'I put it on the back burner most days': Living with chronic risk

Continued advances in genetics and genomics research suggest that more and more people will be identified 'at risk' for common diseases such as cancer, heart disease or diabetes. A perspective for understanding how people adapt to and manage inherited risk, as well as identifying differences in individual response to DNA information would be useful in the planning and provision of genetics health services. This article adopts a 'chronic risk' perspective to explore living at risk of Huntington disease (HD), a fatal genetic disorder. Qualitative data analysis suggested two broad themes that illustrated living with chronic risk: (1) biographical disruption, including threats to self-identity and changes to relationships with others; and (2) zones of relevance, the conditions under which risk is or is not salient. Findings are relevant to the provision of genetics health services, particularly in follow-up support to individuals at risk for HD and their families.     

‘Medicine’s Next Goldmine?’ The Implications of New Genetic Health Technologies for the Health Service

There is considerable uncertainty about the implications of the new genetics for health services. These are the enthusiasts who argue that molecular genetics will transform health care and others argue that the scope for genetic interventions is limited. The aim of this paper is to examine some of the questions, tensions and difficulties which face health care providers particularly in developed countries as they try to come to terms with the dilemmas raised by new genetic health care technologies (NGHTs). It identifies questions for research which may help the development of robust and flexible strategies for implementation.     

我国社区遗传学的发展现状及展望

本文介绍了"社区遗传学"在医学领域的定义及其发展简史,总结了社区遗传学在我国的发展现状,并针对目前我国存在的不足(如:缺乏对常见遗传病全面、系统的调查分析,缺乏面向社区居民的遗传咨询、遗传学筛查与诊断服务,缺乏相应的评估监测体系及社区卫生服务尚存在显著的地域不平衡等),提出了我国这一学科领域的总体发展战略目标、对策及应注意的问题,从而发挥社区遗传学在我国全民健康促进与疾病预防中应有的作用。     

Health literacy and adolescents: a framework and agenda for future research

Health literacy is an important issue in public health today, especially as patients are taking a greater role in obtaining information about their health. Health literacy is commonly defined as 'the degree to which individuals have the capacity to obtain, process, and understand basic health information and services needed to make appropriate health decisions'. While there is a large body of literature concerning health literacy and adults, few studies have focused on adolescents. Adolescents may have less interaction with the health care system and lower health care costs than adults, but they are increasingly involved with their health care, especially those with chronic illness. They are frequent users of mass media and other technology to access health information and are a target group for many health-related educational interventions. Adolescents are also at a crucial stage of development, learning skills they will carry with them into adulthood. The goal of this paper is to provide a summary of issues justifying the importance of studying health literacy as it relates to adolescents and to provide a framework and suggestions for future research.     

‘It's their blood not mine’: Who's responsible for (not) telling relatives about genetic risk?

With advances in the ‘new genetics’, an increasing number of people will have access to genetic information and predictive or susceptibility testing. Genetic knowledge has implications for individuals themselves, as well as other family members. In general, health professionals encourage people to pass on genetic risk information to their relatives. However, the disclosure of such information is not always straightforward and, consequently, some people may not be aware of their risk. If risk information is actively withheld, genetic counsellors may need to determine whether they have a duty to pass this on, particularly when preventive action can be taken. To date, little research has explored the barriers and facilitators in family communication about genetic risk. This paper draws on empirical data from a qualitative study exploring communication in families with late-onset familial disease. Interviews were conducted with participants who received genetic counselling for risk of Huntington's disease and hereditary breast or ovarian cancer. Participants' experiences of who was responsible for (not) telling relatives in their families is studied. A number of themes were identified. These were: (1) ‘whose place is it to tell’, (2) the gendering of disclosure, and (3) who is ‘family’. The implications of these findings are considered.     

