Introduction: The goal of this study was to understand individuals with cerebral palsy (CP) and their family’s attitudes and preferences to genomic research, including international data sharing and biobanking. Methods: Individuals with CP and their family members were invited to participate in the web-based survey via email (NSW/ACT CP Register) or via posts on social media by Cerebral Palsy Alliance

Purpose: We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant TMEM43 p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy. This pilot

Introduction: Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved. Health provider

Introduction: The development of a family history (FH) questionnaire (FHQ) provides an insight into a patient’s familiarity of a trait and helps to identify individuals at increased risk of disease. A critical aspect of developing a new tool is exploring users’ experience. Objective: The objective of this study was to examine users’ experience, obstacles and challenges, and their views and concerns

“Integrating China in the International Consortium for Personalized Medicine” (IC2PerMed) is a coordination and support action funded within the Horizon 2020 work program. Following the guidance of the International Consortium for Personalized Medicine (ICPerMed), the project’s overarching aim is to align the European Union and China’s research agendas in the field of personalized medicine (PM) to

Background: The aim of the study was to investigate the role of the genetic variation of glutathione S-transferase M1 (GSTM1) in the development of ovarian endometriosis and endometriosis-related primary infertility risk. Methods: This case-control study included 564 women with ovarian endometriosis and 576 normal women in the control group in northern China. The polymorphism of GSTM1 was genotyped

Background: This study aimed to screen and validate the crucial genes involved in osteoarthritis (OA) and explore its potential molecular mechanisms. Methods: Four expression profile datasets related to OA were downloaded from the Gene Expression Omnibus (GEO). The differentially expressed genes (DEGs) from 4 microarray patterns were identified by the meta-analysis method. The weighted gene co-expression

Tumor genomic profiling (TGP) identifies genetic targets for precision cancer treatments. The complexity of TGP can expose gaps in oncologists’ skills, complicating test interpretation and patient communication. Research on oncologists’ use and perceptions of TGP could inform practice patterns and training needs. To study this, a sample of oncologists was surveyed to assess TGP use, perceptions, and

Introduction: Copy number variants (CNVs) are responsible for many patients with short stature of unknown etiology. This study aims to analyze clinical phenotypes and identify pathogenic CNVs in a patient with short stature, intellectual disability, craniofacial deformities, and anal imperforation. Methods: G-banded karyotyping and chromosomal microarray analysis (CMA) was used on the patient to identify

Background: In the context of medical genetics, gene hunting is the process of identifying and functionally characterizing genes or genetic variations that contribute to disease phenotypes. In this review, we would like to summarize gene hunting process in terms of historical aspects from Darwin to now. For this purpose, different approaches and recent developments will be detailed. Summary: Linkage

Introduction: Family Health Histories (FHH) have been endorsed by the surgeon general as a powerful yet underutilized tool for identifying individuals at risk for complex chronic diseases such as diabetes, heart disease, and cancer. FHH tools provide a mechanism for increasing communication about disease history and motivating behavior change to reduce disease risk. A critical gap in translation efforts

Introduction: Many research programs are challenged to accommodate low-resource research participants’ (LRRP) ancillary care needs when returning genomic research results. We define LRRP as those who are low income, uninsured, underinsured, or facing barriers to act upon the results returned. This study evaluates current policies and practices surrounding return of results (RoR) to LRRP, as well as

Background: During the past two decades, the attention of public health has been drawn to premarital genetic screening (PGS) programs to reduce birth defects and avoid genetic disorders. In Jordan, the high rate of genetic hemoglobinopathies compelled the government to implement an obligatory PGS program before marriage. Therefore, the objective of this study was to investigate the knowledge, opinion

Background: It has been convincingly suggested that a close correlation exists between the incidence of hepatocellular carcinoma (HCC) and cigarette smoking. However, the underlying effect of smoking on HCC is not clear. Methods: A binary unconditional logistic regression was used for the data on a total of 300 cases and 612 controls. The approach of functional analysis of separated alleles in yeast

Background: Genomic testing is increasingly employed in clinical, research, educational, and commercial contexts. Genomic literacy is a prerequisite for the effective application of genomic testing, creating a corresponding need for validated tools to assess genomics knowledge. We sought to develop a reliable measure of genomics knowledge that incorporates modern genomic technologies and is informative

