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Background: As advances in genetics are becoming increasingly relevant to mainstream healthcare, a major challenge is to ensure that these are integrated appropriately into mainstream medical services. In 2003, the Department of Health for England announced the availability of start-up funding for ten 'Mainstreaming Genetics' pilot services to develop models to achieve this., Methods: Multiple methods were used to explore the pilots' experiences of incorporating genetics which might inform the development of new services in the future. A workshop with project staff, an email questionnaire, interviews and a thematic analysis of pilot final reports were carried out., Results: Seven themes relating to the integration of genetics into mainstream medical services were identified: planning services to incorporate genetics; the involvement of genetics departments; the establishment of roles incorporating genetic activities; identifying and involving stakeholders; the challenges of working across specialty boundaries; working with multiple healthcare organisations; and the importance of cultural awareness of genetic conditions. Pilots found that the planning phase often included the need to raise awareness of genetic conditions and services and that early consideration of organisational issues such as clinic location was essential. The formal involvement of genetics departments was crucial to success; benefits included provision of clinical and educational support for staff in new roles. Recruitment and retention for new roles outside usual career pathways sometimes proved difficult. Differences in specialties' working practices and working with multiple healthcare organisations also brought challenges such as the 'genetic approach' of working with families, incompatible record systems and different approaches to health professionals' autonomous practice. 'Practice points' have been collated into a Toolkit which includes resources from the pilots, including job descriptions and clinical tools. These can be customised for reuse by other services., Conclusions: Healthcare services need to translate advances in genetics into benefits for patients. Consideration of the issues presented here when incorporating genetics into mainstream medical services will help ensure that new service developments build on the body of experience gained by the pilots, to provide high quality services for patients with or at risk of genetic conditions.

The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.

Background: Stakeholders who are committed to bridge the gap in genetics services need to be aware of current initiatives in sub-Saharan Africa., Methods: We reviewed selected experiences from African geneticists that led to specific recommendations., Results: The initiation of prenatal diagnosis of sickle cell anaemia founded the first medical genetic service in Cameroon. There remains a need for international collaborative effort to overcome the lack of human, technical and financial resources around the practice of medical genetics in Africa. The African Society of Human Genetics, Wellcome Trust and NIH have recently proposed a model on how to fully engage Africa in genomics. It includes a 'Health and disease' phase I: use of the case-control design to study genetic and epidemiological determinants of 7 important diseases in Africa, and a 'Genetic variation' phase II: comprehensive documentation of genetic variations in 100 carefully selected ethnic groups across Africa. The strategy would require the development of: (1) clinical phenotyping centres, (2) molecular phenotyping centres, (3) genotyping and sequencing capability, (4) data centres, and (5) a bio-repository in Africa., Conclusions: Governments and international health agencies need to recognise that genetics is important to the global medical community. The initiatives of African geneticists need advocacy and encouragement from the international community., (Copyright © 2010 S. Karger AG, Basel.)

The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to collections of mutations causing specific diseases has become essential for appropriate genetic health care. Because information has accumulated, it has become apparent that there are many gaps in our ability to correctly annotate all the changes that are being identified at ever increasing rates. The Human Variome Project (www.humanvariomeproject.org) was initiated to facilitate integrated and systematic collection and access to this data. This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities.

In an effort to increase the awareness of genetics among African-American nurses, a pilot study was conducted with members of the National Black Nurses Association (NBNA) in order to assess the interest, knowledge, and practice of African-American nurses regarding genetics and to identify program needs. Self-administered surveys were distributed to a convenience sample of 77 African-American nurses (N=77) attending the 2006 Annual Conference of the National Black Nurses Association (NBNA) in Hollywood, Florida. Measures of central tendency and frequencies were used to analyze the data. Over half the sample (56%) self-reported their knowledge of genetics as being only fair or poor; however, 56% were interested in genetic awareness training, and 93.5% were willing to participate in planned genomic education. An unexpected finding was that 77.9% believed that genetic tests could be used to discriminate against minorities. Although this sample reported limited genetics/genomic knowledge, their interest in genetics training and the incorporation of genetics into daily practice was high. These data can be used to support the development and implementation of culturally appropriate genetic awareness training. Challenges for the organization include identification of the type of venue to use for genetic/genomic awareness training and identification of resources and partnerships to support NBNA members in gaining genetic awareness training.

