Lori H. Erby

The Angelina effect: immediate reach, grasp, and impact of going public

Background:In May 2013, Angelina Jolie revealed in a New York Times opinion piece that she had undergone a preventive double mastectomy because she had a family history of cancer and carried a rare mutation of the BRCA1 gene. Media coverage has been extensive, but it is not obvious what messages the public took from this personal health story.Methods:We conducted a survey with a representative national online panel of 2,572 adults. Participants described their awareness and identified information sources for the Angelina Jolie news story. They also reported their understanding, reactions, perceptions, and subsequent activities related to the story. We asked questions pertaining to personal and societal breast cancer risk and hypothetical questions regarding preventive surgery if the respondent or a family member were in the same position as Ms Jolie. Demographic information was collected, as was family risk for breast and ovarian cancer, and a gauge of numeracy.Results:While three of four Americans were aware of Angelina Jolie’s double mastectomy, fewer than 10% of respondents had the information necessary to accurately interpret Ms Jolie’s risk of developing cancer relative to a woman unaffected by the BRCA gene mutation. Awareness of the Angelina Jolie story was not associated with improved understanding.Conclusion:While celebrities can bring heightened awareness to health issues, there is a need for these messages to be accompanied by more purposeful communication efforts to assist the public in understanding and using the complex diagnostic and treatment information that these stories convey.Genet Med 16 7, 516–521.

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers

Purpose: As direct-to-consumer genetic testing becomes more available, a diverse group of consumers, including those with limited health literacy, may consider testing. In light of concerns raised about direct-to-consumer genetic testing, this study sought to critically examine whether the informational content, literacy demands, and usability of health-related direct-to-consumer websites met existing recommendations.Methods: A content analysis was performed on 29 health-related direct-to-consumer websites. Two coders independently evaluated each website for informational content (e.g., benefits, limitations), literacy demands (e.g., reading level), and usability (e.g., ease of navigation).Results: Most sites presented health conditions and some markers for which they tested, benefits of testing, a description of the testing process, and their privacy policy. Fewer cited scientific literature, explained test limitations, or provided an opportunity to consult a health professional. Key informational content was difficult to locate on most sites. Few sites gave sample disease risk estimates or used common language and explained technical terms consistently. Average reading level was grade 15.Conclusion: The quality of informational content, literacy demands, and usability across health-related direct-to-consumer websites varied widely. Many users would struggle to find and understand the important information. For consumers to better understand the content on these sites and evaluate the meaning of the tests for their health, sites should lower the demands placed on users by distilling and prioritizing the key informational content while simultaneously attending to the reading level and usability elements. In the absence of regulation compelling such changes, government agencies or professional organizations may need to increase consumer and provider awareness of these issues.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM‐related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice‐site mutation. Genotype–phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot–Marie–Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue‐specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33:949–959, 2012.

Adaptation to living with a genetic condition or risk: a mini-review.

One goal of genetic counseling is to facilitate client adaptation to a genetic condition or risk. Adaptation refers to both the process of coming to terms with the implications of the condition or risk and the observable outcomes of that process. This review summarizes existing studies on how well clients adapt to living with a common chronic disease, and more specifically, a genetic condition. Overall, it appears that about one‐third of clients do not adjust well to the stress of living with a genetic condition or at risk. However, the data are limited by inconsistencies in the conceptualization of adaptation, a paucity of theoretical models, poor study design and inadequate outcome measures. Well‐designed studies based upon multidimensional models are needed that focus on familial as well as individual adaptation. We conclude with a summary of studies that have explored the use of interventions to enhance adaptation and suggest improved client outcomes. Further research should result in evidence‐based interventions to facilitate client adaptation that can be used effectively by genetic providers within the confines of their clinical work.

Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations

An informed choice about health-related direct-to-consumer genetic testing (DTCGT) requires knowledge of potential benefits, risks, and limitations. To understand the information that potential consumers of DTCGT services are exposed to on company websites, we conducted a content analysis of 23 health-related DTCGT websites. Results revealed that benefit statements outweighed risk and limitation statements 6 to 1. The most frequently described benefits were: 1) disease prevention, 2) consumer education, 3) personalized medical recommendations, and 4) the ability to make health decisions. Thirty-five percent of websites also presented at least one risk of testing. Seventy-eight percent of websites mentioned at least one limitation of testing. Based on this information, potential consumers might get an inaccurate picture of genetic testing which could impact their ability to make an informed decision. Practices that enhance the presentation of balanced information on DTCGT company websites should be encouraged.

Oral literacy demand of prenatal genetic counseling dialogue: Predictors of learning

OBJECTIVE To assess the relationship between the oral literacy demand of genetic counseling sessions and the ability of low literate subjects to learn genetics-related information. METHODS Ninety-six simulated genetic counseling sessions were videotaped and shown to 312 subjects recruited to imagine themselves as the sessions client. Study measures included oral literacy demand, operationalized as: (1) use of key genetics terms; (2) informational context; (3) general language complexity; and (4) structural characteristics of dialogue interactivity. The study outcome was learning of genetics-related information. RESULTS Subjects with restricted literacy (below 8th grade level) learned more when viewing sessions with greater dialogue interactivity and more personally contextualized information. Subjects with adequate literacy skills, however, tended to learn less in low literacy demand sessions. CONCLUSION The oral literacy demand of medical dialogue represents a learning obstacle to low literate subjects. However, this may not be the case for those with greater literacy skills who can understand the complex language and process the dense informational load of high demand sessions. PRACTICE IMPLICATIONS In order to meet the educational needs of all patients, clinicians must attend to both the informativeness and the oral literacy demand of their communication.

