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The PROMPT Registry

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contributed by Jessica N. Everett, MS, CGC, U-M Genetics Counselor

Advancing understanding of inherited cancer risk through collaboration

Innovations in genetic testing technology over the past 5-10 years have opened up the ability to test multiple cancer risk genes at one time, at the same or lower cost than past testing for one or two individual genes. As a result, many testing laboratories now offer "next generation panel tests." These tests allow investigation of multiple cancer risk genes with one sample, at one time, for one cost. This can be an attractive option when the family history could suggest more than one inherited syndrome -- one test can evaluate for multiple syndromes. However, panel tests have also created some new challenges for patients and health care providers.

In the race to compete in the breast cancer genetic testing market, many labs began offering panels of genes associated with breast cancer risk beyond the BRCA1 and BRCA2 genes. These broader panels are helping us learn more about genetic causes of breast cancer, but are creating new questions as well. Management options for women carrying BRCA mutations are now fairly well established. Learning about cancer risks and efficacy of screening and preventive measures in BRCA mutation carriers required large, prospective registry databases where mutation status, cancer development, screening tests, and surgeries could all be tracked and followed over time. With panel tests, we’re now identifying carriers of mutations in genes like BRIP1, BARD1, RAD51C . . . all genes connected to breast cancer risk, but lacking follow up data to guide medical care. Mutations in genes like these are increasingly being identified through panel tests.

The PROMPT Registry (Prospective Registry of Multiplex Testing) was created to help bridge this knowledge gap. This collaborative registry project will begin the process of collecting data for patients with mutations in genes that are currently less well described and understood.

Patients can use a secure online information portal to enroll in PROMPT and provide data about their medical history and family history. Physicians and researchers can also use the portal to contact and update patients. Alternatively, patients have the option to share data in a de-identified way, meaning they cannot be identified or contacted directly by researchers.

This registry represents an important collaborative step toward improving understanding of multiple cancer risk genes.

Continue learning about the PROMPT Registry and cancer genetics:

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