Most insurers still determine coverage on a case-by-case basis, but two major payers now have coverage policies that are helpful to clinical labs that perform WES

Whole exome sequencing (WES) is not new for clinical pathologists, but it is becoming more common in a clinical setting as more physicians learn about its uses.

This is due to two reasons. First, researchers are identifying new ways to use whole exome sequencing to improve patient care. Second, the cost of whole genome sequencing continues to fall at a steady rate, making it ever more affordable to use in clinical settings.

As recently as 2009, WES was prohibitively expensive and there was little possibility that insurers would cover the cost of the test, as it was considered experimental. Now, however, evidence is mounting that it is an effective diagnostic tool. Therefore, more payers are announcing coverage for WES for an expanding number of diagnostic purposes.

One of the most cited and important uses of WES is in diagnosing Mendelian conditions such as sickle cell anemia or cystic fibrosis. As part of the larger evolution of genetics and personalized medicine, WES is just one of several relatively new tools that may help clinicians diagnose conditions that are not immediately clear. Even though the cost of all types of genetic testing has been declining, WES is still costly enough that most families cannot afford it out of pocket.

Accuracy of WES in Pathology Testing Affecting Payer’s Decisions to Cover Costs

In 2014, Reuters published an article describing how many insurers were “balking” at the cost of paying for WES. However, over time it became clearer that, in some circumstances, paying for one genetic test could be less expensive than performing multiple tests on individual genes in an effort to diagnose genetic disorders.

According to Joanne Armstrong, MD, MPH, Senior Medical Director for Aetna’s Department of Women’s Health, most insurers decide whether or not to cover WES on a case-by-case basis. Armstrong is the clinical and strategic lead for genetics at Aetna. In an interview for GeneWatch, published on the Council for Responsible Genetics (CRG) website, Armstrong noted that there are broad principles guiding coverage.

“As an overview, the services that are covered are those related to the prevention, diagnosis, or treatment of an illness,” stated Armstrong. “The information you get from covered service [that uses WES] has to affect the course of treatment; the care or treatment should be likely to improve the outcome, and that improvement should be attainable outside investigational settings—meaning it’s not just a research project, but in broad clinical practice you can see improvements; and finally, the service has to be consistent with the plan design, meaning that the customers who are buying the insurance have to have included this in their plan.”

Armstrong goes on to say that much genomic testing is still in the analytic validity stages, so standards have not yet been determined. That is changing, though, as researchers continue to find that tests incorporating whole exome sequencing are accurate.

Cigna First Insurer to Develop Policy for Covering WES

For example, Alejandro Iglesias, MD, of the Division of Clinical Genetics in the Department of Pediatrics at Columbia University Medical Center in New York, and colleagues, published a study in Genetics in Medicine in June, 2014. In the study, researchers noted that “whole-exome sequencing is feasible, has clinical usefulness, and allows timely medical interventions, informed reproductive choices, and avoidance of additional testing.”

Alejandro Iglesias, MD (above left), is Assistant Professor of Pediatrics and Director, Medical Genetics Residency Program, at Columbia University Medical Center. Joanne Armstrong, MD, MPH (above right) is Senior Medical Director for Aetna’s Department of Women’s Health and the insurer’s clinical and strategic lead for genetics. (Images copyrights: Aetna/Columbia University Medical Center.)

Alejandro Iglesias, MD (above left), is Assistant Professor of Pediatrics and Director, Medical Genetics Residency Program, at Columbia University Medical Center. Joanne Armstrong, MD, MPH (above right) is Senior Medical Director for Aetna’s Department of Women’s Health and the insurer’s clinical and strategic lead for genetics. (Images copyrights: Aetna/Columbia University Medical Center.)

In November of 2015, Cigna became the first insurer to announce a policy regarding coverage for WES. Conversely, at the same time, Cigna described whole-genome testing as experimental and unproven. Jeffrey Hankoff, Medical Officer for clinical performance and quality at Cigna, said in a GenomeWeb article, “Not all genetic tests have clinical value,” adding that the company was striving to provide “an appropriate clinical structure” for WES.

Increased Coverage Offers Opportunities to Clinical Pathology Laboratories

More recently, in April 2016, Cigna expanded its genetic counseling program for customers who are undergoing genetic testing, including WES. Cigna partnered with InformedDNA in developing its policies regarding genetics. In a press release, David Nixon, CEO of InformedDNA says the genetic counseling program exists to provide “physicians and their patients evidence-based guidance in their decision-making.”

Geisinger Health Plan is now developing a coverage policy for WES. According to an article on GenomeWeb, the coverage will “rely heavily on the judgment of the geneticist, pediatric neurologist, or developmental pediatrician. It will include patients with disorders of suspected genetic etiology but no obvious diagnosis, as well as patients with a suspected diagnosis that could involve one of several genes.” Thus, coverage of the test is subject to quite a few caveats.

As genetic science continues to develop and show that various tests, including WES, are valid, useful, and ultimately cost-saving, it is likely that more insurers will draft policies regarding coverage. As more insurers opt to cover WES, more physicians will utilize whole exome sequencing in support of patient care. That would open the door for medical laboratories that perform WES to deliver more value to physicians, patients, and payers.

—Dava Stewart

Related Information:

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

As Sequencing Moves Into Clinical Use, Insurers Balk

Will Insurance Cover Genome Sequencing?

The Usefulness of Whole-Exome Sequencing in Routine Clinical Practice

Cigna Issues Coverage Criteria for Whole-Exome Sequencing: WGS Still Not Covered

Cigna Builds on Three Years of Success, Expands Genetic Counseling Program

Geisinger Health Plan Developing Coverage Policy for Diagnostic Exomes

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