Online Communication About Genetics and Body Weight: Implications for Health Behavior and Internet-Based Education

Social media, specifically online weight loss message board communities, may become an important conduit for information about genetics and body weight. This information has the capacity to influence individuals as it is naturally encountered online, or it could be strategically disseminated for public health purposes. However, little is known about how the public engages with information that they encounter related to genetic underpinnings of body weight, or how their interpretation of this information shapes health beliefs. The present study examined discussions about genetics and weight in message board communities devoted to discussion of weight loss. Fifty-four online discussions, comprising 505 individual posts from 3 weight-loss themed message boards, were coded using a closed-ended procedure. Individuals who discussed genetics and weight in online message board communities initiated these discussions mainly for personal reasons and primarily cited mass media–sourced information. Genetic causes of weight tended to be endorsed alongside behavioral causes. There was no association between cause endorsements and expressed frustration. These findings help elucidate the effects of naturally encountered information about genetics of weight. They may also have implications for the creation of online evidence-based tools to aid communication about genetic advances in ways that encourage positive dietary and physical activity behavior.     

Community genetics and community medicine

In the decades to come, molecular genetic insights and techniques will have great influence on prevention and health care. Health care providers should anticipate important new developments rather than just wait and see. For community doctors, who can impossibly oversee all relevant developments in sufficient detail, close communication with the community and clinical genetic specialists is necessary to keep pace with progress. With regard to genetic counselling and reproductive medicine, working agreements between primary care and specialist centres are important. General communication about hereditary issues can be dealt with by well informed GPs, with appropriate computerized decision support, but in order to address specific risks and disorders consultation at a clinical genetic centre is preferred. In clinical medicine, much work is being done on DNA-based 'dia-prognosis' and more targeted interventions. Estimations of when such innovations will really have an impact range from 2005 to beyond 2020, and there are still many uncertainties, especially regarding common multifactorial disorders. Community-based genetic epidemiology has become a basic science in understanding the human genome. Clinical epidemiological methodology can contribute a lot to the quality of molecular clinico-genetic studies. Long-term follow-up to evaluate predictions and interventions needs more attention, and can easily be integrated into primary care medicine. In view of the ambition to develop more tailormade interventions, research methodology will be challenged regarding n = 1 studies. With respect to counselling and clinical practice, many ethical issues, relevant for community medicine, have to be considered in the domains of both reproductive medicine and clinical practice. Doctors, patients and society, traditionally battling to reduce diagnostic and prognostic uncertainties, must now learn to cope with approaching certainties. As for all new technologies, cost-effectiveness is an important topic for genetics. Increased cost-effectiveness because of better targeted interventions may be counterbalanced by the price of the new technologies and an expanding indicated population. In view of current developments, community practitioners must integrate community genetics into their daily routine, and critically anticipate possibly relevant innovations. More efforts in genetic risk assessment and communication are necessary in undergraduate and postgraduate training. A multidisciplinary approach is needed, in collaboration with primary care-oriented genetic specialists. Efforts to educate the public and (potential) patients should start at an early age, and must focus on what (future) health care users need for a balanced appraisal of genetic information and for optimal decision making in health promotion and health care.     

Patients' literacy skills: more than just reading ability

Limited literacy contributes to suboptimal care and outcomes for patients. The Institute of Medicine noted that future work in health literacy should consider multiple literacy skills. However, lacking empirical evidence of the relationship between different literacy skills, reading skills are often used as proxies of literacy in research and practice. Using a community-based sample of 618 individuals residing in Boston, Massachusetts, and Providence, Rhode Island, the authors conducted a principal component analysis on measures of four literacy skills--reading, numeracy, oral (speaking), and aural (listening)--to examine whether and to what extent literacy can, or should, be represented by a single measure. The first principal component represented overall literacy and could only explain 60% of the total variation in literacy skills among individuals. The second principal component differentiated between numeracy/reading and the oral/aural exchange. While reading and numeracy best represent overall literacy, patients' relative strengths may vary. Those with moderate reading ability may have high oral and aural language skills. Conversely, people who have difficulties speaking with or understanding a provider may read well. Effective communication with patients should rely on the oral exchange and written health information, and not rely on a single literacy skill.     

The future of genetic research on appetitive behavior

The risk for developing obesity has a significant genetic component. Several quantitative trait loci and candidate genes have been identified using current methodological approaches however the information gained thus far is insufficient to adequately explain the genetics underlying human obesity. The completion of a draft of the human genome sequence, the potential benefit of single nucleotide polymorphisms association studies for identifying risk conferring alleles, and developing functional genomics technologies promise to accelerate obesity gene discovery. These advances, used with current evaluative tools (murine molecular genetic techniques), may increase our understanding of human obesity, and ultimately provide better approaches to diagnosis and treatment.     

