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Community genetics - Course files

Training Course in Sexual and Reproductive Health Research 2012

Community genetics

Module coordinator: Hanan Hamamy

The objective of the module is the training and education of health care workers in developing countries on public health approaches for the community care and prevention of congenital disorders and on the basic principles and application of genetic counseling at the primary health care level with emphasis on the importance of informed reproductive choices, with the aim of reducing 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 the scientific information whereby they can 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.

The proposed module intends to place more emphasis on research in community genetic services and reproductive genetics at the primary and secondary health care levels.

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 where and when to refer them.
  • 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

  1. Principles of human genetics
  2. Principles of genetic counseling
  3. Prevention strategies
  4. Research priorities

Principles of human genetics (October 15-24)

  • 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 population genetics

Principles of genetic counseling (October 25 - November 4)

  • 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 (November 5-23)

  • Community genetic services
  • Prevention of congenital disorders
  • Birth defects registry
  • Prevention programs for hemoglobinopathies
  • Basic concepts in dysmorphology
  • Research priorities in integrating community genetic services in primary care settings
  • Writing for publication