1. Acknowledge the importance of genetic diseases and congenital defects in local and national epidemiological contexts. |
2. Learn the terminology and basic concepts used in Medical Genetics. |
3. Know the classic patterns of heritage in families and in communities. |
4. Recognize the importance of genograms when assessing predisposition/susceptibility and genetic disease transmission. |
5. Have basic notions of Morphogenesis and Human Physiology and the role of Genetics in these processes. |
6. Understand how the interactions between Genetic, environmental and behavioral factors act in susceptibility, in the beginning and in the development of diseases, as well as in responses to treatment and health maintenance. |
7. Identify the main teratogenic agents and related preventive measures (especially alcohol and illegal drugs). |
8. Identify the main genetic risk factors – advanced parental age, inbreeding, recurrence in the family. |
9. Know preventive measures related to genetic diseases and congenital defects: folic acid before pregnancy, maternal immunization, healthy life habits. |
10. Recognize that genetic diseases are frequently multi-systemic disorders that need an interdisciplinary and multiprofessional approach. |
11. Know the principles and guidelines of the National Newborn Screening Program. |
12. Know the official and compulsory forms for recording genetic diseases and congenital defects: Statement of Live Birth and Death Certificate. |
13. Know genetic diseases and congenital defects that are not rare, that is, that have prevalence above 1.3:2,000 individuals. |
14. Know the main genetic tests used in clinical practice. |
15. Know the health care service network available at the three levels for individuals with genetic diseases and congenital defects and their families. |
16. Know the duties of geneticist physicians in the acknowledgment and handling of genetic and congenital diseases, with the purpose of making the reference and counter-reference system operational. |
Skills
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1. Gather information about the genetic history of families, including the construction of a genogram for at least three generations. |
2. Recognize the variations in normal phenotypes and their morphological and functional alterations. |
3. Complete reference and counter-reference documents for patients with suspected genetic diseases and congenital defects or with established diagnoses. |
4. Use appropriate communication skills; show awareness of the need for confidentiality and a non-directive approach to patients and their families. |
5. Use available technology properly to obtain updated information about Genetics and Genomics. |
Actions
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1. Respect non-directive and non-coercive genetic counseling. |
2. Take into account cultural and religious beliefs of patients with regard to their genetic heritage when providing care to people with or at risk of developing genetic diseases. |
3. Be sensitive to the importance of and need for privacy and confidentiality. |
4. Show awareness of the importance of the social and psychological impact of a genetic diagnosis on patients and their relatives. |
5. Be able to work in a cooperative and collaborative manner in an interdisciplinary and multiprofessional team. |