共查询到20条相似文献,搜索用时 31 毫秒
1.
In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system
of pedigree nomenclature. Recently, the PSTF (now called the Pedigree Standardization Work Group or PSWG) sought evidence
that the published symbols met the needs of health professionals, were incorporated into health professional training and
were utilized in publications. We searched PubMed and reference lists of select publications, reviewed the Instructions for
Authors of several journals, searched the websites of professional societies, sought comment from the membership of the NSGC,
and looked at recommendations and training practices of various health professional organizations. Many journals still do
not cite specific standards for pedigrees, but those found cited the PSTF nomenclature. We did not find significant objections
or alternatives to the 1995 nomenclature. Based on our review, we propose only a few minor stylistic changes to the pedigree
symbols. The pedigree nomenclature of the NSGC is the only consistently acknowledged standard for drawing a family health
history. We recommend regular and continued review of these pedigree standards to determine if additional symbols are needed
to accommodate changes in clinical practice to ensure that the symbols continue to meet the needs of health professionals
and researchers as well as adhere to evolving ethical and privacy standards. All health professionals, trainees, and researchers
should be made aware of the utility of using a common pedigree nomenclature in clinical practice and publication. This will
become particularly important as electronic medical records become more widely utilized. 相似文献
2.
R. L. Bennett MS K. A. Steinhaus S. B. Uhrich C. O'Sullivan 《Journal of genetic counseling》1993,2(4):261-273
To assess the variation in usage of symbols used in recording a genetic family history, full members of the National Society of Genetic Counselors were surveyed by questionnaire. The questionnaire return rate was 55.3% and genetic counselors from a broad range of clinical experience, genetic counseling training programs and geographic regions responded. There was striking variation in symbols used for recording routine medical information in a genetic family history (i.e., pregnancy, spontaneous abortion, termination of pregnancy). There was even less consensus in recording situations representing new reproductive technologies (i.e., artificial insemination by donor semen, donor ovum, surrogate motherhood). The results of this survey document the need for developing standardized nomenclature in recording genetic family histories as a quality assurance measure in the delivery of genetic services. Such standardization will reduce the chance of incorrect interpretation of patient and family medical and genetic information. 相似文献
3.
Robin L. Bennett Arno G. Motulsky Alan Bittles Louanne Hudgins Stefanie Uhrich Debra Lochner Doyle Kerry Silvey C. Ronald Scott Edith Cheng Barbara McGillivray Robert D. Steiner Debra Olson 《Journal of genetic counseling》2002,11(2):97-119
The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations. 相似文献
4.
Delores C. S. James Lee A. Crandall Barbara A. Rienzo Ralph W. Trottier 《Journal of genetic counseling》1995,4(1):49-63
An unprecedented increase has occurred in demand for genetic counseling services during the current decade. This study examined the complex issue of who currently provides genetic counseling services and the professional preparation of these personnel. A self-administered questionnaire was mailed to 325 genetic counseling professionals in the southeastern United States who were members of the Southeast Regional Genetics Group (SERGG), National Society of Genetic Counselors, or American Society of Human Genetics States; 204 completed the questionnaire (63%). Seventy percent of respondents were female and 30% were male. Thirty percent of respondents held MD degrees; nine physicians held PhD degrees. Most physicians were male. Thirty-two percent of respondents held master's degrees in genetic counseling; five counselors held PhD degrees. Twenty-three percent of respondents were nurses; eight nurses held master's degrees. Three percent of respondents were social workers. Individuals with other degrees, such as an associate of science in medical technology and a doctoral degree in education, also provided genetic counseling. Genetic counseling typically involved a team effort, consisting mainly of physicians and genetic counselors. Most respondents reported college coursework in human genetics, supervised training, and seminar/workshop training. Thirty percent reported college coursework in counseling techniques, supervised training, and seminar/workshop training. Policy recommendations are offered concerning professional preparation of genetic counselors. 相似文献
5.
C. Cordier N. Taris A. De Pauw H. Sobol N. Philip M.-A. Voelckel 《Journal of genetic counseling》2013,22(6):844-848
The profession of genetic counseling in France was recognized in 2004, based on the recommendations of a mandate commissioned by the Health Minister to explore the medical demographics of France. The report predicted a shortage of health professionals in the field of genetics, particularly in light of the rapid development of molecular testing. Development of the profession was supported by a legal framework, and today 107 genetic counselors have graduated from the specific educational program which awards the Professional Master’s Degree of Human Pathology, entitled Master in Genetic Counseling and Predictive Medicine. Here we will trace the development of the profession in France and review the demographic characteristics of the students and genetic counselors practicing the profession today. 相似文献
6.
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors 总被引:3,自引:0,他引:3
Bennett RL Hart KA O'Rourke E Barranger JA Johnson J MacDermot KD Pastores GM Steiner RD Thadhani R 《Journal of genetic counseling》2002,11(2):121-146
The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations. 相似文献
7.
Weissman SM Burt R Church J Erdman S Hampel H Holter S Jasperson K Kalady MF Haidle JL Lynch HT Palaniappan S Wise PE Senter L 《Journal of genetic counseling》2012,21(4):484-493
Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS. 相似文献
8.
Lacombe D 《Journal international de bioéthique》2012,23(2):95-102, 178-9
9.
Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors 总被引:4,自引:0,他引:4
Trepanier A Ahrens M McKinnon W Peters J Stopfer J Grumet SC Manley S Culver JO Acton R Larsen-Haidle J Correia LA Bennett R Pettersen B Ferlita TD Costalas JW Hunt K Donlon S Skrzynia C Farrell C Callif-Daley F Vockley CW;National Society of Genetic Counselors 《Journal of genetic counseling》2004,13(2):83-114
These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client. 相似文献
10.
Genetic issues are demanding more attention in the area of public health. Adoption agencies and policymakers are beginning to address these issues where they relate to the adoption process and to the many families involved in adoption in this country. Genetic counselors need to play an active role as both educators of and consultants for adoption professionals and the families with whom they work. To facilitate a partnership between genetics and adoption we have developed a workshop intended to educate adoption professionals about the lifelong implications of genetic conditions on the adoption triad. 相似文献
11.
Berliner JL Fay AM;Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group 《Journal of genetic counseling》2007,16(3):241-260
These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying
at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic
susceptibility testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic
Counselors’ Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived
from extensive review of the current literature on cancer genetic risk assessment as well as the professional expertise of
genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer.
Critical components of the process include the ascertainment of medical and family histories, determination and communication
of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for
HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not
dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional
judgment of a health care provider based on the clinical situation of a client. 相似文献
12.
Nathalie McIntosh Louise W. Gane Allyn McConkie-Rosell Robin L. Bennett 《Journal of genetic counseling》2000,9(4):303-325
The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client. 相似文献
13.
The Preconceptional Family Health Evaluation Program was a regional project developed and funded for 2 years by the New England Regional Genetics Group (NERGG) to educate family planning health professionals about genetics, and to offer family planning clients preconceptional identification of genetic and environmental exposure risks. To meet these goals, genetic education was provided on a regional basis to 45 family planning professionals. A self-administered family health risk questionnaire adaptable to individual family planning settings was developed. Five hundred and twenty-nine family planning clients voluntarily completed the questionnaire. Cigarette smoking (35%) and alcohol use (57%) were two major categories of risks identified. The Preconceptional Family Health Evaluation Program was well received by all participants and provided an effective means for regional education of family planning health professionals. As a result of the program, state program planners, clinical genetics services, and family planning health professionals developed a strong relationship that will serve future educational and genetic risk screening efforts. 相似文献
14.
Meghan G. Lundy Andrea Forman Kathleen Valverde Lisa Kessler 《Journal of genetic counseling》2014,23(4):618-632
Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group’s Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing. 相似文献
15.
A conference of genetic counseling and clinical nurse specialist graduate program directors was hosted by the National Society of Genetic Counselors and funded by the Ethical, Legal, and Social Implications Program of the National Center for Human Genome Research in June 1992. One aspect of the conference addressed implications of the Human Genome Initiative for graduate education in genetic counseling. Within this paper, the topics of human variation and diversity, genetic discrimination, issues in non-directiveness, and genetic screening and policy development are reviewed and recommendations made for graduate curricula development and enhancement. In addition, suggestions are included for practicing genetic counselors. 相似文献
16.
Dawn A. Laney Robin L. Bennett Virginia Clarke Angela Fox Robert J. Hopkin Jack Johnson Erin O’Rourke Katherine Sims Gerald Walter 《Journal of genetic counseling》2013,22(5):555-564
Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy. The purpose of this document is to provide health care professionals with guidelines for testing, care coordination, identification of psychosocial issues, and to facilitate a better understanding of disease treatment expert recommendations for patients with Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as representatives/founders of the two United States based Fabry disease patient advocacy groups who are themselves affected by Fabry disease. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing, interpretation of results, psychosocial considerations, and references to professional and patient resources. 相似文献
17.
Cole-Turner R 《Journal of religion and health》1992,31(2):161-173
The study of human genetics, now greatly accelerated by the federal Human Genome Project, raises important religious questions about human health, two of which are explored. To the first question—whether to terminate a pregnancy for genetic reasons—it is suggested that a pregnancy with a serious genetic defect may be considered at the same level of moral gravity as pregnancy from rape or incest, thereby permitting termination. To the second question—whether genetic predispositions negate personal responsibility—it is argued that genes affect but do not determine personality and behavior.The author wishes to thank Ian Barbour, Gene Fowler, Olivia White, Ted Peters, Brent Waters, and Russell Willis for many helpful criticisms of an earlier draft of this article. Appreciation is also expressed to Memphis Theological Seminary for granting a study leave during which this article was written. 相似文献
18.
Riley BD Culver JO Skrzynia C Senter LA Peters JA Costalas JW Callif-Daley F Grumet SC Hunt KS Nagy RS McKinnon WC Petrucelli NM Bennett RL Trepanier AM 《Journal of genetic counseling》2012,21(2):151-161
Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client. 相似文献
19.
Robin L. Bennett Barbara J. Pettersen Kristin B. Niendorf Rebecca Rae Anderson 《Journal of genetic counseling》2003,12(4):287-295
The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC. 相似文献
20.
Advances in genetics and genetic testing promise to catalyze a fundamental change in the practice of medicine. Psychologists have much to offer as psychotherapists, researchers, educators, and policymakers to a society heavily influenced by the genetic revolution. To make the most of new opportunities available to mental health professionals in genetics, psychologists must know basic genetic principles and learn what is new about 21st-century genetics. The core competencies for all health professionals developed by the National Coalition for Health Professional Education in Genetics are related in this article to the significant roles psychologists can play in helping individuals with genetic concerns to cope with vulnerability, optimize family interaction, and improve health behaviors. 相似文献