As per WHO, Genetic counselling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates: x
Pre counselling. Assess family history information. Conduct tests. Relative sex age and health.
Diagnosis and Recurrence risk estimation. Based on Pedigree analysis and medical literature.
Communication - interview. About treatments, preventive measures, diagnosis
Follow up. Refer to physician and consultant.
Avoid value judgement and stick to the facts. Use latest and best genetic techniques literature and Thoreau investigation.
Education about inheritance, testing, management, prevention, resources x
Counseling to promote informed choices and adaptation to the risk or condition. X
the disease may be autosomal dominant huntington's chorea. Autosomal recessive sickle cell anaemia. Sex linked recessive haemophilia. Sex linked dominant vitamin D resistant rickets or it can be chromosomal aberration like down syndrome klinefelter syndrome.
Type. Preventive by discouraging affected parents having children. Retrospective. Dealing with the disorder - abortion. X
Amniocentesis. Examine amniotic fluid to identify chromosomal or metabolic disorders
Biochemical analysis. Sickle cell anaemia detected by Hb electrophoresis
Pedigree analysis to predict disease.
Fetoscopy for congenital anomaly.
Used to manage diseases like down syndrome and avoid birth of cru di chat affected babies. Manage P K u disease by creating custom diet. X
Issues. Lack of awareness. Aversion to visit counselor. Myth about genetics. inadequate literature for knowledge by professional.