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Vanderbilt's My Cancer Genome Provides One-stop Data Shop for Cancer Mutations, Therapies, Trials


Seeking to help physicians and scientists at their institution find more effective therapies for oncology patients and stay up to date on personalized medicine developments, researchers at Vanderbilt University's Ingram Cancer Center in 2009 began developing an online resource that provided information about the clinical significance of cancer genetic mutations and their impacts on treatments.

The inventors — Mia Levy, an assistant professor of informatics and medicine, and William Pao, a professor and director of Personalized Cancer Medicine at Vanderbilt — initially built the system, named My Cancer Genome, to provide data on mutations and treatments for patients with lung cancer and melanoma. They also linked to the university's electronic medical records so physicians could access data about their patient's cancer directly from their health records.

Today, the free system, which officially launched in March 2011, has grown to include data on a total of 18 cancer types including breast, bladder, colorectal, ovarian, and thyroid cancers; as well as curated information about 26 genes and variants within those genes that are targeted by therapies, Levy told BioInform this week.

Physicians, researchers, patients, and caregivers can search generally for information about cancers they're interested in or they can narrow their search by genes and variants. The information is provided and curated by Vanderbilt researchers and colleagues from more than 20 other institutions including the University of Torino, Italy; Mount Sinai Medical Center; Johns Hopkins University School of Medicine; and Oregon Health and Science University.

A second component of the system is a clinical trial database that contains data from more than 37,000 clinical trials downloaded from the registries run by the National Cancer Institute and the National Institutes of Health. Users can search for drug trials for their patients by disease or by gene — there are over 450 types of genes associated with trials in the system.

The third and final component of My Cancer Genome is the DNA-mutation Inventory to Refine and Enhance Cancer Treatment, or DIRECT, database. This section is designed to support users studying very rare cancer mutations that only occur in a few cases and have much less supporting scientific evidence for their clinical significance, according to Levy.

It’s the only part of the system that has restricted access — due to copyrights on the data, users have to submit a request form in order to receive customized reports that provide patient-level, mutation-specific drug response data.

For now, DIRECT is being used to catalogue clinically relevant somatic mutations in the epidermal growth factor receptor gene in non-small cell lung cancer patients but the developers plan to expand it to incorporate data on all known mutations that have potential clinical significance in various types of cancer.

Currently, DIRECT contains more than 1,800 patient entries including demographics, mutations, and drug response data culled from 165 papers as well as data on 188 primary and four secondary EGFR mutations.

Other plans for My Cancer Genome include making it possible for other institutions to link it to their EMR systems via application programming interfaces provided by the Vanderbilt development team.

Levy told BioInform that she and her colleagues are working with an unnamed cancer center on a proof-of-concept project focused on testing the feasibility of integration arrangements. She could not provide a timeline for either the duration of the pilot or when Vanderbilt will begin allowing other institutions to connect their EMRs with My Cancer Genome.

She also said that her team is open to accepting data from any institutions that are willing to contribute.