Genetic Counselling – regulation and practice

Recommended Prerequisites

Knowledge of biology, biochemistry in the pre graduate cycle of courses in the scope of Biomedical Sciences.

Teaching Methods

For the lectures it will be used powerpoint presentations, handouts/articles/or other material that teachers understand to be best suited with the theoretical contents concerning Genetic Counselling – regulation and practice

For the theoretical and practical lessons will be used the model of role play in which a student assumes the role of the individual to be consulted and another student will be the genetic counseling technician. Concrete examples of the situations presented in lectures will be done.

The formative evaluation will be performed during the model role play during theoretical and practical lessons.

The formative evaluation will be performed on a written exam according to specific pedagogical objectives of the module and the number of questions will be representative of the importance of the issue to evaluate.

Learning Outcomes

To know the standards of good practice of genetic counseling. Know the Portuguese legislation for carrying out genetic counseling. Collaborate in genetic counseling in various context: (i) patients with diagnosis, ii) family members iii) prenatal diagnosis and iv) couples looking for medically assisted procreation techniques in situations of a) numerical chromosome changes b) chromosomal structural changes, c) autosomal dominant heredity diseases, d) autosomal recessive hereditary diseases, and heredity X-linked diseases, f) Mitochondrial inheritance of diseases, g) disorders with imprinting, h) diseases of multifactorial inheritance.

Work Placement(s)

No

Syllabus

Genetic counselling: definition, best practices

Portuguese legislation

Calculations of risk in situations of:

Numerical Chromosomal alterations

Chromosomal Structural Alterations

Diseases of autosomal dominant inheritance

Diseases of autosomal recessive inheritance

Diseases of X-linked inheritance

Mitochondrial heredity Diseases

Heredity diseases with imprinting

Heredity disease with multifactorial inheritance

No medical intervention in genetic counselling (diagnostic patient, patient's family, prenatal diagnostic t or use of medically assisted procreation techniques) in the above-mentioned situations.

Head Lecturer(s)

Jorge Manuel Tavares Lopes Andrade Saraiva

Assessment Methods

Assessment
Other: 20.0%
The evaluation consists of a multiple-choice questions an problem based resolution : 80.0%

Bibliography

Identificação de fatores de risco e prevenção das anomalias congénitas, Jorge M. Saraiva, 1998

Harper’s Practical Genetic Counselling, Angus Clarke,8th edition, 2018

Chromosome abnormalities and genetic counseling. RJ McKinlay Gardner, Grant R Sutherland, Lisa G Shaffer, 4th edition, 2012

Lei 12/2005 de 26 de janeiro

Decreto-Lei nº 131/2014 de 29 de agosto

Despacho nº 5411/97 de 8 de julho de 1997

J Genet Counsel 2015;24:548-552

Eur J Hum Genet 2015;23:1468-1472

J Genet Counsel 2007;16:713-728