The Genetics Consult

For over thirty years, genetic research has uncovered critical information that has allowed advancements in medicine to enhance health.  Genetic counselors translate this scientific knowledge into practical information, helping individuals and families make informed healthcare choices.

 

What happens during the genetics consult?

The genetic counselor will contact you by telephone.  Detailed questions about your family history will be asked about your family and your partner’s.  Even if you are using an ovum or sperm donor, family history questions will still be asked of both members of the couple, since medical history of both parents is important and risk assessment includes risks related to diseases like cancer or diabetes that can run in families and certain genetic conditions that can affect pregnancy.

 

What information should I gather before the genetics consult?

It will be helpful for you to think about your relatives (grandparents, aunts, uncles, parents, siblings, nieces, nephews, cousins) and what medical conditions they have and their age and cause of death if applicable.  It may be helpful to contact a family member who may be more knowledgeable about the family history if you are unsure about some information.

 

Specific information that will be covered for the above mentioned relatives includes any diseases (both genetic diseases and common diseases), stillbirths, multiple miscarriages, mental retardation, or birth defects.   For particular diseases the approximate age of onset is helpful.  If a family had cancer, the type of cancer and age of diagnosis is helpful.  

 

What information do I get from the genetics consult?

The genetic counselor will then assess the actual risk of disease based on this detailed family history.   This risk will be discussed with you by telephone and appropriate follow-up will be organized.   Options related to testing, prevention, and other medical surveillance or intervention will be discussed.  Any test results will be fully explained and recommendations for testing for other family members will be made if appropriate.

 

Exposures to medications and their effect on the developing fetus will be discussed with women who are taking medications known to pose a risk for birth defects.  

 

Genetic testing

Standard genetic testing that is offered to all couples is testing based on ethnicity.  It will be helpful for you to know your family’s ethnic background (what countries your family comes from originally).  There are certain genetic conditions that are more common in specific ethnic groups.  Testing for cystic fibrosis and thalassemia are performed for all couples.  Additional testing is recommended by specific ethnic group.  All of these tests are blood tests. Any abnormal results will be discussed with you by the genetic counselor and recommendations for follow-up testing will be made.

 

Other genetic testing is sometimes indicated based on the family history.  These tests are usually blood tests and are very specific to a disease in the family.  The genetic counselor will determine where the testing can be done and organize all aspects of sample collection, provide information about the accuracy of the testing, risks and benefits of testing, and communication of test results.

 

Summary for your records

A copy of the genetics consultation summary and a drawing of your family tree will be prepared and will be provided to you for your records.  You may wish to provide a copy to your primary care physician, your relatives, or your child’s pediatrician for their file.