Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance.

Several barriers inhibit collection and use of detailed family health history (FHH) in primary care. MeTree, a computer-based FHH intake and risk assessment tool with clinical decision support, was developed to overcome these barriers. Here, we describe the impact of MeTree on genetic counseling (GC) referrals and attendance. Non-adopted, English speaking adults scheduled for a well-visit in two community-based primary-care clinics were invited to participate in an Implementation-Effectiveness study of MeTree. Participants' demographic characteristics and beliefs were assessed at baseline. Immediately after an appointment with a patient for whom GC was recommended, clinicians indicated whether they referred the patient and, if not, why. The study genetic counselor kept a database of patients with a GC recommendation and contacted those with a referral. Of 542 patients completing MeTree, 156 (29 %) received a GC recommendation. Of these, 46 % (n = 72) were referred and 21 % (n = 33) underwent counseling. Patient preferences, additional clinical information unavailable to MeTree, and an incomplete clinician evaluation of the FHH accounted for the 85 patients clinicians chose not to refer. Although MeTree identified a significant proportion of patients for whom GC was recommended, persistent barriers indicate the need for improved referral processes and patient and physician education about the benefits of GC.

Collection of family health history for assessment of chronic disease risk in primary care.

BACKGROUND: Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care. METHODS: Family health history data were collected and analyzed to determine the presence of quality indicators that are necessary for effective and accurate assessment of disease risk. RESULTS: More than 99% of the 390 paper charts analyzed contained information about family health history, which was usually scattered throughout the chart. Information on the health of the patient's parents was collected more often than information on the health of other relatives. Key information that was often not collected included age of disease onset, affected side of the family, and second-degree relatives affected. Less than 4% of patient charts included family health histories that were informative enough to accurately assess risk for common complex diseases. LIMITATIONS: Limitations of this study include the small number of charts reviewed per provider, the fact that the sample consisted of primary care providers in a single geographic location, and the inability to assess ethnicity, consanguinity, and other indicators of the informativeness of family health history. CONCLUSIONS: The family health histories collected in primary care are usually not complete enough to assess the patient's risk for common complex diseases. This situation could be improved with use of tools that analyze the family health history information collected and provide risk-stratified decision support recommendations for primary care.

Development and validation of a primary care-based family health history and decision support program (MeTree).

INTRODUCTION: Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to guide selection of primary prevention strategies. However, the collection and synthesis of such information is not well integrated into clinical practice. To address barriers to collection and use of family health histories, the Genomedical Connection developed and validated MeTree, a Web-based, patient-facing family health history collection and clinical decision support tool. MeTree is designed for integration into primary care practices as part of the genomic medicine model for primary care. METHODS: We describe the guiding principles, operational characteristics, algorithm development, and coding used to develop MeTree. Validation was performed through stakeholder cognitive interviewing, a genetic counseling pilot program, and clinical practice pilot programs in 2 community-based primary care clinics. RESULTS: Stakeholder feedback resulted in changes to MeTree's interface and changes to the phrasing of clinical decision support documents. The pilot studies resulted in the identification and correction of coding errors and the reformatting of clinical decision support documents. MeTree's strengths in comparison with other tools are its seamless integration into clinical practice and its provision of action-oriented recommendations guided by providers' needs. LIMITATIONS: The tool was validated in a small cohort. CONCLUSION: MeTree can be integrated into primary care practices to help providers collect and synthesize family health history information from patients with the goal of improving adherence to risk-stratified evidence-based guidelines.

The use of a family history risk assessment tool within a community health care system: views of primary care providers.

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients. The PCPs were concerned about their level of expertise, the cost of preventive health care, and genetic discrimination. They also were concerned about the use of a FHH tool by oncologists within the CHCS because of communication gaps between oncologists and PCPs, lack of clarity regarding follow-up and legal liability, and reimbursement issues. To integrate a FHH tool into a CHCS, PCPs will need consultation and referral services, evidence-based recommendations, and "just-in-time" educational resources. Oncologists who use the tool will need to develop a streamlined communication system with PCPs, establish clearly defined roles, and ensure patient follow-up.

Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing.

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.

Educational needs of primary care physicians regarding direct-to-consumer genetic testing.

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.

Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system.

BACKGROUND: The 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/DESIGN: The 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). DISCUSSION: This 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.

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care.

