DNA ‘Hackathon’ Looks for Cure of Man’s Rare Cancer

To get around that, Varshny's team used genetic data from an NF1 tumor to identify potential causes of NF2. Although the diseases are similar, more data is available for NF1.

"The generalization is lacking to really approach that," Varshny told the crowd on Friday night. "We have to build something more scalable."

Paseman envisions using additional hackathons to build a repository of research on rare cancers. All of the data, code and methods developed for a particular hackathon patient can be used to study future hackathon patients, and vice versa.

He also wants patients to donate their tumor tissue for DNA sequencing and research. But most genetic data is sequestered in private databases around the world and not shared, according to David Haussler, a prominent geneticist at the University of California, Santa Cruz.

"This is an enormous problem and an enormous lost opportunity," Haussler said in a 2015 TED talk at the university.

In that talk, Haussler described the situation of a 6-year old boy named "Robin," who had cancer of the lining of the brain. Chemotherapy and radiation treatments initially eradicated his tumors, but they came back. With his doctor out of treatment options, researchers scored a genetic database at UC Santa Cruz for matches for Robin's cancer genome. To their surprise, they found a group of matching cancer genomes from other organs. According to Haussler, cancers from different organs might match up for one in every five cases.

The matches suggested a new therapy for Robin, to which he had a partial response. But Haussler emphasized that the boy could have had a better outcome if researchers had access to genomes in other databases.

"Every person who donated their genome to our database helped Robin," Haussler told the audience. But "maybe there's a little girl in Paris or a little boy in Berlin who has a cancer genome that is the key to unlocking the secrets of Robin's genome."

Moreover, privacy concerns can deter patients from donating their DNA. Although the Genetic Information Nondiscrimination Act of 2008 limits the extent to which employers and health insurers can use genetic data, it doesn't cover all potential uses of the data. Life insurance companies, for example, are exempt from the statute and can use genetic data to discriminate against consumers. The Health Insurance Portability and Accountability Act (HIPAA) presents additional challenges, requiring health care providers to shield the patient data they collect.

Paseman is adamant. "What I want to do is tell people who have rare, terminal, untreatable diseases is HIPAA is not really a big deal. We're almost dead anyway, who cares? Let's come up with a way to release all this information out there so people can use it."

He added, "My hope is simply by having everybody stand shoulder-to-shoulder contributing what they can and having it combined in an automatic, scalable way, we can make some progress not only on my disease, and not only on rare diseases, but all diseases, simply by putting it out in the public.”

Some experts believe sharing genomes may ultimately help us cure cancer. By studying genetic mutations, researchers can predict how likely a cancer is to spread or reoccur and how a patient will respond to a drug. In turn, doctors can recommend treatments tailored to each person.

"In the past, a patient lived five years and we called him cured," James Hsieh, a kidney cancer expert at Washington University School of Medicine in St. Louis, told participants this past weekend. "Now we can think about really curing patients of their disease."

Right now, Paseman is stable. Surgery to remove his diseased kidney was successful. A brain tumor discovered at the time of his diagnosis hasn't grown. But a recent scan showed spots on his lungs that may be cancerous and, if they are, the only treatment option is a run of clinical trials that would keep the cancer at bay only temporarily.

Paseman has refused to sign up, because the drugs' side effects are too terrible. His cancer is slow-growing, but also merciless once it takes hold. Paseman doesn't know how long he can wait for a new treatment.

"It's a little bit like walking around with a sniper out there, ready to kill you at a moment's notice," he said. “The good news is that you're going to be able to live a full life up until the bullet hits. The bad news is at the point you hear the rifle click, basically, that's it."

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