Family history: Still relevant in the genomics era
ABSTRACTEven at the dawn of the genomics era, the family history is still very relevant, being a proxy for genetic, environmental, and behavioral risks to health. The family history can be used to inform risk stratification, allowing for judicious use of screening and opening the door to early and even prophylactic treatment. This review aims to re-energize our use of the family history in primary care practice.
KEY POINTS
- The family history is an underused tool for predicting the risk of disease and for personalizing preventive care.
- Barriers to the appropriate collection and use of the family history include concerns over the reliability of patient reporting, a lack of time and reimbursement, and provider knowledge gaps.
- Use of family history to inform genetic testing for hereditary cancer syndromes has been shown to improve outcomes and may reduce overall health care costs.
- Future solutions need to focus on creating time-effective ways to collect and analyze the family history, and on developing innovative methods of educating medical providers at all levels of training as to how to apply the family history in clinical practice.
CHALLENGE 3: A KNOWLEDGE GAP IN CLINICIANS
Another challenge often cited as a cause of the underuse of the family history as a predictor of disease risk is that clinicians may not know enough about the topic. Several studies indicated that even when physicians had obtained some components of the family history, they did not document risk appropriately or recognize the significance of the pattern of inheritance observed.37–39
In a study comparing primary care physicians and gastroenterologists in their use of the family history to predict the risk of hereditary colon cancer, gastroenterologists were more likely to elicit a family history of colorectal cancer and implement appropriate screening strategies, but overall compliance with screening guidelines was suboptimal in both groups.40
A 2011 report by an advisory committee to the secretary of the US Department of Health and Human Services concluded that lack of genetics education in medical school limits the integration of genetics into clinical care.41
How can we close this knowledge gap?
Recognizing a need, the National Coalition for Health Professional Education in Genetics was established in 1996 by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute (www.nchpeg.org). Its mission is to promote the education of health professionals and access to information about advances in human genetics to improve the health care of the nation. It offers educational materials, including a newly updated “Core Principles in Family History” program, which can be used to educate medical providers and their patients about various concepts related to genetics and family history.
In addition, physicians can use many risk assessment tools based on family history in patient care. Two of the best known are:
- The Gail breast cancer risk assessment model, hosted by the National Cancer Institute (www.cancer.gov/bcrisktool/)
- The FRAX osteoporosis risk assessment model, developed by the World Health Organization (www.shef.ac.uk/FRAX).
As we continue to educate the medical community about the value of the family history in predicting disease, it will be important to increase efforts in medical schools and residency programs and to find new, more interactive ways of teaching these concepts.
A possible strategy is to highlight the use of pedigree drawing to recognize patterns of inheritance.2 In a study of physician attitudes toward using patient-generated pedigrees in practice, such as those produced by the US surgeon general’s My Family Health Portrait, 73% of physicians stated that the patient-generated pedigree would improve their ability to assess the risk of disease, and the majority also agreed that it would not extend the time of the assessment.16
Is this information clinically useful?
Furthermore, knowing they are at risk might empower people and encourage them to engage with the medical system. For example, counseling people at risk of diabetes as reflected in the family history has been shown to increase their understanding of the risk and of preventive behaviors. Further study is needed to determine if such messages can engender lasting changes in behavior across many diseases.42–46
TOWARD PERSONALIZED CARE
Especially now that caregivers are striving to provide value-based health care with emphasis on preventive care, the family history remains an important tool for detecting risk of disease. The evidence clearly indicates that medical providers have room for improvement in taking a family history and in using it.
We hope that asking patients about family history and recognizing patterns of disease will help us create personalized preventive-care plans, providing greater opportunity to educate and motivate our patients to work with us towards better health. Future solutions need to focus on time-effective ways to collect and analyze family history and on innovative methods of teaching medical providers at all levels to apply the family history to clinical practice.
