Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis.

Several professional organizations recommend conducting genetic testing as part of the autism diagnosis process, as it can provide additional information and benefits for autistic people and their families. However, there is disagreement among autism communities about whether genetic testing reflects autistic people's best interests. In practice, rates of clinical genetic testing for autism are much lower than diagnoses, creating a large gap between clinical guidelines and real clinical encounters. To investigate one potential source of this gap, we interviewed 14 healthcare providers about the autism diagnostic process and their actions related to autism genetic testing. We recruited a sample of primarily Ph.D. level-psychologists and analyzed our qualitative data using a five-step framework analysis method. Participants generally had positive or mixed views of genetic testing in autism. They described their current experiences of implementation of genetic testing, including that they did not often find it changed their clinical practice. Only some providers recommended it to everyone receiving an autism diagnosis. They also listed factors which discourage families from getting testing, including high costs, families feeling overwhelmed, other support needs taking priority, and ethical implications. Notably, providers highlighted a trend of referring patients to research genetic testing rather than clinical testing, which may provide a cheaper and easier alternative but is not likely to return results to participants. Finally, participants felt they needed more training in genetics and listed specific topics of uncertainty. Our research highlights a need to further educate clinicians in the uses and limitations of genetic testing for autism and suggests content areas of focus for genetics educators.

To boldly go: Unpacking the NHGRI's bold predictions for human genomics by 2030.

The 2020 strategic vision for human genomics, written by the National Human Genome Research Institute (NHGRI), was punctuated by a set of provocatively audacious "bold predictions for human genomics by 2030." Starting here, these will be unpacked and discussed in an upcoming series in the American Journal of Human Genetics.

Whither social media and clinical genetics?

Social media has become ubiquitous in daily life, and increasingly impacts medical and scientific fields, including related to clinical genetics. Recent events have led to questions about the use of certain social media platforms, as well as social media more generally. We discuss these considerations, including alternative and emerging platforms that can offer forums for the clinical genetics and related communities.

Understanding changes in genetic literacy over time and in genetic research participants.

As genomic and personalized medicine becomes mainstream, assessing and understanding the public's genetic literacy is paramount. Because genetic research drives innovation and involves much of the public, it is equally important to assess its impact on genetic literacy. We designed a survey to assess genetic literacy in three ways (familiarity, knowledge, and skills) and distributed it to two distinct samples: 2,050 members of the general population and 2,023 individuals currently enrolled in a large-scale genetic research study. We compared these data to a similar survey implemented in 2013. The results indicate that familiarity with basic genetic terms in 2021 (M = 5.36 [range 1-7], p < 0.001) and knowledge of genetic concepts in 2021 (M = 9.06 [56.6% correct], p = 0.002) are significantly higher compared to 2013 (familiarity: M = 5.08 [range 1-7]; knowledge: M = 8.72 [54.5% correct]). Those currently enrolled in a genetic study were also significantly more familiar with genetic terms (M = 5.79 [range 1-7], p < 0.001) and more knowledgeable of genetic concepts (M = 10.57 [66.1% correct], p < 0.001), and they scored higher in skills (M = 3.57 [59.5% correct], p < 0.001) than the general population (M = 5.36 [range 1-7]; M = 9.06 [56.6% correct]; M = 2.65 [44.2% correct]). The results suggest that genetic literacy is improving over time, with room for improvement. We conclude that educational interventions are needed to ensure familiarity with and comprehension of basic genetic concepts and suggest further exploration of the impact of genetic research participation on genetic literacy to determine mechanisms for potential interventions.

Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study.

Nonhuman primates and especially rhesus macaques (Macaca mulatta) have been indispensable animal models for studies of various aspects of neurobiology, developmental psychology, and other aspects of neuroscience. While remarkable progress has been made in our understanding of influences on atypical human social behavior, such as that observed in autism spectrum disorders (ASD), many significant questions remain. Improved understanding of the relationships among variation in specific genes and variation in expressed social behavior in a nonhuman primate would benefit efforts to investigate risk factors, developmental mechanisms, and potential therapies for behavioral disorders including ASD. To study genetic influences on key aspects of social behavior and interactions-individual competence and/or motivation for specific aspects of social behavior-we quantified individual variation in social interactions among juvenile rhesus macaques using both a standard macaque ethogram and a macaque-relevant modification of the human Social Responsiveness Scale. Our analyses demonstrate that various aspects of juvenile social behavior exhibit significant genetic heritability, with estimated quantitative genetic effects similar to that described for ASD in human children. We also performed exome sequencing and analyzed variants in 143 genes previously suggested to influence risk for human ASD. We find preliminary evidence for genetic association between specific variants and both individual behaviors and multi-behavioral factor scores. To our knowledge, this is the first demonstration that spontaneous social behaviors performed by free-ranging juvenile rhesus macaques display significant genetic heritability and then to use exome sequencing data to examine potential macaque genetic associations in genes associated with human ASD.

Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder.

