Diagnostics: Realizing Personalized Medicine

Recently Domain spoke with someone we consider a true visionary in the diagnostics field: Mara Aspinall. Ms. Aspinall has been a leading force in the industry for 20 years, having served as president of Genzyme Corporation, president and CEO of Ventana Medical Systems and a co-founder and current director of the European Personalized Medicine Association.

Ms. Aspinall shared with us the history of diagnostics, beginning with physicians literally relying on their five senses to detect disease in a patient, and leading up to her vision of Diagnostics 5.0 – the vision of truly personalized and precision medicine that Domain shares and is actively working to create.

We all know that the most expensive drug is the one that does not work. But how do we know whether or not a drug will be effective? The answer, of course, lies in developing accurate diagnostics. As Ms. Aspinall pointed out, drugs “become” efficacious only when diagnostics are available that allow doctors to use them effectively. 

For example, antibiotics are not much use without the ability to identify the source of infection; blood thinners are not helpful without coagulation tests. Perhaps the most cogent example of paired therapeutics and diagnostics is the treatment of HIV/AIDS, in which infected individuals in the developed world now enjoy close to normal life expectancy due not only to antiviral drugs but also to molecular diagnostic tests that monitor viral loads and drug efficacy.

So, what will the future of diagnostics look like and how will we get there?

First, we need more investment in biomarkers and companion diagnostics. During our discussion, Ms. Aspinall showed compelling data demonstrating that new oncology drugs are twice as likely to be effective if they are associated with a biomarker than if they are not. Domain has been investing in the biomarker space for nearly a decade, and companies in this space figure prominently in Domain Partners VIII. 

Second, we need to develop new tests that inform and direct medical decisions, monitor disease progression and evolution, and provide results in real time. In Domain Partners VIII, we have made important investments not only in diagnostic companies that match our vision for the future, but also in companies advancing enabling technologies that can unlock areas important for diagnostics.

Directional, informative testing

• Applied Proteomics is developing a blood test to identify patients at relative risk of having colorectal cancer and help doctors decide which patients need a colonoscopy
• Veracyte has a commercially available test to indicate whether or not to perform thyroidectomy in patients with suspected thyroid cancer – it is estimated that over 15,000 patients have been saved from surgery
• Epic Sciences develops new liquid biopsy tests for improved therapy selection and early drug resistance detection 

Diagnostics that monitor patients’ condition

• Ariosa Diagnostics and Sera Prognostics have commercially available non-invasive prenatal tests to monitor fetal health risks and preterm pregnancy complications

Detection of disease in real time setting

• Astute Medical has a commercially available test to detect acute kidney injury in acute, hospital setting
• Xagenics is developing point-of-care diagnostic tests

Availability of tools that enable development of new tests

• BioNano Genomics has developed a commercially available platform to rapidly identify structural variants for human disease and genomics research and can further be used to develop new diagnostic tests

"The primary sources of patient specific information which guide healthcare decisions are diagnostic products and services."

Ultimately, Domain is focusing on finding the best ways to deliver the best care.  In doing this, we can create great diagnostic companies that not only help patients but also provide substantial and sustainable value to the healthcare system.