Genetic Knowledge Research Articles

Are Graduate Medical Trainees Prepared for the Personalized Genomic Medicine Revolution? Trainee Perspectives at One Institution.

Although the use of genomics to inform clinical care is increasing, clinicians feel underprepared to integrate personalized medicine (PM) into care decisions. The educational needs of physician residents and fellows, also known as graduate medical trainees (GMTs), have been overlooked. We administered an anonymous, web-based survey to all GMTs participating in training programs affiliated with our institution to evaluate their knowledge, skills, and attitudes toward PM. Of the 1190 GMTs contacted, 319 (26.8%) returned surveys. Most (88.4%) respondents reported receiving PM education in the past. Although the respondents agreed that knowledge of disease genetics (80.9%) or pharmacogenetics (87.1%) would likely lead to improved clinical outcomes, only 33.2% of the respondents felt sufficiently informed about PM. The respondents who had received PM education in residency and/or fellowship had significantly higher self-reported knowledge, ability, awareness, and adoption of PM than those who had not received this education (p < 0.0001, p < 0.0001, p < 0.0001, and p < 0.01, respectively). Targeted training is needed to improve GMTs' confidence in interpreting and explaining genetic test results. The ideal timing for this education appears to be in residency and/or fellowship rather than in medical school.

A survey of genetic and palliative care health professionals’ views of integrating genetics into palliative care

Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health professionals have described difficulties initiating palliative-genetic discussions. Between March and July 2022, we received n = 73 surveys (6% response rate) from genetic and palliative care health professionals in Australia and New Zealand that assessed and compared barriers and facilitators. The main perceived barrier to both groups was palliative care health professionals’ lack of genetic knowledge (44%). Most palliative care health professionals were ‘not at all confident’ performing several activities, including discussing DNA banking (52%) and knowing their legal responsibilities when sharing genetic information (58%). The most frequently selected facilitator for genetic health professionals was fostering close relationships with palliative care health professionals (52%), while palliative care health professionals indicated a genetic referral template (51%) would be of assistance. Almost all participants agreed genetic discussions do not undermine the central ethos of palliative care (87%). Fewer palliative care health professionals considered themselves well situated to have genetic discussions with a palliative patient’s family compared to genetic health professionals (p = 0.014). Our results suggest that genetic and palliative care health professionals support integrating genetics into palliative care, although refinement of the palliative care health professionals’ role in this process is required. We have identified intervention targets to overcome barriers related to knowledge and confidence, which ought to be integrated into future interventions designed to support health professionals deliver the benefits of genetic information to people with palliative care needs and their families.

Assessing the general public's view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages.

The general public continues to show increased interest and uptake of Direct-to-Consumer (DTC) genetic testing. We conducted an online survey (N = 405) to assess genetics knowledge, interest, and outcome expectancy of DTC genetic testing before and after exposure to a sample DTC disclaimer message. Descriptive statistics were used to analyze the relationship between previous genetic knowledge, attitudes and self-reported systematic processing of a sample DTC disclaimer message, outcome expectancies, and interest to pursue DTC genetic testing. Increased genetic knowledge and more positive attitudes towards DTC genetic testing were associated with increased self-reported systematic processing of the DTC disclaimer message. Further, self-reported systematic processing of the DTC disclaimer message was associated with greater interest in pursuing DTC genetic testing but did not predict outcome expectancies. As DTC genetic testing continues to gain in popularity and usage, additional research is imperative to better understand participants' motivations and processing of the DTC disclaimer messages to improve the user experience.

Insights in orthodontic genetic and epigenetic knowledge and its translation in clinical practice

Applying genetic practice to current medicine has become more common and necessary in the prognosis, diagnosis and outcome of a myriad of diseases and disorders. Despite the general awareness of its importance, genetic knowledge still lacks direct application in daily orthodontic practice. The aim was to identify multiple genetic associations with orofacial phenotypes, highlight the importance of genetic influence in orthodontics, and describe challenges and gaps in integrating genetic knowledge in clinical practice. In the process, the influence of environmental factors on orofacial development and treatment is underscored, hence the role of epigenetics in regulating gene expression and tissue remodeling.

