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Mercy Y Laurino,
Robin L Bennett,
Devki S Saraiya,
Lisa Baumeister,
Debra Lochner Doyle,
Kathleen Leppig, Barbara Pettersen,
Robert Resta,
Larry Shields,
Stefanie Uhrich,
Elizabeth A Varga,
Wendy H Raskind
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ABSTRACT: 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.
Journal of Genetic Counseling 07/2005; 14(3):165-81. · 1.77 Impact Factor
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ABSTRACT: 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 provider's professional judgment based on the clinical circumstances of a particular client.
Journal of Genetic Counseling 03/2005; 14(1):1-15. · 1.77 Impact Factor
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Angela Trepanier,
Mary Ahrens,
Wendy McKinnon,
June Peters,
Jill Stopfer,
Sherry Campbell Grumet,
Susan Manley,
Julie O Culver,
Ronald Acton,
Joy Larsen-Haidle, [......],
Robin Bennett, Barbara Pettersen,
Terri Diamond Ferlita,
Josephine Wagner Costalas,
Katherine Hunt,
Susan Donlon,
Cecile Skrzynia,
Carolyn Farrell,
Faith Callif-Daley,
Catherine Walsh Vockley
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ABSTRACT: 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.
Journal of Genetic Counseling 05/2004; 13(2):83-114. · 1.77 Impact Factor
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Angela Trepanier,
Mary Ahrens,
Wendy McKinnon,
June Peters,
Jill Stopfer,
SherryCampbell Grumet,
Susan Manley,
Julie O. Culver,
Ronald Acton,
Joy Larsen-Haidle, [......],
Robin Bennett, Barbara Pettersen,
TerriDiamond Ferlita,
JosephineWagner Costalas,
Katherine Hunt,
Susan Donlon,
Cecile Skrzynia,
Carolyn Farrell,
Faith Callif-Daley,
CatherineWalsh Vockley
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ABSTRACT: 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 extensivereview 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 provid 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.
Journal of Genetic Counseling 03/2004; 13(2):83-114. · 1.77 Impact Factor
