The Phases Of Genetic Consultation

Genetic Consultation involves determining whether a certain individual is a carrier of a gene that can cause illness and the risks involved in passing it onto the next generation and recurrence. Before the consultation is accomplished the geneticist or genetic counselor has to completer five phases. These are the Assessment, Evaluation, Communication, Support, and Follow up.

During the Assessment, the geneticist or genetic counselor will obtain medical information and family history of the individual seeking the consultation. Then, the information shall be properly interpreted during the Evaluation phase.

In the third phase, the genetics professional and or genetic counselor will Communicate the diagnosis to the concerning person and his family to the best of their abilities. The person concerned together with her or his immediate family and other related family members should be made to understand whatever information has been drawn in the first two phases.

To make it simple, the genetics professional shall do three things. First, he or she will review the information regarding the illness which shall include the expected course of such illness. Second, the geneticist will describe the risks involved to the family members in comparison to the risks that the general population has.

Third, the geneticist will discuss other options in reproduction such as the time appropriate.

In reviewing the information of the disease, the geneticist will determine the expected course of such disease, manage issues and identify possible treatments or interventions, and identify the underlying cause of the genetic condition including the pattern of inheritance.

Some of the reproductive alternatives that could be possibly discussed are pregnancy with pre-natal testing, pregnancy without the pre-natal testing, remaining barren, adoption, pregnancy by sperm or egg donation, or pregnancy following the pre-implantation genetic diagnosis.

After all these information are made known both to the geneticist and the concerning individual, couple or family, the Genetic Consultation will proceed to the next phase, the Support.

In this phase, the concerning individual and family will be provided with help in coping. There are many ways to do this. Since the diagnosis of a genetic condition can have an enormous impact to the individual and the whole family, it should be carried out and treated with utmost care, understanding, confidentiality and sensitivity.

Not everyone shall openly and calmly accept diagnosis no matter how serious the risks are involved. Thus, the geneticist shall be able to foresee possible reactions-such as shock, relief, disbelief, guilt, fear, shame, sadness, and acceptance-from the individual concerned and ready to make any measures that would make everyone calm and comfortable.

Family members who may be at risk for a genetic disorder must also be informed in some strategies that would best apply. It would also help to be emphatic in listening to what they should express.

If there is a further need for psychosocial report, the geneticist should be able to recognize such signs and respond with utmost care. Giving encouragement would also help.

The last phase of Genetic Consultation involves the Follow up. It means maintaining constant communications with the individual through arranging follow-up diagnostic testing, documentation of the content of consultation for the individual and his or her healthcare provider, and being available for further consultation.


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