Home » The unavoidability of genetic counseling

The unavoidability of genetic counseling

Share it on:

Genetic counseling: definition

“Genetic counseling” was defined in 1975, by the Committee on Genetic Counseling of the American Society of Human Genetics (ASHG), as a communication process concerning the occurrence or risk of occurrence of a condition of genetic nature in a family. This definition is the most widely accepted internationally and nationally. This process includes the attempt by one or more professionals, appropriately trained, to help the individual or family:

1. to understand medical information including the diagnosis, the probable course of the illness and available forms of care;

2. to assess how heredity contributes to the occurrence of the disease and the risk of recurrence that exists in specific family members;

3. to understand all the options that exist in dealing with the disease and the risk of recurrence;

4. to make the choices they feel are most appropriate, taking into account both risk and the goals of family members and ethical and religious standards, to act consistently with respect to the choices they make;

5. to achieve the best possible adaptation of the family member affected and/or at risk of recurrence.

Pre-test and post-test genetic counseling

Genetic counseling, in accordance with national and international guidelines, should be an integral part of the path inherent in the decision to undergo genetic testing since, the latter raises, particularly following the communication of the result, psychological, social and ethical implications.

Genetic counseling is divided into pre-test counseling and post-test counseling.

Pre-test counseling is conducted prior to the performance of a genetic test and is performed to:

-clarify the appropriateness of the test, limitations, reliability, specificity and implications related to the results;

-acquire and/or integrate pedigree information;

-collect informed consent to perform the investigation.

Post-test counseling is performed after the analysis to:

-communicate the genetic test result by clarifying the clinical/prognostic implications;

-discuss the risk calculation (risk of getting sick or reproductive risk);

-start a multispecialty, multidisciplinary clinical-care-rehabilitation follow-up path for patients with a given genetic condition..

Genetic counseling plays an important role in health care, so it is essential that there is achievement and maintenance of the quality of genetic counseling.

Finally, in reporting the outcome, it is important to emphasize the words of the President of the American College of Medical Genetics (ACMG), Marc S. Williams, MD – in the article on genetic testing in “The Nation’s Health,” the official journal of the American Public Health Association (APHA): “A negative test today will not necessarily be a negative test tomorrow. The advantage of genetic testing over almost all other types of tests that are done in medicine is that once we’ve done the test, we can go back to that information and reinterpret it using the latest knowledge.”

Bibliografy