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Key Points Clinical molecular genetic testing is transforming personalized medicine and is appropriate for a range of applications, such as rare disease diagnostics and predictive testing for common disorders. Whole-exome and whole-genome sequencing may become a first-line clinical test for some naive diagnostic cases, but classic genetic tests will continue to be used for the high analytical sensitivity of specific defects and for the confirmation of genome findings. There remains no single test to detect the wide array of genetic defects that may be inherited or arise de novo ; clinical diagnostics requires multiple approaches to determine a causal genetic defect. Although genome sequencing may transform diagnostic approaches in large academic medical centres, access to expensive and sophisticated tests are not universal. Genetic testing must be available globally through validated simple technologies for molecular diagnostics (such as direct PCR, linkage analysis or multiplex ligation-dependent probe amplification). The greatest challenge to clinical genomics is the reliable interpretation of the multiple and novel variants found through genome sequencing. Pathogenicity of genetic variants can be examined with bioinformatics prediction approaches, protein stability studies, transcriptional activity studies and allele- and/or gene-specific animal models. As broader genomic information becomes available to providers and patients, partnerships will develop to convey patient-centred data, including incidental findings. The regulatory environment must adapt to the coming volume of genomic information to maximize benefit to patients and health-care systems and to match the expectations of the patient population with regard to these technologies. The authors review current technologies for clinical genetic testing. Moves are being made towards whole-genome and whole-exome sequencing in the clinic, although other technologies will continue to be of value. Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.

[...]Brissette et al describe a unique collaboration between the US Centers for Disease Control and Prevention (CDC) and several state and local health departments to highlight how these health agencies are incorporating GIS&T into their chronic disease work and the benefits and challenges of this work (11). Authors from the Washington State Department of Health report on their evaluation of a program providing “prescriptions” in the form of $10 vouchers for eligible low-income patients to purchase fresh fruits and vegetables at participating grocery stores (12). [...]2 articles describe interventions from multiple health agencies. In their Program Evaluation Brief, Felipe et al describe and provide lessons learned from a learning collaborative that engaged 31 state and territorial health agencies to improve hypertension diagnosis and management, incorporating a systems-change approach and rapid quality improvement processes (19).

The secure and ethical use of genetic testing can assist family reunifications in Ukraine and other settings for humanitarian disasters. The secure and ethical use of genetic testing can assist family reunifications in Ukraine and other settings for humanitarian disasters.

The effects of the health system response to the COVID-19 pandemic on chronic disease management: a narrative review. Jansen T, Lee CM, Xu S, Silverstein N, Dugan B. The town-level prevalence of chronic lung conditions and death from COVID-19 among older adults in Connecticut and Rhode Island. Email: jmennis@temple.edu. 1Temple University, Philadelphia, Pennsylvania. 2Office of the Associate Director for Policy and Strategy, Centers for Disease Control and Prevention, Atlanta, Georgia. 3Muskie School of Public Service, University of Southern Maine, Portland, Maine. 4Maine Center for Disease Control and Prevention, Augusta, Maine.

A technique known as investigative genetic genealogy (IGG) was first introduced to criminal investigations in 2018, and it has since been used by U.S. law enforcement to help identify hundreds of criminal perpetrators and unidentified human remains. As expertise in IGG grows, policymakers have shown interest in regulating it. To help inform these efforts and to promote coherence in IGG governance as it expands, we recruited experts representing a spectrum of IGG-relevant professions and perspectives to identify and prioritize IGG practices for policy attention and to develop policy options for addressing them. In two rounds of a modified policy Delphi, 31 participants prioritized nine IGG practices for policy attention. These top priority practices relate to: consent and notification; case eligibility and criteria; data management, privacy, and security; and governance and accountability. Participants expressed a range of opinions, some strongly held, and did not reach complete consensus with respect to any of the practices. However, convergence was strongest with respect to law enforcement participation in direct-to-consumer genetic genealogy databases against terms of service, which a large majority opposed and almost half evaluated as top priority for policy attention. Participants also voiced strong and consistent concern about management of data and samples collected and generated during IGG and the governance of private laboratories involved in IGG. Our study demonstrates the feasibility and value of engaging with diverse experts over an extended period on a pressing matter of public policy and provides a needed empirical foundation for IGG policymaking.

Since the 1950s, heart disease deaths have declined in the United States, but recent reports indicate a plateau in this decline. Heart disease death rates increased in Maine from 2011-2015. We examined reasons for the trend change in Maine's heart disease death rates, including the contributing types of heart disease. We obtained Maine's annual heart disease death data for 1999-2017 from CDC's Wide-ranging Online Data for Epidemiologic Research (CDC WONDER). We used joinpoint regression to determine changes in trend and annual percentage change (APC) in death rates for heart disease overall and by demographic groups, types of heart disease, and geographic area. Joinpoint modeling showed that Maine's age-adjusted heart disease death rates decreased during 1999-2010 (-4.2% APC), then plateaued during 2010-2017 (-0.1% APC). Death rates flattened for both sexes and age groups ≥45 years. Although death rates for acute myocardial infarction (AMI) decreased through 2017, hypertensive heart disease (HHD) and heart failure death rates increased. Death rates attributable to diabetes-related heart disease and non-AMI ischemic heart disease (IHD) plateaued. Declines in Maine's heart disease death rates have plateaued, similar to national trends. Flattening rates appear to be driven by adverse trends in HHD, heart failure, diabetes-related heart disease, and non-AMI IHD. Increased efforts to address cardiovascular disease risk factors, chronic heart disease, and access to care are necessary to continue the decrease in heart disease deaths in Maine.

