News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
Sign In

Two New York City Hospitals Join New Genetic Study to Perform Whole Genome Sequencing on 100,000 Newborn Babies to Search for 250 Rare Diseases

Goal is to demonstrate how whole human genome sequencing of newborns can deliver important diagnostic findings associated with 250 genetic conditions

Clinical laboratory testing and genetics are moving closer to the delivery room than ever before. In the largest study of its kind in North America, genomic scientists plan to supplement traditional screening for inherited diseases—traditionally performed on a blood sample taken shortly after birth—with whole genome sequencing (WGS) on 100,000 newborns in New York City during their first five years of life, LifeSciencesIntelligence reported.

Conducted by genetic scientists at NewYork-Presbyterian (NYP) and Columbia University, in collaboration with genetic company GeneDx, a wholly-owned subsidiary of health intelligence company Sema4 (NASDAQ:SMFR), the genetic research study, called GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns), will screen newborn babies for 250 rare diseases that are generally not tested for.

The GUARDIAN program will “drive earlier diagnosis and treatment to improve the health of the babies who participate, generate evidence to support the expansion of newborn screening through genomic sequencing, and characterize the prevalence and natural history of rare genetic conditions,” according to a Sema4 news release.

Robert Green, MD

“The appetite for this is growing. The awareness of this is growing. We all see it as inevitable,” medical geneticist Robert Green, MD, at Brigham and Women’s Hospital and Harvard Medical School told USA Today. “We are grossly underutilizing the life-saving benefits of genetics and we have to get past that.” Clinical laboratory leaders understand the value of early detection of disease and subsequent early treatment. (Photo copyright: Harvard Medical School.)

Improving Health of Babies Through Early Detection of Disease

GUARDIAN aims to use WGS to identify conditions at birth that can affect long-term health and subsequently enhance treatment options and possibly prevent disability or death.

The 250 different diseases GUARDIAN will be screening for typically strike young children. They are mostly rare conditions that:

  • have an onset before five years of age,
  • have a greater than 90% probability of the condition developing based on the genetic result,
  • have effective approaches and treatments that are already available, and/or
  • have a well-established natural history of the condition.

“We’re entering the therapeutic era and leaving the diagnostic era,” Paul Kruszka, MD, Chief Medical Officer at GeneDx told USA Today. “This potentially has the opportunity to change the way we practice medicine, especially in rare disease.”

Some Parents Reluctant to Agree to Genetic Testing

Green and his research team first began analyzing the genetic sequences of newborns back in 2013. They believe the costs of performing infant WGS is worthwhile because it can improve lives. However, Green also recognizes that some parents are reluctant to agree to this type of genetic testing due to concerns regarding privacy and the fear of discovering their baby may have an illness.

“You’ve gone through all this pregnancy and you’re sitting there with a healthy baby (and I’m) offering you the opportunity to find out something that’s devastating and terrifying,” he told USA Today. “How fun is that?”

Green continued. “We can respect people who don’t want to know, but also respect people who do want to know. Some families will say ‘I treasure the precious ignorance.’ Others will say ‘If I could have known, I would have poured my heart and soul into clinical trials or spent more time with the child when she was healthy.’”

WGS Screening Identifies Undiagnosed Illnesses in Newborn’s Family

The scientists also found that performing WGS in newborns can detect diseases in the infants as well as unknown illnesses in the families of those babies. According to Kruszka, many parents often seek a diagnosis for a rare disease present in their children for several years. Since many common diseases develop as a result of certain combinations of genes, if illnesses are diagnosed at birth, it could extradite the treatment process, prevent complications, and provide better health outcomes for patients.

“We are relentlessly focused on accelerating the adoption and use of genomic information to impact the lives of as many people as possible, particularly newborns and children,” said Katherine Stueland, President and CEO, Sema4, in the Sema4 news release. “As the first commercial laboratory to launch a rapid whole genome sequencing offering, to address broad unmet needs for early diagnosis, participation in this study is an important step forward for healthcare and in delivering on our goal to sequence once, analyze forever.”