The Human Genome Project will change how health is defined and how disease is prevented, diagnosed, and treated. As the largest group of health care providers in contact with patients, nurses need to be competent in the science of genetics. Beyond this, nurses need to understand the complexities that arise in genomic health care. Ethical, legal, and social issues are integral to the delivery of genomic health care, and nurses must have an astute understanding of such complexities. What it means to know, to reason, and to act in this postgenomic age is explored.

The purpose of this article is to identify published recommendations for genetics and genomics competencies or curriculum for nurses in the United States and to summarize genetic and genomic nursing competencies based on common themes among these documents. A review of the literature between January 1998 and June 2008 was conducted. Efforts were also made to access the gray literature. Five consensus documents describing recommendations for genetics and genomics competencies for nurses meeting inclusion criteria were analyzed. Twelve genetics and genomics competencies were created based on common themes among the recommendations. These competencies include: demonstrate an understanding of basic genetic and genomic concepts, provide and explain genetic and genomic information, refer to appropriate genetics professionals and services, and identify the limits of one's own genetics and genomics expertise. The competencies represent fundamental genetics and genomics competencies for nurses on the basis of common themes among several consensus recommendations identified in the literature., (Copyright 2009, SLACK Incorporated.)

The neonate born with a genetic defect or fetal anomaly presents a challenge to the neonatal intensive care unit team. Typically genetic disorders are thought of as being rare; however, this is not true, and it is becoming increasingly evident as knowledge and technology progress. A definitive diagnosis is essential for management and care of the neonate and the neonate's family. An evidence-based approach to the neonate who has a suspected genetic anomaly is essential to provide accurate diagnosis and to guide ongoing care. This article gives an overview of basic genetics and genetic counseling, and applies the principles to two case studies.

Background: Many children receiving hospice care are affected by inherited genetic conditions. To provide appropriate care, children's hospice nurses require knowledge and awareness of the issues faced by the child and their family along with the implications of having, or being at risk from, an inherited genetic condition. Little is currently known about the competence levels of children's hospice nurses to support these children and their families., Aim: This study aims to explore how important children's hospice nurses perceived genetics to be within children's hospice care provision, and their level of confidence in meeting the care needs of children and their families with a genetic predisposition to disease., Method: This study involved two stages: a single-page survey to children's hospice directors of nursing designed to determine the nature of children's hospice care provision in England and Wales. Second, a postal survey using a structured, self-administered questionnaire was sent to nursing staff in a sample of children's hospices in England and Wales. A total of 277 packs were sent to the hospices for distribution to children's nurses working in their employment. Likert scales were used to rate the importance of genetic activities relevant to children's hospices, and nurses' confidence in performing them. Demographic data were also collected. The results, the discussion of the findings and implications for practice will be discussed in part 2.

Purpose: Our work is the first documentation, in real time, of workflow in a general genetics department including data on patient care, research, and other activities for both clinical geneticists and genetic counselors., Methods: All physician geneticists and genetic counselors in the medical genetics department used an electronic tool to record their activities in 15 minute increments during clinic hours, evenings, and weekends over a 10-week period., Results: The average work week was 54.1 hours for physicians and 43.5 hours for genetic counselors. During clinic hours physicians spent about one-fourth of their time on direct patient care, one-fourth on other patient-related activities, one-fourth on research unrelated to individual patient care, and the remaining fourth on all other activities. However, after hours and on weekends they spent most of their time on research. Genetic counselors spent half of their time on patient-related activities, one-fourth on direct patient care, and the remainder on all other activities. The total professional time averaged 7 hours per new patient and 3.5 hours per follow-up with nearly 60% of this time devoted to patient-related activities., Conclusions: The labor intensive nature of clinical genetics, the large amount of time devoted to patient-related activities, and continuing limitations on billing by genetic counselors all contribute to the financial challenges faced by genetics departments.

Purpose: To explore the role of genetic association studies in risk assessment for common complex diseases., Organizing Framework: An introduction to the types of genetic association studies is followed by a discussion of their potential use in risk assessment for age-related macular degeneration and type 2 diabetes mellitus. The benefits and limitations of this burgeoning technology are explored and related to nursing practice and scholarship., Conclusions: Nurses in practice must be prepared to assist clients with decisions about seeking and interpreting results from genetic association studies and nurse researchers must apply current guidelines for conducting robust studies and applying the results of such studies in clinical practice., Clinical Relevance: Data collected from genetic association studies will increasingly be used to identify novel prevention and treatment strategies for many complex diseases. An understanding of the principles that underlie this new science is essential for nurses in all areas of clinical practice as they design, test, and implement appropriate intervention and prevention strategies based on genetic association studies.

