RESUMO
PURPOSE: Genetic risk assessment and counseling by a qualified genetics professional are recommended to ensure high-quality care for individuals at risk of hereditary cancer. Timely access to genetic services provided by a genetic counselor (GC) is essential, especially in cases where genetic testing results may affect impending surgical decisions. METHODS: A survey of GCs who specialize in cancer genetics was performed to assess service delivery models and ability to accommodate urgent cases. RESULTS: Over half of all respondents indicated that urgent patients can be seen for consultation the same day or within 1-2 business days, and almost all respondents indicated that urgent cases can be seen within 1 week. Most respondents indicated that urgent cases are seen by a GC only with no physician involved. CONCLUSIONS: The results of this survey of GCs demonstrate that timely access to cancer genetic counseling by GCs in an urgent setting is available.Genet Med 18 4, 410-412.
Assuntos
Aconselhamento Genético , Acessibilidade aos Serviços de Saúde , Neoplasias/genética , Atenção à Saúde , Aconselhamento Genético/métodos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Medição de Risco , Inquéritos e Questionários , Fatores de TempoRESUMO
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.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/genética , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos , Sociedades Médicas , Proteínas Adaptadoras de Transdução de Sinal/genética , Adenosina Trifosfatases/genética , Antígenos de Neoplasias/genética , Pareamento Incorreto de Bases , Moléculas de Adesão Celular/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Metilação de DNA , Reparo do DNA , Enzimas Reparadoras do DNA/genética , Proteínas de Ligação a DNA/genética , Molécula de Adesão da Célula Epitelial , Humanos , Imuno-Histoquímica , Instabilidade de Microssatélites , Endonuclease PMS2 de Reparo de Erro de Pareamento , Proteína 1 Homóloga a MutL , Proteínas Nucleares/genética , Proteínas Proto-Oncogênicas B-raf/genéticaRESUMO
Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Aconselhamento Genético , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Neoplasias Colorretais Hereditárias sem Polipose/psicologia , HumanosRESUMO
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.