Introduction: The growth of global sequencing initiatives and commercial genomic test offerings suggests the public will increasingly be confronted with decisions about sequencing. Understanding public attitudes can assist efforts to integrate sequencing into care and inform the development of public education and outreach strategies. Methods: A 48-item online survey was advertised on Facebook in Eastern

Introduction: Genomics is increasingly being implemented in the society. To fully realise this implementation, citizens should be consulted about their perspectives on genomics and its associated ethical, legal, and social issues (ELSI) to enable them to co-create with experts a society-supported framework in genomics. Methods: A Belgian online DNA debate was organised, where 1,127 citizens contributed

Introduction: Discussion of cancer genetic testing with health-care providers (HCPs) is necessary to undergo testing to inform cancer risk assessment and prevention. Given the rapid evolution in genetic testing practice in oncology, we describe the current landscape of population-level cancer genetic testing behaviors. Methods: A questionnaire including items regarding discussion of cancer genetic

Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of #x3c;1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate

Background: We aimed to explore the relation of XPD and XPF variants with non-small cell lung cancer (NSCLC) risk and the effect of these variants on the sensitivity to cisplatin-based chemotherapy among the Chinese Han population in high-altitude areas. Methods: Eight single-nucleotide polymorphisms (SNPs) in XPD and XPF were genotyped by Agena MassARRAY platform among 506 NSCLC cases and 510 healthy

Introduction: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants in the Glucosidase beta acid (GBA) gene result in defective functioning of glucosylceramidase that causes deposition of glucocerebroside in cells. GD has 3 major types namely, non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III)

Introduction: Women with family history of diabetes (FHD) are at significantly increased risk of developing gestational diabetes mellitus which may eventually lead to type 2 diabetes mellitus (T2DM) in later life. Objective: This study investigates the role of FHD on metabolic markers and gene polymorphisms and hence on T2DM susceptibility in nondiabetic pregnant women and the subsequent risks in their

Background: Natural history (NH) studies, using observational methods, are common in rare and orphan diseases (80% of which have a genetic component). There is profound interest in identifying genetic mutations driving these diseases in these studies to support the formulation of targeted precision medicines. The global regulatory classification of NH studies with novel molecular biomarker collection

Background and Aim: Mapping the power, interest, and stance of stakeholders is a cornerstone for genomic medicine implementation. In this study, we aimed at mapping the power/interest of various stakeholders in United Arab Emirates (UAE) and exploring their attitudes toward pressing health genomics aspects. The overarching aim of this study is to facilitate the construction of a road map for the full

Introduction: The objective of this study was to examine the association between type 2 diabetes mellitus (T2DM) and genes identified in previous genome-wide association studies (GWASs) in rural Han Chinese adults. Methods: This prospective study included 1,832 adults aged ≥18 years in Deqing without diabetes at baseline. The subjects were followed up for 8.7 years on average. We selected 45 susceptible

Aims: The goal of this project was to better understand the motivating and discouraging factors toward genetic research and biobank programs in patients with bipolar disorder, particularly across gender and racial identities. Methods: A survey (n = 63) of adults diagnosed with bipolar disorder was conducted at the general psychiatric inpatient unit and outpatient clinic at the University of Mississippi

Introduction: Customer data from direct-to-consumer genetic testing (DTC GT) are often used for secondary purposes beyond providing the customer with test results. Objective: The goals of this study were to determine customer knowledge of secondary uses of data, to understand their perception of risks associated with these uses, and to determine the extent of customer concerns about privacy. Methods:

Purpose: The aim of the study was to characterize experiences of Latino participants receiving genomic screening results. Methods: Participants were recruited at a federally qualified health center in the USA. In-person, semi-structured interviews were conducted in either Spanish or English by a bilingual, bicultural interviewer. Questions focused on motivations for pursuing genomic sequencing, concerns

Objective: Precision medicine raises hope for translating genetic-based knowledge about psychiatric risks into mental health benefits by motivating health-related, risk-reducing behaviors. Teenagers (ages 14–17) are an important age-group to engage in preventive efforts but, their views about psychiatric genetics are understudied. Method: An online survey with a nationally representative sample of

