Core Principles in Family History: Background
The National Coalition of Health Professional Education in Genetics Family History Working Group initiated development of these core principles in 2010. Working group members include physicians, nurses, social workers, genetic counselors and experts in genetics, education, patient advocacy, and disease prevention.
The Family History Working Group recommends that all healthcare providers be familiar with the benefits of family history and that healthcare providers involved in primary care and prevention, as well as healthcare subspecialists, become familiar with these core principles. The goal is that family history will be incorporated into routine practice.
Purpose and Limitations of the Core Principles in Family History
NCHPEG Family History Working Group initiated development of these core principles. Working group members include physicians, nurses, social workers, genetic counselors and experts in genetics, education, patient advocacy, and disease prevention.
The Family History Working Group recommends that all healthcare providers be familiar with the benefits of family history and that healthcare providers involved in primary care and prevention, as well as healthcare subspecialists, become familiar with these core principles. The goal is that family history will be incorporated into routine practice.
Educational Tool for Collection, Interpretation and Intervention
We developed the core principles and the associated PowerPoint slides primarily as educational tools for those who train clinicians. This document does not provide information for general or disease-specific risk assessment, recommendations for disease treatment or management, or guidelines for managing work flow.
These core principles focus on the collection and basic interpretation of a medical family history in pedigree format for use in patient care and management. The principles for standard data collection, interpretation, and intervention described in this document can serve as a guide for providers who use other family history collection and documentation forms and tools, such as a family history chart or table.
All providers should be able to:
- understand and interpret the basic symbols and structure of a pedigree,
- record a multi-generational medical family history,
- recognize basic patterns of inheritance,
- recognize genetic red flags in relation to family history as appropriate for their practice, and
- assign general disease risks to a patient and, as appropriate, to at-risk relatives (such as a pregnancy or offspring).
Core Principles Can Serve as a Guide
The increasing availability of family history tools that automatically generate a pedigree from patient-entered data might lessen the burden on the clinician to collect family history information. Nonetheless, the demand for family history interpretation and intervention, as well as confirmation of the previously collected data, will remain a priority for clinicians, and these core principles can serve as a guide when a patient presents with family history information already in hand.
Benefits of Taking a Medical Family History
The ability to take and interpret a family health history is essential to providing patient care in the era of genomic medicine. Even when it becomes technically and financially feasible to generate a complete genomic sequence for each patient, family history will still provide important context about diseases that may run in the family, enabling providers to implement appropriate screening, interventions, and management plans. Competence in recording and interpreting a family health history or medical family tree benefits all health professionals regardless of their clinical specialty or the ages of the patients in their care.
In conjunction with traditional medical history, a patient’s family history can:
Inform diagnosis. Knowledge of family history can promote more rapid diagnosis, streamlined testing, and better long-term management (Guttmacher et al., 2004).
Promote risk assessment. Medical family history information can be used in combination with other medical risk factors to estimate a patient’s risk of developing a specific condition, to stratify that risk into higher or lower categories and determine if the patient or a relative is an appropriate candidate for genetic testing (Bennett, 2004; Rich et al., 2004).
Prevent, detect, and manage disease. Based on a patient’s risk, the provider can recommend appropriate screening or interventions to improve the patient’s overall health and possibly prevent the onset of disease. The emphasis on disease prevention and management based on the family history may also motivate changes in behavior that forestall disease or reduce its adverse effects.
Build rapport with patients. The process of eliciting a family history provides an excellent opportunity to build a relationship with the patient and to become aware of the patient’s motivations and concerns (Bennett, 2010). Such information can be beneficial as the provider helps the patient make health-related decisions. Collection and interpretation of a patient’s family history provide teaching opportunities for the patient as well as the healthcare provider. Eliciting and summarizing family history information can:
- help the patient understand the condition in question,
- clarify patient misconceptions,
- help the patient recognize the inheritance pattern of the disorder,
- demonstrate variation in disease expression (such as different ages at onset),
- provide a visual reminder of who in the family is at risk for the condition, and
- emphasize the need to obtain medical documentation on affected relatives.
Adapted from Bennett, 2010
Collection and interpretation of family history is increasingly becoming standard of care in general practice. In addition to professional genetic societies, many other professional societies -- the American Academy of Family Physicians, the American College of Obstetricians and Gynecologists, the American Society of Clinical Oncologists, and multiple nursing organizations -- advocate use of family history as an important screening tool and recommend that their members have the knowledge and skills to gather and interpret family history information (Bennett et al., 2008; Jenkins & Calzone, 2007).
Standardizing Family History Documentation for EMRs
The expanding use of electronic medical records (EMR) has highlighted the importance of standardizing all types of medical documentation. The medical family history is increasingly being included in patients’ EMRs, a development that affirms the importance of standardizing family history documentation and for health professionals to be able to recognize basic pedigree symbols, structure, and nomenclature (Bennett et al., 2008; Bigley & Feero, 2008). Alternate modes of collection of family history information, such as in tabular form, should also be developed and studied.
Assessing Clinical Utility of Family History with More Research
Standardization of family health history data is also an important element for research on family history. The 2009 National Institutes of Health State-of-the-Science Conference on Family History and Improving Health called for more research to assess the value of family history for common diseases, and presented a research agenda that includes topics in the structure of family history, collection of relevant data, and the definition and measurement of health-related outcomes (Berg el al., 2009). This call for research to assess the clinical utility of family history in clinical care further supports the importance of competence in recording and interpreting a family heath history.
Acknowledgements
This project was funded by the Audrey Heimler Special Projects fund of the National Society of Genetic Counselors and National Human Genome Research Institute. Authors and Advisors include:
- Emily Malouf, MCG, CGC
- Robin Bennett, MS, CGC
- Joseph Mcinerney, MS, MA
- Emily Edelman, MS, CGC
- Siobhan Dolan, MD, PhD
- Erin Harvey, ScM, CGC
- Paula Yoon, ScD, MPH
- Joan Scott, MS, CGC