Careers
Estimation of Risks of Genetic Counselling
Information on genetic risks is rarely definite and in medical genetics the
risks are estimated almost entirely in terms of ‘probabilities or odds’.
Empiric risks
This is the form of risk estimate available for most of the more common non – mendelian or chromosomal disorders. This varies between population and changes with time.
Mendelian risks
These risk estimates can be given only when a clean basis of single gene inheritance can be recognized for a disorder.
This is the most satisfactory form of risk estimate because they allow a clean differentiation into categories of negligible risk.
Mendelian Modes of inheritance:
AUTOSOMAL RECESSIVE INHERITANCE
Example of above type of Autosomal Recessive Inheritance includes the following:
Empiric risks
This is the form of risk estimate available for most of the more common non – mendelian or chromosomal disorders. This varies between population and changes with time.
Mendelian risks
These risk estimates can be given only when a clean basis of single gene inheritance can be recognized for a disorder.
This is the most satisfactory form of risk estimate because they allow a clean differentiation into categories of negligible risk.
Mendelian Modes of inheritance:
Example of above type of Autosomal Recessive Inheritance includes the following:
- Cystic
Fibrosis
- infantile polycystic kidney disease
- cystinuria
- Zellwegar syndrome
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I am Nagarasan in India. I am affected with congental myotonia from childhood. What genetic counseling is there for curing this in gene theraphy.
Gene therapy is still not an approved therapy in human beings.
However, limited symptomatic treatment may be available.
Also, if you have the genetic confirmation of the disorder, you can potentially prevent the future generation from inheriting the same condition.
Regards,
Dr. Risha Nahar
Genetic Consultant