Position of the Academy of Nutrition and Dietetics: Nutritional Genomics

It is the position of the Academy of Nutrition and Dietetics that nutritional genomics provides insight into how diet and genotype interactions affect phenotype. The practical application of nutritional genomics for complex chronic disease is an emerging science and the use of nutrigenetic testing to provide dietary advice is not ready for routine dietetics practice. Registered dietitian nutritionists need basic competency in genetics as a foundation for understanding nutritional genomics; proficiency requires advanced knowledge and skills. Unlike single-gene defects in which a mutation in a single gene results in a specific disorder, most chronic diseases, such as cardiovascular disease, diabetes, and cancer are multigenetic and multifactorial and therefore genetic mutations are only partially predictive of disease risk. Family history, biochemical parameters, and the presence of risk factors in individuals are relevant tools for personalizing dietary interventions. Direct-to-consumer genetic testing is not closely regulated in the United States and may not be accompanied by access to health care practitioners. Applying nutritional genomics in clinical practice through the use of genetic testing requires that registered dietitian nutritionists understand, interpret, and communicate complex test results in which the actual risk of developing a disease may not be known. The practical application of nutritional genomics in dietetics practice will require an evidence-based approach to validate that personalized recommendations result in health benefits to individuals and do not cause harm.     

Research and practice opportunities at the intersection of health education, health behavior, and genomics.

Researchers and practitioners in health behavior and health education (HBHE) can play a pivotal leadership role in the integration of genomic advances to improve the public's health. The purpose of this article is to outline research and practice opportunities at the intersection of genomics and HBHE. We begin this article by briefly summarizing the existing evidence in the literature pertaining to the public's use of genetic services, the effectiveness of genetic counseling, and the impact of genetic testing. Following this, we outline and expand on several areas that we believe are ripe for further exploration, understanding, and public health application:(a) public understanding of genetic information, (b) interventions for health behavior change, and (c) public health assurance and advocacy. This analysis has identified the need to consider potential application efforts in genomics and HBHE from an ecological perspective, with an emphasis on multiple levels of intervention and analysis.     

Patients' Literacy Skills: More Than Just Reading Ability

Limited literacy contributes to suboptimal care and outcomes for patients. The Institute of Medicine noted that future work in health literacy should consider multiple literacy skills. However, lacking empirical evidence of the relationship between different literacy skills, reading skills are often used as proxies of literacy in research and practice. Using a community-based sample of 618 individuals residing in Boston, Massachusetts, and Providence, Rhode Island, the authors conducted a principal component analysis on measures of four literacy skills—reading, numeracy, oral (speaking), and aural (listening)—to examine whether and to what extent literacy can, or should, be represented by a single measure. The first principal component represented overall literacy and could only explain 60% of the total variation in literacy skills among individuals. The second principal component differentiated between numeracy/reading and the oral/aural exchange. While reading and numeracy best represent overall literacy, patients' relative strengths may vary. Those with moderate reading ability may have high oral and aural language skills. Conversely, people who have difficulties speaking with or understanding a provider may read well. Effective communication with patients should rely on the oral exchange and written health information, and not rely on a single literacy skill.     

Assessment of genetic testing and related counseling services: current research and future directions

With the recent completion of the sequencing of the Human Genome, genetic testing will increasingly become available for a greater number of medical conditions, many of which are those that manifest in adulthood (e.g., various cancers, cardiovascular disease, diabetes) or for which little or no treatments are available (e.g., Alzheimer disease). Genetic services, defined here as those relating to genetic testing and counseling, will be with helping more individuals deal with medical information that affects their health directly, as opposed to affecting primarily the health of their offspring. This paper reviews the existing research in the genetic testing and counseling literature and presents an evaluation framework outlining the intended outcomes of genetic services. The purpose of this framework is to provide an overview of the potential outcomes of these services and highlight constructs for future research in this area. In addition, other issues that will affect the assessment of genetic services are raised, using examples from the existing literature. Ultimately, the goal of this paper is to highlight and suggest directions researchers can take to produce the information needed to guide genetic testing and counseling practice. Moreover, as genetic knowledge is increasingly applied towards the prevention and treatment of various common, chronic disease conditions, genetic information will have implications for providers outside of the traditional medical genetics realm, such as primary care providers and public health practitioners. A better understanding of the outcomes of genetic testing and counseling will provide a basis from which to ensure an appropriate application of genetic information by all those who eventually provide care and "genetic" services.     

