Special guest post by Austin Walters for World Cancer Day.
At the tender age of 12, Elana Simon was diagnosed with a rare form of cancer whose treatment required doctors to remove much of her liver. Now 19, she is a healthy and thriving student at Harvard University. She is very lucky: It took doctors several iterations of differential diagnoses to home in on her condition, an especially rare form of cancer called fibrolamellar hepatocellular carcinoma. Even with adequate financial resources and access to one of the best medical facilities in the world (Sloan Kettering in New York City), Elana’s story could easily have turned out tragically.
Instead, Elana is now something of a celebrity in the medical community; not for surviving her rare form of cancer, but for isolating the genetic mutation seemingly responsible for this particular form of cancer. She did this at 16 years of age in conjunction with scientists and doctors in her community. This bears repeating: Elana Simon, a non-medically trained cancer survivor, was instrumental in discovering a nearly sure-fire diagnostic method for identifying her cancer at 16!
Why cancer needs disruption
The need to accelerate cost-effective and accessible early cancer detection methods is great. While the media hype around infectious diseases around the world is justifiably loud, cancer alone causes more worldwide deaths than HIV, tuberculosis, and Malaria combined. Many of these deaths are avoidable, and most (57%) occur within low- and middle-income countries.
Current cancer detection methods are expensive, time-consuming, possibly dangerous, and almost entirely inaccessible to the world’s poor. I recently wrote an article on GE’s advances in PET/CT imaging with their India-based Discovery IQ, but while they’re moving in the right direction, expensive diagnostic imaging remains an impractical way to providing universally available, affordable, and effective early stage cancer detection for the masses.
The solution may be genetic testing.
Enabled by recent advances in bioinformatics, genetic detection of cancer holds promise in two interrelated ways. First, more and more forms of cancer will continue to be sequenced à la Elana’s example above, eventually providing a standard reference base for an individual’s risk of cancer. From now on, when a young patient exhibits symptoms that may indicate fibrolamellar hepatocellular carcinoma (along with a host of other possible conditions), a genetic test might provide critical data.
Second, scientists are identifying with greater precision the genetic biomarkers released into the bloodstream by growing tumors. Called ctDNA and CTCs, these biomarkers can strongly indicate the need for definitive diagnostic tests (biopsy), and eventually the need for immediate therapy once we learn to filter out the statistical noise.
In fact, genomic sequencing and biochemical assays are replete with variation and noise that, today, make them unreliable diagnostic resources. Last Friday’s version of the International New York Times featured an opinion piece from Dr. Michael J. Joyner calling this approach ‘moonshot medicine,’ and claims that “The connections between genes and disease remain murky. Precision medicine is likely to fall short of expectations.”
However, I believe Indian IT entrepreneurs can change that. By partnering with the scientific community, these talented entrepreneurs might begin building the kind of data analytics platform required to place an individual’s genetic data in the context of growing global databases, such as Foundation Medicine’s, or other emerging Graphical Information Systems (GISs) such as The Cancer Genome Atlas Pan-Cancer project.
India has several advantages qualifying it to defeat cancer. First, a multitude of low-cost tests are emerging that are suitable for emerging markets like India. Representatives include the Swasthya Slate tablet, CellMax Life, solar DNA tests for cancer, paper-based urine tests for cancer, and single molecule gene tests by companies like RainDance.
With Rapid Diagnostic Tests (RDTs) emerging for genetic cancer detection, what’s required next is a platform to storing, analyzing, and distributing the data in user-friendly fashion to all stakeholders, including doctors and patients. Again, Swasthya Slate is a good example of such a platform.
With early, low-cost detection, the need for training and ongoing monitoring becomes important. What Jana Care is doing with their Habits Program for diabetes is another good template platform for how to aid early stage cancer patients in managing their condition.
India’s largest asset in building an effective genomic diagnostic platform for cancer is the sheer number of patients requiring low-cost tests. If Indian entrepreneurs succeed creating a product that’s affordable and effective for every patient in India, this product will sweep the world!