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Basic Genetic and Genetics Counseling

Objectives

Training and education of primary health care workers on public health approaches for the community prevention and control of genetic and congenital disorders and on the basic principles and application of genetic counseling at the primary health care level.


Prevention of congenital and genetic disorders at the population level depends on a combination of basic public health measures and the education and involvement of the primary health care network.
Genetic approaches appropriate at the primary health care level include:

 

  1. Preconception counseling information
  2. Screening and pre-screening counseling for premarital carrier detection
  3. programs and neonatal screening
  4. Post-screening counseling for couples not at risk and referral of at risk couples
  5. Identification and referral of individuals and families at increased genetic risk to specialized centers
  6. Counseling related to consanguinity and referral when indicated

 

Role of primary health care worker in basic community genetics

Primary health care workers need the following training and education:

  1. Training in taking and recording a basic genetic family history, including pedigree construction for large consanguineous families
  2. Guidelines on detecting possible genetic risks and where and when to refer
  3. Training in the basic ethical principles and techniques of genetic counseling.
  4. Training in preconception counseling
  5. Training in pre screening counseling, how to detect at risk couples or individuals and appropriate referral
  6. Information on the advantages and disadvantages of consanguineous marriages
  7. Information on common genetic disorders in the community
  8. Access to appropriate information materials for patients, families and the general public
  9. Information on the existing specialist services and patient and family support organizations
  10. Information on genetic programs that would be introduced on the national level

 

Curriculum

This is a full-time one month course aiming to train and educate physicians and nurses in primary health care center on basic principles of first level genetic counseling. This includes pre-conception, pre-screening, and premarital counseling and the timely referral of at risk couples to specialized centers
Theoretical hours include seminars, formal presentations and discussions

Basic theoretical courses

  1. Principles of Human Genetics
  2. Principles of Genetic Counseling
  3. Common disorders in Jordan and special topics in clinical genetics
  4. Special topics and discussions

 

Principles of Human Genetics

  1. Introduction: cell cycle, mitosis, meiosis, DNA structure and function,
  2. Chromosomes and cytogenetic techniques.
  3. Basic molecular genetics and techniques
  4. Single gene disorders and pedigree construction
  5. Chromosome disorders
  6. Other modes of inheritance

 

Principles of Genetic Counseling

  1. Basic principles, aims, and ethical issues in genetic counseling
  2. Preconception counseling
  3. Consanguinity and counseling
  4. Premarital screening programs and counseling.
  5. Newborn screening and counseling ( 1 hour)
  6. counseling for chronic non-communicable diseases
  7. Community education
  8. Referral and information on specialized genetic services in Jordan

 

Approach to Common Genetic disorders in Jordan and special syndromes

  1. Epidemiology of hereditary disease and congenital malformations in Jordan (1hour)
  2. Thalassemia, sickle cell anemia and G6PD deficiency
  3. Phenylketonuria and primary hypothyroidism
  4. Familial Mediterranean fever
  5. Congenital adrenal hyperplasia and ambiguous genitalia at birth
  6. Deafness and speech disorders
  7. Mental retardation
  8. Down syndrome

 

Special topics and discussions

  1. Congenital malformations and teratology
  2. Normal and abnormal growth of infants and children
  3. Dysmorphology
  4. Recognition of uncommon and rare syndromes
  5. Prenatal screening and diagnosis
  6. Discussions

 

Practical Sessions

  • Practical lab rotations
  • Problem based learning in genetic counseling
  • Supervised genetic counseling sessions / 2 students
  • Seminars prepared by participants on common disorders in the community and
  • special topics
  • Practical sessions on accessing genetic databases