Hereditary Cancer

Hereditary Cancer Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as either a positive or negative result.

We accept applications to the Hereditary Cancer Variant Testing Program for any individual found to have a VUS through hereditary cancer gene testing at our laboratory. There is no charge for variant testing for approved family members. GeneDx will make the final determinations for VTP in its sole discretion.

Application Process for the Hereditary Cancer VTP:

  • Fax a detailed pedigree to our cancer genetic counselors at 201-421-2314 or send the information by email to Please place a note on the fax indicating that you are submitting the pedigree for VTP consideration.
  • Our VTP team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within 3 weeks of receipt.
  • A member of our VTP team will contact the ordering provider or genetic counselor after the case has been reviewed to let him/her know if any family members have been approved for acceptance into the VTP. If we are extending an offer for family member variant testing, we will discuss logistics of sample submission at this time.

Note that testing through the VTP only includes testing for the familial VUS. More thorough cancer gene testing (as was performed in the original patient) is not provided through the VTP.

Some reasons why a family might not be accepted into the Hereditary Cancer VTP:

  • The VUS is in a gene that does not correspond to the cancer history in the family.
  • The VUS is present in the mosaic state.
  • There are no informative living family members (i.e., all of the relatives with relevant cancer diagnoses are deceased).
  • In some cases, we may learn more, and the family may be better served, by clinical genetic testing in an affected family member rather than testing the submitted family member only for the VUS.
  • Variant studies of low or moderate penetrance cancer risk genes (like CHEK2 or BRIP1 for example) may be more challenging than studies of high penetrance genes (such as BRCA1 or BRCA2); for this reason, we may be less likely to approve variant studies for families with low to moderate risk gene variants.

Re-classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the Variant Testing Program will lead to reclassification of a VUS.

For more information please contact:
The GeneDx Hereditary Cancer Genetic Counselors at 888-729-1206