NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Cover of Family History and Improving Health

Family History and Improving Health

Evidence Reports/Technology Assessments, No. 186

Task Order Leaders: , MBBS, MSc, MRCGP, DM, , MB, ChB, MSc, MRCP(UK), FFPH, and , BSc, PT, PhD. , MA, PhD, , CCFP, FCFP, , MB, ChB, FRCP, FRCP(C), FCCMG, DABMG, and , BSc, PhD.

Rockville (MD): Agency for Healthcare Research and Quality (US); .
Report No.: 09-E016

Structured Abstract


This systematic review aimed to evaluate, within unselected populations: Question 1 (Q1) key elements of family history (FH) which usefully predict subsequent disease; Question 2 (Q2) the accuracy of reporting FH; Question 3 (Q3) the impact of FH-based risk information on the uptake of preventive interventions; Question 4 (Q4) the potential for harms associated with collecting cancer FH; Question 5 (Q5) factors that facilitate or hinder the collection of family history; and, Question 6 (Q6) future directions.

Data Sources:

MEDLINE®, EMBASE®, CINAHL®, Cochrane Controlled Trial Register® (CCTR) ®, and PsycINFO were searched from 1995 to March 2, 2009 inclusive.

Review Methods:

Standard systematic review methodology was employed. Eligibility criteria varied by question, but overall, specified studies reported in English, excluded qualitative designs, and limited populations to those unselected for pre-existing risk (except for Q2). Study designs and outcomes varied by research question.


One hundred and thirty-seven publications were eligible in total for this review. Q1: Key elements of FH: Eighty-nine studies were eligible for this question of which 59 reported FH and data on subsequent or current disease in subjects. The varied definitions of positive FH were consistently associated with elevated relative risks, but their value in predicting future risk or detecting current disease was difficult to assess without considering further information on other risk factors or the available preventive interventions. Q2: Accuracy of FH Reporting. Thirty-seven studies evaluated accuracy and showed relatively high specificity and low sensitivity across all disease categories. Q3: Uptake of preventive interventions. Two studies evaluated the impact of FH-based risk and the evidence was insufficient to establish any effect on change in clinical preventive behavior or uptake of interventions. Q4: Harms of FH taking. Three studies evaluated the impact of FH-based risk information on psychological outcomes and indicated no evidence of significant harm.Q5: Factors affecting FH collection: The evidence base for addressing Q5 is heterogeneous and limited to six studies exploring the association between various factors and family history reporting, documentation and discussion.


Our review indicates: (Q1) Many FH definitions showed low discriminatory accuracy in predicting disease risk in individuals but further research is warranted; (Q2) accuracy of reporting is higher for relatives without, than those affected by, a given disease; (Q3) there is insufficient evidence to assess the effect of FH-based risk assessment on preventive behaviors; (Q4) there is limited evidence to assess whether the provision of FH-based personalized risk assessment results in adverse outcomes; (Q5) there is little evidence on factors affecting FH reporting and collection in primary care.


Prepared for: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services.1 Contract No. HHSA290-2007-10060-I. Prepared by: McMaster University Evidence-based Practice Center, Hamilton, ON.

Suggested citation:

Qureshi N, Wilson B, Santaguida P, Little J, Carroll J, Allanson J, Raina P. NIH State-of-the-Science Conference: Family History and Improving Health. Evidence Report/Technology Assessment No. 186. (Prepared by the McMaster University Evidence-based Practice Center, under Contract No. 290-2007-10060-I.) AHRQ Publication No. 09-E016. Rockville, MD: Agency for Healthcare Research and Quality. August 2009.

This report is based on research conducted by the McMaster University Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (Contract No. HHSA 290-2007-10060-I). The findings and conclusions in this document are those of the authors, who are responsible for its content, and do not necessarily represent the views of AHRQ. No statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services.

The information in this report is intended to help clinicians, employers, policymakers, and others make informed decisions about the provision of health care services. This report is intended as a reference and not as a substitute for clinical judgment.

This report may be used, in whole or in part, as the basis for the development of clinical practice guidelines and other quality enhancement tools, or as a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied.

No investigators have any affiliations or financial involvement (e.g., employment, consultancies, honoraria, stock options, expert testimony, grants or patents received or pending, or royalties) that conflict with material presented in this report.


540 Gaither Road, Rockville, MD 20850. www‚Äč

Bookshelf ID: NBK32554


Related information

Similar articles in PubMed

See reviews...See all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...