The study is open to all babies in New York City who are born in a health system that participates in the GUARDIAN program, regardless of their race, income, or health insurance coverage.

“The results from this study will help us understand the true impact sequencing at birth can have on newborns and their families in comparison to the current standard of care, particularly as we’ll evaluate clinical outcomes in addition to the psychosocial effect on families,” said Kruszka in the Sema4 news release.

Anything that improves the health of newborn babies is a good thing. Regardless of the cost, if DNA analysis can give newborns and their families a better chance at detecting inherited diseases early while clinical laboratory treatment could make a difference, it is worth pursuing.

JP Schlingman

Related Information:

Understanding the Impacts of Newborn Whole Genome Sequencing

Sema4, GeneDx to Provide Whole Genome Sequencing and Interpretation Services for Landmark Genomic Newborn Screening Study

The Story Behind GUARDIAN, a Groundbreaking Newborn Screening Study

Can Gene Sequencing at Birth Prevent Terrible Diseases? Researchers Hope So.

Two Boston Health Systems Enter the Growing Direct-to-Consumer Gene Sequencing Market by Opening Preventative Genomics Clinics, but Can Patients Afford the Service?

By offering DTC preventative gene sequencing, hospital leaders hope to help physicians better predict cancer risk and provide more accurate diagnoses

Two Boston health systems, Brigham and Women’s Hospital and Massachusetts General Hospital (MGH), are the latest to open preventative gene sequencing clinics and compete with consumer gene sequencing companies, such as 23andMe and Ancestry, as well as with other hospital systems that already provide similar services.

This may provide opportunities for clinical laboratories. However, some experts are concerned that genetic sequencing may not be equally available to patients of all socioeconomic classes. Nor is it clear how health systems plan to pay for the equipment and services, since health insurance companies continue to deny coverage for “elective” gene sequencing, or when there is not a “clear medical reason for it, such as for people with a long family history of cancer,” notes STAT.

Therefore, not everyone is convinced of the value of gene sequencing to either patients or hospitals, even though advocates tout gene sequencing as a key element of precision medicine.

Is Preventative Genetic Sequencing Ready for the Masses?

Brigham’s Preventive Genomics Clinic offers comprehensive DNA sequencing, interpretation, and risk reporting to both adults and children. And MGH “plans to launch its own clinic for adults that will offer elective sequencing at a similar price range as the Brigham,” STAT reported.

The Brigham and MGH already offer similar gene sequencing services as other large health systems, such as Mayo Clinic and University of California San Francisco (UCSF), which are primarily used for research and cancer diagnoses and range in price depending on the depth of the scan, interpretation of the results, and storage options.

However, some experts question whether offering the technology to consumers for preventative purposes will benefit anyone other than a small percentage of patients.

“It’s clearly not been demonstrated to be cost-effective to promote this on a societal basis,” Robert Green, MD, MPH, medical geneticist at Brigham and Women’s Hospital, and professor of genetics at Harvard, told STAT. “The question that’s hard to answer is whether there are long-term benefits that justify those healthcare costs—whether the sequencing itself, the physician visit, and any downstream testing that’s stimulated will be justified by the situations where you can find and prevent disease.”

Additionally, large medical centers typically charge more for genomic scans than consumer companies such as 23andMe and Ancestry. Hospital-based sequencing may be out of the reach of many consumers, and this concerns some experts.

“The idea that genomic sequencing is only going to be accessible by wealthy, well-educated patrons who can pay out of pocket is anathema to the goals of the publicly funded Human Genome Project,” Jonathan Berg, MD, PhD, Genetics Professor, University of North Carolina at Chapel Hill, told Scientific American.

Nevertheless, consumer interest in preventative genetic sequencing is increasing and large health systems want a piece of the market. At the same time, genetics companies are reducing their costs and passing that reduction on to their customers. (See Dark Daily, “Veritas Genetics Drops Its Price for Clinical-Grade Whole-Genome Sequencing to $599, as Gene Sequencing Costs Continue to Fall,” October 23, 2018.)

