BIO Convention – I Speculate on the Single Diagnostic Test You'll Ever Need – Whole Genome Sequencing.

Diseases used to be caused by evil spirits, and later illness was blamed on unbalanced humors. A considerable advance was made when the germ theory of disease was widely accepted in the late 19th century. As modern sanitation, vaccination, and antimicrobials drove back the infectious diseases and life expectancies lengthened, other illnesses, such as cardiovascular disease and cancer, became more salient. At the BIO Convention, Cecilia Schott, the business development director for Astra Zeneca, noted that modern molecular medicine has redefined cancer. Not so long ago, cancers were classified based on organs affected and location in the body, but now they are defined by pathways and molecular targets. Consequently, molecular diagnostics are becoming central to figuring out the best ways to treat cancers and other diseases.

For example, Mitch Raponi, the director molecular diagnostics at the biotech startup Clovis Oncology explained how his company is using companion diagnostics to guide them in treating a specific version of pancreatic cancer. Currently, the standard of care is a chemotherapy drug called Gemcitabine. The drug enters a cancer cell through a specific surface receptor hENT1. However, it turns out that hENT1 expression is low in 40 to 50 percent of pancreatic tumors which means that the drug is not very effective. Clovis is using a modified version of Gemcitabine by adding a lipid molecule enabling it to enter pancreatic cells with low hENT1 expression. The company is in the midst of Phase IIb clinical trials. If its technology proves out, when the company's diagnostic test reveals that a specific patient has low hENT1 expression, then physicians will treat pancreatic cancer them with Clovis' version of Gemcitabine.

Joseph Monforte, the chief scientific officer for AltheaDx, stated flatly, "All parties now agree that companion diagnostics are required for oncology." Another example of how diagnostics are changing the way that cancer is treated was offered by Wayne Klohs, vice president and global therapeutic area leader at Astellas Pharma. As others noted at the convention, Klohs too pointed out that about half of patients fail to respond to medicines in the manner intended. Astellas is working on a treatment for a type of acute myeloid leukemia (AML) in which patients express the FLT3 mutation. The 30 percent of AML patients who have this mutation do not respond well to current chemotherapy treatments. Astellas' diagnostic is critical for identifying FLT3 patients.

I suspect that coupling specific diagnostic tests with specific drugs is just a passing phase. Why? I dropped by the Knome booth on the convention floor to talk a bit about their whole genome interpretation service. For just under $5,000 the company has a person's whole genome sequenced and then interprets its therapeutic and other aspects using the latest science. The company sends along a hard drive to each person containing all the information about the person's genome along with the company's annotations of what is scientifically known about it and software to navigate the data. The company offers periodic updates to customers. As I see it, some day in the not-too-distant future, each of us will carry a memory stick with all our genomic information (or better yet store it somewhere online where we can get to it whenever we want). At which point specific diagnostic tests will no longer be needed since companies Knome will provide us with any information that we or our physicians need to know about how various medicines are likely to affect our specific maladies.

Corrective update: H&R commenter sure points out that FLT3 is a somatic mutation which would not be detected by prior full genome sequencing. This means that specific diagnostic tests would still need to be coupled to specific therapies.

Up Next: Biotech crops and biosecurity.