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1.
McConkie-Rosell A Finucane B Cronister A Abrams L Bennett RL Pettersen BJ 《Journal of genetic counseling》2005,14(4):249-270
These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families
with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published
in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a
continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular
genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated
tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning
options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions
of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are
based on clinical experience, review of pertinent English language 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. 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
2.
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
3.
Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors 总被引:1,自引:0,他引:1
Laurino MY Bennett RL Saraiya DS Baumeister L Doyle DL Leppig K Pettersen B Resta R Shields L Uhrich S Varga EA Raskind WH 《Journal of genetic counseling》2005,14(3):165-181
The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations. 相似文献
4.
Radtke HB Sebold CD Allison C Haidle JL Schneider G 《Journal of genetic counseling》2007,16(4):387-407
The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing
evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. These recommendations are the opinions
of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1. These recommendations
are based on the committee’s clinical experiences, a review of pertinent English language medical articles, and reports of
expert committees. These recommendations are not intended to dictate an exclusive course of management, nor does the 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 an individual patient.
Both Heather B. Radtke and Courtney D. Sebold contributed equally to this document. 相似文献
5.
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
6.
Robin L. Bennett 《Journal of genetic counseling》2003,12(2):97-107
Presented as the annual education conference of the National Society of Genetic Counselors in Phoenix, Arizona on November 11, 2002. 相似文献
7.
National Society of Genetic Counselors 《Journal of genetic counseling》2006,15(5):309-311
This document is the revised Code of Ethics of the National Society of Genetic Counselors that was adopted in January 2006 after majority vote of the full members of the NSGC. The explication of the revisions is published in this volume of the Journal of Genetic Counseling. This is the third revision to the Code of Ethics since its original adoption in 1992. 相似文献
8.
R. L. Bennett N. Callanan E. Gordon L. Karns K. H. Mooney R. Ruzicka S. Schmerler S. Weissman 《Journal of genetic counseling》2006,15(5):313-323
The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992. In 2004, the NSGC leadership appointed the Code of Ethics Work Group (COEWG) to consider revisions to the NSGC COE based on advice from the NSGC legal counsel, and to consider additional changes given growth in the scope of genetic counseling practice since the adoption of the original COE. After input from the NSGC membership, changes to the COE addressing the recommendations of the NSGC legal counsel were approved in December 2004. The COEWG then reviewed ethical codes and codes of professional conduct from 22 professional organizations, deemed to have similar goals and philosophies to the NSGC, searching for themes that encompassed genetic counseling practice that might not yet be addressed in the NSGC COE. Additional revisions to the COE were proposed, and after feedback from the NSGC membership, the revised COE was approved in January 2006 by majority vote of full members of the NSGC. The explications for the 2004 and 2006 revisions are presented. 相似文献
9.
Langfelder-Schwind E Kloza E Sugarman E Pettersen B Brown T Jensen K Marcus S Redman J;National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing 《Journal of genetic counseling》2005,14(1):1-15
For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client. 相似文献
10.
McIntosh N Braddock BR Branda KJ Eanet K Goldberg S Kieffer SA Primiano L Quercia N Taylor KA Tsipis J Yashar BM Yesley A;National Society of Genetic Counselors DNA Sequence Patenting Position Paper Working Group 《Journal of genetic counseling》2002,11(4):241-243
In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA-based genetic tests and therapies (our patients and their families) and participants in DNA-based genetic research. After review and discussion of the literature on DNA-sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA-sequence patents; nonenforcement of DNA-sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA-sequence patents; and the establishment of oversight organizations to monitor licensing of DNA-sequence patents. These position statements were approved by the NSGC Board of Directors in the fall of 2001. 相似文献
11.
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
12.
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
13.
McConkie-Rosell A Abrams L Finucane B Cronister A Gane LW Coffey SM Sherman S Nelson LM Berry-Kravis E Hessl D Chiu S Street N Vatave A Hagerman RJ 《Journal of genetic counseling》2007,16(5):593-606
The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment
Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at
Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of
this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders
associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both
the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus
group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome
(FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological
issues; and (4) population screening and related ethical issues. 相似文献
14.