Genetic technologies and achieving health for populations.

The remarkable progress in genetics over the last 50 years has led to the development of genetic technologies to identify or alter genes in living organisms, and these technologies can be applied to people. This article presents background information on the role of genetics in human disease, outlines the technologies, and discusses the sources of the strong push for a genetic approach to ill-health and some implications and harmful consequences of using these genetic technologies. The determinants of most diseases are complex and are embedded in a social context. To focus on only one strand of this web--the genetic strand--because it is one that may be amenable to biological/pharmaceutical treatment, although profitable for industry, does not address other important determinants of health and may lead to a harmful overemphasis on genetic approaches. The author outlines some limitations to the potential contribution of genetic technologies to population health across the globe and the need for policy development if these technologies are to have an appropriate place in health care.     

Good Googling: A Consumer Health Literacy Program Empowering Parents to Find Quality Health Information Online

Only 12% of Americans possess adequate health literacy skills. Among the populations cited with the lowest health literacy are those who experience chronic health conditions. A pilot health information literacy program was designed for parents of children with complex medical needs to help improve low health literacy in this population. The program targeted finding and determining trustworthy information online and was evaluated using a pre-post survey design. After the program parents’ confidence improved significantly in finding, interpreting, and judging quality online health information. These skills play an important role in promoting family-centered care and decreasing the burden on health care consumers.     

A success of a genetics educational intervention for nursing and dietetic students: A model for incorporating genetics into nursing and allied health curricula

Allied health care professionals and nurses provide genetic-related client services, such as eliciting family medical history information and discussing the genetic component of health conditions. However, these professionals report a lack of confidence in their ability to perform genetic services and have little formal education in genetics. A barrier to incorporating genetics into allied health curricula includes the limited flexibility to expand curricula. This barrier was addressed by incorporating a Web-based tutorial on basic genetics and a lecture on the genetics of diabetes into preexisting undergraduate nutrition courses for nursing and dietetic students. The vast majority of students enrolled in these required courses participated in the intervention. Most participants agreed that genetics is important to their future career. Following the intervention, students' knowledge of genetics and confidence in their ability to provide genetic-related services increased significantly. Despite the short-term success and positive student evaluations, a single educational intervention does not appear to be sufficient for students to become proficient in performing the recommended genetic competencies for all health care professionals. Recommendations and resources for incorporating genetics into allied health curricula are included.     

Genetics in family health care: putting it into action

This article builds on a previous article by suggesting practical ways in which genetics can be integrated into existing family health care practice. Some key skills such as collecting family history information, identifying clinical pointers suggestive of a genetic condition and knowing how to refer individuals for genetic counselling are discussed in detail. When talking about genetics, it is important to use the right words and be aware of the emotional issues that taking a family history may bring to light. Family health care practitioners are well placed to provide this support to individuals and families.     

Genetik in Gesundheitsforschung und PublicHealth

Public health practice has to date concerned itself mostly with environmental determinants of health and disease and has paid scant attention to genetic variations within the population. The advances brought about by genomics is changing these perceptions. Many predict that this knowledge will enable health promotion messages and disease prevention programmes to be specifically directed at susceptible individuals or at subgroups of the population, based on their genetic profile. Obviously, the integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. In this context, Public Health Genomics (PHG), defined as the responsible and effective translation of genome-based knowledge and technologies into public policy and health services for the benefit of population health, will encounter these chances and challenges.     

Public health genetics--potential for public health?

Although it is well understood that the disciplines of medicineand public health are different in their goals and practices,in the context of genomics this difference is even more pronounced.While medical genetics concerns the clinical decision made bya doctor to use genomic knowledge for the benefit of the patient,public health genetics may be defined as the systematic integrationof genomics into public health research, policy and practice.¹