As genomic and personalized medicine is integrated into healthcare, the need for patients to understand and make decisions about their own genetic makeup increases. Genetic literacy, or one's knowledge of genetic principles and their applications, measures an individual's ability to apply genetic information to their own treatment. Increased genetic literacy can improve comprehension of genetic tests and therefore increase participation in testing to detect and treat genetic disorders. It can also help providers understand and explain genetic information to their patients. However, current research indicates that the population's genetic literacy is generally low. Because many medical students, providers, and patients cannot adequately apply genetic information to their health, new and beneficial genetic technologies can be underused. More specifically, though genetic testing is recommended at the time of diagnosis for those affected by autism spectrum disorder (ASD), as few as 22% of families undergo genetic testing after diagnosis. While ASD, a neurodevelopmental condition characterized by impaired social communication and restricted interests, has both genetic and environmental risk, genetic testing can give clinicians useful information and help families avoid potentially painful and costly tests, even when many families do not receive a "positive" genetic result through microarrays or gene panels. Improving genetic literacy in populations affected by ASD can also improve attitudes toward genetic testing, thereby ensuring access to genetic health risk information. In this mini review, we discuss the current literature describing genetic literacy and genetic testing rates for ASD.

Cell Wall Polysaccharide Composition of Grafted 'Liberty' Watermelon With Reduced Incidence of Hollow Heart Defect.

Grafting watermelon scions to interspecific squash hybrids has been found to increase fruit firmness. Triploid (seedless) watermelon are prone to hollow heart (HH), an internal fruit disorder characterized by a crack in the placental tissue expanding to a cavity. Although watermelon with lower tissue firmness tend to have a higher HH incidence, associated differences in cell wall polysaccharide composition are unknown. Grafting "Liberty" watermelon to "Carnivor" (interspecific hybrid rootstock, C. moschata × C. maxima) reduced HH 39% and increased tissue firmness by 3 N. Fruit with and without severe HH from both grafted and non-grafted plants were analyzed to determine differences in cell wall polysaccharides associated with grafting and HH. Alcohol insoluble residues (AIR) were sequentially extracted from placental tissue to yield water soluble (WSF), carbonate soluble (CSF), alkali soluble (ASF), or unextractable (UNX) pectic fractions. The CSF was lower in fruit with HH (24.5%) compared to those without HH (27.1%). AIRs were also reduced, hydrolyzed, and acetylated for GC-MS analysis of monosaccharide composition, and a portion of each AIR was methylated prior to hydrolysis and acetylation to produce partially methylated alditol acetates for polysaccharide linkage assembly. No differences in degree of methylation or galacturonic and glucuronic acid concentrations were found. Glucose and galactose were in highest abundance at 75.9 and 82.4 µg⋅mg-1 AIR, respectively, followed by xylose and arabinose (29.3 and 22.0 µg⋅mg-1). Mannose was higher in fruit with HH (p < 0.05) and xylose was highest in fruit from grafted plants (p < 0.05). Mannose is primarily found in heteromannan and rhamnogalacturonan I side chains, while xylose is found in xylogalacturonan or heteroxylan. In watermelon, 34 carbohydrate linkages were identified with galactose, glucose, and arabinose linkages in highest abundance. This represents the most comprehensive polysaccharide linkage analysis to date for watermelon, including the identification of several new linkages. However, total pectin and cell wall composition data could not explain the increased tissue firmness observed in fruit from grafted plants. Nonetheless, grafting onto the interspecific hybrid rootstock decreased the incidence of HH and can be a useful method for growers using HH susceptible cultivars.

Strategic vision for improving human health at The Forefront of Genomics.

Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translational research. In addition, studies increasingly demonstrate how genomic information can be effectively used in clinical care. In the future, the anticipated advances in technology development, biological insights, and clinical applications (among others) will lead to more widespread integration of genomics into almost all areas of biomedical research, the adoption of genomics into mainstream medical and public-health practices, and an increasing relevance of genomics for everyday life. On behalf of the research community, the National Human Genome Research Institute recently completed a multi-year process of strategic engagement to identify future research priorities and opportunities in human genomics, with an emphasis on health applications. Here we describe the highest-priority elements envisioned for the cutting-edge of human genomics going forward-that is, at 'The Forefront of Genomics'.

Transmission of antimicrobial resistant non-O157 Escherichia coli at the interface of animal-fresh produce in sustainable farming environments.

The interaction of typical host adapted enteric bacterial pathogens with fresh produce grown in fields is complex. These interactions can be more pronounced in co-managed or sustainable farms where animal operations are, by design, close to fresh produce, and growers frequently move between the two production environments. The primary objectives of this study were to 1) determine the transmission of STEC or enteric pathogens from small and large animal herds or operations to fresh produce on sustainable farms in TN and NC, 2) identify the possible sources that impact transmission of AMR E. coli, specifically STEC on these systems, and 3) WGS to characterize recovered E. coli from these sources. Samples were collected from raw and composted manure, environment, and produce sources. The serotype, virulence, and genotypic resistance profile were determined using the assembled genome sequences sequenced by Illumina technology. Broth microdilution was used to determine the antimicrobial susceptibility of each isolate against a panel of fourteen antimicrobials. The prevalence of E. coli increased during the summer season for all sources tested. ParSNP trees generated demonstrated that the transmission of AMR E. coli is occurring between animal feeding operations and fresh produce. Ten isolates were identified as serotype O45, a serotype that is associated with the "Big Six" group that is frequently linked with foodborne outbreaks caused by non-O157 E. coli. However, these isolates did not possess the stx gene. The highest frequency of resistance was detected against streptomycin (n = 225), ampicillin (n = 190) and sulfisoxazole FIS (n = 140). A total of 35 (13.7%) isolates from two TN farms were positive for the blaCMY (n = 5) and blaTEM (n = 32) genes. The results of this study show the potential of AMR E. coli transmission between animal feeding operations and fresh produce, and more studies are recommended to study this interaction and prevent dissemination in sustainable farming systems.

