Genetics and Public Health


1. Review the essential knowledge of the etiology of common (multifactorial) and rare diseases in human genetics
2. Lear about interactions between genes and environmental factors in the diseases’ etiology
3. Update the knowledge on genetic epidemiology
4. Ability to identify individual and family genetic risk and provide tools to perform genetic counselling and to get involved in the prevention
5. Framework genetic knowledge in screening and risk calculation for common diseases
6. Integrating genetic knowledge of communicable diseases into Public Health
7. Training the use of genetic testing for the diagnosis of genetic diseases, including the prenatal period, and to support precise, innovative and safer therapies.
8. To know the ethical, legal and social framework of human genetics.
It is expected that students acquire the ability to identify the potential of pathological mutations inheritance and predict the impact of genetic disease at different levels - for the patient, family, health care and community response - and develop a critical understanding in the application of the human and microbiota genome knowledge in health strategies and accessibility to genetic testing and pharmacogenomics.

General characterization





Responsible teacher

Profª. Doutora Maria Salomé Almeida


Weekly - Available soon

Total - Available soon

Teaching language





The general bibliography will be distributed in the first class, and the specific to each class, by the respective teacher. It is suggested the following general literature:

Main manual:
WHO Genomics and World Health report 2002 

Further suggestions

• Stevenson RE, Hall JG. Human malformations and related anomalies. Oxford University Press, 1th ed, 2006.
• Jones KL (ed). Smith´s recognizable patterns of human malformations. Elsevier Saunders, 6th edition, 2006.
• Harper PS. Pratical genetic counselling. Hodder Arnold, 7th ed, 2010.
• Ionnidis JPA. Personalized genetic prediction: too limited, too expensive or too soon? Ann Intern Med 2009; 150:139.
• Collins FS, Green ED, Guttmacher AE, and al. A vision for the future of genomics research. Nature 2003; 422:835-7.
• Hastings R, de Wert G, Fowler B, and al. The changing landscape of genetic testing and his impact on clinical and laboratory services and research in Europe. Eur J Hum Genet 2012; 20: 911-6.
• Pallet N, Thervet E. The genetics of kidney transplantation. Hum Genet 2011; DOT 1007//s00439-011 – 1092-8.
• Hudson KL. Genomics, health care and society. N Engl J Med 2011; 365: 1033-41.

Teaching method

Theoretical and practical lectures
With expository and interactive features between students and teacher; use of multimedia, demonstration of scientific research; access to web pages and use of specific software; presentation and discussion of pratical cases and real examples.
Format adapted to b-learning.

Dynamic of the lecture
Through the semester, each student will have to answer, in a written format, 4 sets of questions about classroom themes; each student should choose a theme to exemplify the role of genetics in Public Health, and prepare a final work with defined structure (poster or powerpoint presentation). Student may count on the teacher's support to clarify doubts and the best way to organize the individual final work.
The teacher can boost each lecture using the Faculty’s outside spaces (eg the Medical Genetics consultation at Hospital and Health Care Units’ visit), for exemplification of the trained subject (planning is conditioned to Faculty’s permission and institutions’ availability).

Average class time
Each class will have an average duration of 3 hours, considering the first half of the time for theoretical presentation of the theme and the remaining time for presentation of cases, and exemplification of situations and group work support.
There are 14 lessons scheduled in the 2nd semester.

Evaluation method

The evaluation will consider four moments – evaluation in group, oral presentation of the group work, individual answer to 4 blocks of questions and individual written work.
The group work should consider one of the planned topics of the Unit; students are free to organize small groups of 3-4 persons each, propose the theme and perform the oral presentation in the “five minute talk” format (five minutes to present/five minutes to discuss)
The individual evaluation consists of answering 4 sets of questions in a quizz format, on the subjects presented in class, provided throughout the semester, with a deadline for answers. It also includes the preparation of individual work in a structured format (poster or powerpoint presentation) that allows the integration of knowledge of genetics and public health. The written individual work should be send to teachers by mail, until the end of the semester.

Student must be present in a minimum of two-thirds of total number of classes (10 classes)

B-learning format
The class schedule is compatible with an adapted b-learning format, considering 25% in-person time and 75% online (25% online synchronous and 50% asynchronous). The presential lessons should include the presentation of group work

Subject matter

To achieve the proposed objectives and develop the suggested skills and knowledge, the syllabus of this course are distributed in 3 groups:
a) knowledge on essential genetics, which include topics as:
Introduction to Genomics and Public Health
Genome organization and expression
Molecular mechanisms of genetic disease

b) Genetic diagnostic instruments in Public Health, including:
Pharmacogenetics and orphan drugs
Genetic testing: diagnosis, prediction, prevention
Neonatal screening and throughout life cycle: value in Public Health
Genetics of common diseases and communicable diseases
Information, literacy and genetic counselling
Ethical, legal and social aspects

c) Exemplifying situations:
Congenital anomalies and rare diseases
The role of genetics in surveillance and response to epidemics
Genetics of cardiovascular disease
Genetics of familial cancer
Genetic diseases of late onset
Genetics and social behaviour: poverty, social mobility, violence, ethnic groups in Public Health


Programs where the course is taught: