Systematic Review: Family History in Risk Assessment for Common Diseases

doi:10.1059/0003-4819-151-12-200912150-00177

Systematic Review: Family History in Risk Assessment for Common Diseases

Brenda J. Wilson, BSc, MB, ChB, MSc;
Nadeem Qureshi, MBBS, MSc, DM;
Pasqualina Santaguida, BSc, PT, PhD;
Julian Little, MA, PhD;
June C. Carroll, MD;
Judith Allanson, MB, ChB; and
Parminder Raina, BSc, PhD

From the University of Ottawa, Ottawa, Ontario, Canada; University of Nottingham, Nottingham, United Kingdom; McMaster University Evidence-Based Practice Center and McMaster University, Hamilton, Canada; Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada; and Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Abstract

Background: The usefulness of routinely examining family history in primary care practice is uncertain.

Purpose: To assess the beneficial and adverse effects of collecting family history in primary care populations; how well family history predicts individual disease risk; and how accurately patients report it.

Data Sources: English-language studies in MEDLINE, EMBASE, CINAHL, Cochrane Central Register of Controlled Trials, and PsycINFO from 1995 to 2 March 2009.

Study Selection: Two independent reviewers selected studies that met question-specific eligibility criteria. These included controlled and uncontrolled intervention studies of systematic family history collection and uptake of preventive interventions or adverse effects, longitudinal and cross-sectional studies that examined family history and disease frequency, and studies in which reported family history was validated against relatives' true disease status.

Data Extraction: Information about study quality, setting, and findings was extracted by using standardized protocols.

Data Synthesis: Two uncontrolled studies provided insufficient evidence to assess whether querying about family history improves any outcomes. One randomized, controlled trial and 2 uncontrolled studies provided weak evidence that some patients experienced a reversible, short-term increase in anxiety associated with family history taking. In 41 studies, different family history definitions were associated with sensitivities of 0 to 0.51 and specificities of 0.66 to 1.00 for detection of disease risk, and 0 to 0.83 and 0.48 to 1.00, respectively, for detection of prevalent disease. Twenty-three studies suggested that absence of disease in relatives was more accurately reported than presence of disease and that reporting accuracy was higher for information related to first-degree relatives than more distant relatives.

Limitation: Few studies were designed to address the specific questions of interest.

Conclusion: Insufficient evidence evaluates how to collect family history information accurately in the primary care setting and the effects of taking family history on patient outcomes. Patients seem to correctly report the absence of disease in relatives more often than the presence of disease.

Primary Funding Source: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services (contract no. 290-02-0020).

Article and Author Information

Disclaimer: The opinions expressed herein do not necessarily reflect the opinions of the Agency for Healthcare Research and Quality.
Acknowledgment: The authors thank Supriya Janakiraman, Task Officer; Gurvaneet Randhawa; members of the technical expert panel, Alfred Berg, Panel Chair; Wylie Burke; Lisa Madlensky; and Louise Acheson, who were instrumental in defining the parameters of this review. They also thank Lynda Booker, Mary Gauld, Homa Keshavarz, Jinhui Ma, Maureen Rice, Laura Cross-Bardell, and Silvia Visentin for their work in preparing the report and assistance with this manuscript.
Grant Support: By the Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services (contract no. 290-02-0020).
Potential Conflicts of Interest: Honoraria: B.J. Wilson (McMaster Evidence-based Practice Center), N. Qureshi (McMaster Evidence-based Practice Center), J. Little (McMaster Evidence-based Practice Center), J.C. Carroll (McMaster Evidence-based Practice Center), J. Allanson (McMaster Evidence-based Practice Center).
Requests for Single Reprints: Brenda J. Wilson, BSc, MB, ChB, MSc, University of Ottawa, Department of Epidemiology & Community Medicine, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada; e-mail, bwilson{at}uottawa.ca.
Current Author Addresses: Drs. Wilson and Little: Department of Epidemiology & Community Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
Dr. Qureshi: University of Nottingham, Institute for Clinical Research, Division of Primary Care, Medical School Queen's Medical Centre, NG7 2UH, Nottingham, United Kingdom.
Dr. Santaguida, McMaster University Evidence Based Practice Center, DTC, Room 518, 1280 Main Street West, Hamilton, ON L8S 4L8, Canada.
Dr. Carroll: Granovsky Gluskin Family Medicine Centre, 60 Murray Street, 4th Floor Box 25, Toronto, ON M5T 3L9, Canada.
Dr. Allanson: Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada.
Dr. Raina: McMaster University Evidence Based Practice Center, DTC, Room 310, 1280 Main Street West, Hamilton, ON L8S 4L8, Canada.
Author Contributions: Conception and design: B.J. Wilson, N. Qureshi, P. Santaguida, J. Little, J.C. Carroll, J. Allanson.
Analysis and interpretation of the data: B.J. Wilson, N. Qureshi, P. Santaguida, J. Little, J.C. Carroll.
Drafting of the article: B.J. Wilson, N. Qureshi, P. Santaguida, J. Allanson.
Critical revision of the article for important intellectual content: B.J. Wilson, N. Qureshi, P. Santaguida, J. Little, J.C. Carroll, P. Raina.
Final approval of the article: B.J. Wilson, N. Qureshi, P. Santaguida, J. Little, J.C. Carroll, J. Allanson, P. Raina.
Provision of study materials or patients: P. Santaguida.
Statistical expertise: P. Santaguida, J. Little, P. Raina.
Obtaining of funding: P. Santaguida, P. Raina.
Administrative, technical, or logistic support: P. Santaguida.
Collection and assembly of data: B.J. Wilson, N. Qureshi, P. Santaguida, J. Little, J. Allanson.