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

OBJECTIVES Little is known about genetic research participants' responses to receiving individual research results (IRR) from cancer genetic research. We examined the immediate and delayed psychological impact of returning a CDKN2A variant result that is associated with increased risk of pancreatic cancer and melanoma. METHODS One hundred and thirty-three pancreas research registry enrollees whose

INTRODUCTION Public willingness to collect personal family health history (FHH) assessments is integral to implement population screening to identify those at high cancer risk who could benefit most from lifesaving interventions. Yet, surprisingly little consideration has been given to factors associated with the public's perceived importance of FHH in the context of cancer. METHODS Using data from

Personalised medicine promises to revolutionise healthcare, with its key goal of providing the right treatment to the right patient at the right time, and thus the potential of improving quality of life and helping to bring down healthcare costs. However, a major problem with broader implementation of personalised medicine is patient access to new drugs, devices and treatments. The fact that a new

BACKGROUND Genetic knowledge, which plays important functions in our understanding of science, health, social groupings, and even behaviour, has been evaluated in past studies with various populations. This wide reach of genetics means that different types of items are used to assess genetic knowledge, which restricts meaningful comparisons across time- and locale-based studies. AIM The present study

BACKGROUND An international workshop on cancer predisposition cascade genetic screening for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) took place in Switzerland, with leading researchers and clinicians in cascade screening and hereditary cancer from different disciplines. The purpose of the workshop was to enhance the implementation of cascade genetic screening in Switzerland

BACKGROUND The nationwide use of the 21-gene recurrence score (21-RS) and implications regarding chemotherapy administration in relation to clinical risk in early breast cancer patients are investigated. METHODS Breast cancer patients surgically treated between 2014 and 2016 were selected from the Netherlands Cancer Registry and categorized as having a clinical low, intermediate, or high risk of developing

BACKGROUND Family health history tools have the ability to improve health outcomes and promote patient-provider communication, but some research suggests their effectiveness is limited. Tool design features may heavily influence users' perceptions of the tools. AIMS This study provides a summative evaluation of the Family HealthLink tool, which assesses cancer and coronary heart disease risk based

AIM To develop a process for returning medically actionable genomic variants to Latino patients receiving care in a Federally Qualified Health Center. METHODS Prior to recruitment, researchers met with primary care providers to (1) orient clinicians to the project, (2) establish a process for returning actionable and nonactionable results to participants and providers through the electronic health

BACKGROUND The growing availability of genomic information to the public may spur discussion about genetics and genomics on social media. Sites, including Twitter, provide a unique space for the public to access and discuss health information. The objective of this study was to better understand how social media users are sharing information about genetics and genomics in health and healthcare and

BACKGROUND/AIMS Access to preconception carrier screening, which provides at-risk couples with more reproductive options, is critically important. To address this need in the Jewish community, genetic counselors at Emory University launched JScreen (www.jscreen.org), a national online genetic disease education and carrier screening program. To reach the preconception demographic, JScreen initiated

BACKGROUND With interest in personalised health care growing, so is interest in personal genetic testing. This is now offered direct-to-consumer, thereby referred to as direct-to-consumer genetic testing (DTC-GT). Criticisms have been expressed on whether a truly informed decision to undergo testing is made with regard to these services. In order to provide relevant information to achieve this, knowing

OBJECTIVES Genomic information will increasingly be used to aid in the prevention, diagnosis, and treatment of disease. Several national initiatives are paving the way for this new reality, while also promoting new models of participant-engaged research. We compare the opinions of research participants in a cancer registry, human genetic researchers, and institutional review board (IRB) professionals

BACKGROUND AND OBJECTIVE Advances in omics open new opportunities for cancer risk prediction and risk-based screening interventions. However, implementation of risk prediction in clinical practice may impact the ethical, legal, and regulatory aspects of current cancer screening programs. In order to support decision-making, we analyzed the ethical, legal, and regulatory issues and developed a set of

BACKGROUND Residual tissue samples, i.e., samples excised for diagnosis or during treatment, are commonly used for medical research. In the Netherlands, they can be used provided the patient did not opt out of this use. Previous research has shown that recall of the informed consent procedure for tissue use is poor. Here, we investigate recall of three consent procedures: informed consent, opt-out

The expansion of European small and medium-sized enterprises (SMEs) into the healthcare innovation arena suggests that this should be an important EU policy priority that can significantly benefit the economy, society and citizens, including patients. Deepening and widening of Europe's SMEs' growth and activities is part of the EU objectives as set out by the European Commission in its Communications

BACKGROUND/AIMS Recent genomic medicine initiatives underscore the importance of including diverse participants in research. Considerable literature has identified barriers to and facilitators of increasing diversity, yet disparities in recruiting and retaining adequate numbers of participants from diverse groups continue to limit the generalizability of clinical genomic research. METHODS The North

INTRODUCTION Currently, abundances of highly relevant health data are locked up in data silos due to decentralized storage and data protection laws. The health data cooperative (HDC) model is established to make this valuable data available for societal purposes. The aim of this study is to analyse the HDC model and its potentials and challenges. RESULTS An HDC is a health data bank. The HDC model