Linda Pinsky

Reconsidering the family history in primary care.

OBJECTIVE: The purpose of this paper is to review the role of the family history in predictive genetic testing, describe how family history taking is practiced in adult primary care, identify the current barriers to appropriate application of the family history, and outline the requirements for a new family history tool for primary care.DESIGN: We reviewed current perspectives on the family history, identifying key references in the medical literature and web-based family history tools through discussions with multiple content experts in clinical genetics, family medicine, and internal medicine. We conducted a Medline query using the search terms family history and primary care to identify references from the past 10 years. To illustrate the usefulness of family history information, we calculated the predictive value of family history and genetic information for familial adenomatous polyposis using current references and standard formulas. We identified paper and web-based family history tools through discussions with content experts. We also conducted a search on the World Wide Web to identify resources for electronic medical record and family history.RESULTS: The family history is the most important tool for diagnosis and risk assessment in medical genetics, and promises to serve as a critical element in the use of predictive genetic testing in primary care. Traditional medical education about family history has often been unsophisticated and use of family history in adult primary care has been limited, compounded by multiple substantive barriers. Although there are numerous paper and computer-based aides for taking the family history, none currently meets all the needs of adult primary care.CONCLUSIONS: The patient’s family history remains a critical element in risk assessment for many conditions, but substantive barriers impede application in primary care practice, and evidence for its contribution to improved health outcomes is limited in this setting. Short of radical changes in reimbursement, new tools will be required to aid primary care physicians in the efficient collection and application of patient family history in the era of genetic testing.

A conceptual framework for developing teaching cases : a review and synthesis of the literature across disciplines

Context  Case‐based teaching is regarded as a superior instructional method compared with lectures in promoting a learners critical thinking skills. While much is known about the role a discussion facilitator plays in case‐based teaching, the debate on the influence of the format and structure of cases on learning is controversial.

Genetics in Primary Care: A USA Faculty Development Initiative

The Genetics in Primary Care (GPC) project is a USA national faculty development initiative with the goal of enhancing the training of medical students and primary care residents by developing primary care faculty expertise in genetics. Educational strategies were developed for the project by an executive committee with input from an advisory committee, comprising individuals with primary care, medical education and genetics expertise. These committees identified the key issues in genetics education for primary care as (1) considering inherited disease in the differential diagnosis of common disorders; (2) using appropriate counseling strategies for genetic testing and diagnosis, and (3) understanding the implications of a genetic diagnosis for family members. The group emphasized the importance of a primary care perspective, which suggests that the clinical utility of genetic information is greatest when it has the potential to improve health outcomes. The group also noted that clinical practice already incorporates the use of family history information, providing a basis for discussing the application of genetic concepts in primary care. Genetics and primary care experts agreed that educational efforts will be most successful if they are integrated into existing primary care teaching programs, and use a case-based teaching format that incorporates both clinical and social dimensions of genetic disorders. Three core clinical skills were identified: (1) interpreting family history; (2) recognizing the variable clinical utility of genetic information, and (3) acquiring cultural competency. Three areas of potential controversy were identified as well: (1) the role of nondirective counseling versus shared decision-making in discussions of genetic testing; (2) the intrinsic value of genetic information when it does not influence health outcomes, and (3) indications for a genetics referral. The project provides an opportunity for ongoing discussion about these important issues.

How excellent teachers are made : Reflecting on success to improve teaching

The authors surveyed forty-eight distinguished teachers from clinical departments regarding the role of instructional successes in learning to teach. Using qualitative content analysis of comments, the authors identified nine common successes in clinical teaching associated with planning, teaching, and reflection. In anticipatory reflection used for planning, common successes occurred by involving learners, continuously innovating, creating a positive atmosphere for learning, considering the learners, engaging the learners, preparing adequately, and limiting content. When reflecting-in-action, the success experience most commonly mentioned was maintaining flexibility in action. Reflecting-on-action after a successful teaching event, they commented on the importance of thoughtful analysis and choosing an appropriate strategy. These teachers incorporated reflective practice into their teaching as an essential component of professional development and incrementally improved their teaching based upon successful instructional experiences.

A picture is worth a thousand words: practical use of videotape in teaching.