Veterans' attitudes regarding a database for genomic research

Purpose: Large cohort studies to investigate interactions between genes, environment, and lifestyle require large representative samples of the population. The Department of Veterans Affairs health care system is uniquely positioned to carry out such research, with a large patient population and a sophisticated system of electronic medical records. As Veterans Affairs considers establishing a large database of genetic information and medical records for research purposes, a survey of 931 Veterans Affairs patients was carried out to measure their willingness to participate, what their concerns would be, and their preferences about some aspects of study design.Methods: A sample of veterans who receive Veterans Affairs health care was surveyed online in April and May of 2008. The proposed genomic study was described to respondents, who then were asked about their support for the study and willingness to participate, and their opinions about the study and some of its components. A descriptive analysis examined differences in attitudes among demographic groups, and whether general beliefs were associated with support or willingness to participate.Results: Most respondents (83%) said the database should definitely or probably be created, and overall, 71% said they would definitely or probably participate.Conclusion: Majorities of Veterans Affairs health patients in a broad range of demographic groups supported the establishment of a genomic database and showed willingness to participate. Although the desire to learn about ones own health from the study was high, altruistic characteristics were strongly related to whether or not veterans would participate.

The relationship between the genetic counseling profession and the disability community: A commentary

Since the inception of the field of genetic counseling, the profession has had a tenuous relationship with the disability community. Genetic counselors both offer prenatal diagnostic testing that allows individuals the opportunity to avoid the birth of a child with a disability and they advocate for the rights of individuals who have a disability. Some in the disability rights community have argued that they feel their lives and the lives of the disabled individuals in their families judged by the offer of prenatal genetic diagnosis and by the attitudes of genetic service providers they encounter in clinical settings. Select voices from the disability community fear that the result of developing technologies may contribute to a world less tolerant of disabilities. The available empirical data suggest that genetic counselors do little to counteract these perspectives. Although limited, investigations into the attitudes and practices of genetic counselors suggest that they have a more negative perspective on disabilities than individuals whose lives are directly affected by them and these attitudes may affect their description of disabling conditions in a prenatal setting. The National Society of Genetic Counselors, the organization that represents the profession in the US has more publicly aligned itself with abortion service providers over disease advocacy organizations, thus subjecting itself to the perception of bias. We suggest possible solutions to these criticisms and argue that individually and collectively, genetic counseling professionals should develop and identify opportunities to more fully support and advocate for the needs of a broader spectrum of clients.

Examination of standardized patient performance: accuracy and consistency of six standardized patients over time.

OBJECTIVE To explore the accuracy and consistency of standardized patient (SP) performance in the context of routine genetic counseling, focusing on elements beyond scripted case items including general communication style and affective demeanor. METHODS One hundred seventy-seven genetic counselors were randomly assigned to counsel one of six SPs. Videotapes and transcripts of the sessions were analyzed to assess consistency of performance across four dimensions. RESULTS Accuracy of script item presentation was high; 91% and 89% in the prenatal and cancer cases. However, there were statistically significant differences among SPs in the accuracy of presentation, general communication style, and some aspects of affective presentation. All SPs were rated as presenting with similarly high levels of realism. SP performance over time was generally consistent, with some small but statistically significant differences. CONCLUSION AND PRACTICE IMPLICATIONS These findings demonstrate that well-trained SPs can not only perform the factual elements of a case with high degrees of accuracy and realism; but they can also maintain sufficient levels of uniformity in general communication style and affective demeanor over time to support their use in even the demanding context of genetic counseling. Results indicate a need for an additional focus in training on consistency between different SPs.

The role of numeracy on client knowledge in BRCA genetic counseling.

OBJECTIVE To assess the impact of numeracy and health literacy on clients ability to learn information orally communicated during a BRCA 1/2 genetic counseling session. METHODS Fifty-nine videotaped simulated genetic counseling sessions were shown to 246 analogue clients (AC) recruited to imagine themselves as the client in the genetic counseling session. AC numeracy, genetic literacy, state and trait anxiety, and decisional conflict were assessed. The primary outcome was AC learning about BRCA 1/2. RESULTS Health literacy and numeracy were moderately correlated, and each independently predicted learning. Higher numeracy was associated with higher knowledge scores only among ACs with adequate literacy. Decisional conflict was not related to literacy, numeracy, or knowledge acquisition. It was, however, inversely related to state anxiety so that the higher post-session state anxiety, the lower the ACs decisional conflict. CONCLUSION Numeracy and health literacy are associated with learning of orally communicated information during genetic counseling. It appears that numeracy can facilitate learning for literate subjects; it does not, however, make any difference in learning ability of clients with significant literacy deficits. PRACTICE IMPLICATIONS Numeracy plays an important role in clients ability to learn information communicated during medical sessions, especially among clients who are otherwise regarded as literate.