Genomic studies of the additive and dominant genetic control on production traits of Euterpe edulis fruits

In forest genetic improvement programs for non-domesticated species, limited knowledge of kinship can compromise or make the estimation of variance components and genetic parameters of traits of interest unfeasible. We used mixed models and genomics (in the latter, considering additive and non-additive effects) to evaluate the genetic architecture of 12 traits in juçaizeiro for fruit production. A population of 275 genotypes without genetic relationship knowledge was phenotyped over three years and genotyped by whole genome SNP markers. We have verified superiority in the quality of the fits, the prediction accuracy for unbalanced data, and the possibility of unfolding the genetic effects into their additive and non-additive terms in the genomic models. Estimates of the variance components and genetic parameters obtained by the additive models may be overestimated since, when considering the dominance effect in the model, there are substantial reductions in them. The number of bunches, fresh fruit mass of bunch, rachis length, fresh mass of 25 fruits, and amount of pulp were strongly influenced by the dominance effect, showing that genomic models with such effect should be considered for these traits, which may result in selective improvements by being able to return more accurate genomic breeding values. The present study reveals the additive and non-additive genetic control of the evaluated traits and highlights the importance of genomic information-based approaches for populations without knowledge of kinship and experimental design. Our findings underscore the critical role of genomic data in elucidating the genetic control architecture of quantitative traits, thereby providing crucial insights for driving species' genetic improvement.

Knowledge of genetics of hearing and genetic counseling among practicing audiologists

IntroductionHearing loss occurs during various periods of life. Around half of the world's hearing loss is considered to be inherited or genetic. Audiologists play a key role in educating the patient/family about the origin of hearing loss and counseling on genetic aspects of hearing. Genetics has been part of the curriculum in India for the specialised master’s degree in audiology since 2009. There is a need to investigate the impact of this course on the field of knowledge and practice of hearing genetics among audiologists. In this study, we examined the knowledge and practice of genetics of hearing among audiologists practicing in India. In addition, we compared graduates who learnt genetics in their curriculum with graduates who did not.MethodA thirty-six-point questionnaire was developed based on clinical and research studies conducted hitherto and inputs from practicing geneticists. The survey consists of five domains. 133 audiologists participated in the study.ResultsBased on percentage analysis, overall knowledge and practice of the genetics of hearing among the audiologists were not adequate in certain aspects of the genetics of hearing (inheritance pattern and genetic counseling). There were no significant differences in knowledge and practice between audiologists based on educational qualifications and work experience.ConclusionThis novel study compared knowledge of audiologists and practice based on their work experience and educational qualifications. The present study reported that the majority of audiologists were interested in updating their knowledge about the genetics of hearing.

New horizons in genomics for Latin America

Latin America is undergoing a change in technology and healthcare. The implementation of new technologies must go hand in hand with education to better understand the challenges ahead and find solutions. In this editorial, we highlight the importance of sharing knowledge for the advancement of society, especially in the fields of genetics and genomics. There are important achievements and challenges in the implementation of molecular diagnostics in Latin America, such as quality control, ethical dilemmas and cost-benefit analysis. For this reason, we are launching this new journal that aims to create a platform for health professionals to strengthen their knowledge and skills in clinical genetics and genomics. The editor emphasizes the value of collective knowledge and collaboration for the benefit of patients and professional development.