PURPOSE: To assess the lay public's knowledge of, and beliefs about, genetics and genetic testing to create an educational initiative that promotes acceptance and utilization of genomic medicine in primary health care. METHODS: A telephone survey of English-speaking adults in Guilford County, North Carolina was conducted in 2006 to identify community members' educational needs regarding genetics and genetic testing. RESULTS: Most respondents recognized the connection between family history and disease risk. A majority did not appear to know about: (1) basic principles of inheritance, (2) laws prohibiting genetic discrimination, and (3) the availability and limitations of genetic tests. About 25% thought that they could not reduce their risk if they have a genetic predisposition for disease. Knowledge level was affected by education, experience, age, and race. CONCLUSION: If primary care providers use family history as a risk assessment tool, community education programs must address (1) the collection of family health history, (2) legislation regarding genetic nondiscrimination, (3) benefits and limitations of existing genetic tests, and (4) genetic determinism. Programs emphasizing practical, "how to" information can be targeted to individuals likely to collect family history information and address misperceptions about discrimination, testing, and determinism.

Assessment of allied health graduates' preparation to integrate genetic knowledge and skills into clinical practice.

Allied health professionals are in a unique position to address the concerns of and provide information to clients with genetic disorders. This study assessed the preparation of recent graduates of allied health training programs to provide these services by determining their (1) professional practices, (2) confidence in performing skills that require genetic knowledge, (3) extent of genetic training, and (4) interest in genetic topics. A survey was sent to 698 alumni of six allied health training programs who graduated between 1997 and spring 2002 from a midwestern university. A total of 235 alumni responded to the survey (34%). Forty-three percent of respondents reported discussing at least one of eight topics, such as patterns of inheritance, recurrence risks, genetic testing, and characteristics of genetic conditions and/or prognosis. Referrals for genetic services were made by 12.6% of respondents. Of the 10 genetic assessment, counseling, and referral skills that were assessed, eliciting family history was the skill most commonly performed. Many respondents discussed the genetic basis of disorders, provided guidance to clients about the impact of their condition, and corrected misconceptions. Only 22% of the respondents rated the amount of genetic knowledge/skills covered in training as satisfactory, and 78% rated it as marginal or none. However, there is strong interest in genetic topics, especially related to common disorders. A correlation was found between the respondents' training and confidence in performing these skills. Allied health professionals are providing genetic-related services in clinical settings. However, sufficient instruction in genetic knowledge and skills is not being provided in their undergraduate and graduate training programs. Preservice and continuing educational interventions designed to prepare allied health professionals for the genetic age are needed. This study establishes baseline data regarding professional practices and perceived clinical confidence related to genetics that can be used to develop and evaluate the effectiveness of future educational interventions.

A success of a genetics educational intervention for nursing and dietetic students: A model for incorporating genetics into nursing and allied health curricula.

Allied health care professionals and nurses provide genetic-related client services, such as eliciting family medical history information and discussing the genetic component of health conditions. However, these professionals report a lack of confidence in their ability to perform genetic services and have little formal education in genetics. A barrier to incorporating genetics into allied health curricula includes the limited flexibility to expand curricula. This barrier was addressed by incorporating a Web-based tutorial on basic genetics and a lecture on the genetics of diabetes into preexisting undergraduate nutrition courses for nursing and dietetic students. The vast majority of students enrolled in these required courses participated in the intervention. Most participants agreed that genetics is important to their future career. Following the intervention, students' knowledge of genetics and confidence in their ability to provide genetic-related services increased significantly. Despite the short-term success and positive student evaluations, a single educational intervention does not appear to be sufficient for students to become proficient in performing the recommended genetic competencies for all health care professionals. Recommendations and resources for incorporating genetics into allied health curricula are included.

Genetics internet resources for allied health professionals.

As the field of genetics continues to grow at a rapid rate, so does the application to patient care delivered by allied health professionals. At the same time, it has been shown that allied health professionals often lack confidence in their knowledge of genetics as a result of limited education about genetics. The current study was an interdisciplinary effort devised to explore Internet resources for learning about human genetics as they apply to the allied health professions. A rating scale was developed to assess the format and the content of the websites and to assess other websites that may be identified in the future. Four of the seven websites that received the highest mean ratings are discussed in more detail. Two of the websites address basic concepts in genetics, and the other two provide resources for current topics and research in genetics as it pertains to patient care.

Long-term survival in a patient with del(18)(q12.2q21.1).

The 18q- syndrome is relatively common among cytogenetic abnormalities occurring in approximately 1 in 40,000 live births. However, interstitial deletions involving 18q12.2 to q21.1 are much less common. Only 15 cases have been reported in the literature. A phenotypic pattern is emerging of mild dysmorphic features, mental retardation, behavior abnormalities, and the lack of serious malformations. We present a 67-year-old woman with minor dysmorphic features, moderate mental retardation, hyperphagia, and del(18)(q12.2q21.1). This patient is presented for the natural history of this deletion syndrome as well as the behavioral phenotype.