Familial Studies Program

At Pathway Genomics, our goal is to provide the most thorough and comprehensive analyses for hereditary cancer. For some patients, we may identify a genetic change with no clear cancer association, or a change in which conflicting data exist. These genetic changes are called variants of unknown significance (VUS).

What is the Familial Studies Program?

Pathway Genomics offers a complimentary Familial Studies Program to help understand the significance of these genetic changes, and how the patient and family members may be affected.

Accurate classification of VUSs is required to help the medical community understand the impact of these genetic changes. The ability to properly classify a variant can be challenging due to conflicting or limited available information. By participating in Pathway Genomics’ Familial Studies Program, patients and clinicians can play a crucial role in the classification of variants.

After testing additional family members for the same variant observed in your patient, Pathway Genomics evaluates the correlation between cancer history and occurrence of the variant. The results of familial testing may or may not allow reclassification of the cancer risk due to the presence of the variant. You will be notified of any changes in variant classification. Please note that not all patients will qualify for complimentary testing.

Participation Benefits

Clinical Recommendations

The results can guide both current and future medical decisions.

Variant Classification

We constantly evaluate new information as it emerges, and continue to monitor the cosegregation of the participants and disease states in this program. Once a variant is reclassified, we will notify the clinician.

Knowledge

Testing can determine whether the genetic change is inherited or a de novo event. If the change is inherited, testing can help predict what, if any, risk exists for first-degree relatives.

How the Program Works


  1. Complete Application

    Any report where a VUS is detected will include an application for the clinician and patient to complete.

  2. Review and Approve Familial Testing

    Once Pathway receives the familial application, it will be reviewed within two to three weeks to determine program eligibility.

  3. Additional Family Members Tested

    Instructions will be sent to the ordering clinician that indicate which family members are authorized for testing. Accompanying paperwork will be supplied.

  4. Reporting

    Additional family members who decide to participate will receive a complimentary laboratory report for the specific change variant in question as well as an interpretation of the current clinical implication.

VUS Classification


Likely Pathogenic

This result indicates that there may be some preliminary clinical data suggesting an association with cancer; however, the information is not sufficient to make a clear determination of cancer risk.

Uncertain Pathogenicity

This result indicates there are either no clinical data or the data are conflicting; therefore, a determination of pathogenicity cannot be made.

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