Melanie F. Myers

Genetic Literacy of Undergraduate Non–Science Majors and the Impact of Introductory Biology and Genetics Courses

ABSTRACT With the advancement of genetic information and technologies, there is an increasing need for a genetically literate public. This study looks critically at student learning and at the current instruction of genetics in introductory non–science major biology and genetics courses at the undergraduate level. A new diagnostic tool, the Genetic Literacy Assessment Instrument, was administered pre- and postcourse to more than 300 students in six introductory nonmajor courses that emphasize genetics to varying degrees. Current data from students in these courses show a precourse average score of 43 percent correct zn the inventory. Postcourse scores increased only modestly, to an average of 49 percent. In this article, we discuss the impact of teaching methods and course content on scores, as well as student learning in the different content areas of genetics. The results suggest that further studies in genetics education are needed to better understand the effect of teaching methods on achieving genetic literacy.

Primary Care Providers’ Responses to Patient-Generated Family History

Family health history is one of the best predictors of an individual’s risk for common disease, yet it is underutilized in routine care. Although the Surgeon General has recommended consumers record their family health history and share it with their health care provider, providers’ perceptions of patient-generated family histories are unknown. To learn more about providers’ experience with and perceptions about patient-generated family histories, we mailed surveys to 301 providers and had a response rate of 24% (n = 68). Seventy-three percent felt a patient-generated computer pedigree would improve their ability to assess risk as compared to their current methods. Seventy percent felt a patient-generated computer pedigree would either have no effect on or would increase the number of patients that could be seen in a day. Results suggest that providers appreciate the potential benefits of patient-generated family histories. Genetic counselors and nurses are in a prime position to promote and facilitate the use of patient-generated family health histories in routine care.

Media Coverage of Direct-to-Consumer Genetic Testing

Media coverage of Direct-to-Consumer (DTC) genetic testing shapes public perception of such testing. The purpose of this study was to determine and assess the themes presented by U.S. news media regarding DTC genetic testing. We performed a Lexis-Nexis search with the keywords “Direct-to-Consumer” and “genetic test” for news stories published from 2006–2009. The sample was coded on themes of genetic determinism, privacy, discrimination, validity, regulation, the Genetic Information Nondiscrimination Act (GINA), utility, and cost. Ninety-two news stories were included. Stories displayed moderate genetic determinism and were neutral about validity and utility. Stories indicated that insurance and employers were the most likely sources of discrimination, yet identified the physicians and DTC companies as groups most likely to violate privacy. Stories claimed lack of regulation would harm consumers, but most post-GINA stories did not discuss the law. The costs of tests were frequently included. The results of this study show a broad range of views toward DTC genetic testing and its potential impacts. The genetics community should be aware that the public has been exposed to multiple views of DTC genetic testing when discussing these tests.

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing.

Purpose:Single-nucleotide polymorphism (SNP) microarrays are capable of detecting regions of homozygosity (ROH) that can suggest parental consanguinity or incest. This study was designed to describe the variable reporting practices of clinical laboratories in the United States regarding ROH found on SNP microarray tests, to discuss the follow-up practices of laboratory personnel when findings of ROH indicate consanguinity or incest, and to highlight the legal and ethical dilemmas faced by workers who have discovered these incidental findings.Methods:A 20-question survey was administered to microarray experts at 18 laboratories offering clinical SNP microarray tests. The results are presented using descriptive statistics.Results:There was variability in laboratory SNP microarray reporting practices with respect to information and interpretation of ROH findings. All the laboratories agreed that they have a duty to inform the ordering physician about results suggesting consanguinity or incest, but the follow-through practices varied among laboratories.Conclusions:This study discovered variability in reporting practices and follow-up procedures for microarray results that suggest parental consanguinity or incest. Our findings highlight the need for laboratory guidelines to standardize reporting practices for SNP microarray and other tests that are capable of detecting ROH.Genet Med 2012:14(12):971–976

Genetic services for common complex disorders: Surveys of health maintenance organizations and academic genetic centers

Purpose: To learn the extent to which HMOs and academic genetic centers (1) are involved in predictive genetic tests for common, complex disorders and (2) interact with each other.Methods: Surveys of HMO medical directors and directors of U.S. academic genetic centers.Results: In 1996, approximately 28% of HMOs were covering predictive tests for breast and colon cancer, but 75% of all medical directors said their HMO would consider policies regarding predictive testing in the next 5 years. Approximately 80% of directors of academic genetic centers said they provided genetic counseling services for common adult-onset disorders for patients covered by managed care organizations (MCOs), but they ranked the volume of services they provide for pediatric and prenatal indications much higher. Most academic genetic centers (72%) have contracts with MCOs.Conclusion: Although genetic services are being provided by academic genetic centers to patients who are members of managed care organizations, many patients with whom genetic testing for adult onset disorders is discussed may never see a geneticist. Academic genetic centers should educate nongeneticist professionals about the use of tests for common disorders.

