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Community genetics module - Part 1 - Part 2 - Part 3

Training Course in Sexual and Reproductive Health Research 2010

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. The participants, after completion of the course would be expected to act as trainers to further health care providers and to supervise research in this field.

Learning objectives

  1. Training in taking and recording a basic genetic family history and detecting possible genetic risks (e.g. history of previous stillbirth, neonatal death, congenital malformation, multiple abortion or hereditary blood disorder in the family)
  2. Training in the basic ethical principles and techniques of genetic counseling
  3. Training in preconception and pre-screening counseling
  4. In populations with high consanguinity rates, couples may seek premarital counseling regarding consanguineous marriages. Training and specific scientific evidence-based guidelines in counseling on consanguineous marriages should be acquired by all health care providers.
  5. Information on common genetic disorders in the community and how to formulate research to help enrich knowledge on rates of these disorders
  6. Basic research methodology and application
  7. Further training of primary health care providers

Basic content of the module

  1. Principles of Human Genetics (10 hours)
  2. Principles of Genetic Counseling (10 hours)
  3. Common congenital disorders and special topics in clinical genetics (10 hours)

Principles of Human Genetics (10 hours)

  1. What is community genetics (1 hour)
  2. Introduction: Categories of genetic diseases, introduction to human genetics and genomics (2 hours)
  3. Basic molecular genetics and techniques (1 hour)
  4. Single gene disorders pedigree construction and risk analysis (3 hours)
  5. Chromosome disorders and cytogenetic techniques (2 hours)
  6. Other modes of inheritance (1 hour)

Principles of Genetic Counseling (10 hours)

  1. Basic principles, aims, and ethical issues in genetic counseling ( 2 hours)
  2. Preconception counseling (1 hour)
  3. Consanguinity and counseling (1 hour)
  4. Premarital screening programs and counseling(1 hour)
  5. Newborn screening and counseling (1 hour)
  6. Counseling for chronic non-communicable diseases (1 hour)
  7. Community education (1 hour)
  8. Genetic testing (1 hour)
  9. Principles of population genetics (1 hour)

Approach to common congenital disorders and special syndromes (10 hours)

  1. Epidemiology of hereditary disease and congenital malformations (1hour)
  2. Principles of embryology and mechanisms of congenital malformations (1 hour)
  3. Environmental teratogens (1 hour)
  4. Birth defects registry (1 hour)
  5. Prenatal screening and diagnosis (1 hour )
  6. Thalassemia, sickle cell anemia and G6PD deficiency (1 hour)
  7. Phenylketonuria, primary hypothyroidism, cystic fibrosis (1 hour)
  8. Down syndrome and other chromosome abnormalities (1 hour)
  9. Basic concepts in dysmorphology (1 hour)
  10. Deafness and speech disorders (1 hour)

Recommendations for Research