Genetic Counseling

When you are scheduled to meet with a genetic counselor, a number of questions may arise:

What does a genetic counselor do?
How will it be helpful to meet with the genetic counselor?
What is likely to occur in a genetic counseling session?
What should I tell the genetic counselor?
What can the genetic counselor tell me?

A genetic counselor is a professional who works with families to review the genetic testing and inheritance pattern of Fragile X, obtain a detailed family history, and discuss reproductive issues and options.. The genetic counselor provides you, as a family member, with professional and emotional support as needed. Because of the importance of the interaction between the counselor, yourself and your other health care providers in the counselor is essential in the interpretation of and providing of accurate information regarding Fragile X.

When meeting with a genetic counselor, you will be asked to give information regarding the medical or developmental/learning history of other family members (including children, parents, brothers and sisters, aunts and uncles, cousins, nieces and nephews, grandparents). The counselor will review the genetic implications of the diagnosis including identifying other family members who are at risk to have inherited the gene mutation. If you wish, the counselor can make suggestions or assist with informing or contacting family members regarding testing. A genetic counselor trained to communicate information in a way that can be understood by you. The information shared in a genetic counseling session is confidential.

Genetic Counseling for Fragile X Syndrome

When your child is diagnosed as having fragile X syndrome, or a family member is identified as being a carrier of a Fragile X mutation, you should be referred to a genetic counselor. Often the first contact with the genetic counselor will be by telephone. In this initial contact, the discussion may center on an overview of the clinical findings associated with fragile X syndrome brief explanation of the testing procedure and result, and what the diagnosis means for you, any children you might have and other family members. A meeting with the genetic counselor will be scheduled for you and depending on the setting and situation, your child. You may wish to have other family members join you during this meeting. Sometimes the genetic counselor will meet with you independently and sometimes it will be in conjunction with a medical geneticist, who will likely examine your child or affected family member. If the counseling will be focused on carrier testing an exam is often not indicated.

The genetic counseling process for fragile X syndrome is one that touches on many different areas and the session is structured so that information can be shared between you and the genetic counselor. The session may begin with an overview of fragile X syndrome, fragile X related ovarian/fertility issues, fragile X-associated tremor ataxia syndrome or any other Fragile X related issues. Then, the genetic counseling session will proceed to cover several different areas. A detailed discussion regarding the clinical findings associated with fragile X syndrome, or other Fragile X related issues will take place and information regarding the specific findings related to your child or family member will be discussed.

The genetic counselor will also review in depth with you the testing that was performed on you, your child or family member and help you to understand the result and the implication of this testing. You will be introduced to such new concepts as: chromosomes, fragile site, FMR-1 gene, CGG repeats, methylation, and FMRP. And you will be amazed at how quickly you will master these words and concepts.

As you and the genetic counselor review the family information, you will be able to increase your knowledge regarding the X- linked inheritance pattern of the fragile X gene mutation. During the genetic counseling session, you will also learn about the prenatal testing options that are available to you and to other family members who also carry the gene mutation.

Finding out that you carry the Fragile X gene mutation does NOT mean that you cannot have children without the gene mutation. From your meeting with the genetic counselor, you may also obtain information regarding interventions that are available to enhance the developmental potential of your child. You may wish to stay in contact with the genetic counselor after the initial meeting as the genetic counselor can help you as you move through the various stages of coping with the diagnosis. The genetic counselor can also provide you with continuing information that will be of help to you and the professionals in your area who are working with you, your child or family member. Additionally, the genetic counselor can work with you and other family members in explaining the fragile X diagnosis and coordinating testing throughout the family.

If you or a family member are planning a pregnancy or find that you are pregnant, then it is important to have the support and coordination skills of the genetic counselor. The genetic counselor has the resources to determine who is at risk to have a child affected with fragile X syndrome, to refer you or your family member to appropriate testing sites or to help arrange testing, to interpret and explain testing results, and to support you or your family member through the prenatal process.

Due to the recent discoveries of other Fragile X related conditions such as premature ovarian failure and fragile X associated tremor ataxia syndrome the genetic counselor can assist in making referrals for you or other family members to be evaluated for these conditions.
 

Louise W. Gane, M.S.
Assistant to the Director/Genetic Associate
M.I.N.D. Institute, UC Davis Health System

Liane Abrams, M.S., C.G.C.
Genetic Specialist
National Fragile X Foundation