Abstract
In the last decade, genomic medicine education initiatives have surfaced across the spectrum of physician training in order to help address a gap in genomic medicine preparedness among ...physicians. The approaches are diverse and stem from the belief that 21st century physicians must be proficient in genomic medicine applications as they will be leaders in the precision medicine movement. We conducted a review of literature in genomic medicine education and training for medical students, residents, fellows, and practicing physicians with articles published between June 2015 and January 2018 to gain a picture of the current state of genomic medicine education with a focus on the United States. We found evidence of progress in the development of new and innovative educational programs and other resources aimed at increasing physician knowledge and readiness. Three overarching educational approach themes emerged, including immersive and experiential learning; interdisciplinary and interprofessional education; and electronic- and web-based approaches. This review is not exhaustive, nevertheless, it may inform future directions and improvements for genomic medicine education. Important next-steps include: (i) identifying and studying ways to best implement low-cost dissemination of genomic information; (ii) emphasizing genomic medicine education program evaluation and (iii) incorporating interprofessional and interdisciplinary initiatives. Genomic medicine education and training will become more and more relevant in the years to come as physicians increasingly interact with genomic and other precision medicine technologies.
The use of direct-to-consumer genomewide profiling to assess disease risk is controversial, and little is known about the effect of this technology on consumers. We examined the psychological, ...behavioral, and clinical effects of risk scanning with the Navigenics Health Compass, a commercially available test of uncertain clinical validity and utility.
We recruited subjects from health and technology companies who elected to purchase the Health Compass at a discounted rate. Subjects reported any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior at a mean (±SD) of 5.6±2.4 months after testing, as compared with baseline, along with any test-related distress and the use of health-screening tests.
From a cohort of 3639 enrolled subjects, 2037 completed follow-up. Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms (P=0.80), dietary fat intake (P=0.89), or exercise behavior (P=0.61). Secondary analyses revealed that test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions (β=0.117, P<0.001). However, 90.3% of subjects who completed follow-up had scores indicating no test-related distress. There was no significant increase in the rate of use of screening tests associated with genomewide profiling, most of which are not considered appropriate for screening asymptomatic persons in any case.
In a selected sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests. Potential effects of this type of genetic testing on the population at large are not known. (Funded by the National Institutes of Health and Scripps Health.).
Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents' perceived utility, adequacy of consent, and potential ...harms and benefits is lacking. Herein we report results of parental surveys of these domains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a randomized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs. More than 90% of parents reported feeling adequately informed to consent to diagnostic genomic sequencing. Despite only 23% (27) of 117 infants receiving genomic diagnoses, 97% (156) of 161 parents reported that testing was at least somewhat useful and 50.3% (88/161) reported no decisional regret (median 0, mean 10, range 0-100). Five of 117 families (4.3%) reported harm. Upon follow-up, one (1%) confirmed harm to child and parent related to negative results/no diagnosis, two (2%) reported stress or confusion, and two (2%) denied harm. In 81% (89) of 111 infants, families and clinicians agreed that genomic results were useful. Of the families for whom clinicians perceived harm from genomic testing, no parents reported harm. Positive tests/genomic diagnosis were more frequently perceived to be useful by parents, to benefit their infant, and to help manage potential symptoms (p < .05). In summary, the large majority of parents felt that first-tier, rapid, diagnostic genomic sequencing was beneficial for infants lacking etiologic diagnoses in ICUs. Most parents in this study perceived being adequately informed to consent, understood their child's results, and denied regret or harm from undergoing sequencing.
Socioeconomic disparities are associated with differences in cognitive development. The extent to which this translates to disparities in brain structure is unclear. We investigated relationships ...between socioeconomic factors and brain morphometry, independently of genetic ancestry, among a cohort of 1,099 typically developing individuals between 3 and 20 years of age. Income was logarithmically associated with brain surface area. Among children from lower income families, small differences in income were associated with relatively large differences in surface area, whereas, among children from higher income families, similar income increments were associated with smaller differences in surface area. These relationships were most prominent in regions supporting language, reading, executive functions and spatial skills; surface area mediated socioeconomic differences in certain neurocognitive abilities. These data imply that income relates most strongly to brain structure among the most disadvantaged children.
Cross-sectional magnetic resonance imaging (MRI) studies have long hypothesized that the brain in children with autism undergoes an abnormal growth trajectory that includes a period of early ...overgrowth; however, this has never been confirmed by a longitudinal study. We performed the first longitudinal study of brain growth in toddlers at the time symptoms of autism are becoming clinically apparent using structural MRI scans at multiple time points beginning at 1.5 years up to 5 years of age. We collected 193 scans on 41 toddlers who received a confirmed diagnosis of autistic disorder at approximately 48 months of age and 44 typically developing controls. By 2.5 years of age, both cerebral gray and white matter were significantly enlarged in toddlers with autistic disorder, with the most severe enlargement occurring in frontal, temporal, and cingulate cortices. In the longitudinal analyses, which we accounted for age and gender effect, we found that all regions (cerebral gray, cerebral white, frontal gray, temporal gray, cingulate gray, and parietal gray) except occipital gray developed at an abnormal growth rate in toddlers with autistic disorder that was mainly characterized by a quadratic age effect. Females with autistic disorder displayed a more pronounced abnormal growth profile in more brain regions than males with the disorder. Given that overgrowth clearly begins before 2 years of age, future longitudinal studies would benefit from inclusion of even younger populations as well as further characterization of genetic and other biomarkers to determine the underlying neuropathological processes causing the onset of autistic symptoms.
