In what could be a major boon to clinical laboratories and healthcare providers, researchers found that fears of rampant testing and ballooning spending due to results of whole-genome sequencing may be less of a concern than opponents claim

Clinical laboratory testing and personalized medicine (AKA, precision medicine) continue to reshape how the healthcare industry approaches treating disease. And, whole-genome sequencing (WGS) has shown promise in helping in vitro diagnostic (IVD) companies develop specific treatments for specific patients’ needs based on their existing conditions and physiology.

At first blush, this would seem to be a good thing. However, there has been controversy over cost and unintended consequences after patients who received their test results experienced negative encounters with physicians and genetic counselors. The impact on their lives and on their caregivers have not always been positive. (See Dark Daily, “Consumers Buying Genealogy Gene Sequencing Tests in Record Numbers; Some Experts Concerned Data Could Be Misinterpreted,” May 14, 2018.)

Nevertheless, WGS development and the ensuing controversy continues. This has motivated researchers at Brigham and Women’s Hospital (BWH) in Boston to engage in a study that compares the upfront costs of WGS to the downstream costs of healthcare, in an attempt to determine if and how whole-genome sequencing does actually impact the cost of care.

Are Doctors Acting Responsibly?

The MedSeq Project study, published in Genetics in Medicine, a journal of the American College of Medical Genetics and Genomics, involved 200 people—100 of them healthy, the other 100 diagnosed with cardiomyopathy. Roughly half of each group underwent whole-genome sequencing, while the other half used family history to guide treatments and procedures. The project then collected data on downstream care costs for the next six months for each group to compare how whole-genome sequencing might impact the final totals.

“Whole genome sequencing is coming of age, but there’s fear that with these advancements will come rocketing healthcare costs,” lead author Kurt Christensen, PhD, Instructor of Medicine in the Division of Genetics at BWH, stated in a press release.

“Our pilot study is the first to provide insights into the cost of integrating whole-genome sequencing into the everyday practice of medicine,” noted Kurt Christensen, PhD, lead author of the Brigham and Women’s Hospital study. “Our data [provides] reassurance that physicians seem to be responding responsibly and that we’re not seeing evidence of dramatically increased downstream spending.” (Photo copyright: ResearchGate.)

Clinical Laboratory Testing Largest Difference in Cost/Services Rendered

Within the healthy volunteer group, patients who based treatment decisions solely on their family medical history averaged $2,989 in medical costs over the next six months. Those who received WGS incurred $3,670 in costs.

Services also remained relatively consistent between both groups. The WGS group averaging 5.5 outpatient lab tests and 8.4 doctor visits across the period, while the family history group averaged 4.4 outpatient lab tests and 6.9 doctor visits.

Within the cardiology patient group, however, the dynamic flipped. WGS recipients averaged $8,109 in spending, while the family history group averaged $9,670. Study authors attribute this to the possibility of treatments while being hospitalized for concerns unrelated to the study.

When removing hospitalizations from the data set, the WGS group averaged $5,392, while the family history group averaged $4,962—a result similar to that of the healthy group.

Utilization of services was also similar. The WGS group averaged 7.8 doctor visits, while the family history group averaged 7.2 visits. However, the outpatient lab testing spread was wider than any other group in the study. WGS patients averaged 9.5 tests compared to the 6.5 of the family history group.

Unanswered Questions

In their report, the study’s authors acknowledged a range of questions still unanswered by their initial research.

First, the project took place at a facility in which physicians were educated in genetics, had contacts familiar with genetics, and had the support of a genome resource center. The level of experience with genetics may also have prevented additional spending by tempering responses to results.

Although the whole-genome sequencing that took place during the project uncovered genetic variants known to or likely to cause disease within the healthy population, this did not trigger the wave of testing or panic many opponents of genetic sequencing predicted.

Authors also acknowledge that a longer, larger study would offer more conclusive results. Researchers are planning for a longer 5-year study to verify their initial findings. However, study co-author Robert Green, MD, Director of the Genomes2People Research Program at BWH told STAT, “… downstream medical costs of sequencing may be far more modest than the common narrative suggests.”

Further Research Needed

The BWH researchers acknowledged that monetary cost is only one facet of the impact of genetic sequencing results. “Patient time costs were not assessed,” the study authors pointed out. “Nor were the effects of disclosure on participants’ family members, precluding a complete analysis from a societal perspective.”

Lastly, they noted that while the sample size sufficed to verify their results, diversity was lacking. In particular, they mentioned that the participant pool was “more educated and less ethnically diverse than the general population.”

The cost of genetic sequencing and similar technologies continue to drop as automation and innovation make the process more accessible to clinicians and healthcare providers. This could further impact longer studies of the overall cost of sequencing and other genetics-based tools.

For medical laboratories, these results offer proof to both payers and physicians on the value of services in relation to the overall cost of care—a critical concern, as margins continue to shrink and regulations focus on efficiency across a broad spectrum of healthcare-related service industries.

—Jon Stone

Related Information:

Genetic Sequencing: Low Rate of Downstream Costs Demonstrate It’s Worth the Investment

Getting Your Genome Sequenced Might Not Make You Spend More on Health Care

Sequencing Patients’ Genomes Might Not Break the Health Care Bank, Study Finds

Studies Show How Clinical Whole-Exome Sequencing May Forever Change the Future Practice of Medicine while Giving Pathologists a New Opportunity to Deliver Value

Consumers Buying Genealogy Gene Sequencing Tests in Record Numbers; Some Experts Concerned Data Could Be Misinterpreted