The sudden death of a young person is a devastating event for both the family and community. Over the last decade, significant advances have been made in understanding both the clinical and genetic basis of sudden cardiac death in the young. Many of the causes of sudden death in the young are due to genetic heart disorders, which can lead to both structural (e.g. hypertrophic cardiomyopathy) and arrhythmogenic (e.g. familial long QT syndrome) abnormalities. Most commonly, sudden cardiac death in the young can be the first presentation of an underlying heart problem, leaving the family at a loss as to why an otherwise healthy young person has died. Not only is this a tragic event for those involved, but it also presents a medical challenge to the clinician involved in the management of the surviving family members. Evaluation of families requires a multidisciplinary approach, which should include cardiologists, a clinical geneticist, a genetic counsellor and the forensic pathologist directly involved in the sudden death case. This multifaceted cardiac genetic service is crucial in the evaluation and management of the clinical, genetic, psychological and social complexities observed in families in which there has been a young sudden cardiac death.

Purpose: To describe the development and process of consensus used to establish essential genetic and genomic nursing competencies relevant to the entire nursing profession in the United States (US) regardless of academic preparation, role, practice setting, or clinical specialty., Organizing Construct: Rogers' diffusion of innovation theory applied to the adoption of genetics and genomics as the central science for health care., Methods: Multiphased national nursing initiative to develop, refine, and establish with consensus essential competencies in genetics and genomics for all nurses., Findings: Genetics and genomics have emerged as the central science for health care in the 21st century, transforming recommendations for nursing education, practice, regulation and quality control., Conclusion: The Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics indicate the minimal criteria for competency in genetics and genomics for the entire nursing profession in the US.

Cancer genetics is a rapidly evolving field that is becoming an integral part of a cancer patient's care. Until recently little genetics had been taught in the nursing curricula but a recent drive by the Department of Health is resulting in the integration of genetics into nurse training.

The media seem to announce a new scientific discovery related to cancer daily. Oncology nurses are challenged to keep up with the explosion of new knowledge and to understand how it ultimately relates to the care of patients with cancer. A framework for classifying new knowledge can be useful as nurses seek to understand the biology of cancer and its related implications for practice. To understand the molecular roots of cancer, healthcare practitioners specializing in cancer care require insight into genes, their messages, and the proteins produced from those messages, as well as the new tools of molecular biology.

The integration of molecular genetics approaches into the study of complex health phenomena is an increasingly important and available strategy for researchers across the health science disciplines. Pain sensation and response to painful stimuli are examples of complex health phenomena that are particularly amenable to molecular genetics approaches. Both human and animal model research suggests that differences in these responses may be related, in part, to variation in the genes that modulate sensation and behavior. The authors are currently managing a large cross-disciplinary research effort to identify child characteristics, including genotypes, that predict the degree of distress displayed by children following a painful medical procedure (i.e., IV insertion). The purpose of this article is to describe the strategies used to integrate molecular genetics methods into this project. The authors discuss the steps needed to complete this process, including (a) establishing a collaboration with genetics researchers and laboratory facilities, (b) developing and implementing a plan to manage biologic samples, and (c) incorporating genetics into the informed consent process.

Objective: This paper focuses on the first two years of operation of Genetics Home Reference (GHR), a Web-based resource for the general public that helps to explain the health implications of findings from the Human Genome Project., Methods and Findings: Key challenges of Web-based consumer health communication encountered in the growth and maintenance of GHR are discussed: prioritizing topics for GHR, streamlining the development process while keeping genetic information accurate, and designing a system that helps consumers navigate complex genetic relationships. Various strategies are used to address these challenges. Tying content development to topics of national priority and addressing topics requested by users makes the site increasingly important for both consumers and health professionals. Informatics methods are essential for quality control, particularly for genetic information that changes frequently. Indexing and hierarchical browsing features help to facilitate navigation., Conclusions: GHR is a credible, dynamic Website that uses lay language to explain the effects of genetic variation on human health. Informatics strategies are key to effective management of a large and expanding body of genetics information. Feedback from formal and informal sources indicates increasing usage and favorable acceptance of GHR.

