Biomarkers and the Path to Medicine 3.O

Issues & Policies

The Connecticut Bioscience Growth Council and its members—emerging biotechs, legacy biopharma companies and research institutions—often advocate for investment in life sciences research and development by showing how R&D is the way out, not the cause, of the healthcare cost spiral.

There are many examples: cardiovascular medications, like statins and PCSK9 inhibitors, which have dramatically reduced the incidence of heart attack and stroke and thereby spending on surgeries and hospitalizations, or the drugs that cure hepatitis C and make hugely expensive liver transplants unnecessary.

This legislative session, we’ve worked to build support for increased utilization of biomarkers to improve healthcare delivery and reduce cost (see the informational hearing presented by CBIA and the American Cancer Society).

There’s a vast amount of information in genetic material that can now be isolated from small samples taken from blood or tissue and that correlate to specific diseases and conditions—these data points can serve as a tag or “biomarker” for a disease or condition. 

The term “biomarker” covers a broad range of measures that capture what is happening metabolically in a patient.

Biomarkers Help Identify Disease

Blood tests for low density lipoprotein—LDL, or what we often describe as “bad” cholesterol—is, broadly speaking, a biomarker for heart disease and, specifically, a biomarker for a person’s response to cholesterol lowering drugs.

Today, biomarker technology is all about gene sequencing—essentially a way to print out the instruction manual for a person’s genetic makeup and identify biomarkers for any mangled instructions. 

Instructions found in our genes determine everything—how tall you’ll be, your eye color, the diameter of the arteries that carry blood from your heart to your lungs.

Humans have 22,000 genes, and when there’s an error in any part of those instructions, disease can be the result. 

Biomarker technology is all about gene sequencing—essentially a way to print out the instruction manual for a person’s genetic makeup.

To simplify dramatically, our genetic code is written in a four-letter alphabet—ACGT—and if there’s an error in the spelling, what unfolds from the instructions can be something that causes disease rather than something that creates normally functioning tissue and metabolic processes.

An example might be a gene to make a heart valve that should be “spelled” H-E-A-R-T but, instead, an error occurs and it reads H-U-R-T.

The ability to examine an individual’s entire genome quickly—rapid whole genome sequencing or rWGS—has become state of the art when time is of the essence, as when a newborn lies in intensive care, very, very sick, but no existing standard test can explain what’s causing the baby’s illness.

This is when it is critical to see what’s going on genetically, to find the error in the genetic instructions to identify a biomarker for one of the 7,000 rare diseases, and quickly begin effective treatment.

Speedy Diagnosis, Less Costly Treatment

It’s important to make greater use of biomarkers because they speed diagnosis and refine treatment options, and in the process make medical treatment more efficient and less costly.

Biomarkers do this in at least four ways.

First, biomarkers facilitate prediction of disease. Once predicted, once high risk is known, steps can be taken to prevent disease onset.

Paying for prevention of a disease is far cheaper than paying later and longer for treatment of a disease.

Second, biomarkers facilitate early, definitive diagnosis. Shortening the time it takes to figure out what a patient is suffering from—shortening the time it takes for a clear diagnosis—does away with the expense and time of trial and error with much less precise tests. 

Making diagnosis of disease less of a long, circuitous, uncertain odyssey and more a direct, straightforward path to understanding saves the healthcare system a great amount of money. 

Paying for prevention of a disease is far cheaper than paying later and longer for treatment.

Of course, early diagnosis is a far better state of affairs for patients and caregivers struggling to figure out what ails them.

Third, biomarkers allow treatment to be personalized to a patient’s individual form of disease. There are, for example, several forms of cystic fibrosis, each involving a different combination of genetic mutations. Treatment protocols differ depending on the type of CF.

Biomarkers free both the patient and the healthcare system from the time, discomfort and cost of therapies that can be identified as not useful for treatment of a patient’s individual form of disease.

Finally, biomarkers are extremely useful in monitoring the effectiveness of treatment and disease progression.

Patients, and those treating them, can move on from treatments that are clearly not working. And treatments that have done their job, that have worked, can be wound down and often terminated. More than half of all cancer medications now involve a companion biomarker test.

Whatever the modest cost of biomarker testing, it’s well worth it. Biomarkers make healthcare more efficient and therefore less costly.

Noah Built the Ark Long Before It Rained

Developing biomarkers, and making greater use of them, looms large in a recently published book, Outlive, by Peter Attia.

Attia, a medical doctor, explains how we have progressed from Medicine 1.O—understanding that disease isn’t caused by wrathful gods—to Medicine 2.O—where we’re good at treating binary disease, you have or you don’t, and you treat it when something acute happens, like a tuberculosis infection or a gunshot wound.

He argues that we need to break through to Medicine 3.O.

Biomarkers are about Medicine 3.O.

In Medicine 3.O the goal is not to patch people up and get them out the door, removing their tumors and hoping for the best, but rather to prevent the tumors from appearing in the first place, or avoid the first heart attack, or divert the path to Alzheimer’s.

Attia observes that “Noah built the ark long before it began to rain.”

In a similar vein, he quotes Bishop Desmond Tutu: “There comes a point where we need to stop just pulling people out of the river. We need to go upstream, and find out why they’re falling in.”

Biomarkers are about Medicine 3.O. Ultimately, they’re about prevention so there’s no need for treatment.  They’re about going upriver to stop the guy from throwing people in the river.

Paul Pescatello is the executive director of CBIA’s Bioscience Growth Council and chair of We Work for Health Connecticut. Follow him on Twitter @CTBio.


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