National Guideline Clearinghouse | Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
National Society of Genetic Counselors
March 10, 2014
Guideline Title
Molecular
testing for cystic fibrosis carrier status practice guidelines:
recommendations of the National Society of Genetic Counselors.
testing for cystic fibrosis carrier status practice guidelines:
recommendations of the National Society of Genetic Counselors.
Bibliographic Source(s)
| Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014 Feb;23(1):5-15. [74 references] PubMed  |
Guideline Status
This is the current release of the guideline.
This guideline updates a previous version: Langfelder-Schwind E,
Kloza E, Sugarman E, Pettersen B, Brown T, Jensen K, Marcus S, Redman J.
Cystic fibrosis prenatal screening in genetic counseling practice:
recommendations of the National Society of Genetic Counselors. J Genet
Couns. 2005 Feb;14(1):1-15.
Molecular
provide practice recommendations for genetic counselors whose clients
are considering cystic fibrosis (CF) carrier testing or seeking
information regarding CF molecular test results. The goals of these
recommendations are to: 1) Provide updated information about the natural
history, diagnosis, and treatment of CF and related conditions. 2)
Supplement genetic counselors' knowledge and understanding of the
available carrier screening and diagnostic testing options. 3) Describe
the current state of genotype/phenotype correlations for CFTR mutations
and an approach to interpreting both novel and previously described
variants. 4) Provide a framework for genetic counselors to assist
clients' decision-making regarding CF carrier testing, prenatal
diagnosis, and pregnancy management. Disclaimer The practice guidelines
of the National Society of Genetic Counselors (NSGC) are developed by
members of the NSGC to assist genetic counselors and other health care
providers in making decisions about appropriate management of genetic
concerns; including access to and/or delivery of services. Each practice
guideline focuses on a clinical or practice-based issue, and is the
result of a review and analysis of current professional literature
believed to be reliable. As such, information and recommendations within
the NSGC practice guidelines reflect the current scientific and
clinical knowledge at the time of publication, are only current as of
their publication date, and are subject to change without notice as
advances emerge.In addition, variations in practice, which take into
account the needs of the individual patient and the resources and
limitations unique to the institution or type of practice, may warrant
approaches, treatments and/or procedures that differ from the
recommendations outlined in this guideline. Therefore, these
recommendations should not be construed as dictating an exclusive course
of management, nor does the use of such recommendations guarantee a
particular outcome. Genetic counseling practice guidelines are never
intended to displace a health care provider's best medical judgment
based on the clinical circumstances of a particular patient or patient
population.Practice guidelines are published by NSGC for educational and
informational purposes only, and NSGC does not "approve" or "endorse"
any specific methods, practices, or sources of information.
This guideline updates a previous version: Langfelder-Schwind E,
Kloza E, Sugarman E, Pettersen B, Brown T, Jensen K, Marcus S, Redman J.
Cystic fibrosis prenatal screening in genetic counseling practice:
recommendations of the National Society of Genetic Counselors. J Genet
Couns. 2005 Feb;14(1):1-15.
J Genet Couns. 2014 Feb;23(1):5-15. doi: 10.1007/s10897-013-9636-9. Epub 2013 Sep 7.
Molecular
testing for cystic fibrosis carrier status practice guidelines:
recommendations of the national society of genetic counselors.
Langfelder-Schwind E1, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R.
Abstract
PURPOSE:
Toprovide practice recommendations for genetic counselors whose clients
are considering cystic fibrosis (CF) carrier testing or seeking
information regarding CF molecular test results. The goals of these
recommendations are to: 1) Provide updated information about the natural
history, diagnosis, and treatment of CF and related conditions. 2)
Supplement genetic counselors' knowledge and understanding of the
available carrier screening and diagnostic testing options. 3) Describe
the current state of genotype/phenotype correlations for CFTR mutations
and an approach to interpreting both novel and previously described
variants. 4) Provide a framework for genetic counselors to assist
clients' decision-making regarding CF carrier testing, prenatal
diagnosis, and pregnancy management. Disclaimer The practice guidelines
of the National Society of Genetic Counselors (NSGC) are developed by
members of the NSGC to assist genetic counselors and other health care
providers in making decisions about appropriate management of genetic
concerns; including access to and/or delivery of services. Each practice
guideline focuses on a clinical or practice-based issue, and is the
result of a review and analysis of current professional literature
believed to be reliable. As such, information and recommendations within
the NSGC practice guidelines reflect the current scientific and
clinical knowledge at the time of publication, are only current as of
their publication date, and are subject to change without notice as
advances emerge.In addition, variations in practice, which take into
account the needs of the individual patient and the resources and
limitations unique to the institution or type of practice, may warrant
approaches, treatments and/or procedures that differ from the
recommendations outlined in this guideline. Therefore, these
recommendations should not be construed as dictating an exclusive course
of management, nor does the use of such recommendations guarantee a
particular outcome. Genetic counseling practice guidelines are never
intended to displace a health care provider's best medical judgment
based on the clinical circumstances of a particular patient or patient
population.Practice guidelines are published by NSGC for educational and
informational purposes only, and NSGC does not "approve" or "endorse"
any specific methods, practices, or sources of information.
- PMID:
- 24014130
- [PubMed - in process]
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