Advances in human genetics have led to considerable changes in the way health professionals, especially nurses, understand and care for their patients. This article is focused on the clinical implications of genetic aspects of conditions of the head and neck, written for otorhinolaryngology (ORL) and head-neck nurses, but relevant for other nurses as well. This article presents information about basic inheritance patterns (autosomal dominant and recessive, X-linked, and mitochondrial) and compares single-gene disorders to complex or mutifactorial diseases. Cleft lip and palate disorders (Robin sequence and Van der Woude syndrome) and other craniofacial conditions (craniosynostosis, Treacher-Collins syndrome, and velo-cardio-facial syndrome) are discussed along with non-syndromic and syndromic hearing loss. Discussion of the psychosocial aspects of genetic conditions of the head and neck and a glossary of genetic terms are included.

Modern advances in human genetic and reproductive technologies are among the recent developments disturbing the balance between the spiritual and the material components of life. This paper gives an Islamic perspective on some of these advances, including abortion, in vitro fertilization, genetic engineering, cloning and stem cell research.

Purpose: To describe characteristics and professional roles of genetics nurses in advanced practice., Design: A cross-sectional descriptive survey administered in 2004 as one component of a comprehensive study of genetic services and the health workforce. The sample was 211 U.S. members of the International Society of Nurses in Genetics., Methods: The survey included demographic characteristics, education, credentials, professional roles, and attitudes about genetic healthcare issues., Findings: The majority of respondents had master's degrees and many had earned doctorates in nursing (20%) or other fields (12%). Thirty-one percent were certified as nurse practitioners; 57% provided direct patient care, with the largest percentage working in genetics (26%) or oncology (22%) settings. Over one-third were educators and 19% conducted genome-related research., Conclusions: Genetics nurses in advanced practice in the US focus on both genomic discoveries and clinical health care through the application of genomic knowledge into health care, research, and nursing education.

Stigmatization in research sustains the spread of the silent epidemic of Alzheimer's disease (AD) in African American populations. Researchers use stereotypes and inappropriate assumptions to select a paradigm to examine the symptoms of AD. This paradigm fails to encompass the symptoms as manifested by African American elders. Yet, stigmatization can be minimized by recognizing the genetic heterogeneity of the symptoms within the general population, especially those manifested by African American elders. Thus, researchers can utilize pioneering genetic analyses to identify other paradigms critical in the assessment and proactive treatment of the symptoms of AD needed for this vulnerable population.

Because biologic diversity is essential for life, genes have developed many versions that may be further modified by interaction with other genes and with environmental factors. Polymorphic alterations of genetic material influence drug responses, predisposition or resistance to disease, and susceptibility to environmental toxicity. The occupational health professional should be aware of rapidly changing genetic tests, be able to distinguish between screening and diagnostic modalities, be able to access genetic resources to find the latest protocols, and should consider the ethical, legal, and social implications of genetic testing in the workplace.

The purpose of this qualitative study was to describe nurses' roles in providing clinical genetic services related to adult onset hereditary disease and factors that influence genetic nursing practice in Canada. The study involved semi-structured telephone interviews with 22 nurses from 5 Canadian provinces with full-time or part-time roles in providing genetic services. The interviews included open-ended questions to elicit descriptions of genetic nursing roles and factors that support and limit opportunities in genetic nursing practice. Thematic analysis of the transcribed interviews revealed that, in addition to genetic counselling, the nurses reported a wide range of roles and responsibilities related to the provision of genetic services that drew directly on their nursing background (e.g., patient assessment, health promotion). Factors identified as supporting genetic nursing roles included nursing background, being part of a multidisciplinary team, and receiving mentorship. Challenges in establishing roles in genetic nursing were related to role ambiguity, lack of recognition of nursing expertise, limited availability of genetics education, isolation, and instability of nursing positions. Recommendations to support the development and expansion of genetic nursing practice were identified. A coordinated national effort among all stakeholders is needed to provide the resources necessary to support the appropriate and effective use of nursing expertise as genetics is integrated into the Canadian health-care system.

Society is currently on the threshold of a new revolution in understanding the interaction of genes and the environment. This research has profound implications for understanding occupational disease and will present ethical challenges to occupational health practice. The public must be educated about the potential promise, as well as the threats, posed by emerging genetic technologies.

