Genetic Counseling

Your First Meeting with a Genetic Counselor

Like many people, you may feel that you need help understanding genetics and the impact a genetic disorder like hemophilia can have on your life. That’s where genetic counselors can be so valuable.

Genetic counselors are health professionals trained to help people understand genetic disorders and provide information and support to those who need it. Genetic counselors may also serve as patient advocates and refer individuals or families to local services.

Your hemophilia treatment center (HTC) also provides help in understanding genetic counseling. “Our patients see us both before and after their genetic counseling session,” says Rachel Stuart, nurse coordinator at Phoenix Children’s Hospital Hemophilia Center in Arizona. “We do a pre-genetic counseling session to explain what will happen and what they may learn, and then, after they receive the results of their genetic tests, we review it with them and help them work through their emotions and options.”

You probably have many questions about how genetic counselors can help you and your family. Answers to common questions about genetic counseling are provided below.

What is a genetic counselor?

The National Society of Genetic Counselors has adopted the following definition:

Parents

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health, and social work.

Genetic counselors work as members of a health-care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.

Genetic counselors also provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services. They serve as educators and resource people for other health-care professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.

What qualifications should a genetic counselor have?

Genetic counselors have a minimum of a master’s degree in genetic counseling or a related field. A genetic counseling degree includes extensive training in both human genetics as well as psychology. Many genetic counselors are board-certified by the American Board of Genetic Counseling.

Why should I see a genetic counselor?

Many individuals can benefit from genetic counseling. For example, if you have a family history of hemophilia, genetic counseling can help you determine whether you are a carrier and assess the probability of having children with hemophilia. If you’ve already had a child with hemophilia, genetic counseling can help you learn more about the disorder and determine your risk of having children with hemophilia in the future.

Many others may elect to meet with a genetic counselor, including people with family histories of any birth or genetic defect, women over age 35 planning pregnancies, or women who have had several miscarriages of unknown cause, among others.

What happens during a session with a genetic counselor?

Genetic counselors are prepared to speak with you about complex scientific and emotional topics concerning hemophilia and your present or future children. They often act as interpreters of technical medical information. They also are skilled at providing support in emotionally stressful situations, such as learning that you, your partner, your relative, or your child has hemophilia.

In a typical session, a genetic counselor may:

Request and interpret your individual, family, medical, developmental, and reproductive histories.
Determine your probability of transmitting hemophilia or other genetic conditions.
Discuss the inheritance, diagnosis, features, and management options for hemophilia.
Identify, coordinate, interpret, and explain genetic laboratory tests and other diagnostic studies.
Provide guidance on relevant social, educational, religious, or cultural issues you may have regarding hemophilia.
Help you make informed decisions about testing, management, and reproductive alternatives.
Identify community resources or support groups that may assist you.
What information should I provide to a genetic counselor?

In general, you’ll need to know your family’s history of hemophilia. Often, the genetic counselor will provide a family history form for you to complete prior to your visit. You’ll also need to bring (or have sent) any relevant medical records documenting the occurrence of hemophilia in you or your family.

Will a genetic counselor attempt to influence my decisions or direction?

No. According to the National Society of Genetic Counselors, a genetic counselor’s primary concern is helping you reach decisions appropriate for you and your family, or helping you adjust to complex information, uncertainties, or new diagnoses. The counselor is there to offer support and guidance. You’ll be advised of all the options, but the counselor won’t make decisions or suggest courses of action for you. The goal is to provide all of the information you need so that you can make informed decisions about hemophilia that are right for you.

Do genetic counselors perform gene therapy?

No. Genetic counselors educate families or individuals about the likelihood of passing on a genetic disorder such as hemophilia. Gene therapy is the highly technical science of altering genes to treat diseases. Genetic counselors may discuss gene therapy in specific disorders, but they are not the professionals who conduct research or carry out the process. Genetic counseling and gene therapy are totally different.

Can I benefit from genetic counseling if I’m not planning to have more children?

Yes. Counseling can help you better understand hemophilia and determine the likelihood of your children or of other family members having children of their own with hemophilia. Counseling can clarify potential risks and outcomes so you are better prepared.

How can I find a genetic counselor?

Your physician or HTC can provide referrals to genetic counselors. You can also search online for genetic counselors in your area by visiting National Society of Genetic Counselors Web site.

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