Kathi Marymee Cynthia R. Dolan Roberta A. Pagon Robin L. Bennett Sandra Coe Nancy L. Fisher 《Journal of genetic counseling》1998,7(2):133-165
We present a method for the development of consensus documents describing the components of genetic evaluation and genetic counseling for various diagnoses. These documents were developed to encourage consistency among genetic professionals in Washington State. Other possible uses of these documents are to provide information regarding genetic evaluations for health care practitioners and payers, and to assist in quality assurance and genetic training programs. A working group of six genetic professionals developed two templates for the critical elements of genetic evaluation and genetic counseling, for clinical (nonprenatal) and prenatal patients. The working group then completed prototype templates for several specific genetic disorders. The templates and prototypes were sent to interested genetic professionals and perinatologists who submitted a total of 76 draft critical elements (CE's) to the working group. At two statewide meetings, participating practitioners modified and unanimously approved the CE templates, then unanimously approved the 21 draft CEs that had been finalized in small group discussions. Approved CE's were distributed to genetic professionals and perinatologists within the state. 相似文献
15.
National Society of Genetic Counselors' Definition Task Force Resta R Biesecker BB Bennett RL Blum S Hahn SE Strecker MN Williams JL 《Journal of genetic counseling》2006,15(2):77-83
The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors:
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:
•Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
•Education about inheritance, testing, management, prevention, resources and research.
•Counseling to promote informed choices and adaptation to the risk or condition.
The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups. 相似文献
16.
Richard S. Lafans Patricia McCarthy Veach Bonnie S. LeRoy 《Journal of genetic counseling》2003,12(3):219-242
Limited research exists concerning male partners' participation in prenatal genetic counseling (R. Kenen, A. C. M. Smith, C. Watkins, & C. Zuber-Pitore, J. Genet Corns 9, 33–45, 2000). To further understand paternal participation, we interviewed 17 experienced prenatal genetic counselors to assess their perspectives on this issue. We investigated 6 research questions: 1) How do genetic counselors define paternal involvement, 2) how do they determine and address problematic involvement, 3) what factors influence involvement, 4) was paternal involvement addressed in training, 5) how might training be improved, and 6) how do participant strategies for addressing involvement compare to those of marriage/family therapists? Qualitative analysis revealed that 1) participants regard paternal involvement asimportant; 2) most address problematic involvement with strategies similar to those of marital/family therapists; 3) influential factors include male partner's characteristics, the couple's relationship (including culturalpractices), and pregnancy factors; and 4) participants received little or notraining on paternal involvement and recommended didactic and experientialactivities. Implications and research recommendations are presented. 相似文献
17.
Callanan N 《Journal of genetic counseling》2006,15(2):73-75
This Presidential Address was given at the annual education conference of the National Society of Genetic Counselors in Los Angeles, California, USA on November 14, 2005 相似文献
18.
Bernard LE McGillivray B Van Allen MI Friedman JM Langlois S 《Journal of genetic counseling》1999,8(1):3-15
DNA testing for Fragile X syndrome is now routinely available through a large number of diagnostic laboratories. We have surveyed individuals from British Columbia Fragile X families identified prior to the availability of DNA testing for FMR1 to determine if they are subsequently receiving information about DNA testing. Of the 78 individuals first seen before the cloning of the FMR1 gene, 39 (50%) had not been seen in the clinic to discuss DNA testing. We initiated a contact program with these 39 patients to determine their interest in DNA testing. Contact was made with 28 individuals, 20 of whom stated interest in testing either for themselves or for a relative. Patient opinions about DNA testing were assessed through questionnaires. In those individuals who stated an interest in DNA testing, the most common reason for wishing testing was to provide information to children or grandchildren. The most common disadvantages of testing indicated by this group were that they had finished their families and that they felt the test would not have a direct impact. The most common reasons individuals were not interested in DNA testing were that there were no family members appropriate to test and that the respondent had completed his or her family. DNA testing has been performed for 13 of the 28 (46%) contacted individuals and/or at least one relative. In view of the high level of interest for testing in families who had not been seen since the cloning of the FMR1 gene, we feel that FMR1 screening programs should include actively contacting previously seen individuals. 相似文献
19.
Benkendorf JL Callanan NP Grobstein R Schmerler S FitzGerald KT 《Journal of genetic counseling》1992,1(1):31-39
This article reviews the work carried out by the NSGC ad hoc Committee on Ethical Codes and Principles between 1986 and 1991 and serves as a guide for interpreting the NSGC Code of Ethics. The NSGC Code of Ethics is written from the ethic of care perspective. It is based on the responsibilities that arise from the four primary relationships genetic counselors experience in their work: genetic counselors and themselves, their clients, their colleagues, and society. The values selected for each relationship and the resultant guidelines are explained. The Code of Ethics became effective January 1, 1992. 相似文献
20.
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