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Community genetics - Course files
Training Course in Sexual and Reproductive Health Research 2013
Community genetics
Module coordinator: Hanan Hamamy
The aim of the module is to educate health care providers in developing countries on feasible public health approaches addressing community care and prevention of congenital disorders. The module presents the basic principles and application of genetic counseling at the primary health care level with emphasis on the importance of informed reproductive choices. The goal of community genetic services is to reduce the burden of congenital disorders on individuals, families and the community. The module would also include basic knowledge on research methodologies to highlight the importance of collecting and analysing data that establishes a baseline situation analysis of the frequencies and types of congenital disorders in the country, the problems encountered and solutions proposed.
Community genetic services intend to provide individuals and couples with simple scientific information allowing them to maximize the chances to have healthy progeny. Community genetic services are best integrated within the community reproductive health services, preferably at the primary health care level in developing countries so as to reach all those in need with equity and efficiency.
Learning objectives
Upon completion of this module, participants will be able to:
- Understand the principles of inheritance of diseases.
- Understand the basis of common congenital disorders in the community.
- Take a basic genetic family history and construct a pedigree.
- Know how to detect families with genetic risks and those that need referral to specialised centers.
- Know the basic ethical principles and techniques of genetic counseling.
- Offer preconception counselling.
- Offer prescreening counseling.
- Offer counseling related to consanguinity in communities with high consanguinity rates.
- Know the basic strategies for the prevention and care of common genetic disorders in the community.
- Access appropriate information materials for patients, families and the general public.
Basic content of the module
- Principles of human genetics
- Principles of genetic counseling
- Prevention strategies and research priorities
Principles of human genetics (October 30 - November 10)
- What is community genetics
- Introduction: Categories of genetic diseases, introduction to human genetics
- Single gene disorders, pedigree construction and risk calculation
- Chromosome disorders and cytogenetic techniques
- Multifactorial inheritance
Principles of genetic counseling (November 11-19)
- Basic principles, aims, and ethical issues in genetic counseling
- Ethical issues in medical genetics and genetic services
- Preconception counseling
- Consanguinity and counseling
- Genetic screening and testing
- Prenatal screening and diagnosis
Prevention strategies and research priorities (November 20-30)
- Community genetic services
- Prevention of congenital disorders
- Prevention programs for hemoglobinopathies
- Research priorities in integrating community genetic services in primary care settings
- Writing for publication
Module validation
In order to validate this module the participants are required to submit their assignment and answer to multiple choice questions.
Assignment
Based on the WHO report WHO. Community genetics services: report of a WHO consultation on community genetics in low- and middle-income countries. Geneva: WHO; 2010, the participants are required to write a 5-7 pages of assignment on:
- A situation analysis of the rates of common congenital disorders and the available community genetic services in the country.
- The factors that contribute to the prevalence of congenital disorders and the current impediments that are limiting community genetic services in their country.