This test will tell you if you are a carrier of a genetic disease on the testing panel and your risk for having a child with that condition. See below to find out what it means to be a carrier and the type of conditions on the panel. Carriers Typically people who are carriers of diseases on this panel do not have symptoms. There are two types of diseases on this panel: recessive and X-linked diseases. Recessive Diseases Two carriers of the same recessive disease have a 25% (or 1 in 4) chance in each of their pregnancies that the baby will be affected with that disease. Carrier couples are counseled about their options to build a healthy family. X-Linked Diseases For female (sex assigned at birth) carriers of X-linked diseases, there is a chance of having an affected child regardless of her partner’s carrier status. Typically sons are more severely affected than daughters. It is recommended that all females have screening, regardless of their partner’s results. Individuals who are carriers of X-linked conditions are strongly advised to take advantage of the genetic counseling included with testing to discuss their results and reproductive options. Learn more about Reproductive carrier screening with this short video.

You should consider this test prior to starting or expanding your family. jscreen recommends updating testing prior to any pregnancy. If you or your partner are already pregnant, we recommend testing as soon as possible.

The panel is not designed to explain symptoms of an undiagnosed condition. However, there is a small chance that testing will indicate that you have or are at-risk for a medical condition, such as familial Mediterranean fever or Gaucher disease. If this happens, your genetic counselor will review this information and discuss appropriate follow-up care. If you are concerned about your personal health, we recommend that you speak with your health-care provider or a local genetic counselor.

If you learn you have a mutation in a cancer gene, there are many ways to maintain your health and to impact the health of your family. A genetic counselor will walk you through your results and options for next steps.Depending on the results, options may include:• Lifestyle modifications (for example: reduced alcohol consumption)• Increased and/or more frequent cancer screening (for example: mammogram, colonoscopy, prostate exam, skin cancer screening)• Preventative risk-reducing surgeries (for example: mastectomy, removal of ovaries after childbearing)• Inform decisions about about cancer treatments or medical management• Options to avoid passing down mutations to your future children (for example: in-vitro fertilization (IVF) with pre-implantation genetic testing, adoption)If you test positive for a mutation, you’ll be able to inform your relatives, who may also be at-risk.‍

No. There are many factors that contribute to a person’s risk for developing cancer, including lifestyle, diet, environmental exposures, and chance. But some cancers are related to specific genetic changes that are inherited. For example, about 5-10% of breast cancers and about 20-25% of ovarian cancers are due to inherited genetic changes. A person may have an inherited change in a cancer gene even if cancer hasn’t occurred in their family. If you have specific questions related to your personal or family history of cancer, please contact a jscreen genetic counselor at genetic.counselor@jscreen.org. ‍