Conference Review


Clinical Genome Conference 2014: Sick Care vs Health Care in America


he 3rd annual Clinical Genome Conference (CGC), held June 10–12 in San Francisco, CA, contrasted today’s limited utiliza- tion of genomic testing for disease with its expected potential. Speakers pointed out that business conflicts must be resolved if the technology is to meet society’s expectations. In contrast, technical is- sues, while also formidable, seem more solvable. Lecturers mapped out the battlefield with a balanced exposition and analysis of the conflict- ing positions of various stakeholders.


T


The fundamental conflict: America has a sick-care system, not a health- care system.


The business of clinical genomics The conflict between current practice and potential started with the


opening keynote lecture by John Pfeifer, MD, Ph.D. (Washington University [WU], St. Louis, MO), who focused on the very restrictive constraints imposed by payers on the utilization of genomic testing.


Payers insist that an assay must be relevant to guiding therapy to qualify for payment. Their mantra: If there is no treatment, then why test for it? So they will not pay.


Another restriction: To qualify for payment, an assay must be based upon accepted science. It cannot be research in progress. It must be generally accepted. Even in genomics, “generally accepted” can take decades to establish, especially if the payers actively work against early adoption. In the meantime, people suffer and die. Investigational testing is also ruled out.


Asymptomatic testing of family members, even if they may be carriers, is usually excluded from payment. This includes prenatal testing for a known mutation in the family. In contrast with most clinical assays that focus on the sick, genomics can also predict predisposition spanning multiple generations. Payers exclude any other stakeholder, unless specifically mandated by law.


From Dr. Pfeifer’s lecture and others, it is clear that the payers (insurance companies) have adopted restrictive payment philosophy and rules that conflict with public health and welfare. They appear to be motivated by short-term cost reduction. Applying their rules to genetic testing pre- cludes society from deriving most of the expected benefits of genomics, particularly when it can be applied predictively.


Dr. Jill Hagenkord1 of 23andme (Mountain View, CA) cited two examples


of payer myopia where the FDA and payers are fighting on a common front: 1) Familial hypercholesterolemia (FH) affects 600,000 Americans. Current clinical testing misses about 85% of the affected patients. FH is caused by mutations in LDLR, APOB, LRLRAP1, and PCSK9 genes. Statins are effective in reducing coronary heart disease (CHD) in FH patients.


Despite the fact that FH testing meets WHO criteria for screening, American payers will not consider paying for screening. 2) Hereditary cardiac conditions refer to genes that predispose a person to sudden cardiac death, often from arrhythmias. Treatment includes lifestyle changes, defibrillators, beta blockers, and other antiarrhythmic drugs.


Since the payers are not responsive, Dr. Hagenkord favors direct-to- consumer tests. Her employer offers exome sequencing for a large exome panel for under $100. Due to an ongoing conflict with the FDA over the issue of diagnostics, the test results are limited to “hereditary studies” in the U.S.A. However, the raw genomic information is provided to the consumer. She reported that several firms offer genomic interpretation programs and services independently. If patients are interested, they can send their raw data to the interpretation firms for evaluation of clinical risk factors.


How much will the payer pay? Many of the genetic tests are so new that there is no generally accepted


payment schedule. According to Dr. Pfeifer, it costs $7500 for Washington University’s gene panel. Payments vary, but WU usually receives pay- ments in the range of $4000–$5000. To date, over 95% of the invoices are paid, but at a reduced rate. Generally, there are many inquiries from the payers about the clinical validity and utility of an assay. Payers refuse to acknowledge value or pay for “personal utility” of the information such as reproductive or life planning.


The new physician payment law, signed April 1, 2014, recognizes “Advanced Diagnostic Tests” (ADTs) for laboratory-developed assays. The payment codes and payment levels are not yet available. The expecta- tion is that ADTs will have a three-quarter grace period where the lab can set and invoice at its list price without prior review. During the next three calendar quarters, the Centers for Medicare & Medicaid Services (CMS) will review the data on cost, complexity, value, and competition, and set a payment rate. Excess charges in the first three-quarters are expected to be subject to “claw back” provisions.


After the reimbursement rate setting by CMS, the payment law decrees a rate reduction of 15% per year in the first two years and then 10%/ year for the next three. This is a compounded reduction of 48% starting in the sixth year.


But who are the responsible payers representing? Cancer is multivari- ant and poorly understood. Consumers are individually insured. Many Americans pay the payers directly, or employ the insurance companies through intermediaries such as Medicare, etc. Payers should be our servants, not our masters. Restricting information-gathering and flow is inconsistent with an individual’s need to know in order to manage his or her life. Modern medicine is built around the 5 Ps—Predictive, Preventive, Personal, Participatory, and Philanthropic.1


AMERICAN LABORATORY • 30 • SEPTEMBER 2014


by Robert L. Stevenson


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