positive genetic carrier screening consult
what happens during the genetics consult?
The genetic counselor, Amy Vance, will contact you by telephone.
Detailed questions about your and your partner’s family history will be asked. Even if you are using an ovum or sperm donor, family history questions will still be asked of you, since medical history of both gamete providers is important. Risk assessment includes risks related to diseases like cancer or diabetes that can run in families and certain genetic conditions that can affect pregnancy management.
Issues regarding the screening test that you tested positive for will be addressed, such as:
what information should I gather before the genetics consult?
Please authorize your physician to release the test results to the genetic counselor.
Review your relatives' (grandparents, aunts, uncles, parents, siblings, nieces, nephews, cousins) medical conditions and their age and cause of death. Specific information that will be requested includes any diseases (both genetic diseases and common diseases), stillbirths, multiple miscarriages, mental retardation, learning disabilities or birth defects. 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.
what information do I get from the genetics consult?
The genetic counselor will discuss the test result and its implications and make recommendations for additional testing if indicated based on the 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. Recommendations for testing for other family members will be made if appropriate.
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.
what happens during the genetics consult?
The genetic counselor, Amy Vance, will contact you by telephone.
Detailed questions about your and your partner’s family history will be asked. Even if you are using an ovum or sperm donor, family history questions will still be asked of you, since medical history of both gamete providers is important. Risk assessment includes risks related to diseases like cancer or diabetes that can run in families and certain genetic conditions that can affect pregnancy management.
Issues regarding the screening test that you tested positive for will be addressed, such as:
- Information about the condition
- Inheritance pattern of the condition
- The risk is for your offspring to inherit the gene
- Further testing that may be indicated (different testing may be recommended when one gamete provider is a known carrier). For this reason, genetic counseling prior to having additional testing is recommended.
what information should I gather before the genetics consult?
Please authorize your physician to release the test results to the genetic counselor.
Review your relatives' (grandparents, aunts, uncles, parents, siblings, nieces, nephews, cousins) medical conditions and their age and cause of death. Specific information that will be requested includes any diseases (both genetic diseases and common diseases), stillbirths, multiple miscarriages, mental retardation, learning disabilities or birth defects. 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.
what information do I get from the genetics consult?
The genetic counselor will discuss the test result and its implications and make recommendations for additional testing if indicated based on the 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. Recommendations for testing for other family members will be made if appropriate.
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.