Genetic Services for Cancer Diagnosis: When, Where, How

If cancer runs in your family, when do you need genetic services?

There are many features that can be present in a family that would indicate a referral is needed for genetic services. The following is a general (partial) checklist of characteristics that may indicate an increased risk of familial cancer or a heritable cancer syndrome. The symptoms of genetic diseases may resemble other conditions or medical problems. Always consult your doctor for a diagnosis and a complete list of characteristics:

Family History

___ A family history of multiple cases of the same or related types of cancer

___ One or more relatives with rare cancers

___ Cancers occurring at an earlier age of onset than usual (for instance, colorectal under the age of 50 years) in at least one family member

___ Bilateral cancers (two cancers that develop independently in a paired organ, for example, both kidneys or both breasts)

___ One or more family members with two primary cancers (two original tumors that develop in different sites)

___ Ashkenazi (Eastern European) Jewish background

Where to find genetic services

Genetic services are usually available in large hospitals or medical centers. The local phone book or health care provider directory may help you identify a genetic service provider in your area. Consult your doctor for more information.

The National Cancer Institute has a website available to search for cancer genetic professionals by geographic area. This Cancer Genetics Services Directory is a directory of individuals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others).

How genetic services can help

Genetic services can provide the following:

  • Information about the significance of your family history in terms of your risk of developing cancer and the chance that you have a cancer genetic syndrome.

  • A diagnosis of a cancer genetic syndrome by physical examination and/or genetic laboratory testing.

  • Details about the availability of genetic testing for cancer risk and the pros and cons of such testing.

  • Information about how or why a cancer genetic syndrome occurred (in most cases).

  • Details about the chance for the cancer genetic syndrome to reoccur in the family and individual relatives’ chance of having and passing on a mutation in a cancer susceptibility gene.

  • Recommendations for the management and treatment of the cancer genetic syndrome.

  • Support groups for the cancer genetic syndrome.

  • Connections to other families who have a similar, or the same, disorder.