Structural MRI allows unparalleled in vivo study of the anatomy of the developing human brain. For more than two decades 1, MRI research has revealed many new aspects of this multifaceted maturation ...process, significantly augmenting scientific knowledge gathered from postmortem studies. Postnatal brain development is notably protracted and involves considerable changes in cerebral cortical 2–4, subcortical 5, and cerebellar 6, 7 structures, as well as significant architectural changes in white matter fiber tracts 8–11 (see 12). Although much work has described isolated features of neuroanatomical development, it remains a critical challenge to characterize the multidimensional nature of brain anatomy, capturing different phases of development among individuals. Capitalizing on key advances in multisite, multimodal MRI, and using cross-validated nonlinear modeling, we demonstrate that developmental brain phase can be assessed with much greater precision than has been possible using other biological measures, accounting for more than 92% of the variance in age. Further, our composite metric of morphology, diffusivity, and signal intensity shows that the average difference in phase among children of the same age is only about 1 year, revealing for the first time a latent phenotype in the human brain for which maturation timing is tightly controlled.
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► Multimodal neuroanatomical measures predict child age with greater than 92% accuracy ► Morphology, diffusivity, and signal intensity capture brain maturity equally well ► Reveals a phenotype that varies by only about a year for most same-aged individuals ► Suggests timing of brain maturation is more tightly controlled than previously known
Advances in health technology such as genome sequencing and wearable sensors now allow for the collection of highly granular personal health data from individuals. It is unclear how people think ...about privacy in the context of these emerging health technologies. An open question is whether early adopters of these advances conceptualize privacy in different ways than non-early adopters.
This study sought to understand privacy attitudes of early adopters of emerging health technologies.
Transcripts from in-depth, semi-structured interviews with early adopters of genome sequencing and health devices and apps were analyzed with a focus on participant attitudes and perceptions of privacy. Themes were extracted using inductive content analysis.
Although interviewees were willing to share personal data to support scientific advancements, they still expressed concerns, as well as uncertainty about who has access to their data, and for what purpose. In short, they were not dismissive of privacy risks. Key privacy-related findings are organized into four themes as follows: first, personal data privacy; second, control over personal information; third, concerns about discrimination; and fourth, contributing personal data to science.
Early adopters of emerging health technologies appear to have more complex and nuanced conceptions of privacy than might be expected based on their adoption of personal health technologies and participation in open science. Early adopters also voiced uncertainty about the privacy implications of their decisions to use new technologies and share their data for research. Though not representative of the general public, studies of early adopters can provide important insights into evolving attitudes toward privacy in the context of emerging health technologies and personal health data research.
Despite broad consensus on the importance of community and stakeholder engagement (CSE) for guiding the development, regulation, field testing, and deployment of emerging vector control technologies ...(such as genetically engineered insects), the types of activities pursued have varied widely, as have the outcomes. We looked to previous CSE efforts for clarity about appropriate methods and goals. Our analysis yielded a typology of CSE, and related vocabulary, that describes distinctions that funders, organizers, and scholars should make when proposing or evaluating CSE.
We compiled available formal documentation of CSE projects, starting with projects mentioned in interviews with 17 key informants. Major features of these examples, including the initiators, target groups, timing, goals, and methods were identified using qualitative coding. Based on these examples, subcategories were developed for a subset of features and applied to the identified cases of CSE in the documents. Co-occurrence of subcategorized features was examined for patterns.
We identified 14 documented examples CSE projects, which were comprised of 28 distinct CSE activities. We found no clear patterns with respect to timing. However, we found that grouping examples according to whether initiators or targets could enact the immediate desired outcome could help to clarify relationships between goals, methods, and targets.
Based on this analysis, we propose a typology that distinguishes three categories of CSE: engagement to inquire -where initiators are empowered to act on information collected through engagement with target groups; engagement to influence -where initiators engage to affect the actions of already-empowered target groups; and engagement to involve -where initiators engage to delegate authority to target groups. The proposed typology can serve as a guide for establishing the goals, identifying appropriate methods, and evaluating and reporting CSE projects by directing attention to important questions to be asked well before determining who to engage and how.
The coronavirus disease 2019 (COVID-19) pandemic led to the onset and exacerbation of mental health problems, such as stress, anxiety, and depression; yet stay-at-home-orders affected individuals' ...ability to make use of social support as a coping skill in managing distress. We aimed to evaluate how social support (emotional and instrumental) and biological sex were associated with stress, anxiety, and depression early in the COVID-19 pandemic.
Participants (n = 7256) had an average age of 50.13 years (SD = 16.75) and 51.6% were male. Using a cross-sequential design, seven cohorts of individuals completed baseline (T1) and one-month follow-up (T2) questionnaires online from March to July of 2020. We used a series of hierarchical regressions to identify types of social support (Brief-COPE, T1) associated with stress (Perceived Stress Scale-10, T1 and T2), anxiety and depression (Patient Health Questionnaire-4, T2).
Greater emotional support was associated with less perceived stress, anxiety and depression (all ps < 0.001), whereas greater instrumental support predicted increased distress (all ps < 0.036) on all four outcomes. Moderation analyses revealed that greater emotional social support was associated with lower perceived stress at T1 for both women and men, with a stronger association for women relative to men. For women, greater emotional social support predicted lower anxiety.
Self-selection may have introduced bias and participant self-report on brief measures may not have fully captured coping and distress.
Interventions enhancing emotional social support strategies, which appear especially important for women, might help manage enduring stressors such as the COVID-19 pandemic.
•Emotional social support was negatively associated with psychological distress.•Instrumental social support was positively associated with psychological distress.•For women, emotional social support predicted lower anxiety, but not for men.
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