

    Receiver operating characteristic curve for combination of 9 questions to identify increased risk for any condition.

    Notes: Combination was of questions 2, 4, 6, 7, 8, 9, 10, 12, and 13.

  • Figure 3
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    Figure 3

    Final family health screening questionnaire.

Tables

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    • View popup
    Table 1

    Prevalence of Increased Risk of Study Conditions According to Reference Standard Risk Assessment

    MeasureType 2 DiabetesHeart DiseaseBreast CancerOvarian CancerColorectal CancerProstate CancerMelanoma
    Number excluded because of personal history of condition3661007
    Number excluded because of ineligible sexn/an/a120120n/a400n/a
    Sample size for analysis of increased risk, No.520523400405526120519
    Prevalence of increased risk according to 3-generation pedigree analysis,a No. (%)120 (23.1)87 (16.6)37 (9.3)28 (6.9)34 (6.5)6 (5.0)54 (10.4)
    • n/a = not applicable.

    • ↵a Prevalence of increased risk of at least 1 condition was 51.5% (263 of 511) after excluding patients with a personal history of any condition.

    • View popup
    Table 2

    Sensitivity and Specificity of Questions for Detecting Increased Risk of Conditions Applicable to Both Sexes

    QuestionHeart DiseaseType 2 DiabetesMelanomaColorectal Cancer
    SensitivitySpecificitySensitivitySpecificitySensitivitySpecificitySensitivitySpecificity
    195 (80/84)a15 (62/420)a92 (106/115)a15 (57/386)a91 (48/53)14 (61/387)90 (28/31)13 (63/476)
    288 (76/86)a81 (352/434)a44(52/119)a73 (290/398)a26 (14/40)69 (318/462)35 (12/34)70 (341/489)
    3a0 (0/83)97 (398/412)4 (5/113)98 (370/379)0 (0/52)97 (425/439)3 (1/32)97 (453/466)
    3b0 (0/82)99 (399/400)0 (0/108)99 (370/371)0 (0/52)99 (425/426)0 (0/32)99 (452/453)
    447 (41/87)a66 (286/434)a92 (111/120)a81 (322/398)a33 (18/54)64 (295/463)62 (21/34)a66 (322/490)a
    5a1 (1/82)98 (403/410)5 (5/111)a99 (375/378)a0 (0/53)98 (427/435)3 (1/31)98 (457/464)
    5b2 (2/81)a99 (407/408)a3 (3/109)a100 (377/377)a0 (0/53)99 (429/432)0 (0/31)99 (458/461)
    5c1 (1/82)99 (406/409)3 (3/110)a99 (377/378)a0 (0/53)99 (430/434)3 (1/32)99 (459/462)
    5d2 (2/80)98 (404/411)4 (4/111)99 (373/378)0 (0/53)98 (426/435)0 (0/31)98 (455/464)
    69 (8/86)a97 (415/430)a6 (7/120)96 (376/393)4 (2/54)96 (438/458)3 (1/33)95 (463/486)
    78 (7/87)95(409/429)8 (9/118)95 (376/395)2 (1/53)94 (432/459)12 (4/34)95 (461/485)
    821 (18/86)74 (318/429)24 (29/119)75 (294/393)94 (51/54)a84 (383/457)a32 (11/34)75 (365/484)
    98 (7/87)90 (384/429)16 (19/117)a92 (363/396)a13 (7/53)90 (413/459)12 (4/34)90 (436/485)
    1013 (11/85)90 (388/432)13 (15/103)90 (356/396)13 (7/54)89 (410/459)6 (2/34)89 (432/486)
    116 (5/87)96 (416/432)2 (3/120)72 (334/467)6 (3/54)9 6 (4 43/461)3 (1/34)96 (468/488)
    1210 (9/86)93 (399/428)8 (9/118)93 (364/393)7 (4/54)93 (422/456)44 (15/34)a95 (460/483)a
    137 (6/85)93 (400/431)7 (8/118)93 (366/395)2 (1/53)92 (423/459)53 (18/34)a96 (466/485)a
    1456 (49/87)45 (193/429)53 (63/118)44 (175/395)72 (39/54)a47 (396/456)a82 (28/34)a47 (226/485)a
    1511 (9/85)86 (370/429)11 (13/118)86 (338/393)17 (9/54)87 (396/456)29 (10/34)a88 (424/483)a
    • Notes: Values are expressed as percent (numerator/denominator); within each cell, top values are for sensitivity and bottom values are for specificity.

    • ↵a Questions significantly associated with increased risk in univariate analysis.

    • View popup
    Table 3

    Sensitivity and Specificity of Questions for Detecting Increased Risk for Sex-Specific Conditions

