Family History in Pediatric Primary Care

University of California, San Francisco, San Francisco, California, United States
PEDIATRICS (Impact Factor: 5.47). 10/2007; 120 Suppl 2(Supplement):S60-5. DOI: 10.1542/peds.2007-1010D
Source: PubMed


The family history is a critical element in pediatric medicine and represents the gateway to the molecular age of medicine for both pediatric clinicians and their patients. The pediatric clinician has several opportunities to obtain a family history and multiple clinical and educational uses for that information. Available methods include paper and digital forms, classical pedigrees, online programs, and focused family history at the time of a new diagnosis or problem. Numerous barriers impede the application of family history information to primary pediatric practice. The most common barrier is the limited amount of time the typical primary care encounter allows for its collection. The family history can be used in many facets of pediatric practice: (1) as a diagnostic tool and guide to testing and evaluation; (2) to identify patterns of inheritance; and (3) as a patient-education tool. The most exciting future use of family history is as a tool for public health and preventive medicine. More accurately identifying children at risk for common chronic conditions such as diabetes, asthma, and cardiovascular disease could change the primary care clinician's approach to pediatric medicine.

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    • "Despite previous studies showing improved patient identification of serious disease states by standardizing family history practices [O'Neill et al., 2009; Cohn et al., 2010; Qureshi et al., 2012], providers in this study reported poor compliance with taking three-generation family histories and large variations in information collected during the family history, including only 8% of providers asking about consanguinity. This finding supports previous research [Suchard et al., 1999; Trotter and Martin, 2007; Bishop et al., 2008; Kemper and Bailey, 2009], and points to a persistent need for intervention to improve family health history taking and breaking down potential consanguinity taboos [Bishop et al., 2008], even in physicians who self-report feeling competent in caring for genetics patients [Guttmacher et al., 2004; Pyeritz, 2012]. While previous studies suggest computer systems can improve family history taking [Acheson et al., 2006; O'Neill et al., 2009; Cohn et al., 2010; Orlando et al., 2011], PCPs in our study reported dissatisfaction with their electronic health records' abilities to collect and facilitate a three-generation family history. "
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    ABSTRACT: Given the integral role primary care pediatricians (PCPs) play in caring for children with genetic conditions, we aimed to identify current practices of PCPs regarding genetic patients, their attitudes toward genetic medical care and their choices regarding family history taking. We conducted an on-line survey of a national convenience sample of PCPs associated with the American Academy of Pediatrics' Quality Improvement Innovation Networks. Eighty-eight respondents (29% response rate) were included in the analysis. Seventy-four (86%) reported ordering genetic based tests three or less times annually. Eleven (13%) strongly agreed that they discuss with patients the potential risks, benefits, and limitations of genetic tests. Forty-three (49%) agreed or strongly agreed that they feel competent in providing healthcare to patients related to genetics and genomics. Perceived competence was not associated with more recent training (P = 0.29), number of genetic tests ordered annually (P = 0.84) or mean number of weekly patient encounters (P = 0.15). 100% of participants stated that taking a family history is important. 27 (31%) agreed or strongly agreed that they gather a minimum of a three-generation family history. Forty-one of the 63 participants with an electronic health record (65%) reported their system was fair or poor in its ability to easily capture a three-generation family history. PCPs interested in quality improvement reported variation in care practices for children with genetic diseases and a majority did not feel competent to provide genetic related healthcare. Research should focus on improving the care and diagnosis of children with genetic disorders and enhanced integration of genetic medicine into routine primary preventative care. © 2013 Wiley Periodicals, Inc.
    Full-text · Article · Feb 2014 · American Journal of Medical Genetics Part A
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    • "In 2006, the Centers for Disease Control and Prevention sponsored a workgroup meeting to discuss the role of family medical history in pediatric primary care and public health, including its use as a tool for prevention (Green, 2007). Workgroup members referred to an accurate family history as the ''gateway to the molecular age of medicine'' (Trotter & Martin, 2007), as it encompasses the complex interactions of genes and lifestyle that may someday characterize genomic testing. The results of the workgroup meeting highlight the use of family history as a tool for preventive medicine, for major chronic diseases, for early signs of diseases, and the behaviors evidenced early in life that may underlie them (Valdez et al., 2007). "
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    ABSTRACT: To examine the influences of disease, lifestyle, and other factors on adolescent medical providers' willingness to recommend genetic susceptibility testing (GST). Providers attending a national conference completed a self-report survey (n = 232) about their willingness to recommend hypothetical GSTs, differentiated by disease (nicotine addiction/lung cancer), patient lifestyle (nonsmoker/smoker), and other contextual factors. Compared to recommending GST unconditionally, providers were more willing to recommend GST with parental/patient consent/assent, and in the presence of a preexisting illness and substance abuse history. Compared to offering nicotine addiction GST to a nonsmoker, providers were more willing to offer this type of testing to a smoker and were more willing to offer GST for lung cancer regardless of patient lifestyle. Providers' willingness to recommend GSTs is sensitive to many factors. Efforts to integrate GST into adolescent preventive care likely will need to address these and other influences on provider behavior.
    Full-text · Article · Sep 2008 · Journal of Pediatric Psychology
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    ABSTRACT: Background and Aims: A comprehensive family health history still offers the best data for calculating risk of most complex diseases, but lack of informant accu-racy hinders its use. Young adults transitioning from the parental home to more independent university life may be poor historians. The purpose of this study was to describe the quality of family health information acquired by young university students and to charac-terize the process by which they learn family health facts. Methods: Thematic content analysis was ap-plied to interviews with undergraduate students en-rolled in diverse classes across disciplines at a public US university. Results: Two processes, hanging around and trickling down, described the ways young adults learned family health information. The majority of respondents described both empowerment and a sense of vulnerability that resulted from having their family health information. Conclusions: Family health history provided by young adult students is charac-terized by inaccuracies related to lack of information and misunderstanding of information that is available. Young students are typically transitioning from the care of local primary care physicians into relation-ships with new healthcare providers, and are inter-ested in family health history. Thus, this transition is an opportunity for nurses to construct an organized family health history with them.
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