The Role of Genetic in Sex Orientation Preference

Purpose: The aim of the study is to examine the role of genetic in sex orientation preference.&#x0D; Methodology: This study adopted a desktop methodology. This study used secondary data from which include review of existing literature from already published studies and reports that was easily accessed through online journals and libraries.&#x0D; Findings: The study found that genetic markers and variations related to hormone regulation and neural development have been identified as potential contributors, indicating a genetic influence on sexual orientation. Epigenetic factors such as modifications in gene expression, may also be involved in shaping sexual orientation. However, it is important to note that genetics alone cannot fully determine sexual orientation, as it is influenced by a combination of genetic, biological, hormonal, and environmental factors.&#x0D; Unique Contribution to Theory, Practice and Policy: The study was anchored on evolutionary theory of sexual orientation proposed by and epigenetic theory of sexual orientation propounded by Dr. William Rice, an evolutionary biologist. The study recommended the integration of genetic knowledge into therapeutic practices can help reduce stigma and promote self-acceptance among individuals with diverse sexual orientations. It is also crucial to promote policies that protect the rights and well-being of individuals with diverse sexual orientations and address discrimination and prejudice.

A randomized controlled trial evaluating pretest cancer genetics educational video or in-person genetic counseling.

10597 Background: Cancer genetic testing indications are rapidly expanding to determine treatment eligibility for patients with cancer, to identify individual cancer risk as well as to select family members at higher cancer risk when a pathogenic variant (PV) has been identified in the family. Currently, international guidelines recommend that all candidates for genetic testing should have genetic counseling to make an informed decision for genetic testing. However, with the increased demand for genetic testing, innovative ways to deliver pretest information are needed, especially in limited resource settings, where genetic cancer professionals’ availability is scarce. Methods: This is a non-inferiority trial comparing a pretest educational video to in-person genetic counseling. Participants referred for genetic cancer risk assessment at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City were enrolled if they met international cancer genetic testing criteria and did not previously have genetic testing and/or counseling. The primary outcome was the uptake of genetic testing. Secondary outcomes included changes in genetic cancer knowledge, anxiety, and satisfaction using validated tools. Results: A total of 250 participants were included: 124 were randomized to the in-person genetic counseling arm and 126 to the educational video arm. Mean age was 47.9 years (SD 12.7), 86.4% were women, 37.2% had high-school or less and 86.4% had personal history of cancer (70% breast cancer). Overall, test acceptance was 100% in both arms. Cancer genetics knowledge improved in both groups: in-person from. 53 to .74 (diff .20; 95%CI .24-.26; p &lt; 0.05) and video from .51 to .68 (diff .16; 95%CI .20-.12; p &lt; 0.05). However, the in-person arm had a higher post counseling knowledge score (p 0.001). 43.5% and 42% of participants in the in-person and video arms had moderate-severe baseline anxiety. After intervention, both groups had a decrease in anxiety score: in-person from 5.2 to 4.7 (diff .58; 95% CI .09-1.08; p 0.01) and video from 4.9 to 4.1 (diff .75; 95%CI 0.42-1.08; p &lt; 0.05). Both groups were satisfied with genetic services (97.5% and 92.5%, respectively; p 0.34). Conclusions: A pretest educational video was non-inferior regarding genetic testing acceptance. It was also associated with improved genetic cancer knowledge and decreased anxiety levels. These results support the use of educational videos before genetic testing where in-person genetic counseling availability is limited. Clinical trial information: pending .

COVID-19: Mechanisms, risk factors, genetics, non-coding RNAs and neurologic impairments.

The novel coronavirus infection (COVID-19) causes a severe acute illness with the development of respiratory distress syndrome in some cases. COVID-19 is a global problem of mankind to this day. Among its most important aspects that require in-depth study are pathogenesis and molecular changes in severe forms of the disease. A lot of literature data is devoted to the pathogenetic mechanisms of COVID-19. Without dwelling in detail on some paths of pathogenesis discussed, we note that at present there are many factors of development and progression. Among them, this is the direct role of both viral non-coding RNAs (ncRNAs) and host ncRNAs. One such class of ncRNAs that has been extensively studied in COVID-19 is microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). Moreover, Initially, it was believed that this COVID-19 was limited to damage to the respiratory system. It has now become clear that COVID-19 affects not only the liver and kidneys, but also the nervous system. In this review, we summarized the current knowledge of mechanisms, risk factors, genetics and neurologic impairments in COVID-19. In addition, we discuss and evaluate evidence demonstrating the involvement of miRNAs and lnRNAs in COVID-19 and use this information to propose hypotheses for future research directions.