    QuestionProstate CancerOvarian CancerFemale Breast Cancer
    SensitivitySpecificitySensitivitySpecificitySensitivitySpecificity
    167 (4/6)18 (20/112)89 (25/28)11 (41/360)100 (37/37)a12 (43/346)a
    20 (0/6)73 (83/113)36 (10/28)68 (255/375)41 (15/37)69 (248/361)
    3a0 (0/5)95 (102/107)0 (0/26)97 (350/3590 (0/35)97 (336/345)
    3b0 (0/5)100 (103/103)0 (0/26)99 (349/350)0 (0/34)99 (336/337)
    417 (1/6)70 (80/114)36 (10/28)62 (231/375)49 (18/37)63 (227/361)
    5a0 (0/5)100 (107/107)4 (1/27)98 (348/355)3 (1/36)98 (334/341)
    5b0 (0/5)99 (106/107)0 (0/27)995 (350/352)0 (0/36)99 (336/338)
    5c0 (0/5)99 (107/108)0 (0/27)99 (350/353)0 (0/36)99 (336/339)
    5d17 (1/6)97 (105/108)0 (0/27)99 (348/353)3 (1/36)99 (335/339)
    683 (5/6)a98 (112/114)a4 (1/27)96 (354/370)3 (1/36)96 (341/357)
    717 (1/6)96 (109/114)46 (13/28)a98 (361/370)a22 (8/37)a96 (342/356)a
    850 (3/6)72 (82/114)18 (5/28)76 (279/369)31 (11/36)77 (273/356)
    90 (0/6)96 (108/113)18 (5/28)88 (328/371)65 (24/37)a94 (336/358)a
    1017 (1/6)94 (107/114)43 (12/28)a90 (335/371)a67 (24/36)a94 (337/358)a
    110 (0/6)96 (109/113)7 (2/27)96 (360/375)0 (0/36)95 (344/361)
    120 (0/6)93 (106/114)7 (2/28)92 (340/368)11 (4/35)93 (330/356)
    130 (0/6)94 (107/114)11 (3/28)93 (343/370)11 (4/37)93 (330/356)
    1450 (3/6)49 (55/113)82 (23/28)a45 (168/371)a84 (31/37)a47 (166/357)a
    1517 (1/6)87 (99/114)18 (5/28)87 (320/368)22 (8/37)87 (309/354)
    • Notes: Values are expressed as percent (numerator/denominator).

    • ↵a Questions significantly associated with increased risk in univariate analysis.

    • View popup
    Table 4

    Performance Characteristics of Questions Associated With Increased Risk of Breast Cancer

    QuestionSensitivitySpecificityPositive Predictive ValueFalse-Positive Ratea
    1067b (24/36) [49–81]94b (337/358) [91–96]53b (24/45) [38–68]3b (12/349) [2–6]
    965b (24/37) [47–80]94b (336/358) [91–96]52b (24/46) [37–67]4b (13/349) [2–6]
    722b (8/37) [10–38]96b (342/356) [94–98]36b (8/22) [17–59]8b (29/371) [5–11]
    7 or 9 or 1095 (35/37) [82–99]b86 (308/358) [82–89]b41 (35/85) [31–52]b1 (2/310) [0.1–2]b
    9 and 1086b (32/37) [71–95]90b (321/358) [86–93]46b (32/69) [34–59]2b (5/326) [1–4]
    • Notes: Values are expressed as percent (numerator/denominator) [95% CI].

    • ↵a Calculated as 1 – negative predictive value.

    • ↵b Questions or combinations of questions significantly associated with increased risk in univariate analysis.

Additional Files

  • Figures
  • Tables
  • The Article in Brief

    Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

    Jon D. Emery , and colleagues

    Background The family medical history is the most relevant genetic risk tool for use in clinical practice. This study reports the development and validation of a 9-question family history screening questionnaire designed to assess risk of multiple common diseases.

    What This Study Found A set of nine simple questions can accurately screen for increased risk of seven common, potentially preventable, serious conditions: breast, ovarian, colorectal, and prostate cancer; melanoma, ischemic heart disease; and type 2 diabetes. This tool could help identify primary care patients who might benefit from more detailed assessment and discussion of their disease risk.

    Implications

    • Further work is required to understand the feasibility of implementing the screening questionnaire into routine clinical practice.
  • The Article in Brief

    The Future Role of the Family Physician in the United States: A Rigorous Exercise in Definition

    Robert L. Phillips, Jr , and colleagues

    Background Amid strong shifts taking place in health care, clarification of the family physician's role is critical to the discipline's future success and possibly even to its future existence. Representatives from seven family medicine organizations propose a statement defining the role to which family physicians aspire. They also offer a "foil" definition of what family medicine could become absent any change.

    What This Study Found The following definition of the family physician's role was selected. "Family physicians are personal doctors for people of all ages and health conditions. They are a reliable first contact for health concerns and directly address most health care needs. Through enduring partnerships, family physicians help patients prevent, understand, and manage illness, navigate the health system and set health goals. Family physicians and their staff adapt their care to the unique needs of their patients and communities. They use data to monitor and manage their patient population, and use the best science to prioritize services most likely to benefit health. They are ideal leaders of health care systems and partners for public health."

    Implications

    • The authors conclude that embracing a new definition and, perhaps more importantly, rejecting the foil, are important steps as family medicine negotiates with government, payers, health systems, patients and communities and works to build the future of the specialty.
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The Annals of Family Medicine: 12 (3)
The Annals of Family Medicine: 12 (3)
Vol. 12, Issue 3
May/June 2014
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Development and Validation of a Family History Screening Questionnaire in Australian Primary Care
Jon D. Emery, Gabrielle Reid, A. Toby Prevost, David Ravine, Fiona M. Walter
The Annals of Family Medicine May 2014, 12 (3) 241-249; DOI: 10.1370/afm.1617

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Development and Validation of a Family History Screening Questionnaire in Australian Primary Care
Jon D. Emery, Gabrielle Reid, A. Toby Prevost, David Ravine, Fiona M. Walter
The Annals of Family Medicine May 2014, 12 (3) 241-249; DOI: 10.1370/afm.1617
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