In view of the increasing demands for genetic counselling and DNA diagnostics in cardiogenetics, the roles of cardiologists and clinical geneticists in the delivery of care need to be redefined. We investigated the preferences of both groups of professionals with regard to the future allocation of six cardiogenetic responsibilities in counselling and testing, using hypertrophic cardiomyopathy (HCM) as a prevalent model disease. In this cross-sectional survey, the participants were Dutch cardiologists (n = 643) and clinical geneticists (n = 60), all members of professional societies. Response rates were 33 and 82%, respectively. In both groups, the majority preferred to perform most of the tasks described above in collaboration. Informing HCM patients about the genetics of HCM and requesting DNA testing in symptomatic patients was viewed by 43 and 35% of cardiologists, respectively, as their sole responsibility, however, and 39 and 59% of clinical geneticists did not object to these views. Both groups felt that the task of discussing the consequences of HCM for offspring and that of discussing the results of DNA diagnostics should be shared or performed by clinical geneticists. Both groups considered co-ordination of family screening the sole responsibility of clinical geneticists. Opinions on who should request DNA diagnostics in asymptomatic relatives were divided: 86% of clinical geneticists considered it their exclusive responsibility, 10% of cardiologists believed that this task could be performed individually by either group and 30% preferred to collaborate. Most professionals said that they would appreciate education programmes and clinical guidelines. Both cardiologists and clinical geneticists prefer to share rather than divide most cardiogenetic responsibilities in caring for HCM patients. Consequently, capacity problems in both groups are to be expected. To safeguard current professional standards in genetic counselling and testing, deployment of non-medical personnel might be essential.

The genetic revolution has spawned 4 distinct issues of universal importance to health care policy and society: genetic privacy, regulation and standardization of genetic tests, gene patenting, and education. Adequate policy advancements for these 4 areas are lacking. Stringent controls must be placed on individual health records to prevent their misuse. Genetic testing within the clinical setting should undergo thorough evaluation before it is implemented. Regulations are needed to prevent the monopolization of DNA sequences. Society and health care professionals must be educated about the scope of genetic testing because current trends indicate that genetic and molecular assessments are destined to become a routine component of health care.

Purposes: (a) to summarize views of the interface of technology, genomic technology, and nursing; (b) provide an overview of current and emerging genomic technologies; (c) present clinical exemplars of uses of genomic technology in two disease conditions; and (d) list genomic-focused nursing research on genomic technologies., Organizing Framework: A discussion of genomic technology in the context of nurses' views of technology, the importance of genomic technology for nurses, linking the central dogma of molecular biology to state-of-the-art tests and assays, and nurses' current use of technologies., Conclusions: Human genome discoveries will continue to be an integral part of disease prevention, diagnosis, treatment, and management. These discoveries also have the potential for being integrated into nursing science. Genomic technologies are becoming a driving force in patient management, so that nurses will be unable to provide quality care without knowledge of the types of genomic technologies, the rationale for their use, and the possible sequelae that can result from genetic diagnosis or treatment. Many nurses already are using genomic technologies to conduct genomic-focused nursing research. The biobehavioral nature of much of this research further indicates the important contributions of nurses in genomics.

Purpose: To increase nurses' genetics and genomics literacy through a series of articles focused on genomic research discoveries and their importance for nursing education, practice, policy, and research., Organizing Framework: "Genomics for Health " is one of three themes, along with genomes to biology and genomes to society, emanating from applications of the Human Genome Project (HGP)., Methods: In this series of articles, nurse scientists who are experts in genetics and genomics sciences explain terminology, provide background information about the HGP, discuss clinical examples, and recommend changes in nursing practice, education, and research., Conclusions: The HGP has already led to major changes in clinical practice, research, education, and policy, and even more dramatic changes are predicted for people throughout the world. Mastering this information is necessary for nurses globally because genomic information will ultimately pervade all of health care.

With developments in genomics, there is an urgent need for Canadian nurses in all settings to be informed and involved in the incorporation of this new knowledge into healthcare. The purpose of this paper was to synthesize the literature on genetic nursing roles to provide a foundation for Canadian nursing leaders as they take on the challenges of nursing in the genomic era. A comprehensive review of 98 articles published between 1994 and 2004 revealed strong support for genetic nursing roles and recommendations for levels of genetic nursing practice. The few studies on genetic nursing roles suggested that nurses and other health professionals support the integration of genomics into nursing practice. Issues that need to be addressed related to nursing practice, education and research are offered to engage nursing leaders in advocating for the incorporation of genomics into nursing in Canada.

Purpose: This article is part of the series regarding genomics and nursing practice, science, education, and policy. Issues in genetic testing, genetic information and the lessons learned through applications of genetic and genomic science are analyzed and discussed., Framework: Scientists, scholars, and members of the public have articulated a vision to guide genomics research and scholarship. The three overarching themes of this conceptual framework are genomes to biology, genomes to health, and genomes to society., Conclusions: Nurses can promote the use of genomic research technologies and information in the context of health, biology, and society, as well as in nursing research, practice, education, and policy.