Forensic DNA phenotyping: A promising tool to predict human appearance for forensic purposes

Forensic DNA phenotyping (FDP) based on Next Generation Sequencing (NGS) is an emerging technique that is generally based on the idea that each individual is genetically unique, except monozygotic twins. This technique portrays an individual’s externally visible characteristics (EVCs) from DNA obtained from biological samples. Various studies seeking to link the relationship between polymorphisms and phenotypic characteristics are increasing and have shown promising results in helping forensic sciences and are becoming one of the most useful additional tools for helping investigating agencies in different types of criminal cases and individual’s identification. Eye, hair and skin color can now be predicted reliably and accuracy. Although, FDP has not yet been implemented routinely in the forensic science field due to the lack of complete genetic knowledge of phenotypes. Also, in some countries its application has given rise to a number of ethical, social and legal issues, which is being the most restrictive barrier to the implementation of FDP.

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.

This study explores the organizational aspects of whole genome sequencing (WGS) implementation for pediatric patients with suspected genetic disorders in Italy, comparing it with whole exome sequencing (WES). Health professionals' opinions were collected through an internet-based survey and analyzed using a qualitative summative content analysis methodology. Among the 16 respondents, most were clinical geneticists performing only WES, while 5 also used WGS. The key differences identified include higher needs for analyzing genome rearrangements following WES, greater data storage and security requirements for WGS, and WGS only being performed in specific research studies. No difference was detected in centralization and decentralization issues. The main cost factors included genetic consultations, library preparation and sequencing, bioinformatic analysis, interpretation and confirmation, data storage, and complementary diagnostic investigations. Both WES and WGS decreased the need for additional diagnostic analyses when not used as last-resort tests. Organizational aspects were similar for WGS and WES, but economic evidence gaps may exist for WGS in clinical settings. As sequencing costs decline, WGS will likely replace WES and traditional genetic testing. Tailored genomic policies and cost-effectiveness analyses are needed for WGS implementation in health systems. WGS shows promise for enhancing genetics knowledge and expediting diagnoses for pediatric patients with genetic disorders.

Homo cerevisiae-Leveraging Yeast for Investigating Protein-Protein Interactions and Their Role in Human Disease.

Understanding how genetic variation affects phenotypes represents a major challenge, particularly in the context of human disease. Although numerous disease-associated genes have been identified, the clinical significance of most human variants remains unknown. Despite unparalleled advances in genomics, functional assays often lack sufficient throughput, hindering efficient variant functionalization. There is a critical need for the development of more potent, high-throughput methods for characterizing human genetic variants. Here, we review how yeast helps tackle this challenge, both as a valuable model organism and as an experimental tool for investigating the molecular basis of phenotypic perturbation upon genetic variation. In systems biology, yeast has played a pivotal role as a highly scalable platform which has allowed us to gain extensive genetic and molecular knowledge, including the construction of comprehensive interactome maps at the proteome scale for various organisms. By leveraging interactome networks, one can view biology from a systems perspective, unravel the molecular mechanisms underlying genetic diseases, and identify therapeutic targets. The use of yeast to assess the molecular impacts of genetic variants, including those associated with viral interactions, cancer, and rare and complex diseases, has the potential to bridge the gap between genotype and phenotype, opening the door for precision medicine approaches and therapeutic development.

Genetic Structure and Selection Signature in Flora Scent of Roses by Whole Genome Re-Sequencing