OBJECTIVE The aim of this study was to gain insight into the understanding of genetics and perceptions on the ethical issues related to genotype disclosure of the participants in a nutrigenetic study. METHODS A close-ended questionnaire was developed based on literature and discussions among the research group members. The questionnaire contained a -total of 33 questions, which were divided into 4

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Despite growing awareness about the potential for genomic information to improve population health, lingering communication challenges remain in describing the role of genomics in public health programs. Identifying and addressing these challenges provide an important opportunity for appropriate communication to ensure the translation of genomic discoveries for public health benefits. In this commentary

INTRODUCTION Pharmacogenetic (PGx) testing can be useful for providing information about a patient's drug response by increasing drug efficacy and decreasing the incidence of adverse drug events. While PGx tests were previously only offered to patients under healthcare provider supervision, they are now available as direct to consumer (DTC) tests. This study aimed to assess how accurately individuals

INTRODUCTION SARS-CoV-2 is a new type of coronavirus causing a pandemic severe acute respiratory syndrome (SARS-2). Coronaviruses are very diverting genetically and mutate so often periodically. The natural selection of viral mutations may cause host infection selectivity and infectivity. METHODS This study was aimed to indicate the diversity between human and animal coronaviruses through finding the

BACKGROUND Microsatellites or simple sequence repeats (SSR) are related to genomic structure, function, and certain diseases of taxonomically different organisms. OBJECTIVE To characterize microsatellites in two closely related Candida species by searching and comparing 1-6 bp nucleotide motifs and utilizing them to develop species-specific markers. METHODS Whole-genome sequence was downloaded from

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Genetic factors significantly contribute to the burden of hearing impairment (HI) in Ghana as there is a high carrier frequency (1.5%) of the connexin 26 gene founder variant GJB2-R143W in the healthy Ghanaian population. GJB2-R143W mutation accounts for nearly 26% of causes in families segregating congenital non-syndromic HI. With HI associated with high genetic fitness, this indicates that Ghana

Aims: This study was undertaken to examine how a layperson is likely to interpret genetic information delivered in a clinical setting. Methods: A novel survey was designed to engage the reader in a simulated discussion of heritability as it might relate to human disease. The survey took approximately 5 min to administer. 307 individuals of different backgrounds completed the survey in the outpatient

Background: Clinical demand for nutrigenomics testing (NGT) is increasing, underscoring the importance of assessing healthcare professional (HCP) competence and clinical actions with NGT in practice. While previous studies have explored HCP perceptions of NGT, no study has examined real HCP experiences with NGT in practice. Objective: The objective of this study was to evaluate the clinical experience

Background: Sirtuin 6 gene (SIRT6) is a longevity gene that is involved in a variety of metabolic pathways, but the relationship between SIRT6 methylation and longevity has not been clarified. Methods: We conducted a case-control study on 129 residents with a family history of longevity (1 of parents, themselves, or siblings aged ≥90 years) and 86 individuals without a family history of exceptional

Introduction: Development of genomic technologies has an important impact on patient management in medicine. Nevertheless, translation of new advances of genomic medicine in primary care is challenging and needs to be adapted to the needs of health systems. Objective: The objective of this study was to analyze the current state of the use and the level of confidence in genetic management activities

Background: Psychiatric genetics has had limited success in translational efforts. A thorough understanding of the present state of translation in this field will be useful in the facilitation and assessment of future translational progress. Purpose: A narrative literature review was conducted. Combinations of 3 groups of terms were searched in EBSCOhost, Google Scholar, and PubMed. The review occurred

Background: Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore

Purpose: In this brief report, we ask whether women’s interpretation of breast cancer risk based on their low likelihood of carrying a BRCA1/2 mutation is associated with their information-sharing behavior, and whether misinterpretation is associated with motives for sharing the result. Methods: Women in mammography clinics who completed a brief family history assessment and deemed to be at low likelihood

Introduction: The presence of Merkel cell polyomavirus (MCPyV) was identified in Merkel cell carcinoma (MCC). However, there was sparse information on the link of other common nonmelanoma skin cancers – basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) – to MCPyV infection. The current study describes the phylogenetic information of MCPyV isolated from Iranian non-MCC (nonmelanoma skin cancers)

