What Is Genetic Counseling?

Genetic counseling is a communication process between a healthcare professional trained in genetics and an individual and family affected by or at risk for an inherited disorder.

In India congenital anomalies and genetic disorders have become one of the major causes of infant morbidity and mortality.
  • It has been observed that a number of factors like high birth rate, consanguinity, allelic selection etc contributes to disease manifestations which occurs due to genetic reasons.
  • About 11 % of infants born every year have a genetic problemand about 3-4 % has congenital abnormality.
  • Moreover, certain regions in India due to allelic selection are prone to community based genetic diseases like Thalasemia, Sickle cell anemia, muscular and neurological disorder etc.
  • To detect, diagnose, and manage genetic disorders it is of utmost importance to understand the genetic background or the mutation/ mutations harbored by the individuals

The emergence of several genetic tests has had a tremendous effect on clinical diagnosis. Diseases, which were difficult to diagnose earlier, are now aided by genetic screening tests. These tests are new and not very well known among clinicians. More important, the implications of the results must be explained to the patient and relatives in a professional manner, since most of the times, the results have tremendous emotional impact on families. The education and counseling accompanying genetic testing is provided by genetic counselors in all developed countries, as this is essential for the decision-making process regarding testing and dealing with test outcomes.

Goals of Genetic Counseling:

  • Promoting awareness of the medical facts of the genetic condition
  • Explaining the role of heredity in the expression of the condition and its risk of recurrence
  • Discussing the options available for dealing with the disorder
  • Assisting families in choosing the options that are most appropriate for them.
  • Providing psychosocial support

The contemporary areas where genetic analysis is useful are:

  • Any Familial Disorder
  • Cancer genetics
  • Infertility, Artificial Reproduction Techniques and pre-implantation genetics
  • Neurogenetics and psychiatric genetics
  • Common adult disorders (e.g., cardiac diseases, diabetes, BP, asthma, etc)
  • Genetics in the primary care setting – birth defects and mental retardation

Who should seek Genetic Counseling?

  • Has a pregnancy at age 35 years or older
  • Has a history of infertility or multiple pregnancy losses
  • Has a family history of an inherited condition such as cancer, blood disorders, neurogenic conditions etc.
  • Has a child with a chromosome abnormality
  • Has a child with short stature, growth delay or overgrowth syndrome

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