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Genetics Services (genetics + services)
Kinds of Genetics Services Selected AbstractsInnovations in United States genetics nursing: Practice and researchJAPAN JOURNAL OF NURSING SCIENCE, Issue 2 2005Dale H. LEA Abstract Aim:, Clinical and research applications from human genome discoveries are growing and creating both opportunities and challenges to the integration of genetic concepts into practice and research. Nurses have a long history of caring for individuals, families, and groups with genetic conditions. In the past two decades, a small group of nurses in the USA have used a variety of strategies to further develop the field of genetics nursing. In this paper we identify innovative approaches to identifying genetics-related nursing roles and opportunities, as well as successful collaborative efforts beyond nursing to address the emerging health and societal challenges related to human genetics discoveries. Methods:, The information presented here comes from a variety of sources where the authors or genetics nurses directly participated, including: (i) a systematic literature review of genetics nursing; (ii) a comprehensive research study of models of delivering clinical genetics services and the roles of health professionals; and (iii) participation in numerous national research, planning, programmatic, and advisory groups involved with clinical genetics-related health services, research, education, and public policy. Results:, Genetics nurses in the US have developed innovative responses to genetics-related challenges within and beyond the profession of nursing. These include: (i) establishing an organization for nurses in genetics and gaining formal recognition of genetics as a specialty of nursing; (ii) defining the scope of genetics nursing practice and developing a new genetics nursing credential; (iii) establishing a multiprofessional genetics education coalition and defining genetic competency for health-care practice; (iv) creating new clinical practice roles for nurses that integrate emerging genetics concepts and skills into diverse clinical practice areas; (v) expanding nursing involvement in genetics-related research; and (vi) participation in high-level genetics advisory groups. Conclusions:, The US experience shows that nurses have made substantial progress in expanding their involvement in genetic services through visionary leadership, innovative approaches to challenges, establishing support with nurse colleagues, and engaging in multiprofessional efforts. The most important first step is developing a supportive environment for nurse advancement. In the US, the genetics nurses' organization known as the International Society of Nurses in Genetics (ISONG) has provided this base. [source] Parents of Children with Intellectual Disabilities: Their Expectations and Experience of Genetic CounsellingJOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 3 2003Owen Barr Background, Following the birth of a child, parents and other family members have to adapt to their new circumstances. This process takes time and can become more complex when the child is suspected or diagnosed as having intellectual disabilities. When a child has a disability, parents often seek answers as to the origin and nature of the condition as part of the adaptation process. For some parents, this will result in genetic investigations and could lead to the provision of personal genetics about the child and parents. Materials and methods, This paper reports a mixed-method project that combined questionnaires prior to and interviews after an appointment with a geneticist. The project sought to identify the expectations and experience of parents who had a child referred to specialist genetics services. Results and conclusions, The findings identify that parents felt largely unprepared for their appointment and reported feelings of failing to maximize the opportunity present. The need for more effective liaison between specialist regional and local primary care and learning disability services is also highlighted. Parents made practical suggestions relevant to all the above services about how they could be better supported at this difficult stage in the adaptation process. [source] Feasibility and Acceptability of Providing Nurse Counsellor Genetics Clinics in Primary CareNURSING & HEALTH SCIENCES, Issue 2 2006Greta Westwood Increasing referrals to specialist genetics services have precipitated a review of models of service delivery in the United Kingdom. Little is known about whether a change in clinic location is feasible or acceptable for the patients seen. We consider the feasibility of genetics service development and delivery in primary care and develop a questionnaire to evaluate acceptability and cost to patients. Between July 2003 and May 2004, 64 primary care appointments with a genetics nurse counsellor were offered to patients referred and registered with selected general practices. 45 (79%) patients attended their appointment and 34 (77%) returned their follow-up questionnaire. Total mean satisfaction score was high and patients were most satisfied with the information and affective domains of the appointment. 48% of patients seen by the genetics nurse counselor remained in primary care. Patients were satisfied with the travel time and distance to clinic and patient clinic costs were limited. This study shows that patients do attend genetics nurse counselor clinics in primary care, and are satisfied with the new location. A large cluster randomized controlled trial is now being conducted to obtain a controlled comparison of acceptability to patients of attending clinics in primary vs. secondary care settings. [source] Outcomes of genetics services: Creating an inclusive definition and outcomes menu for public health and clinical genetics services,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2009Kerry Silvey Abstract Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools,"Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both tools by an iterative process of combining their ideas with findings from a literature and World Wide Web review. The Defining Genetics Services Framework reflects the diversity of work group members. Three over-lapping areas of genetics services from public health core functions to population screening to clinical genetics services are depicted. The Genetics Services Outcomes Menu lists sample long-term outcomes of genetics services. Menu outcomes are classified under impact areas of Knowledge and Information; Financing; Screening and Identification; Diagnosis, Treatment, and Management; and Population Health. The WSGSC incorporated aspects of both tools into their Regional Genetics Plan. © 2009 Wiley-Liss, Inc. [source] Quality assurance in medical and public health genetics services: A systematic review,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2009Ann F. Chou Abstract As genetic services grow in scope, issues of quality assessment in genetic services are emerging. These efforts are well developed for molecular and cytogenetic testing and laboratories, and newborn screening programs, but assessing quality in clinical services has lagged, perhaps owing to the small work force and the recent evolution from a few large training programs to multiple training sites. We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services, organized into the tripartite categories of the Donabedian model of "structure," "process," and "outcome." MEDLINE searches from 1990 to July 2008, yielded 2,143 articles that addressed both "medical/genetic screening and counseling" and "quality indicators, control, and assurance." Of the 2,143 titles, 131 articles were extracted for in-depth analysis, and 55 were included in this review. Twenty-nine articles focused on structure, 19 on process, and seven on outcomes. Our review underscored the urgent need for a coherent model that will provide health care organizations with tools to assess, report, monitor, and improve quality. The structure, process, and outcomes domains that make up the quality framework provide a comprehensive lens through which to examine quality in medical genetics. © 2009 Wiley-Liss, Inc. [source] Lost in transition: Challenges in the expanding field of adult genetics,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 4 2006Matthew R.G. Taylor Abstract It is increasingly clear that medical genetics has broad relevance in adult clinical medicine. More adult patients with genetic conditions are being recognized, genetic testing for adult-onset genetic conditions is expanding, and children with genetic conditions are now more likely to survive to adulthood. While the number of patients who could benefit from medical genetic services increases, adult care providers are less well educated about clinical genetics and are not sufficiently prepared to meet the growing needs of this population. Genetics professionals may also be ill-suited for this challenge, since geneticists and genetic counselors have traditionally had greater experience in pediatric and prenatal settings. Communication between primary care physicians who treat adults and the genetics community is currently suboptimal and the identification and subsequent referral of adult patients for genetic services need improvement. Finally, published guidelines that address how to deliver genetic services to adult patients are unavailable for many genetic conditions. In this article we address the challenges of transitioning genetics services from traditional, and largely pediatric-based models to paradigms that can best address the needs of adult patients with genetic conditions. Potential solutions and the practicality of implementation of a team-based approach to adult genetic medicine, including the application of genetic counseling, are also discussed. © 2006 Wiley-Liss, Inc. [source] Colonoscopic surveillance and clinical genetics servicesBRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 9 2005J. A. E. Smith Coordinating activities should produce benefit [source] | ||||||||||