BACKGROUND: Taking the family history helps the doctor in estimating the probability of disease in individual patients. However, significant barriers to obtaining adequate family history information remain. Tools overcoming these barriers might support family physicians in this task. OBJECTIVE: To review systematically the characteristics of existing family history tools and discuss their potential use in primary care. METHODS: Studies were identified through searches of PubMed, Embase and Cinahl from 1 January 2002 until May 2012. All authors independently screened studies and included original research papers on family history tools of which assessment had been performed or was planned. We reviewed diseases for which family history information was collected, study setting, tool design, type of family history collection, presence of risk-assessment and recommendations for management, and assessment (categorized as either validity or benefit). RESULTS: Eighteen family history tools were identified: six generic, two on cardiovascular disease and ten on cancer. The six generic tools were partly tested in primary care (3x), are mainly computerized (4x), rarely include management recommendations for the physician (1x) and were partly validated against a reference standard (genetic counsellor) (3x, plus one planned). Of the five specific tools studied in primary care, none was validated. No family history tool allows electronic transfer of family history information to electronic medical record systems. Use of a family history tool improved identification of patients at risk for disease. CONCLUSION: Several promising family history tools for primary care have been developed but large-scale implementation cannot be advised yet, based on available validation studies.
BACKGROUND: Taking the family history helps the doctor in estimating the probability of disease in individual patients. However, significant barriers to obtaining adequate family history information remain. Tools overcoming these barriers might support family physicians in this task. OBJECTIVE: To review systematically the characteristics of existing family history tools and discuss their potential use in primary care. METHODS: Studies were identified through searches of PubMed, Embase and Cinahl from 1 January 2002 until May 2012. All authors independently screened studies and included original research papers on family history tools of which assessment had been performed or was planned. We reviewed diseases for which family history information was collected, study setting, tool design, type of family history collection, presence of risk-assessment and recommendations for management, and assessment (categorized as either validity or benefit). RESULTS: Eighteen family history tools were identified: six generic, two on cardiovascular disease and ten on cancer. The six generic tools were partly tested in primary care (3x), are mainly computerized (4x), rarely include management recommendations for the physician (1x) and were partly validated against a reference standard (genetic counsellor) (3x, plus one planned). Of the five specific tools studied in primary care, none was validated. No family history tool allows electronic transfer of family history information to electronic medical record systems. Use of a family history tool improved identification of patients at risk for disease. CONCLUSION: Several promising family history tools for primary care have been developed but large-scale implementation cannot be advised yet, based on available validation studies.
Entities:
Keywords:
family history; genetics; primary care; tool
Authors: Maya Leventer-Roberts; Ilan Gofer; Yuval Barak Corren; Ben Y Reis; Ran Balicer Journal: Eur J Public Health Date: 2020-04-01 Impact factor: 3.367
Authors: Adarsha S Bajracharya; Bradley H Crotty; Hollis B Kowoloff; Charles Safran; Warner V Slack Journal: J Am Med Inform Assoc Date: 2019-07-01 Impact factor: 4.497
Authors: R Ryanne Wu; Rachel A Myers; Adam H Buchanan; David Dimmock; Kimberly G Fulda; Irina V Haller; Susanne B Haga; Melissa L Harry; Catherine McCarty; Joan Neuner; Teji Rakhra-Burris; Nina Sperber; Corrine I Voils; Geoffrey S Ginsburg; Lori A Orlando Journal: Appl Clin Inform Date: 2019-03-13 Impact factor: 2.342
Authors: Lori A Orlando; R Ryanne Wu; Rachel A Myers; Adam H Buchanan; Vincent C Henrich; Elizabeth R Hauser; Geoffrey S Ginsburg Journal: Genet Med Date: 2016-03-03 Impact factor: 8.822
Authors: Xuan Li; Ryan M Kahn; Noelani Wing; Zhen Ni Zhou; Andreas Ian Lackner; Hannah Krinsky; Nora Badiner; Rhea Fogla; Isabel Wolfe; Hannah Bergeron; Becky Baltich Nelson; Charlene Thomas; Paul J Christos; Ravi N Sharaf; Evelyn Cantillo; Kevin Holcomb; Eloise Chapman-Davis; Melissa K Frey Journal: JCO Clin Cancer Inform Date: 2021-06