Roses are important plants, and they are cultivated worldwide for their beautiful flowers, remarkable scent, and nutritious hips. In this study, we re-sequenced the whole genomes of 57 rose cultivars and one wild species that originated from different regions around the world and had different scents, aiming to evaluate their genetic structure and to detect the potential signature of the selective sweep between different scent groups with single-nucleotide polymorphism (SNP) and indel markers. The roses were sequenced at an average depth of 6× to the reference genome of Rosa ‘Old blush’. A total of 2,375,949 SNPs were obtained. The SNP numbers varied among the 58 samples, with an average of 1,271,906 per sample. The phylogeny and population structure revealed that the roses could be divided into three main clusters; however, the groups were not consistent in terms of geographic origin or scent classification. These indicated that rose cultivars have a complex genetic background due to the extensive hybridization between cultivated roses or wild rosa species worldwide. A selective sweep analysis was conducted to detect the selection signatures in rose scent traits. A total of 2430 candidate genes were identified in the strong scent groups, and were at the top 5% FST compared to the moderate group. These genes were significantly enriched in the KEGG pathways of tyrosine metabolism, cyanoamino acid metabolism, alpha-linolenic acid metabolism (13 genes), and phenylpropanoid biosynthesis (30 genes). When the low-scent group was used as the control, 2604 candidate genes were identified at the top 5% FST that were significantly enriched in the KEGG pathways of alpha-linolenic acid metabolism (15 genes), and glutathione metabolism (23 genes). We also observed genes enriched in pathways including the linoleic acid metabolism (five genes), diterpenoid biosynthesis (six genes), and monoterpenoid biosynthesis (seven genes), although they were not significant. These implied a positive selection of rose cultivars with a strong fragrance in terms of fatty acid derivatives, terpenoids and benzenoids/phenylpropanoids during rose breeding. Our study establishes a foundation for the further large-scale characterization of rose germplasm, improving the genetic knowledge of the background of roses.

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.

Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes associated with additional neurological and extrapyramidal features (complex HSP). The advent of next-generation sequencing (NGS) has led to huge improvements in knowledge of HSP genetics and made it possible to clarify the genetic etiology of hundreds of "cold cases," accelerating the process of reaching a molecular diagnosis. The different NGS-based strategies currently employed as first-tier approaches most commonly involve the use of targeted resequencing panels and exome sequencing, whereas genome sequencing remains a second-tier approach because of its high costs. The question of which approach is the best is still widely debated, and many factors affect the choice. Here, we aim to analyze the diagnostic power of different NGS techniques applied in HSP, by reviewing 38 selected studies in which different strategies were applied in different-sized cohorts of patients with genetically uncharacterized HSP.

Clinical Knowledge, Attitude, and Perceptions of Community Pharmacists Towards Pharmacogenomics - A Cross-Sectional Study from Saudi Arabia.

It is crucial to provide healthcare personnel with the necessary knowledge and understanding of genetic testing and pharmacogenomics. The purpose of this study is to assess the knowledge, attitudes, views, and considerations of Community pharmacists (CPs) about pharmacogenomics and genetics. A cross-sectional web-based study was conducted among practicing pharmacists Between January and February of 2022. Participants were recruited through a convenient sampling technique. A total of 23 item questionnaires were used to assess the Knowledge Attitudes, Views, and Considerations toward Pharmacogenomics among pharmacists. The mean age of the CPs were 28.45±7.29(Std). Among the CPs, 38.4% (98 of 255) of them were correctly identified human chromosomes, and the majority of them 73.3% knew that adverse reactions can be caused by genetic changes in the human body. A total of 194 CPs agreed that certain drugs can be affected by genetic changes in the patient. In this study, one-third (33%) of the CPs were found to have good knowledge, while most (66.3%) of the CPs were found poor knowledge of pharmacogenomics and genetics. Furthermore, the knowledge score is significantly different concerning the qualification of the CPs (p=0.0001). The current findings, demonstrated a majority of the CPs found a lack of knowledge and understanding regarding pharmacogenomics and its perspectives, there is a need to increase awareness among CPs to reduce the knowledge gap of pharmacogenomics and genetics.

Referral networks for pediatric patients with genetic conditions: The perspective of occupational therapists.

