Confidence in Variants? Release the Data!


Next generation sequencing tests are widely being adopted in oncology and many patients are benefiting. However, when assessing hereditary risk for cancer, sometimes results may come back that are difficult to fully understand. Reports may detail a “Variant of Unknown Significance”, also known as a VUS, which means that a mutation was found that has uncertain health implications. A variant could have uncertain penetrance, meaning there is an association with cancer but the frequency of having both the mutation and cancer is not fully understood. While many test results are definitive and interpretable, and research is constantly allowing better evaluations, the ambiguity of these types of variants can be vexing for doctors and patients to deal with.

Last week, researchers launched a new effort that will better define these types of variants. The project is called Participants in the Prospective Registry of MultiPlex Testing (PROMPT). Patients who have been sequenced for hereditary cancer tests may elect to participate by consenting the use of their data on the PatientCrossroads website. This collaborative data is then shared with researchers at Memorial Sloan Kettering, the Mayo Clinic, the Abramson Cancer Center of UPenn, and the Dana-Farber Cancer Institute.

The aim of PROMPT is to uncover new information about genes associated with cancer risk. Accumulating large patient datasets is essential to better defining the penetrance of variants, understanding VUS, and elucidating clinical tumor-genotype specific associations. As this information is organized and built, risk profiles and the management guidelines for screening and prevention of cancer will become even more precise and clear.

PROMPT is an evolution of the Free the Data movement to collect patient data on BRCA 1 and BRCA 2 mutations. Myriad Genetics once held patents over the BRCA panel testing and aggregated their data in private databases, hoarding information on the genes internally and hindering advances in how we understand this important cancer susceptibility gene. This movement was launched after the Supreme Court declared that human genes could not be patented. And since Free the Data launched, individuals from all over the world have submitted their data. Now we have an amazing understanding of the increased risk associated with specific variants in BRCA1 and BRCA2. Physicians understand measures that can be taken to decrease the risk of developing breast or ovarian cancer based on the patient’s genotype. The hope is that PROMPT will make all cancer susceptibility genes as well-defined as the BRCA genes by using the same tools of transparent, shared patient data.

New Amsterdam Genomics wholly promotes patients safely sharing their genomic data for these types of large studies. We encourage everyone sequenced by us to consider sharing their de-identified data for research purposes. The feedback system allows for the biomedical industry to better assess what each individual mutation means for your health. Our analysis and whole exome sequencing are the most robust tests on the market. We openly share with the research community to make it even better. We provide individualized health care with genomic insight while also being open with our data in order to help drive medical innovation and new discoveries.



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