Decisions to Seek Healthcare Based on Family Health History Among Urban Appalachian Women

Family health history (FHH) is a valuable health promotion tool that can be used to assess disease risk and make lifestyle and screening recommendations. However, few FHH resources exist for medically underserved populations such as the urban Appalachian community in Cincinnati Ohio. Women of Appalachian heritage with less than a college education who did and did not participate in a prior FHH education session were interviewed by phone in a semi-structured format. Interviewees were asked to discuss their understanding of FHH and the role FHH played in seeking (or not seeking) medical care. Analysis of their discussion identified four overarching themes as well as a model identifying conditions that facilitated or impeded the choice to seek medical care based on FHH. Findings from this study may be used to develop targeted FHH educational interventions in the urban Appalachian and other communities.

Mothers’ Perceptions of Family Health History and an Online, Parent-Generated Family Health History Tool:

Family health history (FHH) can identify families at increased risk for disease. Purpose. To learn mothers’ (1) perceptions of the benefits of FHH and (2) willingness to complete a FHH tool, My Family Health Portrait (MFHP). Methods. Qualitative in-depth interviews were conducted with mothers recruited through Cincinnati Children’s Hospital. Deductive and inductive codes were developed. Results. A total of 25 mothers were interviewed. Perceived benefits included keeping the pediatrician informed (n = 12; 48%) and preventive screenings recommended based on FHH (n = 10; 40%). Participants had positive impressions of MFHP and felt that it was user-friendly (n = 17; 68%). Lack of FHH knowledge was the most common challenge to completing MFHP, but most respondents stated that they would be able to complete MFHP prior to their child’s medical appointment (n = 23; 92%). Conclusion. Mothers are interested in and may be motivated to complete a parent-generated FHH prior to a pediatric appointment. Future research should focus on FHH implementation in practice.

Medical management adherence as an outcome of genetic counseling in a pediatric setting

Purpose:We sought to determine whether the inclusion of a genetic counselor in an initial pediatric genetics visit had an impact on patient adherence to management recommendations, as compared with initial visits in which only genetics physicians were involved.Methods:This chart review included 198 pediatric patients seen for their initial visit to the general genetics clinic at the Cincinnati Children’s Hospital Medical Center in 2008. Ninety-eight patients were seen by one or more genetics physicians (the non–genetic counselor group), and 100 patients were seen by a geneticist and a genetic counselor (the genetic counselor group). Medical management recommendations and evidence of adherence to recommendations were abstracted from the medical record; adherence rates were compared between the genetic counselor and non–genetic counselor groups.Results:Adherence was significantly associated with the inclusion of a genetic counselor (P = 0.009). Although type of management recommendation had a large impact on adherence, involvement of a genetic counselor significantly improved adherence in all three management recommendation categories.Conclusion:Involvement of a genetic counselor during an initial pediatric genetics visit may be associated with increased patient adherence. Further research is needed to determine whether this association applies in other genetic counseling settings and whether enhanced adherence results in improved medical outcomes.Genet Med 16 2, 157–163.

Genetic Laboratory Practices Related to Testing of the GJB2 (Connexin-26) Gene in the United States in 1999 and 2000

Given the rapidly growing area of molecular genetic laboratory testing, we sought to assess changing issues over a 2-year period of time pertaining to the availability of testing for GJB2 mutations associated with non-syndromic hearing loss. Laboratory assessments carried out by telephone interviews with directors or other key personnel revealed variations among laboratories in informed consent practices, evaluation of test requests for appropriateness, and the reporting of results. From 1999 to 2000, referral patterns shifted as did sources for reimbursement, policies regarding evaluation of incoming test requests, and reporting procedures. We propose that these results reflect changes occurring as a result of a new test moving from the research to the clinical phase.

Investigation of the Use of a Family Health History Application in Genetic Counseling

The paper-based pedigree is the current standard for family health history (FHH) documentation in genetic counseling. Several tools for electronic capture of family health data have been developed to improve re-use and accessibility, data quality and standardization, ease of updating, and integration with electronic medical records. One such tool, the tablet-based Proband application, provides a flexible approach to data capture in dynamic and diverse clinical settings. This study compared Proband FHH collection to paper-based methods and investigated the usability of Proband in a clinical setting. After one use by 23 genetic counselors and students, Proband had 91% accuracy with a FHH audio scenario, which was significantly less (p < 0.001) than paper’s 96% accuracy. These differences were attributed to incorrect or missing ages of grandparents (p < 0.001) and great-aunts/uncles (p = 0.012) and missing documentation of consanguinity (p < 0.001). Possible explanations for these differences include greater experience with paper FHH documentation and pre-populated prompts for consanguinity on the paper template used. Proband’s perceived usability increased with use, with individual System Usability Scores increasing between first and last use (p = 0.033). We conclude that tools for dynamic, provider-driven FHH documentation such as Proband show promise for improving risk assessment accuracy and quality patient care.