Videotapes, through vividly displayed clinical images and teaching interactions, are valuable tools for both learners and teachers. Visual images in combination with verbal instruction have been shown to significantly increase recall and retention. Many clinicians and medical teachers are aware of videotape resources, but have not had a chance to develop their use in medical education. In this paper, we discuss creative applications of videotapes in three major categories: presenting information, triggering discussion, and as a tool for direct self-observation and feedback. Videotapes may be valuable for presenting information in settings of didactic instruction; for triggering discussion during teaching workshops; and for self-observation of patient-doctor interactions and learner-teacher encounters. The article presents learner-centered approaches to review a videotaped clinical encounter in order to enhance value and comfort for the learner and teacher. Sources of tapes include on-site videotaping, published educational tapes and commercial tapes shown in accordance with fair use guidelines, examples of which are referenced. Videotapes add another dimension to traditional sources of physician education.

Diving for PERLS: Working and Performance Portfolios for Evaluation and Reflection on Learning

Professional competence requires a commitment to lifelong learning, self-assessment, and excellence. Complex skills such as these require flexible and comprehensive teaching and assessment measures. We describe a combination of working and performance portfolios that both foster and evaluate the development of professional competence. We explain the conceptual and practical underpinnings that maximize the effectiveness of these tools. Drawing on experience with University of Washington residents, we identify 5 criteria that can help promote successful use of portfolios: separate working and performance functions of portfolios, developing a supportive climate, developing skills in faculty and residents, observing progress over time, and fostering mentorship opportunities.

Family History Assessment to Detect Increased Risk for Colorectal Cancer: Conceptual Considerations and a Preliminary Economic Analysis

Background: Although the rationale for earlier screening of persons with a family history of colorectal cancer is plausible, there is no direct evidence that earlier assessment is either effective or cost-effective. Objective: To estimate the clinical and economic effect of using family history assessment to identify persons for colorectal cancer screening before age 50. Methods: We developed a decision model to compare costs and outcomes for two scenarios: (a) standard population screening starting at age 50; (b) family history assessment at age 40, followed by screening colonoscopy at age 40 for those with a suggestive family history of colorectal cancer. The analysis was conducted using the health insurer perspective. Results: Using U.S. population estimates, 22 million would be eligible for family history assessment, and one million would be eligible for early colonoscopy; 2,834 invasive cancers would be detected, and 29,331 life years would be gained. The initial program cost would be

Review: Engaging Women's Interest in Colorectal Cancer Screening: A Public Health Strategy

900 million. The discounted cost per life year gained of family history assessment versus no assessment equals

Hereditary hemochromatosis: perspectives of public health, medical genetics, and primary care.

58,228. The results were most sensitive to the life expectancy benefit from earlier screening, the cost of colonoscopy, and the relative risk of colon cancer in those with a family history. Conclusions: The cost-effectiveness of family history assessment for colorectal cancer approaches that of other widely accepted technologies; yet, the results are sensitive to several assumptions where better data are needed. Because of the relatively high prevalence of family history in the population, careful analysis and empirical data are needed.

Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties

Screening rates for colorectal cancer are unacceptably low. New guidelines, public education campaigns, and expanded coverage of screening costs by healthcare insurance are expected to increase screening rates, but interventions targeting women may accelerate this change. Most American women already participate in regular cancer screening, in the form of Papanicolaou (Pap) tests and mammography, so they may be receptive to tailored messages about the need to add regular colorectal cancer screening to their preventive health regimen. In addition, their role in promoting the health of family members may position women to influence screening behavior in family and friends. Women may be particularly valuable change agents in populations where screening rates are traditionally low, such as medically underserved populations, the elderly or low socioeconomic status groups with competing health priorities, and populations with cultural values or practices inconsistent with the adoption of a new screening behavior. To serve as agents of change in their family and social networks, women must understand that colorectal cancer is not solely a mans disease and that the benefits of colorectal screening are similar to those of Pap testing and mammography. Colorectal cancer screening should also be promoted within a framework of a lifelong strategy for health maintenance for both men and women. The message to women should emphasize the value of colorectal cancer screening rather than the disagreement among experts over preferred screening strategies and should emphasize the value of shared decision making between the patient and her healthcare provider.