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Genetic Counselling

Genetic counseling

Genetic counseling is defined as "the process by which patients or relatives at risk of a disorder are advised of the consequences of the disorder, the probability of developing and transmitting it, and ways in which this can be ameliorated".1 An accurate diagnosis of the disorder is very essential for anv genetic counseling. A thorough knowledge of the manner in which a particular disorder is inherited is essential when giving advice to members of a family regarding the likelihood of their being affected, or having affected children.
Aims of Genetic Counseling

Aims of genetic counseling are: To help the individual or family to:

  • Comprehend the medical facts including the diagnosis, probable course of the disorder, and the available management.
  • Appreciate the way heredity contributes to the disorder and the risk of recurrence in the specified relatives.
  • Understand the alternatives for dealing with the risk of recurrence
  • Choose a course of action which seems to them appropriate in veiw of risk, their family goals,and their ethical and religious standards and act in accordance with the decision.
  • Make the best possible adjustments to the disorder in an affected family memberand/or to the risk of recurrence of that disorder.

Genetic counseling has an integral role in the management of genetic disorders. Counseling should be nondirective, psycho educational and involve good communication along with latest information, confiden­tiality, and truthfulness. Pediatricians and Gynecologists are the primary physicians for the diagnosis, and management of children and high risk couples with genetic disorders. Also besides treating the patients, physicians should make the parents or couple aware of the genetic disorder, risk of recurrence, prognosis and prenatal diagnosis. PND of any malformation is not the end of the diagnosis. PND of any malformation is an unexpected dilemma. It poses a great stress on the family, long-term guilt, and need for support. Decision regarding termination or continuation is difficult. So accurate prognosis has to be defined keeping in mind that each pregnancy is precious and there is always a desire for continuation in couples. Establishment of clinical standards and use of professional organizations to act as a resource for clinicians, the public, and legislatures is needed. Due to the increased requirement for genetic counseling, an expansion of genetics training for residents and clinicians and the development of computer-based interactive video programs for genetic counseling is recommended.

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