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

Public Health Genomics 2020;23:I–IV

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

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

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: 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

Public Health Genomics 2020;23:1

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

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

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

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

Obesity is commonly associated with immunometabolic dysfunctions. Activation of inflammatory macrophages through TLR4 (toll-like receptor 4) and the anti-inflammatory impact of exercise have been and are the new concerns among researchers. A new short-term combined high-intensity interval training was proposed in young sedentary overweight/obese females. All participants were allocated to one of two

Background: In human genetics research, it has become common practice for researchers to consider returning genetic information to participants who wish to receive it. Research participants in lower-resource settings may have barriers or competing interests that reduce the benefit or relevance of such information. Thus, the decision to return genetic information in these settings may involve special

Public Health Genomics 2019;22:I–IV

OBJECTIVE Accumulated evidence suggests that ATP-binding cassette A1 transporter (ABCA1) contributes to secreting insulin in pancreatic β-cells and amyloid beta formation. This study aimed to investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 and susceptibility to type 2 diabetes mellitus (T2DM) in a Han Chinese population. METHODS A total of 996 T2DM patients

AIMS This study sought to explore the decision to participate in genomics research for African American individuals. Our overall goal was to explore (1) the attributes that significantly contribute to willingness to participate in genomics research; (2) how these attributes are interpreted (what is their meaning?); (3) how trustworthiness is estimated in the decision to participate in research (i.e

BACKGROUND Nutrigenetic tests are often considered to be less serious compared to other health-related genetic tests, although they share similar ethical concerns. Nutrigenetic tests are mainly available through direct-to-consumer genetic testing (DTC GT) and increasing in popularity. OBJECTIVE To analyze the contents of nutrigenetic DTC GT websites with respect to the adequacy of the information provided

BACKGROUND Family history (FH) is a risk factor for many conditions in pediatric practice. There is no standard of care regarding FH taking, and only a few published studies about current practice. OBJECTIVES To explore in depth pediatricians' perceptions, attitudes, beliefs, and practices regarding FH taking. METHODS The Theoretical Domains Framework (TDF) was used to develop a comprehensive interview

Europe's growing awareness of gaps in its healthcare provision is not being matched by an increase in remedial action - despite the rich transformative potential of new approaches to data. The new availability of data offers policymakers tools that would allow Europe's huge investments in health to be far better spent, by being properly targeted. The result would be far better health for far more Europeans

BACKGROUND Commercial technology-enabled personalised nutrition is undergoing rapid growth, yet its uptake in dietetics practice remains low. This survey sought the opinions of dietetics practitioners on personalised nutrition and related technologies to understand the facilitators and barriers to its application in practice. METHOD A cross-section of registered dietitians were recruited in the USA

BACKGROUND/AIMS National guidelines endorse using evidence-based tools to identify those at risk for hereditary breast and ovarian cancer (HBOC). This study aimed to evaluate whether women deemed not to be at increased risk of being a BRCA mutation carrier; the majority of those screened, recall, understand and accept the implications of these results for breast cancer risk. METHODS We conducted an

Pharmacogenomics (PGx) is increasingly being recognized as a potential tool for improving the efficacy and safety of drug therapy. Therefore, several efforts have been undertaken globally to facilitate the implementation process of PGx into routine clinical practice. Part of these efforts include the formation of PGx working groups working on PGx research, synthesis, and dissemination of PGx data and

The prospect of healthcare systems offering population-based preventive genomic testing to all adults is becoming feasible. Some single-payer or state-funded healthcare systems are already considering offering universal testing as part of routine care. In countries with public healthcare systems, there is a unique opportunity to provide such testing in the form of a national screening program, following

BACKGROUND Cancer risk assessment should stratify screening and enable preventive health interventions based on individuals' risk of developing cancer. Studies are underway to develop epigenetic tests, including trials investigating women's risk of female-specific cancers. OBJECTIVE Given potential consequences for quality of life and care, women considering such assessment need to be able to make

BACKGROUND Personal genetic information (PGI) about HIV is produced in research and entering the clinic and direct-to-consumer market, but little consideration has been given to ethical and social issues, public perspectives, and potential behavioral implications. OBJECTIVES This research queried the views of research participants at risk for or infected with HIV, exploring their perspectives on HIV-related

Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries and databases are exemplary tools capable to link research data with health programs. Since 2009, Brazil's Craniofacial Project, a multicenter and voluntary research initiative, collects socioeconomic, medical, and genetic information on individuals

Despite monumental advances in genomics, relatively few health care provider organizations in the United States offer personalized or precision medicine as part of the routine clinical workflow. The gaps between research and applied genomic medicine may be a result of a cultural gap across various stakeholders representing scientists, clinicians, patients, policy makers, and third party payers. Scientists

BACKGROUND Translational research in genomics has limited reach and requires efforts to broaden access and utility in diverse populations. Skin cancer is common and rates are rising, including among Hispanics. Germline variants in the melanocortin-1 receptor (MC1R) gene are common in the population and confer moderate risk for melanoma and basal cell cancers across skin types. Feedback about MC1R risk

BACKGROUND Biomedical research has recently moved through three stages in digital healthcare: (1) data collection; (2) data sharing; and (3) data analytics. With the explosion of stored health data (HD), dental medicine is edging into its fourth stage of digitization using artificial intelligence (AI). This narrative literature review outlines the challenge of managing HD and anticipating the potential

BACKGROUND/AIMS Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed and should be considered a priority in public health genomics. Universal screening of children for FH has been proposed, and this study explores public

Health systems around the world seek to address patients' unmet health needs for a range of acute and chronic diseases. Simultaneously, governments strive to keep healthcare spending sustainable, while providing equal access to high-quality care. This has fuelled debate around what constitutes a valuable healthcare intervention in a health system and the corollary consideration of what governments

Social health insurance is mandatory in Switzerland and covers the costs of basic medical care. In general, with regard to medicines, the costs are only reimbursed if the drug is (1) approved by Swissmedic and (2) listed on the so-called Spezia-litätenliste (SL) by the Federal Office of Public Health (FOPH). However, the SL does not include all drugs. For non-SL drugs, cost coverage is only granted

BACKGROUND Participants willing to provide genetic samples are needed to propel research on Alzheimer's disease (AD) treatment and prevention forward. A limited public understanding of what AD genetic research entails and concerns about participation may constitute recruitment challenges. OBJECTIVES This study seeks to understand how well older adults understand AD genetic research and whether their

The field of public health genomics has matured in the past two decades and is beginning to deliver genomic-based interventions for health and health care. In the past few years, the terms precision medicine and precision public health have been used to include information from multiple fields measuring biomarkers as well as environmental and other variables to provide tailored interventions. In the

BACKGROUND/AIMS Economic evaluation is integral to informed public health decision-making in the rapidly growing field of precision and personalized medicine (PM); however, this research requires specialized expertise and significant resources. Generic models are a novel innovation to efficiently address a critical PM evidence shortage and implementation barrier by enabling use of population-specific

BACKGROUND Beginning in 2005, researchers at Kaiser Permanente Northern California (KPNC) Division of Research developed the Research Program on Genes, Environment, and Health (RPGEH), a research resource of linked biospecimens, health surveys, and electronic health records on more than 200,000 adult KPNC members. This study examined multiple stakeholders' values and preferences regarding protection

BACKGROUND/AIMS Ashkenazi Jews have a 1:40 prevalence of BRCA1/2 mutations. Orthodox Jews are an understudied population with unique cultural and religious factors that may influence BRCA1/2 genetic testing uptake. METHODS Using a mixed-methods approach, we conducted a cross-sectional survey and focus groups among Orthodox Jewish women in New York/New Jersey to explore factors affecting decision-making

BACKGROUND/AIMS Excess weight gain is a result of the interaction between diet, environment, and genes. Evidence suggests that responses to lifestyle interventions to manage weight are partially modified by genetic factors. This review is aimed at summarizing the current evidence from studies done on gene variants - single nucleotide polymorphisms (SNPs) - and intervention outcomes on weight loss and

The purpose of the study was to gain new insights into innovation systems by comparing state-of-the-art of existing approaches of innovation creation and innovation management in healthcare and ICT. It is unique, in that it compares countries in Africa with countries in Europe in order to identify similarities and differences regarding the creation and management of innovations. The main similarity