Introduction: The complex genetic diversity among human populations results from an assortment of factors acting at various sequential levels, including mutations, population migrations, genetic drift, and selection. Although there are a plethora of DNA sequence variations identified through genome-wide association studies (GWAS), the challenge remains to explain the mechanisms underlying interindividual

Objective: To show how state health agencies can plan and evaluate activities to strengthen the evidence base for public health genomics, we mapped state cancer genomics activities to the Doyle et al. [Genet Med. 2018;20(9):995–1003] implementation science outcome framework. Methods: We identified state health agency activities addressing hereditary breast and ovarian cancer and Lynch syndrome by reviewing

Introduction: Biospecimens are tools that have the potential to improve early identification and treatment for autism spectrum disorders (ASD) and bipolar disorders (BPD). Unfortunately, most biobanks lack racial/ethnic diversity. One challenge to including a diverse sample of youth is recruiting and engaging families. Objective: We sought to better understand facilitators and barriers to participation

Introduction: Genomic tests can predict risk and tailor screening recommendations for colorectal cancer (CRC). Primary care could be suitable for their widespread implementation. Objective: We aimed to assess the feasibility and acceptability of administering a CRC genomic test in primary care. Methods: Participants aged 45–74 years recruited from 4 Australian general practices were offered a genomic

Background: Human genetic resources are an important material component for life science research and have strategic significance for medical science and technological innovation. In this study, we employ frameworks from social psychology and the science of human behavior to study human genetic resource providers. Aims: We used structural equation techniques to explain factors affecting the intention

Swedish national breast cancer guidelines recommend that all women diagnosed with breast cancer (BC) at the age of 35 years or younger should be referred to their regional oncogenetic clinic for genetic counseling and testing, regardless of family history of cancer. The main objective of this study was to evaluate whether place of residence at BC diagnosis and treating hospital were associated with

Background: Increasing studies have reported that 5′-nucleotidase cytosolic II (NT5C2) has a strong relationship with coronary heart disease (CHD) development. This study was designed to examine the relationship between NT5C2 polymorphisms and CHD in the Chinese Han population. Methods: We studied 501 CHD patients and 496 healthy controls from the Second Affiliated Hospital of Hainan Medical University

Rising prices for new, transformative therapies are challenging health systems around the world, leading many payers and providers to begin rationing access to treatments, even in the countries that have been most resistant to doing so. This is the case for direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV). However, little attention has been paid to the increasing role that

Introduction: Genetic risk modifier testing (GRMT), an emerging form of genetic testing based on common single nucleotide polymorphisms and polygenic risk scores, has the potential to refine estimates of BRCA1/2 mutation carriers’ breast cancer risks. However, for women to benefit from GRMT, effective approaches for communicating this novel risk information are needed. Objective: To evaluate patient

Background: Diabetes is one of the most common metabolic diseases in humans that cause disruption in glucose and fat metabolism. The determination of the ABO blood group system is hereditary and both diabetes and blood groups have a genetic basis. Objectives: The aim of this study was to investigate the odds of type 2 diabetes for some blood groups. Methods: This case-control study was conducted in

Background: Most genetics studies lack the diversity necessary to ensure that all groups benefit from genetic research. Objectives: To explore facilitators and barriers to genetic research participation. Methods: We conducted a survey on genetics in research and healthcare from November 15, 2017 to February 28, 2018 among adult Kaiser Permanente (KP) members who had been invited to participate in the

Introduction: To address ethical concerns about the of future research authorization, biobanks employing a broad model of consent can design ongoing communication with contributors. Notifying contributors at the time of sample distribution provides one form of communication to supplement broad consent. However, little is known about how community-informed governance might anticipate contributor responses

Introduction: Genetic variations in the slow component of the delayed rectifier potassium channels (IKs) are reported to contribute to an increased susceptibility to arrhythmias. This study aims to investigate the frequency and the possible association of the rs2236609 polymorphism in the KCNE1 gene and the risk of atrial fibrillation (AF). Methods: This was a case-control study that recruited 100

Purpose: Returning genetic results to research participants is gaining momentum in the USA. It is believed to be an important step in exploring the impact of efforts to translate findings from research to bedside and public health benefits. Some also hope that this practice will incentivize research participation, especially among people from historically marginalized communities who are commonly underrepresented