Review of Cancer and Genetics
Some groups of people share common disease-associated variants in genes that have been passed on through families for generations. These pathogenic variants, called “founder” mutations, increase the risk for associated genetic conditions within that group. Almost every ethnic group is thought to be at increased risk for certain genetic conditions. For example, the risk to have a baby with Tay-Sachs disease is increased in individuals of Ashkenazi (eastern European) Jewish ancestry. Several other recessive conditions also have a higher incidence in Jewish populations.
Carrier Screening for Genetic Conditions
Carrier screening allows a person/couple to determine the chance of having a child with a recessive genetic condition. If both parents are carriers for the same genetic condition, there is a 1 in 4 chance of the child inheriting both genetic changes and developing the genetic condition. Carrier screening is aimed at identifying couples who may be unknowingly at risk to have a baby with a rare recessive genetic condition.
When should I consider genetic counseling?
The ideal time to pursue carrier screening is prior to pregnancy, to allow couples the most choices in family planning options. However, carrier screening can also be performed during pregnancy. There are many options for carrier screening, so it is recommended to meet with a genetic counselor to determine which option is best for you.
What to expect.
During your initial visit with a genetic counselor, you can expect to discuss:
- Personal and family medical history
- Options for carrier screening along with the benefits, risks, and limitations of screening.
If you decide to proceed with testing:
- A sample (usually blood, saliva, or buccal swab) is collected.
- Testing can be negative (not likely a carrier) or positive (carrier).
- Your partner may also choose to be tested.
- Please note that health insurance companies may cover most, if not all, of the cost of genetic testing. Coverage is determined on a case-by-case basis.
How do I arrange counseling and carrier screening?
If you would like more information or are interested in pursuing carrier screening, please contact the Clinical Genetics Program, Children’s Regional Hospital at Cooper: 856.968.7255.
Resources:
Jewish Genetic Disease Consortium (JGDC)
This educational material was supported through a generous grant from the Jewish Women’s Foundation – a committee of the Jewish Federation of South Jersey.