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

doi:10.1370/afm.1617

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Promising Family History Screening Questionnaire
Janet K. Williams

Published on: 20 June 2014
Family History Made Simple
Wilson D Pace

Published on: 15 May 2014
Finally -- a family history we can really use.
Sean P. David

Published on: 15 May 2014

Published on: (20 June 2014)
Page navigation anchor for Promising Family History Screening Questionnaire
Promising Family History Screening Questionnaire
Janet K. Williams, Professor
The process of acquiring a family history can be as simple as asking, how's the family, or as complex as constructing a three generation pedigree supported by evidence from medical records. Either approach may yield information that can be used to promote a patient's health through identifying risk, implement preventive measures, indicate who may benefit from genetic testing, aid in interpretation of genetic test results,...
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The process of acquiring a family history can be as simple as asking, how's the family, or as complex as constructing a three generation pedigree supported by evidence from medical records. Either approach may yield information that can be used to promote a patient's health through identifying risk, implement preventive measures, indicate who may benefit from genetic testing, aid in interpretation of genetic test results, and/or diagnose and treat a condition with a genetic component. Emery, et al., completed an important step in advancing the process of obtaining family history information that provides potentially clinically actionable information, by developing and validating a Family History Questionnaire (FHQ). A brief and accurate screening FHQ on common conditions for which there are effective interventions, that can be implemented in primary health care, is a much needed tool. One of the gaps identified in the In the 2009 NIH State-of-the-Science Conference Statement on Family History and Improving Health (Berg et al. 2009) was how can family history information be gathered in primary care settings that is accurate, but doesn't add to the time burden faced by many primary health care providers. One of the remaining questions from the Consensus statement is: what is the feasibility of this new tool in the clinical setting? Validation of the screening FHQ opens opportunities to answer questions regarding how useful it is for patients who are not like those who were in the original study, i.e. populations that are male, nonwhite, and/or not well educated. The usefulness also depends on the primary care provider's knowledge of genetics as it applies to clinical decisions. Finally it will depend on the success of incorporating the screening FHQ into electronic health records, and into health care systems that provide decision tools for the clinician. If all of these challenges can be met, the FHQ provides a promising advancement towards the goal of improving health by using a person's genetic family history to screen for common conditions for which there are effective interventions.
Berg, A.O., Baird, M.A., Botkin, J.R., Driscoll, D.A., Fishman, P.A., Guarinao, P.D., Hiatt, R.A., Jarvik, G.P. Millon-Underwood, S., Morgan, T.M., Mulvihill, J.J., Polin, T.I., Schimmel, S.R., Stefanek, E., Vollmer, W., & Williams, J.K. (2009). National Institutes of Health state-of-the science conference statement: Family history and improving health. Annals of Internal Medicine 151 (12), 872-877.
Competing interests: None declared
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Competing Interests: None declared.
Published on: (15 May 2014)
Page navigation anchor for Family History Made Simple
Family History Made Simple
Wilson D Pace, Physician
Family history as the primary approach to indentify possible genetic risk in primary care is still paramount. Family history is poorly collected and standard, genogram approaches are not practical in most practice settings. The work of Dr. Emery and his colleagues presents a very robust approach to the development and validation of a brief survey that should be feasible to administer in primary care. The final survey ap...
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Family history as the primary approach to indentify possible genetic risk in primary care is still paramount. Family history is poorly collected and standard, genogram approaches are not practical in most practice settings. The work of Dr. Emery and his colleagues presents a very robust approach to the development and validation of a brief survey that should be feasible to administer in primary care. The final survey appears to have excellent psychometric properties, questions that appear easy to understand and a reasonable length. This tool should allow interested clinicians to incorporate family history into their preventive services activities. In previous work it has been difficult to demonstrate the impact of this information on individual behavior. Thus, more work is required to understand how family history risk information impacts health but the new tool should help advance this work. This is very nicely done work that sets the groundwork for incorporating family history for risk of selected diseases into primary care.
Currently, most primary care practices are not able to systematically incorporate well validated instruments into clinical care in a reliable and sustainable model. The general issue needs to be addressed before even short instruments like this one will be routinely incorporated into most practices. At least in the US primary care needs to step up and develop the decision support systems and data collection systems that will allow tools like this to be effectively utilized at the practice population level.
Competing interests: None declared
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Competing Interests: None declared.
Published on: (15 May 2014)
Page navigation anchor for Finally -- a family history we can really use.
Finally -- a family history we can really use.
Sean P. David, Clinical Associate Professor of Family & Community Medicine
Emery and colleagues report the validation of a family history questionnaire (FHQ) consisting of only nine items, with high sensitivity and specificity for breast, ovarian, colorectal and prostate cancer, melanoma, ischemic heart disease and type 2 diabetes, among 526 general practice patients in western Australia. As the authors noted, it can take hours in a busy general practice clinic to complete a proper three-genera...
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Emery and colleagues report the validation of a family history questionnaire (FHQ) consisting of only nine items, with high sensitivity and specificity for breast, ovarian, colorectal and prostate cancer, melanoma, ischemic heart disease and type 2 diabetes, among 526 general practice patients in western Australia. As the authors noted, it can take hours in a busy general practice clinic to complete a proper three-generational pedigreee; and even with such a completed pedigree, additional disease-specific questionnaires and mathematical models are required to estimate risk. Given the many different guidelines for different familial disease risks by different organizations in different countries, the decisions about appropriate further screening and referrals can be daunting -- particularly in a fragmented healthcare system like the U.S. However, a nine-item FHQ that provides reliable estimates of risk is something that has great clinical utility and could realistically be employed in the busiest of primary care clinics. The authors should be applauded for the clever design and utility of the product of the study.
In order for the FHQ to be implemented in the most widespread manner, there are several systemic changes that will be needed. Integration of FHQs into electronic health records (EHR), front-end entry of FHQ information by medical assistants during initial office visits (only needs to happen once, with updates as needed), EHR algorithms to factor environmental factors (e.g., tobacco use, obesity, lipids, etc) and a common, singular guideline for referral to genetic counselors and/or genetic testing are all needed to make full use of the new FHQ. That said, with this highly useful tool, we should more boldly revisit and push the U.S. Surgeon General's Family Health History Initiative and reintroduce the importance of family history to the nation's doctors, nurses, health care organizations and patients.
Competing interests: None declared
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Competing Interests: None declared.