Genetic Counselors

Genetic counselors are health professionals who are trained to help families understand genetic disorders and to provide information and support to those families. They may also serve as patient advocates by referring individuals or families to local services that can be of assistance.

Genetic research is a powerful tool for treating medical conditions, but it is still a new tool. Many people whose families are affected by genetic disorders don't understand how it will affect their lives. Even genetic researchers and doctors don't fully understand how genes cause all genetic disorders. Genetic counselors work with doctors and families to help families get the information they need to understand the disorder.

"My doctor told me that I will have a blood test in my second trimester of pregnancy that can detect if my baby has problems. This test is called maternal serum alpha-fetoprotein screening. What is maternal serum alpha-fetoprotein screening? What can it tell me?"

MSAFP screening

Maternal serumalpha-fetoprotein (MSAFP) screening is a blood test that looks at certain proteins to screen for certain types of birth defects like neural tube defects (such as spina bifida) and Down syndrome in pregnancy. This test is routinely offered to all pregnant women.

A genetic counselor plays an important role in helping expectant mothers and their families understand the difference between a screening and a diagnostic test. MSAFP is a screening test, so further testing may be needed to confirm a diagnosis. If the results from the MSAFP screening are not within the normal range, the genetic counselor can explain what additional testing/procedures (including ultrasound and amniocentesis) may be performed to diagnose the problem and provide support for the parents. Genetic counselors can help families understand the role that MSAFP screening plays in detecting possible birth defects, as well as the risks, benefits, and limitations of the additional testing.

"My son has a rare genetic disorder. Do you know any other patients with this disorder that I could talk to?"

Support

Genetic counselors are often part of a clinical team that can help families answer this question. The first step in answering this question is to clearly define what the rare genetic disorder is. Genetic counselors will often collect information about the relationship and health of other family members (called a ‘family history’) as well as information about the pregnancy, birth process, and early childhood development of a child who is being evaluated. Sometimes genetic counselors will help research the physical findings or learn which laboratories are best able to help make a diagnosis for a family. However, occasionally even with best efforts, it is difficult to clearly define the genetic disorder that a child has.

Regardless of whether a disorder is clearly defined or not, genetic counselors can often help families obtain support. Sometimes, it is a matter of identifying local families who have similar problems with parts of the disorder (such as a hearing or learning problem). Other times, genetic counselors can help find families in other parts of a state or even the country, especially if the condition is rare. Often, genetic counselors will contact their colleagues or tap into the Alliance of Genetic Support Groups to help families with questions find each other.

"My father died last spring from Huntington's disease. My father’'s sister and mother also had this disease, and my doctor told me that there is a gene test available that can tell me whether or not I will develop Huntington's disease. The thing is, I don’t know if I want to know and I’'m worried about what my insurance company will do if they learn that I do carry the gene."

Genetic Tests

Genetic tests can determine how likely someone is to develop certain diseases (such as someone with a family history of breast cancer), or even whether or not they will develop it (such as Huntington's disease). Huntington's disease is a genetic disease that is caused by inheriting a change (mutation) in a certain gene that causes anyone who inherits this mutation to develop the condition. People in families with a history of Huntington's disease now have the option of learning whether or not they have inherited this gene mutation.

Because these tests are often performed on people who do not have the disease themselves, there are a number of issues that are important to discuss before testing is performed. A genetic counselor is specifically trained to review the pros and cons of the testing (such as the impact it may have on a person’s health insurance) and help each person come to a decision that is best for him or her. This often means asking questions such as whether or not the individual wants to know, what he or she might do with the information, and how he or she might react to either result.

"Many of my family members have had cancer and I am worried about getting cancer myself. Is the cancer in my family inherited? What are my chances of getting cancer and what types of screening should I do?"

United States:

• The National Society of Genetic Counselors
• March of Dimes "genetic resource directory" can help locate individuals and programs that can act as resources and regional sites for genetic evaluation, screening, diagnosis, treatment, management, and/or counseling.
• The National Cancer Institute provides a search by last name, location, and cancer/genetic disorder.

In the United States, Canada, Australia, Puerto Rico, Denmark, Brazil, Israel, England, Singapore: The National Society of Genetic Counselors

United Kingdom:

Listing of genetics clinics

Other locations:

Please contact the genetic society for your area and ask for their assistance in locating a genetic counselor or medical geneticist. Some international genetic societies have websites listed on this page: Genetics Societies & Associations. Or try using this list: http://www.faseb.org/genetics/

Careers in Genetic Counseling:

The National Society of Genetic Counselors has information on training programs, certification, demographics, career opportunities, and populations served.