Families of children with developmental delays but no diagnosed genetic condition may benefit from connection to genetic systems of care. This work examines the role of occupational therapy as a space for families of pediatric patients to gain access to genetic services. Between September 2021 and February 2022, we interviewed 20 occupational therapists in New England who work primarily with pediatric patients. We transcribed the interviews and used a grounded theory approach to identify and code recurring themes. The data reveal several barriers to linking pediatric patients to genetic systems of care, including lack of insurance coverage, wait times for appointments and test results, hesitant primary care providers, and familial and cultural stigma of disability. We discuss the unique role of occupational therapists as professionals who spend substantial time with patients, often in their everyday environments, to bridge these barriers. We also address challenges associated with occupational therapists facilitating connections to genetics services, including their lack of specialized knowledge of genetics and barriers fully integrating with others on the medical team.

Novel insights into maize (Zea mays) development and organogenesis for agricultural optimization

In maize, intrinsic hormone activities and sap fluxes facilitate organogenesis patterning and plant holistic development; these hormone movements should be a primary focus of developmental biology and agricultural optimization strategies. Maize (Zea mays) is an important crop plant with distinctive life history characteristics and structural features. Genetic studies have extended our knowledge of maize developmental processes, genetics, and molecular ecophysiology. In this review, the classical life cycle and life history strategies of maize are analyzed to identify spatiotemporal organogenesis properties and develop a definitive understanding of maize development. The actions of genes and hormones involved in maize organogenesis and sex determination, along with potential molecular mechanisms, are investigated, with findings suggesting central roles of auxin and cytokinins in regulating maize holistic development. Furthermore, investigation of morphological and structural characteristics of maize, particularly node ubiquity and the alternate attachment pattern of lateral organs, yields a novel regulatory model suggesting that maize organ initiation and subsequent development are derived from the stimulation and interaction of auxin and cytokinin fluxes. Propositions that hormone activities and sap flow pathways control organogenesis are thoroughly explored, and initiation and development processes of distinctive maize organs are discussed. Analysis of physiological factors driving hormone and sap movement implicates cues of whole-plant activity for hormone and sap fluxes to stimulate maize inflorescence initiation and organ identity determination. The physiological origins and biogenetic mechanisms underlying maize floral sex determination occurring at the tassel and ear spikelet are thoroughly investigated. The comprehensive outline of maize development and morphogenetic physiology developed in this review will enable farmers to optimize field management and will provide a reference for de novo crop domestication and germplasm improvement using genome editing biotechnologies, promoting agricultural optimization.

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.

Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene-environment interactions. We also propose a high-level model to synthesize the interdependent effects of genetics, environmental and lifestyle factors, and ageing into a unified theory of ALS. Furthermore, we summarize the current status of therapies developed on the basis of genetic knowledge established for ALS over the past 30 years, and we discuss how developing treatments for ALS will advance our understanding of targeting other neurological diseases.

Sense in sensitivity: difference in the meaning of photoperiod insensitivity between wheat and barley.

The description of long photoperiod sensitivity in wheat and barley is a cause of confusion for researchers working with these crops, usually accustomed to free exchange of physiological and genetic knowledge of such similar crops. Indeed, wheat and barley scientists customarily quote studies of either crop species when researching one of them. Among their numerous similarities, the main gene controlling the long photoperiod sensitivity is the same in both crops (PPD1; PPD-H1 in barley and PPD-D1 in hexaploid wheat). However, the photoperiod responses are different: (i) the main dominant allele inducing shorter time to anthesis is the insensitive allele in wheat (Ppd-D1a) but the sensitive allele in barley (Ppd-H1) (i.e. sensitivity to photoperiod produces opposite effects on time to heading in wheat and barley); (ii) the main 'insensitive' allele in wheat, Ppd-D1a, does confer insensitivity, whilst that of barley reduces the sensitivity but still responds to photoperiod. The different behaviour of PPD1 genes in wheat and barley is put in a common framework based on the similarities and differences of the molecular bases of their mutations, which include polymorphism at gene expression levels, copy number variation, and sequence of coding regions. This common perspective sheds light on a source of confusion for cereal researchers, and prompts us to recommend accounting for the photoperiod sensitivity status of the plant materials when conducting research on genetic control of phenology. Finally, we provide advice to facilitate the management of natural PPD1 diversity in breeding programmes and suggest targets for further modification through gene editing, based on mutual knowledge on the two crops.