Personalized Diagnostics

Here is another example of what we talked about today: Personalized Diagnostics, which is the result of research to create drugs to treat a large variety of cancers. After all, cancer is not a single disease, it is a collection of diseases.  Every cancer is different because it is caused by a different mutation. BRCA1 gene mutation primarily causes Ovarian cancer while KRAS gene mutation primarily causes Colo-rectal cancer. But it is more complicated that.

A single gene can have mutations in thousands of different places. Some mutations have shown no effect in cancer development, whereas other specific location mutations wreak havoc on the body.  For example, take a look at the below image. Though BRCA1 mutation causes Ovarian cancer, specific location mutation in the same gene can result in other forms of cancer. Similarly, mutations in genes other than BRCA1 can lead to Ovarian cancer.

What does this information mean?

This means that there is an astronomical number of mutation combinations possible, and we are barely scratching the surface of targeted cancer therapies.  For simplicity, say MutationA responds to Drug1 and MutationA has no response for Drug2, we can then say that Drug1 is the preferred treatment for MutationA. This means that there is potentially lot of trial and error to understand which drug works for which mutation.  Cancer research institutes have been collecting this information for a long time, with thousands of records of medical literature for cancer and its treatments. Yet we have more to work towards better targeted therapies.

Finding the gene is inefficient

Though we may have information on the best recommended therapy for a cancer, targeted therapy would mean that we need to understand the composition of the cancer. The current scenario involves the oncologist conducting a tumor biopsy followed by a single gene mutation test. Once the mutation is understood, the oncologist relies on his/her expertise or references current medical literature for the best targeted treatment. This would mean hours spent on combing through information.  Then, we have to ask, is this the best possible scenario?  What if the single gene sequencing reveals no mutation and the tumor is caused by another gene?  Gene sequencing is expensive, now which single gene mutation test should the oncologist order?  Even if sequencing a gene is affordable, running tests one gene at a time to find the mutation can be costly for the patient's life, as time is of the essence when dealing with cancer remedies. 

Making cancer treatment personal

Personalized Diagnostics can help overcome the inefficiency faced by care providers today. I'll give a brief overview:

A collaboration between IBM Watson, Quest Diagnostics, and Memorial Sloan Kettering has facilitated in the development of the Comprehensive Cancer Test called OncoVantage™. Each organization is responsible for delivering an integral component of Personalized Cancer Diagnostics. A simple diagram below shows the role of each player.

With OncoVantage™, oncologist are able to run mutation analysis for 34 genes at the same time for a considerably reduced cost. Additionally, the oncologist saves time with the report being presented with the latest medical literature referencing all the mutations identified in the tumor.

Quest Diagnostics

OncoVantage™ is a $3,000 test using the latest genome sequencing to analyzing mutations in 34 genes in one complete sequencing from a sample of the tumor biopsy. The mutation analysis along with the complete sequencing report is shared with IBM Watson.

IBM Watson

Using advanced computing power, Watson cross-references the mutation analysis with the medical literature. Its advanced cognitive system is able to present a weighted analysis for each mutation observed and present a comprehensive report.

Memorial Sloan Kettering

MSK is one among the many partnership with cancer research institutes that IBM Watson has leveraged to fight against cancer. MSK with 130 years of excellence dedicated to cancer has a real-time functioning database for cancer research called OncoKB. This vast repository provides data which include treatment methods and its effectiveness.

Oncologist can now download this report to make informed decisions. The report also provides current clinical trials which aids the oncologist to recommend programs which the patients can participate.  Saving time and offering a precise treatment comes from an enhanced diagnosis. Personalized Diagnostics still has a long way to go, but this collaboration shows us the promise of the future of targeted therapies, not just for cancer, but potentially all diseases.