The purpose of this study was to assess primary care physicians' awareness, experience, opinions and preparedness to answer patients' questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education of providers will be necessary if testing becomes more widespread.

Background: Focus groups were conducted in a mid-sized community to explore community members’ awareness and perceptions of genomic medicine and identify effective methods to educate the public about this topic. Methods: Thirteen focus groups were conducted with a demographically representative pool of 121 participants using a semi-structured interview guide. Transcripts were analyzed through a computer assisted approach with Atlas TI consisting of coding, categorizing, comparing, and contrasting relevant data. Results: Identified categories were organized into 6 main themes, which were similar across the groups and included: a lack of awareness, perceived benefits, concerns about genomic medicine, reasons for poor health related behavior, the potential impact of genetic information on health behavior, and the best ways to educate the community. Common concerns included lack of affordability, unanticipated physical harm, mistrust of the government and researchers, downstream effects like overpopulation, playing God/disturbing the natural order, lack of regulations, loss of privacy, genetic discrimination, and moral dilemmas posed by genetic engineering, cloning, choosing traits, and abortions resulting from genetic information. Participants also discussed ways to educate the community. Conclusions: While individuals recognized that diseases run in families, personal experience was a driving factor in participants’ level of knowledge. Many expressed optimism about genomic medicine. However, the lack of depth in responses and their misconceptions reflect a deficiency of knowledge, which along with their personal, moral, and global concerns could impede acceptance and utilization of genomic medicine. Many community members are receptive to learning more about genomic medicine, and many of their concerns and misconceptions can be addressed through a well designed education strategy.

BackgroundThe CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research) framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina.Methods/DesignThe family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome).DiscussionThis study integrates a computerized family health history system within the context of a routine well-visit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers. Results of the implementation process, its acceptability to patients and providers, modifications necessary to optimize the system, and impact on clinical care can serve to guide future implementation projects for both family history and other tools of personalized medicine, such as health risk assessments.

Main concept: DNA is the universal information molecule; it allows for genetic variation within and genetic continuity between generations.

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient's questions and manage their care should be used when creating educational programs.