Genomics and Personalized Medicine – Part I

Since 2003, scientific advances in knowledge about the human genome have been nothing less than extraordinary. The National Institutes of Health, under the leadership of Dr. Francis Collins, completed the “Human Genome Project” in that year. The clinical application of some of that work continues at a rapid pace.

 

This two-part article provides a basic and intentionally high-level description of genomics and personalized medicine, coupled with a brief overview of the insurance coverage issues currently faced by providers and patients.

 

In 1974, Lewis Thomas, M.D., wrote the book The Lives of a Cell, in which he described the three stages of medical technology. The first stage is “nontechnology,” a supportive therapy used to care for patients with a disease. This stage does not involve measures directed at the underlying mechanism of the disease.

 

The second stage of medical technology, described by Lewis, is “halfway technology.” This stage represents actions taken to compensate for the effects of certain diseases, many of which are incapacitating. Lewis aptly describes this stage as making up for disease or postponing death. Thus, certain cancer treatments such as surgery, radiation therapy and chemotherapy are “halfway technology” because they are directed at existing cancer cells, but do not address the mechanism(s) that make cells cancerous.

 

The third, and most relevant, stage of medical technology is the decisive technology of modern medicine, what Lewis calls “high technology.” For example, use of modern immunization methods for viral diseases and antibiotics for bacterial infections are “high technologies.” Those medical interventions are the result of a genuine understanding of the underlying mechanism of disease. Lewis wrote this book in 1974; many observers believe that in 2016—and beyond—precision medicine is the modern equivalent of “high technology.”

 

DNA is the source, or code, for how a single cell develops into multiple types of cells within a complicated entity such as a human. Each human consists of trillions of cells that represent as many as 300 major cell categories that perform different functions. Cell development and their functions are determined by DNA information.

 

There are six billion base pairs of DNA in human cells. The entire collection of those DNA base pairs is the human genome. Our genome contains about 20,000 genes that code for proteins. Proteins carry out many of our biological functions, or do most of the work in our cells. Certain human genes and the proteins they encode are crucial as they relate to personalized medicine.

 

For example, certain genes normally produce proteins that contribute to an individual’s well-being. However, an abnormal gene can result in a protein that is detrimental to an individual and cause disease, such as cancer. Certain therapeutics – often called “actionable therapies” – are available for use against abnormal gene and protein development, a type of “variant,” in genomics terms.

 

However, there are a limited number of proven actionable therapies. In other words, a gap exists between available knowledge and current medical practice. This gap highlights the importance of genetic testing as a powerful tool for the diagnosis and treatment of cancer. In short, genomic cancer medicine, or personalized medicine, unites the right patient, the right treatment, the right dosage and the right insurance coverage.

The Medicare statute describes categories of healthcare items and services that are covered, including diagnostic tests. Those categories reflect generally accepted terms and definitions, as understood by the insurance companies and providers. In many cases, the patient isn’t as clear on terminology of a covered service. In the genomic medicine arena, there is an interesting coverage question centered on what is or is not diagnostic. Currently, prognostic tests are not covered. Medicare requires a diagnostic test to contribute to the diagnosis or management of disease. Thus, screening tests and tests that are performed when there are no personal signs or symptoms, typically are not covered.

 

Further, a covered benefit category, to be reimbursable, also must be medically necessary. That is, under Medicare, an item or service must be reasonable and necessary for the diagnosis or treatment of illness or injury or to improve the functioning of a malformed body member. This definition has not changed since 1965. Medicare typically requires evidence of safety and efficacy (for example, FDA labeling) to establish medical necessity.

 

Private health plans typically base medical policies, that drive their payment policies, on reliable, reproducible, clinically valid tests. Their concerns focus on the variations between laboratories, molecular diagnostic test platforms and test interpretations. Those concerns often result in conservative coverage and payment policies for such tests. 

 

The combination of a 1965 Medicare coverage and reimbursement paradigm and private payers’ insistence on demonstrated, clinical utility of genomic tests creates an environment of reimbursement uncertainty that calls for attention. That, in part, explains the timeliness and importance of efforts coming from Washington, D.C. Those efforts include the 2020 Moonshoot to cure cancer and other advocacy efforts, which will be discussed in the second installment of this article.