A Simplified Approach to Genetic Testing

Genetic testing is a category of testing that is used to describe—often incorrectly—the services offered by dozens of labs. Currently, genetic and genomic testing is the fastest growing sector of medical lab testing. There are about 6000 genetic panels and 54,000 individual tests; perhaps creating more headaches for health plans than any other issue in the past decade. The number, complexity of the types of tests, coding and the indications are enough to overwhelm most managed care medical directors.

There are a number of patient-specific issues affecting the genetic testing industry that include:

• Patient identification (ie, finding the right patients with a clear clinical utility);
• Guiding the patient through the decision to get tested;
• Medical policy fit (ie, determining health plan eligibility for coverage);
• Interpreting results and counseling patients to appropriate follow up; and
• Price transparency to avoid leaving a patient with a huge bill.

This is where Counsyl, a South San Francisco company, comes in. Since its inception, Counsyl has pledged to make genetic testing simple by focusing on diseases for which advanced knowledge makes a difference in ultimate health outcomes. And their focus has been rewarded; they have done testing on about 550,000 different people and in the process served more than 6,000 health care professionals at their CLIA-certified, CAP-accredited and NYS CLEP-permitted clinical laboratory.

They offer three types of testing:

• Carrier testing for about 100 genetically transmitted diseases for couples planning a family;
• Informed pregnancy screen done at 10 weeks to detect a variety of conditions including trisomies (i.e. Down Syndrome), sex chromosome related conditions (i.e. Klinefelter syndrome), as well as a number of defined microdeletions affecting newborns; and
• Inherited cancer genetic screens that looks for 24 different abnormalities (including the much discussed BRCA mutations) that affect cancer development and prognosis.

These tests are done as panels at one of the world’s most automated and largest genetic labs. They pride themselves on price transparency. Additionally, due to the highly automated environment, they typically can offer these tests at a much lower price than their competitors.

They have a robust payer contract portfolio (with access to ~230 million lives) and only perform tests upon the order of a physician; thus, they avoid the direct-to-consumer issues that have plagued a few other labs over the last several years.

The company has focused on the patient experience. They start by using their FirstCare tool to identify eligible patients and prepare them for testing. They then provide a nearly precise estimate of the patient’s out-of-pocket cost using both text and email communication so patients do not end up with a surprise bill. They provide mobile-phone based education; a convenient network of blood draw stations; counseling (pre and post-test); easy to understandable reporting of test results; and, perhaps most importantly, on-demand access to highly trained, certified genetic counselors who have spent 10,000 hours helping patients.

Genetics made easy is a novel concept that addresses a need of health plans, physicians, and patients alike.