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

Applying implementation science to improve care for familial hypercholesterolemia

PURPOSE OF REVIEW: Improving care of individuals with familial hypercholesteremia (FH) is reliant on the synthesis of evidence-based guidelines and their subsequent implementation into clinical care. This review describes implementation strategies, defined as methods to improve translation of evidence into FH care, that have been mapped to strategies from the Expert Recommendations for Implementing Change (ERIC) compilation. RECENT FINDINGS: A search using the term \u27familial hypercholesterolemia\u27 returned 1350 articles from November 2018 to July 2021. Among these, there were 153 articles related to improving FH care; 1156 were excluded and the remaining 37 were mapped to the ERIC compilation of strategies: assess for readiness and identify barriers and facilitators [9], develop and organize quality monitoring systems [14], create new clinical teams [2], facilitate relay of clinical data to providers [4], and involve patients and family members [8]. There were only 8 of 37 studies that utilized an implementation science theory, model, or framework and two that explicitly addressed health disparities or equity. SUMMARY: The mapping of the studies to implementation strategies from the ERIC compilation provides a framework for organizing current strategies to improve FH care. This study identifies potential areas for the development of implementation strategies to target unaddressed aspects of FH care

Disordered eating and internalizing symptoms in preadolescence

Objectives Research has demonstrated links between disordered eating, anxiety, and depression in adults and adolescents but there is limited research investigating these associations in preadolescence. The current study examined the associations between disordered eating, anxiety, and depression during preadolescence, as well as the role of gender in moderating these associations. Method Two hundred and thirteen children (M = 10.3 years; 51.2% male) reported levels of disordered eating (ChEAT) and anxiety and depression symptoms (RCADS‐25). Results Regression analyses support an association between disordered eating and both anxiety and depression in preadolescence. Overall, there were no significant differences between boys and girls when the main effect was examined, which differs from research in adolescents. Discussion These findings highlight the importance of early detection for disordered eating behaviors and attitudes, as well as anxiety and depression in both boys and girls during preadolescence. Longitudinal research examining these associations is vital to help understand the trajectories of these problems, but also the gender differences in disordered eating that emerge during adolescence. Transdiagnostic interventions targeting several co‐occurring problems, such as disordered eating, anxiety, and depression might be effective for preventing the development of eating disorders in the long term

Engineering, Life Sciences, and Health/Medicine Synergy in Aerospace Human Systems Integration: The Rosetta Stone Project

In the realm of aerospace engineering and the physical sciences, we have developed laws of physics based on empirical and research evidence that reliably guide design, research, and development efforts. For instance, an engineer designs a system based on data and experience that can be consistently and repeatedly verified. This reproducibility depends on the consistency and dependability of the materials on which the engineer works and is subject to physics, geometry and convention. In life sciences and medicine, these apply as well, but individuality introduces a host of variables into the mix, resulting in characteristics and outcomes that can be quite broad within a population of individuals. This individuality ranges from differences at the genetic and cellular level to differences in an individuals personality and abilities due to sex and gender, environment, education, etc

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 continuous information theoretic approach to the analysis of cutaneous receptor neurons

Information theoretic and statistical techniques for determining the number of discernible levels in cutaneous receptor neurons are reviewed. Reasons for the large variance in these results are discussed. A new continuous information theoretic analysis technique is presented that overcomes many of the problems in the other methods of analysis discussed. Comparison of this new method of analysis with a statistical technique developed by Schreiner et al. (1978) clearly shows some of the misconceptions that are associated with statistical analysis techniques, and why these problems cannot arise in the new information theoretic technique discussed here.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47432/1/422_2004_Article_BF00340064.pd

Beyond the hype of big data and artificial intelligence: building foundations for knowledge and wisdom

Big data, coupled with the use of advanced analytical approaches, such as artificial intelligence (AI), have the potential to improve medical outcomes and population health. Data that are routinely generated from, for example, electronic medical records and smart devices have become progressively easier and cheaper to collect, process, and analyze. In recent decades, this has prompted a substantial increase in biomedical research efforts outside traditional clinical trial settings. Despite the apparent enthusiasm of researchers, funders, and the media, evidence is scarce for successful implementation of products, algorithms, and services arising that make a real difference to clinical care. This article collection provides concrete examples of how “big data” can be used to advance healthcare and discusses some of the limitations and challenges encountered with this type of research. It primarily focuses on real-world data, such as electronic medical records and genomic medicine, considers new developments in AI and digital health, and discusses ethical considerations and issues related to data sharing. Overall, we remain positive that big data studies and associated new technologies will continue to guide novel, exciting research that will ultimately improve healthcare and medicine—but we are also realistic that concerns remain about privacy, equity, security, and benefit to all.Published versio

Exome-wide analysis of the discovehr cohort reveals novel candidate pharmacogenomic variants for clinical pharmacogenomics

Recent advances in next-generation sequencing technology have led to the production of an unprecedented volume of genomic data, thus further advancing our understanding of the role of genetic variation in clinical pharmacogenomics. In the present study, we used whole exome sequencing data from 50,726 participants, as derived from the DiscovEHR cohort, to identify pharmacogenomic variants of potential clinical relevance, according to their occurrence within the PharmGKB database. We further assessed the distribution of the identified rare and common pharmacogenomics variants amongst different GnomAD subpopulations. Overall, our findings show that the use of publicly available sequence data, such as the DiscovEHR dataset and GnomAD, provides an opportunity for a deeper understanding of genetic variation in pharmacogenes with direct implications in clinical pharmacogenomics

Repeatability of quantitative pericoronary adipose tissue attenuation and coronary plaque burden from coronary CT angiography

BACKGROUND: High pericoronary adipose tissue (PCAT) attenuation and non-calcified plaque burden (NCP) measured from coronary CT angiography (CTA) have been implicated in future cardiac events. We aimed to evaluate the interobserver and intraobserver repeatability of PCAT attenuation and NCP burden measurement from CTA, in a sub-study of the prospective SCOT-HEART trial. METHODS: Fifty consecutive CTAs from participants of the CT arm of the prospective SCOT-HEART trial were included. Two experienced observers independently measured PCAT attenuation and plaque characteristics throughout the whole coronary tree from CTA using semi-automatic quantitative software. RESULTS: We analyzed proximal segments in 157 vessels. Intraobserver mean differences in PCAT attenuation and NCP plaque burden were −0.05HU and 0.92% with limits of agreement (LOA) of ±1.54 and ±5.97%. Intraobserver intraclass correlation coefficients (ICC) for PCAT attenuation and NCP burden were excellent (0.999 and 0.978). Interobserver mean differences in PCAT attenuation and NCP plaque burden were 0.13HU [LOA ±1.67HU] and −0.23% (LOA ±9.61%). Interobserver ICC values for PCAT attenuation and NCP burden were excellent (0.998 and 0.944). CONCLUSION: PCAT attenuation and NCP burden on CTA has high intraobserver and interobserver repeatability, suggesting they represent a repeatable and robust method of quantifying cardiovascular risk