The built environment may be responsible for making nonmotorized transportation inconvenient, resulting in declines in physical activity. However, few studies have assessed both the perceived and objectively measured environment in association with physical activity outcomes. The purpose of this study was to describe the associations between perceptions and objective measures of the built environment and their associations with leisure, walking, and transportation activity. Perception of the environment was assessed from responses to 1,270 telephone surveys conducted in Forsyth County, NC and Jackson, MS from January to July 2003. Participants were asked if high-speed cars, heavy traffic, and lack of crosswalks or sidewalks were problems in their neighborhood or barriers to physical activity. They were also asked if there are places to walk to instead of driving in their neighborhood. Speed, volume, and street connectivity were assessed using Geographic Information Systems (GIS) for both study areas. Locations of crashes were measured using GIS for the NC study area as well. Objective and perceived measures of the built environment were in poor agreement as calculated by kappa coefficients. Few associations were found between any of the physical activity outcomes and perception of speed, volume, or presence of sidewalks as problems in the neighborhood or as barriers to physical activity in regression analyses. Associations between perceptions of having places to walk to and presence of crosswalks differed between study sites. Several associations were found between objective measures of traffic volume, traffic speed, and crashes with leisure, walking, and transportation activity in Forsyth County, NC; however, in Jackson, MS, only traffic volume was associated with any of the physical activity outcomes. When both objective and perceived measures of the built environment were combined into the same model, we observed independent associations with physical activity; thus, we feel that evaluating both objective and perceived measures of the built environment may be necessary when examining the relationship between the built environment and physical activity.

Large indoor gatherings pose a high risk for transmission of SARS-CoV-2, the virus that causes coronavirus disease 2019 (COVID-19), and have the potential to be super-spreading events (1,2). Such events are associated with explosive growth, followed by sustained transmission (3). During August 7-September 14, 2020, the Maine Center for Disease Control and Prevention (MeCDC) investigated a COVID-19 outbreak linked to a wedding reception attended by 55 persons in a rural Maine town. In addition to the community outbreak, secondary and tertiary transmission led to outbreaks at a long-term care facility 100 miles away and at a correctional facility approximately 200 miles away. Overall, 177 COVID-19 cases were epidemiologically linked to the event, including seven hospitalizations and seven deaths (four in hospitalized persons). Investigation revealed noncompliance with CDC's recommended mitigation measures. To reduce transmission, persons should avoid large gatherings, practice physical distancing, wear masks, stay home when ill, and self-quarantine after exposure to a person with confirmed SARS-CoV-2 infection. Persons can work with local health officials to increase COVID-19 awareness and determine the best policies for organizing social events to prevent outbreaks in their communities.

Despite the urgent need to improve social connection, practical evidence-based recommendations on how to do so during daily interactions are lacking. One key behavior theorized to facilitate social connection is high-quality listening, yet behavioral evidence is limited. Across two pre-registered studies, we tested whether observed high-quality listening behaviors during conversations between strangers are associated with behavioral and subjective markers of social connection, and whether listening behaviors account for the effectiveness of simple interventions aimed at increasing social connection. Pairs of strangers conversed in either a 10-minute semi-structured conversation (“deep talk”; Study 1) or a brief, “small talk” opportunity (Study 2) following a randomized social connectedness intervention (total N  = 646). In Study 1, we found that the frequency of verbal listening behaviors (i.e., verbal validation, follow-up questions) predicted faster conversational response times and other markers of social connection (i.e., 3 rd party observers and self- and partner-reports). Additionally, people randomized to a social connectedness intervention (vs. active control) asked their partner more follow-up questions (i.e., displayed high-quality listening behavior), which in turn, predicted increased social connection. We replicated and extended Study 1 to small talk conversations and found global listening behaviors also predicted behavioral and partner-reported social connection. Verbal listening indicators, however, were less consistently linked to markers of social connection and no evidence emerged that the intervention increased listening behaviors during small talk. Findings suggest observable high-quality listening behaviors may be a promising route to fostering social connection and may enhance the effectiveness of interventions aimed at improving social connection. High-quality listening behaviors (e.g., follow-up questions) are linked to behavioral and self-reported markers of social connection in conversations between strangers and may account for the effectiveness of a social connectedness intervention.

Vaping rates are rising among adolescents across the country, and smoking rates remain high. Understanding risk and protective factors associated with vaping and smoking can guide public health interventions. This study examined risk and protective factors associated with vaping and smoking among high school students in Maine. We used 2019 Maine Integrated Youth Health Survey (MIYHS) data to examine risk and protective factors for vaping and smoking among Maine high school students. Our analytic sample consisted of 17,651 Maine high school students. In addition to bivariate analyses, we used unadjusted and adjusted logistic regression models to assess risk and protective factors. Factors with the greatest effect on students' likelihood to vape, smoke, or do both were parental attitude toward adolescent smoking and depressive symptoms. Students who reported their parents feel it is a little wrong or not wrong at all if they smoked had 4.9 times higher adjusted odds of smoking and 4.6 times higher adjusted odds of vaping and smoking compared with students who said their parents feel it would be wrong or very wrong if they smoked. Students who reported depressive symptoms had 2.1 times higher adjusted odds of vaping, 2.7 times higher adjusted odds of smoking, and 3.0 times higher adjusted odds of vaping and smoking compared with students who did not report depressive symptoms. Understanding risk and protective factors for smoking and vaping among high school students can help tailor adolescent-focused vaping and smoking public health interventions to increase effectiveness.