The current state of cancer family history collection tools in primary care: a systematic review

Abstract

Systematic collection of family history is a prerequisite for identifying genetic risk. This study reviewed tools applicable to the primary care assessment of family history of breast, colorectal, ovarian, and prostate cancer. MEDLINE, EMBASE, CINAHL, and Cochrane Central were searched for publications. All primary study designs were included. Characteristics of the studies, the family history collection tools, and the setting were evaluated. Of 40 eligible studies, 18 relevant family history tools were identified, with 11 developed for use in primary care. Most collected information on more than one cancer and on affected relatives used self-administered questionnaires and paperbased formats. Eleven tools had been evaluated relative to current practice, demonstrating 46 -78% improvement in data recording over family history recording in patient charts and 75-100% agreement with structured genetic interviews. Few tools have been developed specifically for primary care settings. The few that have been evaluated performed well. The very limited evidence, which depends in part on extrapolation from studies in settings other than primary care, suggests that systematic tools may add significant family health information compared with current primary care practice. The effect of their use on health outcomes has not been evaluated. A positive family history is a risk factor for many chronic diseases, reflecting "the consequences of genetic susceptibilities, shared environment, and common behaviors." 1 The systematic collection and assessment of family history information is a potentially valuable tool in preventive medicine and is crucial in the identification of genetic risk. 2 In some situations, family history information alone can form the basis for offering patients appropriately tailored preventive interventions. 1,3 In addition, the clinical predictive value of even the most accurate DNA test depends on penetrance of the gene mutation and requires family history information for test interpretation. 4 Thus, family history information is potentially useful both as a clinical tool in its own right and also as an important adjunct to DNA-based testing.Cancers are a group of relatively common conditions in which, for at least some, family history seems to be an important risk factor. This report focuses on four types of cancer: breast, colorectal, ovarian, and prostate. These are some of the most common cancers where the role of family history is recognized as a risk factor. [5][6][7][8][9] In some families, these cancers form part of recognized hereditary syndromes. 9 In some cases, ethnic ancestry is also associated with risk of cancer-associated genetic mutation, such as breast cancer in the Ashkenazi Jewish community. 10 -13 Family history taking can be conducted as part of a diseasespecific approach, which aims to identify risk of selected single gene disorders (e.g., hereditary breast or colon cancer) for the purpose of offering appropriate specialist referral and management. 14,15 Alternatively, it...

A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians

“…The appropriate interval for systematically asking patients about cancer family history has not been determined. 33 We set our interval at 3 years based on feedback from the clinicians in the women's clinics.…”

“You don’t have to keep everything on paper”: African American women’s use of family health history tools

“…FHH tools, which offer systematic approaches to capturing and documenting family history (Qureshi et al 2009), hold promise in helping individuals collect and retain this information. A number of initiatives have been launched in the USA and elsewhere to educate the public about the importance of collecting and recording FHH information (Guttmacher et al 2004;Dunlop and Barlow-Stewart 2009), often promoting the use of one or more FHH tools to be completed by patients prior to a provider visit (Yoon et al 2002;Acheson 2003;Rich et al 2004;Fuller et al 2010).…”

How does a simple enquiry compare to a detailed family history questionnaire to identify coronary heart disease or diabetic familial risk?

“…4 Earlier studies indicate that there was reasonable agreement between self-completed FH questionnaires (FHQs) to identify familial cancer risk and measures of optimal approach (e.g., a detailed FH by a trained specialist) or criterion standard (e.g., FH recorded in relatives' charts). 4 Currently, there are no studies comparing simple enquiry to a detailed assessment for common diseases, such as CHD or diabetes. The aim of this study is, therefore, to compare a simple enquiry of FH with a detailed assessment, which is considered to be the "optimal" or "best pragmatic" approach, rather than a criterion standard.…”

“…2,3 Although reporting of the disease FH can be inaccurate, many people have a FH of common diseases. 4 FH assessments are part of the national professional guidelines for many common diseases, 5 such as coronary heart disease (CHD) and diabetes. However, FH is not systematically integrated into risk assessment of clinicians for these diseases in Europe or the United States, 6,7 and there is, as yet, no standard method for taking FH.…”

“…4 A detailed FH assessment is, however, time consuming, and nonspecialist clinicians, such as primary care practitioners, often have little time per patient. Familial risks, therefore, often go unrecognized, and avoidable risk is recognized too late.…”