Family health history is a familiar clinical risk assessment tool. Traditionally, the FHH is a record of the health of genetically related family members, often depicted as a pedigree or family tree. The FHH usually includes information about three or four generations of family members [1
], including medical diagnoses, psychiatric diagnoses, known genetic mutations, general medical conditions or symptoms, complications of pregnancy, and cause of death for deceased family members [1
]. Although FHH has long been considered an important tool for risk assessment, its importance has been increased by genomic discovery and the resulting realization that most diseases are the result of complex interactions between multiple genes and environmental factors, all of which are reflected in the FHH [2
]. By analyzing a patient’s FHH, a clinician can identify diseases for which the patient is at increased risk. The patient can then be counseled to reduce modifiable risk factors for those diseases. This approach is an important component of personalized medicine and has the potential to reduce the incidence of serious and chronic disease [5
Because collecting and analyzing FHH requires significant time and resources, responsibility for collecting and documenting FHH is being shifted to the consumer [5
]. Electronic consumer health tools for this purpose are in development and production; examples include Family Healthware [12
] and OurFamilyHealth [13
]. The Surgeon General’s Family Health History Initiative is a well-known national FHH project. It provides an online FHH application for consumer use, My Family Health Portrait (available at https://familyhistory.hhs.gov
), hosted by the U.S. Department of Health and Human Services (HHS). This application enables a consumer to enter information about his own health and that of his genetic family members, save the information in a file on his computer, and create a printout to share with his health care providers [15
]. (A more complete description of My Family Health Portrait can be found in [15
Preliminary evaluations of consumer FHH tools have demonstrated both strengths and areas for improvement. For example, a validation study of My Family Health Portrait demonstrated that the data consumers entered about family risk of diabetes and certain cancers were similar to data obtained by a genetic counselor, though genetic counselors obtained more complete and accurate information about family risk of coronary artery disease and stroke [16
Analysis of OurFamilyHealth use demonstrated that users who elected to use the application were willing to spend a reasonable amount of time with it and entered information about a variety of diseases, but researchers noted that the number of family members in the histories was lower than ideal, and that a number of consumers arrived at the application and navigated away without using it [13
]. Additionally, consumers used the FHH to track different diseases than clinicians; for example, consumers tracked allergies and arthritis while clinicians were more likely to track FHH of cancer [13
Perhaps some of the unexpected consumer use patterns with FHH tools can be understood by examining certain implicit assumptions that underlie current consumer FHH tools. Because the tools are generally based on a clinical definition of FHH and clinicians’ needs regarding FHH, their successful use relies on consumers sharing the clinical understanding, knowledge, and value of FHH. Specifically, use of these tools assumes that (1) consumers know or have access to genetic FHH information; (2) consumers value FHH for the same reasons clinicians do, that is, for examining genetic inheritance; and (3) the approach and format for FHH used in clinical practice, that is, collecting and documenting information about each individual family member to create a pedigree or family tree, is a reasonable approach and format for consumers to use.
Preliminary evaluations of these tools have been conducted with volunteer populations that tend to be motivated, young, and well educated. The suitability of consumer FHH tools for more diverse populations is yet to be determined. People from complex and diverse families are a group that may especially be expected to have difficulty with traditional genetic FHH tools, because their experience of family is markedly different than the genetic family of clinical FHH interest. Complex and diverse families are non-genetically defined families, including families formed by adoption; single parent families; same sex couples with and without children; and blended families in which the mother, father, or both have had children with more than one partner, resulting in multiple step parent, step sibling, and half sibling relationships. These complex and diverse families make up a substantial and growing proportion of American families [17
]. Therefore, meeting the FHH needs of this group is an important priority.
This project employed lab-based usability testing to identify potential challenges that people from complex and diverse families may have when attempting to use a typical genetic FHH consumer application. Identifying these challenges may provide baseline knowledge for future FHH research with complex and diverse families, and may help provide insight about inaccuracies in the assumptions about consumers and FHH that are implicit in consumer FHH tools.