Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.

BACKGROUND:Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). METHODS:Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. RESULTS:The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist's 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient's genetic results were higher for the specialists than the provider group. CONCLUSION:Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable

Consumer use and response to online third-party raw DNA interpretation services

This study was funded in part by a pilot grant from the Boston University School of Public Health. (Boston University School of Public Health)Published versio

Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals

Background: Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). Methods: Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. Results: The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist’s 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient’s genetic results were higher for the specialists than the provider group. Conclusion: Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable

A Revised Model for Informed Consent in Predictive Genetic Testing

This dissertation develops a revised model of informed consent for PGT. The need for this model arises from distinguishing characteristics of PGT, which make it distinctive from other forms of health-related testing. These characteristics are: the difficulty in understanding genetic risks and probabilities; the problem of treatment options for diagnosed genetic traits; and the concern with family-related genetic information. The first chapter explains PGT to identify these characteristics that shape the revised model of consent. The second chapter explores the history of consent to identify the widely recognized components of consent (understanding, disclosure, and voluntariness) that represent the current model. The third chapter explains the revised model by aligning the three distinguishing characteristics of PGT with the three widely recognized components in the current model. At the end, the revised model is applied to direct-to-consumer and pleiotropic genetic testing. To explain the significance of the revised model of consent, the following main categories are discussed. First, PGT involves a risk analysis of the related probabilities that can be complicated for patients to comprehend. This point develops the importance of understanding in the current model. Risk assessment involves calculating probabilities to determine the likelihood of developing a disease. To accomplish this, the relation between autonomy and comprehension is crucial. The current model uses an approach to autonomy that is standardized and generic, focusing on consent by providing a signature to accept or reject a test. The revised model enhances patient involvement by adopting a more extensive approach, described as a process rather than as an event. Typically the current model does not offer a large amount of time to comprehending risk assessments. The additional time and complexity involved in comprehending the connection between risk and probability has significant implications for patient education by the doctor, thereby developing the meaning of the doctor-patient relationship. For example, the emergence of the so-called Nocebo Effect needs to be considered here. Second, there are complex treatment options, including no treatment for some diseases, that require genetic counseling to select an appropriate option. This point develops the importance of disclosure in the current model. Typically the current model emphasizes appropriate disclosure of information. The revised model takes this further and recognizes that this disclosure needs to be accompanied with genetic counseling both before and after testing to enhance decision making about a suitable option. Appropriate genetic counseling must include patient assessment and feedback mechanisms. Third, PGT involves family-related information with accompanying implications that can compromise voluntariness. This third point develops the importance of avoiding coercion of both the patient and the patient\u27s family when information is presented. The third distinctive characteristic of PGT is the relevance of genetic information for the patient\u27s family. In the current model, family-related coercion is often difficult to identify. The revised model ensures voluntary consent by establishing procedures to avoid two forms of coercion: pressure by the family for the patient to be tested (eg, if there is a family genetic trait already known, there can be pressure upon a child to be tested to ascertain if s/he is a carrier etc); and pressure upon the family regarding the testing outcome (eg, if a trait emerges that affects other siblings, a process needs to be undertaken to ascertain whether the sibling wants to know). The revised model of consent requires an additional component to the traditionally recognized three components (comprehension, disclosure, voluntariness): the culture of patient safety. That is, the revised model of consent enhances the traditional components of consent within a medical culture that emphasizes patient safety. This safety culture requires nationally established systems of accountability for PGT that implement the revised components of consent in a transparent manner to foster trust in the emerging system of genetic-related services

Direct-to-Consumer Genetic Testing: A Survey of Consuming Perceptions

INTRODUCTION AND LITERATURE New technology presents difficulties for policy makers in that it is impossible to determine every subsequent impact of a novel technology when it is introduced to society. Direct-to-consumer (DTC) genetic testing exemplifies this problem while presenting the additional complication of having an impact on both individual and public health. Little research has been done on what consumer perceptions of information presented to them are. Some studies have demonstrated a need for further work and expert consensus has identified issues with advertisements but no research has been done on consumer perceptions. METHODOLOGY A cohort of faculty and staff at the Rochester Institute of Technology (RIT) were presented with a screenshot of a website from a leader in the DTC genetic testing industry and asked about their perceptions of the genetic tests presented on that page. The survey was distributed via email and presented using RIT Clipboard software. RESULTS AND DISCUSSION 103 responses to the survey were received and analyzed. There was a wide range in the answers provided to questions but several themes emerged upon analysis. This population was significantly more educated than the general U.S. population. Many respondents indicated some form of knowledge in science and or technology, either through formal education or work experience. The responses indicated a significant lack of understanding of the information presented by the company. Some respondents demonstrated a misunderstanding of the basic concepts underlying the information presented and a failure to correctly interpret the advertisement. These results indicate a potential need for policies regarding the structure, content and interpretation of these advertisements. Further research should focus on establishing similar results for other genetic tests and DTC genetic testing companies as well as developing methodologies to assess retention of information and economic and political acceptance of potential regulation

Racial and Ethnic Differences in Directâ toâ Consumer Genetic Tests Awareness in HINTS 2007: Sociodemographic and Numeracy Correlates

To examine the association of 1) race/ethnicity and 2) numeracy with awareness of DTC genetic tests. Secondary analysis of 6,754 Hispanic, black, and white adult respondents to the National Cancer Institute’s 2007 Health Information National Trends Survey (HINTS). Logistic regression was used to examine sociodemographic predictors of DTC genetic tests awareness including race/ethnicity, income, education, and gender. Next, two numeracy variables were added to the model. After controlling for sociodemographic variables, black respondents were significantly less likely to have heard of DTC genetic tests compared to white respondents (ORâ =â 0.79; CI: 0.65â 0.97). When numeracy variables were added to the model, the effect of black race was no longer significant (ORâ =â 0.84; CI: 0.69â 1.04). Hispanic respondents did not significantly differ from white respondents in awareness of DTC genetic tests. Other significant correlates of DTC genetic tests awareness in the full model included education, income, age, and numeracy variables including degree to which people use medical statistics and numbers to make health decisions, and preference for words or numbers when discussing â the chance of something happening.â Although black respondents were generally less aware of DTC genetic tests than white respondents, this relationship appears to be partially mediated by numeracy.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146912/1/jgc40440.pd

Primary Care Physicians’ Experience and Confidence with Genetic Testing and Perceived Barriers to Genomic Medicine

Purpose: Genetic testing is progressing towards use of patients’ genomes for personalized medicine. Primary care physicians (PCPs) may use genetic tests to screen and assess risk. However, PCPs’ current preparedness for the expanding integration of genetics into practice is uncharacterized. We examined primary care physicians’ perceptions of and experience with genetic testing. Methods: An anonymous survey was mailed to PCPs across three regional health networks querying opinions of, experience with, confidence in, and perceived barriers to genetic testing. Results: The survey response rate was 37.8%. Respondents believed learning about new genetic advances was important to clinical practice (67.0%). A minority (19.0%) had ordered genetic testing in six months, with cancer risk testing the most frequently ordered. Respondents were not confident in the skills required for using genetic testing in practice. Few respondents felt that they had time to counsel about genetic risk (9.5%) or that most patients could comprehend the concept of risk (27.0%). Conclusions: Primary care physicians had a high opinion of using genetic testing in medicine, but reported little experience or confidence incorporating genetic testing into practice. A majority perceived time constraints and patient comprehension as barriers. These data demonstrate a need for genetics educational resources for physicians and patients