Public Discussion Affects Question Asking at Academic Conferences.

Women are under-represented in science, technology, engineering, and mathematics (STEM). Despite the recent emphasis on diversity in STEM, our understanding of what drives differences between women and men scientists remains limited. This, in turn, limits our ability to intervene to level the playing field. To quantify the representation and participation of women and men at academic meetings in human genetics, we developed high-throughput and crowd-sourced approaches focused on question-asking behavior. Question asking is one voluntary and self-initiated scientific activity we can measure. Here we report that women ask fewer questions than expected regardless of their representation in talk audiences. We present evidence that external barriers affect the representation of women in STEM. However, differences in question-asking behavior suggest that internal factors also impact women's participation. We then examine the effects of specific interventions and show that wide public discussion of the relative under-participation of women in question-and-answer sessions alters question-asking behavior. We suggest that engaging the community in such projects promotes visibility of diversity issues at academic meetings and allows for efficient data collection that can be used to further explore and understand differences in conference participation.

Local Food Systems Food Safety Concerns.

Foodborne disease causes an estimated 48 million illnesses and 3,000 deaths annually (Scallan E, et al., Emerg Infect Dis 17:7-15, 2011), with U.S. economic costs estimated at $152 billion to $1.4 trillion annually (Roberts T, Am J Agric Econ 89:1183-1188, 2007; Scharff RL, http://www.pewtrusts.org/en/research-and-analysis/reports/0001/01/01/healthrelated-costs-from-foodborne-illness-in-the-united-states, 2010). An increasing number of these illnesses are associated with fresh fruits and vegetables. An analysis of outbreaks from 1990 to 2003 found that 12% of outbreaks and 20% of outbreak-related illnesses were associated with produce (Klein S, Smith DeWaal CS, Center for Science in the Public Interest, https://cspinet.org/sites/default/files/attachment/ddreport.pdf, June 2008; Lynch M, Tauxe R, Hedberg C, Epidemiol Infect 137:307-315, 2009). These food safety problems have resulted in various stakeholders recommending the shift to a more preventative and risk-based food safety system. A modern risk-based food safety system takes a farm-to-fork preventative approach to food safety and relies on the proactive collection and analysis of data to better understand potential hazards and risk factors, to design and evaluate interventions, and to prioritize prevention efforts. Such a system focuses limited resources at the points in the food system with the likelihood of having greatest benefit to public health. As shared kitchens, food hubs, and local food systems such as community supported agriculture are becoming more prevalent throughout the United States, so are foodborne illness outbreaks at these locations. At these locations, many with limited resources, food safety methods of prevention are rarely the main focus. This lack of focus on food safety knowledge is why a growing number of foodborne illness outbreaks are occurring at these locations.

Diversity in Clinical and Biomedical Research: A Promise Yet to Be Fulfilled.

Esteban Gonzalez Burchard and colleagues explore how making medical research more diverse would aid not only social justice but scientific quality and clinical effectiveness, too.

Toward innovative, cost-effective, and systemic solutions to improve outcomes and well-being of military families affected by autism spectrum disorder.

The burdens faced by military families who have a child with autism are unique. The usual challenges of securing diagnostic, treatment, and educational services are compounded by life circumstances that include the anxieties of war, frequent relocation and separation, and a demand structure that emphasizes mission readiness and service. Recently established military autism-specific health care benefits set the stage for community-viable and cost-effective solutions that can achieve better outcomes for children and greater well-being for families. Here we argue for implementation of evidence-based solutions focused on reducing age of diagnosis and improving access to early intervention, as well as establishment of a tiered menu of services, individualized to the child and family, that fit with the military ethos and system of health care. Absence of this new model of care could compromise the utility and sustainability of the autism-specific benefit.

Conference Scene: Accelerating public awareness in the age of personal genetics.

The Personal Genetics Education Project held its second annual GETed Conference on 26-27 April 2013 in Boston (MA, USA). The overarching goal of the conference was to bring together experts in education, research, health, entertainment and policy to develop strategies for accelerating public awareness on the topic of personal genetics. The 2013 meeting focused, in particular, on strategies for ensuring that all communities, regardless of socioeconomic status, will be informed about the benefits that can come from personal genetics as well as the controversial topics that can simultaneously propel and stymie discussions of genetics. Here, we will highlight the focal points of the meeting, with an emphasis on the approaches and ideas that emerged.