Providers Go Direct to Consumers with Gene Sequencing

Healthcare providers and clinical laboratories played an important part in the growth of the Direct-to-Consumer (DTC) genetic testing, a market which the American Hospital Association (AHA) predicts is on track to expand dramatically over the next decade. BIS Research foresees a $6.3 billion valuation of the DTC genetic test market by 2028, according to a news release.

And, according to the American Journal of Managed Care, “It’s estimated that by 2021, 100 million people will have used a direct-to-consumer (DTC) genetic test. As these tests continue to gain popularity, there is a need for educating consumers on their DTC testing results and validating these results with confirmatory testing in a medical-grade laboratory.”

This is why it’s critical that clinical laboratories and anatomic pathology groups have a genetic testing and gene sequencing strategy, as Dark Daily reported.

David Bick, MD, Chief Medical Officer at the HudsonAlpha Institute for Biotechnology and Medical Director of the Smith Family Clinic for Genomic Medicine, told Scientific American, “there’s just more and more interest from patients and families not only because of 23andMe and the like, but because there’s just this understanding that if you can find out information about your health before you become sick, then really our opportunity as physicians to do something to help you is much greater.”

In an article he penned for Medium, Robert Green, MD, MPH (shown above counseling a patient), medical geneticist at Brigham and Women’s Hospital and professor of genetics at Harvard, wrote, “The ultimate aim of our Genomes2People Research Program is to contribute to the transformation of medicine from reactive to proactive, from treatment-oriented to preventive. We are trying to help build the evidence base that will justify societal decision to make these technologies and services accessible to anyone who wants them, regardless of means, education or race and ethnicity.” (Photo copyright: Wall Street Journal.)

Is Preventative Genomics Elitist?

As large medical centers penetrate the consumer genetic testing market some experts express concerns. In a paper he wrote for Medium, titled, “Is Preventive Genomics Elitist?” Green asked, “Is a service like this further widening the inequities in our healthcare system?”

Green reported that while building the Preventive Genomics Clinic at Brigham, “we … struggled with the reality that there is no health insurance coverage for preventive genomic testing, and our patients must therefore pay out of pocket. This is a troubling feature for a clinic at Brigham and Women’s Hospital, which is known for its ties to communities in Boston with diverse ethnic and socioeconomic backgrounds.”

Most of Brigham’s early genetics patients would likely be “well-off, well-educated, and largely white,” Green wrote. “This represents the profile of typical early adopters in genetic medicine, and in technology writ large. It does not, however, represent the Clinic’s ultimate target audience.”

More Data for Clinical Laboratories

Nevertheless, preventive genomics programs offered by large health systems will likely grow as primary care doctors and others see evidence of value.

Therefore, medical laboratories that process genetic sequencing data may soon be working with growing data sets as more people reach out to healthcare systems for comprehensive DNA sequencing and reporting.

—Donna Marie Pocius

Related Information:

Top U.S. Medical Centers Roll Out DNA Sequencing Clinics for Healthy Clients

Brigham and Women’s Hospital Opens Preventive Genomics Clinic

Preventive Genomics for Healthy People

Consumers Buy into Genetic Testing Kits

Direct-to-Consumer Genetic Testing Market to Reach $6.36 Billion by 2028

Is Preventive Genomics Elitist?

Why It’s Time for All Clinical Laboratories and Anatomic Pathology Groups to Have a Genetic Testing and Gene Sequencing Strategy

More Clinical Laboratories and Genetic Testing Companies Are Sharing Gene Sequencing Data That Involve Variations

Veritas Genetics Drops Its Price for Clinical-Grade Whole-Genome Sequencing to $599, as Gene Sequencing Costs Continue to Fall

Researchers Find That Whole-Genome Sequencing Does Not Significantly Increase Downstream Care Costs in 200-Person Brigham and Women’s Hospital Study

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

;