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1.
Conn Med ; 74(7): 413-23, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20806621

RESUMO

UNLABELLED: Advances in genetics have prompted recommendations that all healthcare providers perform genetic counseling and testing. Some experts are concerned about potential negative outcomes from cancer genetic testing performed without genetic counseling by certified genetics professionals. We report a national series of cases illustrating negative outcomes of cancer genetic testing performed without counseling by a qualified provider. Three major patterns emerged from analysis of these cases: 1) Wrong genetic test ordered, 2) Genetic test results misinterpreted, and 3) Inadequate genetic counseling. Negative outcomes included unnecessary prophylactic surgeries, unnecessary testing, psychosocial distress, and false reassurance resulting in inappropriate medical management. CONCLUSION: With the complexities of cancer genetic counseling and testing, it may be unrealistic to expect all clinicians to provide these services. A more realistic approach is better provider education and a framework in which healthcare providers identify patients who would benefit from a referral to a certified genetic counselor or experienced cancer genetics professional.


Assuntos
Erros de Diagnóstico , Genes Neoplásicos/genética , Aconselhamento Genético/normas , Testes Genéticos/normas , Feminino , Humanos , Masculino
2.
Surg Oncol Clin N Am ; 18(1): 53-71, viii, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19056042

RESUMO

Screening for genetic abnormalities is a relatively complex task requiring detailed training and knowledge. Analysis of a person's genetic makeup has implications not only for that individual but also for their progenitors, offspring, siblings, and spouses. There are potential insurance, employment, and other risks regarding disclosure of this information. With proper training, surgeons or nurses with advanced skills can be qualified to conduct this type of initial analysis. Geneticists may be the ideal professionals to counsel patients. In this article, we explore these and other issues. The goal is to provide the surgeon with the information needed to identify patients at risk for carrying identifiable mutations that might lead to the development of breast cancer.


Assuntos
Neoplasias da Mama/genética , Síndromes Neoplásicas Hereditárias/diagnóstico , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico , Família , Feminino , Aconselhamento Genético , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Cobertura do Seguro , Fatores de Risco , Cônjuges
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