Cancer: The genetic cure in Indiana

This story from WNDU 16 is being published here as a courtesy for readers of Grand Challenges News.

Imagine a world without cancer. Could genetics be the cure?

In the not so distant future, precision medicine may prove to be the cure we are all waiting for. Indiana University School of Medicine is at the forefront of that research, using a person’s own genetic makeup to individualize cancer treatment.

Beyond Indiana University's historic Sample Gates in Bloomington, researchers have launched a $120 million initiative to cure cancer.

Launched just last year, the Precision Health Initiative's ambitious goal is to cure one cancer.

The director, Dr. Anantha Shekhar, insists this is the future of medicine. What are they doing?

IU's Simon Cancer Center and Riley Hospital for Children are decoding genetic variations leading to major breakthroughs in medicine.

Dr. Shekhar explains, “We are finally able to use the genetic information in a person to actually anticipate what might be the best treatment for them. “

How? By taking cancer tissue from a person and reading their entire genetic code. In technical terms, sequencing the genome.

In layman’s terms, think about our alphabet of 26 letters that make up words. Then imagine that each person’s genetic code has 30,000 genes and three billion alphabets. And just like spelling mistakes in words, Shekhar says researchers are reading this sequencing and looking for specific errors in that spelling. “If there are errors, then those kinds of mistakes in the alphabet will create mutations which then cause cancer. We can get a person's tumor's genetic code read within a week and know from that, what specific mutations have occurred.”

In the first year of the Indiana University initiative, that genetic sequencing has led to almost miraculous stories which Dr. Shekhar has shared with medical students at IU, Notre Dame and around the state.

Stories of an Indiana man and an Indiana child whose families were both told to call in hospice and get their affairs in order.

A 6-year-old girl he calls Emma complained of stomach pain, like many children do.

He explains that Riley doctors found much more. “She ended up getting a CAT scan and eventually an MRI. Turns out she had a very rare form of ovarian cancer.”

The cancer had spread from her ovaries throughout her body, and Emma did not respond to chemotherapy, so Riley doctors sent her cancer tissue for genetic interpretation. “What it turns out is that they found a very specific mutation in that tumor which is seen in some rare forms of lung cancer in people who smoke for years.”

Riley got permission from the FDA to treat Emma with a newly released lung cancer drug with stunning results. “They treated her with this compound, and within four weeks the tumor started melting away and within eight weeks she was completely free of all tumor," Shekhar says. "She is still disease free and happily going to school.”

The second IU Precision Health success story is of a 62-year-old man diagnosed with thyroid cancer. Dr. Shekhar calls him Mr. Smith. His cancer had spread into his chest cavity and lungs. “They were told to really finish all of his affairs and get into hospice. And he was told he probably had six to eight weeks to live.”

Instead, Mr. Smith visited the IU Simon Cancer Center, where tissue was taken and his genetic sequencing was studied. The results showed his tumor was overexpressing a protein which needed a different treatment. Again, doctors got FDA approval to treat him with a drug normally used for aggressive colon cancer. “We were able to use the checkpoint inhibitor in this case, and similarly within six weeks all of his tumors started to disappear, and he's been tumor free for almost two years.”

So what does this mean for you and me? Is genetic testing readily available? Dr. Shekhar says right now, “It's probably more at research hospitals. If anybody has diagnosis of any type of cancer, they should definitely ask for possible sequencing of their tumor and possible new ways of looking at the diagnosis.”

Shekhar says the big challenge for oncologists right now is reading the code results and finding the right treatment. “That requires a very high level of sophistication, a very high level of computer-based diagnostics, and that is why you go to a research hospital.”

Proud of what their Precision Health Initiative meant for little Emma and Mr. Smith, Dr. Shekhar expects it will become standard practice in the next two to five years for all oncology. But will we ever get that cure for cancer? “Well, that's what we're working on. It’s a very exciting time to be in medical research. It is almost unbelievable, these are almost incredible, miraculous stories," Shekhar says.

What's the cost. A general test runs between three to five hundred dollars. The testing done for Emma and Mr. Smith would be a 1400 gene panel which could cost about $2 thousand dollars. Dr. Shekhar says a full genome sequencing which IU uses involves 25,000 genes at a cost of nearly $15 thousand. Some insurance companies will pay for the testing and Dr. Shekhar believes with the breakthroughs they are seeing many more will get on board.

They are also using genetic sequencing to try and find new treatments for other diseases like Parkinson's and ALS and as a way to try and prevent chronic diseases like heart disease and high cholesterol.