Clinical genetics and genetic counseling - impact on daily clinical

Code:

OPT78

Acronym:

GCAGICD

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2020/2021 - 1S

Active?	Yes
Responsible unit:	Departamento de Patologia
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	20	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	4	-	3	28	81

Teaching language

Suitable for English-speaking students

Objectives

To acquire the fundamental knowledge to relate symptoms, phenotypic  characteristics and family history in conditions of genetic diseases.   To prepare students for the relationship with the patient and his family, valuing the genogram, the diagnosis, the heredity, the recurrence rate and the existing pre-natal diagnosis techniques to substantiate the genetic counseling. Study of frequent diseases with high heredability  and apply the diagnosis methodology and screening of the patient and respective family. Recognition of risk groups that should be screened for genetic diseases and procedure. Classification of genetic factors for disease. Knowledge of more frequent genetic diseases in pediatric and adult ages and those of the oncologic group.  Competence to identify clinical conditions with criteria to be referred to a Genetic Consultation.

Learning outcomes and competences

Based on disease study, the program integrates the fundamental knowledge of genetics with the various forms of clinical manifestations of the molecular, chromosomal and multifactorial genetic diseases, the diagnosis and genetic counselling, discussing the genomic oriented medical therapy. Demonstrates the disease susceptibility associated to the genetic inheritance. The applicability of theoretical knowledge will be used during the clinical sessons with contact with patients and families (tutorial clinical consultation).

Working method

Presencial

Pre-requirements (prior knowledge) and co-requirements (common knowledge)

Frequency of 4th or 5th year.

Program

Dismorphology; Genetic diseases of childhood: autosomic and heterosomic chromosomopathies; multifactorial diseases (facial clefts, neural tube malformations, congenital cardiopathy); metabolic syndromes; ; monogenic diseases (cystic fibrosis, congenital deafness). Genetic diseases of adulthood: polycystic kidney disease, Fabry disease, Huntington disease. Portuguese diseases: Gaucher disease, glucose 6 phosphate dehydrogenase deficiency, hemochromatosis, Machado Joseph disease, familial amyloidotic polyneuropathy,  Frequent diseases with hight heredability: diabetes mellitus, hypertension, cardiovascular diseases (stoke, coronary artery disease, miocardial infarction), chronic obstructive pulmonary disease, allergy and other immunological diseases. Oncogenetic: hereditary cancer (hereditary breast and ovary cancer, hereditary colorectal cancer, others forms of hereditary cancer). Genomic oriented medical therapy. Clinical cases discussion and evaluation methodology.

Mandatory literature

Peter Turnpenny, Sian Ellard; Emery's Elements of Medical Genetics , Elsevier, 2014
Jorde, Carey, Bamshad, White; Medical Genetics , Mosby, 2012
Richi Lewis; Human Genetics: Concepts and Applications , McGraw-Hill, 2012

Comments from the literature

Other recent papers and reviews

Teaching methods and learning activities

Lectures and tutorial clinical consultation.

The contents transmitted in lectures and later analyzed and discussed in the clinics allow acquisition of learning objectives; This methodology, complemented by the attendance of Clinical Genetic Consultation, permit s the acquirement and practical training of propone skills. 

Evaluation: Written exam and clinical practice.

keywords

Health sciences > Medical sciences > Medicine > Diagnostics
Health sciences
Health sciences > Medical sciences > Medicine > Clinical medicine

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	80,00
Participação presencial	20,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Estudo autónomo	25,00
Frequência das aulas	31,00
Trabalho de investigação	22,00
Trabalho escrito	3,00
Total:	81,00

Eligibility for exams

Frequency of 75% of the practical classes

Calculation formula of final grade

Final exam, multiple choice ( 20 points ) = 80 %



Participation in classes = 20 %

Classification improvement

Possible