The completion of the Human Genome project in 2001 increased the understanding of the human condition and genetic diseases in ways that were previously unimaginable. As the years pass, clinical genome and exome sequencing is becoming more affordable and more regularly used in clinical practice, increasing pressure on primary care providers to understand and implement genetics in their own daily practice. Patients are also becoming more aware of genetic services and are requesting genetic testing and advice from their primary care providers. As the understanding for genetics evolves, it is clear that it should not only be viewed in the context of complicated genetic conditions but also in the context of a patient’s overall health.
The patient family history (FH) has been referred to as the “first genetic test”. It is an inexpensive tool used to identify individuals at risk for genetic conditions, confirm a medical diagnosis and assess risk for any chronic adult and pediatric disease. An accurate FH enables the provider to assess patterns of inheritance, determine if and when to screen, and provide personalized, targeted education for each patient. The process of taking a FH also gives the clinician the opportunity to understand familial relationships which improves rapport with the patient. A pedigree is a FH represented in a diagram form, which includes medical diagnoses, age of onset, and relationship of each family member using standardized symbols and terms established by the National Society of Genetic Counselors. These pedigrees make it easy to recognize genetic etiology with inherited patterns. Pedigrees have broad clinical utility because they identify risk factors for common chronic diseases such as heart disease, diabetes, cancer, asthma, and psychiatric conditions.
Pediatric primary care providers have a unique during a critical and lengthy period of a patient’s life when most genetic disorders are diagnosed. As the field of genomics advances and genetic testing becomes more common practice, FH can help the provider decide what patients will benefit from testing. As previously discussed, FH not only has implications for genetic conditions but can also be used as a predictor of pediatric and adult onset diseases (Guttmacher, Collins, & Cardona, 2004). Miller & Hinton (2014) argue that many acquired diseases of adulthood have developmental causes and if identified as a risk in childhood, they may be prevented later in life.
Aspects of Family History That Can be Improved
It is clear that FHs have always been a cornerstone of primary health care. Despite their importance in the holistic care of a patient, a study by Rinke and colleagues (2014) surveyed pediatric primary care providers on their FH practices and found that only 31% of participants regularly gathered a three-generation FH. Pedigrees were even less common as only 5% reported constructing a pedigree with the information collected. This is similar to results from a study by Tarini et al. (2018) which found that 2.8% of the pediatric primary care providers draw a pedigree (2.8%) and additionally reported that few providers ask about ethnic background or consanguinity. They also that found a wide variation in the type of information collected and the frequency FHs were updated.
Scott & Trotter (2013) argue that identifying genetic conditions in primary care requires a “systematic alertness” and a methodological approach must be applied when a genetic etiology is suspected, however, there is no standardized method for collecting FH data in the pediatric primary care setting and little evidence that any method of collecting FH is more effective than others. Even after gathering a detailed FH, many providers have difficulties interpreting the data they have collected and knowing what action to take next. This in combination with multiple findings that time is the largest barrier to the compilation of a complete FH make it difficult to justify taking the already limited time a provider has with the patient to collect a FH which may not be of great value to the provider.
Significance of Not Improving Family Health Histories
Like all other facets of care, FH should be collected using an evidence-based approach, which at this point in time is non-existent. As a tool for assessing chronic disease, it is essential to identify the elements of FH correlated with inherited or risk for disease. Multigenerational FHs are necessary not only identify family members who can benefit from genetic counseling but also for identifying those at risk for conditions which could be managed with increased monitoring and lifestyle changes. Studies on current FH practices suggest that primary care providers are not asking for histories beyond siblings, parents, and grandparents although aunts and uncles share the same amount of genetic information as grandparents and their inclusion is necessary for the detection of Medelian conditions. Many genetic disorders are diagnosed based on phenotype, family history, or both. This is why it is vital for providers to be familiar with presenting features of genetic conditions and their inheritance patters. FHs will not only serve as a tool for assessing risk but also for confirming a diagnosis, and as described by Scott & Trotter (2013): “A diagnosis can inform treatment, aid reproductive decision-making, identify other family members at risk, and alleviate the psychosocial burden of the diagnostic odyssey on families.”
Identifying patients at high risk will affect how the provider decides to treat and screen patients. Incidental finding which may be noted for follow up in some patients may be red flags requiring further investigations for families with significant FH. For example, a study looking at patients with a family history of cancer found that detailed family histories for young patients, starting at 18 years of age, can detect patient at higher risk for hereditary cancer syndrome. Follow up for an adolescent with severe and prolonged bleeding during her menstrual cycle will be very different with the knowledge that a first degree relative has von Willebrand disease. A toddler with café-au-lait spots will be monitored with greater caution if the provider is aware that the toddler’s aunt has a diagnosis of neurofibromatosis .
FH is not only used to guide treatment for patients with known conditions but also as a tool for preventative medicine. FH can be used as an educational tool for families because if a risk is identified, they can be educated on the signs and symptoms. For example, the identification of long QT syndrome in a family will prompt the provider to educate the family on fainting spells and signs of seizures, additionally they may also choose to do a more extensive sports physical before the child participates in any exercise programs. FH identifies patterns of inheritance and can guide a diagnostic workup which can be especially important in cases of developmental delay or intellectual disability where early intervention can lead to significantly better outcomes. Additionally, research has found that awareness of one’s family history can lead to positive behavior changes and healthier decisions.
Tarini & McInerney (2013) suggest that a pediatric approach could address barriers such as time and relevancy of the FH by taking a developmental stage approach where histories are updated depending on the life stage of the child. For example, a health history at a toddler’s visit would prompt the provider to ask about developmental and cognitive problems in the family, while a health history during an adolescent well exam would include information about family history of psychiatric conditions. This approach is similar to tailoring safety discussions to the child’s age (SIDS vs bike helmet). Updating the pedigree annually will give the parents a chance to report information they may not have remembered the previous year. However, this method has not been validated for use in the pediatric primary care setting.
Conclusion
FHs are important tools for assessing risk; preventing, detecting, and manage disease; and informing treatment. As the genetic contribution to disease become more evident, the significance of FH use in clinical practice increases. Despite this, studies have found that many pediatric primary care providers are not collecting sufficient information to identify patients at risk for either genetic or preventable chronic diseases. Pediatric primary care providers are in the ideal position to collect ongoing and detailed family health histories because of the frequency of pediatric well child visits, especially in the first two years of life. Moreover, a three-generation pedigree can provide preventative measures, opportunity for risk reduction, and early identification when updated regularly. Not taking an accurate family history is a missed opportunity for preventing disease and adopting behavior change. The challenge is to make FH updates as standardized as collecting and updating immunizations.
