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Eur J Hum Genet ; 27(8): 1168-1174, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30923334

RESUMO

Specialists of human genetic diagnostics can be divided into four groups: Medical Geneticists (MDG), Genetic Nurses and/or Counsellors (GN/GC), Clinical Laboratory Geneticists (CLG) and Laboratory Genetics Technicians (LGT). While the first two groups are in direct patient contact, the work of the latter two, of equal importance for patient care, are often hidden as they work behind the scenes. Herein the first study on the rights and duties of CLGs is presented. We present the results of a survey performed in 35 European and 18 non-European countries with 100 participating specialists. A national CLG title is available in 60% of European countries, and in 77% of the surveyed European countries a CLG can be the main responsible head of the laboratory performing human genetic tests. However, in only 20% of European countries is a lab-report valid with only a CLGs' signature - even though the report is almost always formulated by the CLG, and an interpretation of the obtained results in a clinical context by the CLG is expected in nearly 90% of European countries. Interestingly, CLGs see patients in 30% of European countries, and are also regularly involved in student education. Overall, the CLG profession includes numerous duties, which are quite similar in all regions of the world. Strikingly, the CLG's rights and responsibilities of leading a lab, or signing a report are regulated differently according to country specific regulations. Overall, the CLG is a well-recognized profession worldwide and often working within a multidisciplinary team of human genetic diagnostics professionals.


Assuntos
Serviços de Laboratório Clínico/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Genética Humana/estatística & dados numéricos , Inquéritos e Questionários , Serviços de Laboratório Clínico/normas , Aconselhamento/métodos , Aconselhamento/normas , Aconselhamento/estatística & dados numéricos , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/métodos , Testes Genéticos/normas , Genética Médica/métodos , Genética Médica/normas , Genética Médica/estatística & dados numéricos , Genética Humana/métodos , Genética Humana/normas , Humanos , Pessoal de Laboratório Médico/normas , Pessoal de Laboratório Médico/estatística & dados numéricos , Recursos Humanos de Enfermagem/normas , Recursos Humanos de Enfermagem/estatística & dados numéricos , Médicos/normas , Médicos/estatística & dados numéricos
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