Media Coverage

RADAR on Specialty Pharmacy; AIS Health (https://aishealth.com)
April 2020

Blue Shield of California has agreed to cover rapid and ultra-rapid whole genome sequencing for critically ill infants and children in intensive care who have unexplained medical conditions. The agreement — which will use testing at Rady Children’s Institute for Genomic Medicine, a center of excellence in genetic testing — likely will spur additional insurers to add coverage for this diagnostic technology, observers say.

“I think the way the health plans are going to go about implementing this is exactly what you’re seeing in this case — they’re going to pick a center of excellence,” Ashraf Shehata, KPMG national sector leader for health care and life sciences, tells AIS Health. “I think they’re going to put some bumper guards around how they could go forward with these approvals. And I think in addition to that, you’re going to see their medical policies probably begin to adapt a bit more to accept the outputs that are coming from these types of tests.”

Blues plan members with individual and family plans or employer-sponsored health plans who have a critically ill child up to the age of 18 with an undiagnosed condition who is hospitalized in any location in neonatal or pediatric intensive care may be eligible for the program. The plan says it is the first insurer in the U.S. to offer this kind of coverage.

Test Offers Quick Turnaround

The Rady Children’s Institute team offers what it calls the quickest turnaround of genomic test results available nationwide, delivering results in fewer than three days via ultra-rapid whole genome sequencing and rapid results in fewer than five days, explains Rady Children’s Institute for Genomic Medicine spokesperson Grace Sevilla.

“Ultra-rapid tests are ordered for children who are struggling to survive and cannot wait to get results,” she tells AIS Health. “In these cases, we expedite the processing of samples, and our genetic interpretation team is on standby to analyze sequencing results as soon as sequencing is complete. These account for about 10% of the genomes we do.”

Rady Children’s was the lead research institute in Project Baby Bear, which provides rapid whole genome sequencing to critically ill babies enrolled in Medi-Cal, California’s Medicaid program.

Blue Shield of California participated in the Medi-Cal research analysis, Garlich says, and “we recognized the enormous potential for improved quality of care and lifesaving potential these tests could provide. That’s when we made the decision to provide access to this remarkable technology to our commercial population.”

Sequencing Helped Improve Outcomes

The most recent analysis of Project Baby Bear found that 43% of 116 children tested received a diagnosis, and rapid whole genome sequencing altered the clinical management of babies in more than 35% of cases, avoiding more than 225 hospital days, numerous invasive procedures and many diagnostic tests. Outcomes for babies who received rapid whole genome sequencing were better than outcomes for those who received the current standard of care.

“For many disorders for which there is a definitive treatment that can avert neurological or [other] injury, there is a limited time in which this therapy will work,” says David Dimmock, M.D., medical director at Rady Children’s Institute for Genomic Medicine. “If one uses the analogy of a stroke where ‘time is brain,’ the analogy is very similar for most neonatal treatable disorders. So in a subset of children which we diagnose with genetic disorders, we dramatically change the long-term outcomes by having a diagnosis sooner.”

“Receiving a precise molecular diagnosis can make the difference between improved outcomes and a lifetime of disability or even death for these patients,” says Sevilla. “Rapid and ultra-rapid whole genome sequencing offer a much higher chance of providing a diagnosis than the existing standard of care. By using a single test to identify or rule out genetic disease, doctors are able to avoid a diagnostic odyssey that may involve many futile tests, treatments or even surgeries. The sooner genome sequencing is employed to identify the cause of rare disease, the faster personalized intervention can be provided.”

Dimmock tells AIS Health that “there are also significant, harder-to-measure benefits for the patient families and the medical team caring for a child. Having a definitive answer allows all involved to make more informed decisions; it gives families and caregivers certainty and comfort that nothing was overlooked. Also, having an earlier diagnosis leading to personalized care of a specific condition not only leads to better outcomes for the child, but can lead to fewer days of hospitalization and lower costs of care.”

Plan Has Per-Test Payment Arrangement 

According to Garlich, clinical studies have suggested that up to 10% of symptomatic babies in neonatal intensive care units may have a genetic condition that is difficult or impossible to diagnose without this testing. Among members of the California Blues plan, approximately 50 infants a year may fall into this category, he says. The insurer has a per-test payment arrangement with Rady Children’s, Garlich says. He declined to say how much those payments will total.

The decision by Blue Shield of California is important and “continues the trend we’re seeing for other genetic tests where the increased availability of evidence on clinical and economic outcomes leads to changes in coverage policies,” says Kathryn Phillips, Ph.D., professor of health economics and health services research at the University of California-San Francisco.

“As with other genetic tests, it will be important to continue to examine the trade-offs between the benefits and costs associated with testing and the impact of increased coverage on access to care, test utilization and costs,” Phillips tells AIS Health. “It is important to note that this coverage decision is for critically ill infants and children in intensive care, where rapid testing may be most useful. It thus does not address the issue of coverage for whole genome sequencing more generally.”

Payers Aim for Targeted Clinical Decisions

Blue Shield of California’s move to cover rapid and ultra-rapid whole genome sequencing for critically ill infants and children is part of a larger trend with payers seeking ways to better target clinical decision-making, Shehata says. He also suggests that full genome sequencing could reduce the need for other laboratory diagnostics. “This is kind of a new area for payers to open up genomic sequencing,” Shehata adds.

Kristin Ciriello Pothier, principal at KPMG, tells AIS Health that payers already cover whole genome sequencing for oncology diagnostics. “As we flip it over to newborn babies, it’s the same technique and with more speed required, which the newest sequencing technologies can deliver,” she says. Pothier says she expects insurer coverage for rapid whole genome sequencing for newborns and children to ramp up nationally “in fits and starts,” but ultimately to be widespread because of the inherent value in being able to treat babies and children with rare, devastating diseases.

The National Society of Genetic Counselors reports that gene tests have dropped in price to approximately $1,000 for complete sequencing of the entire genome. Interpretation of the results to assist with clinical decision-making often costs extra.

A 2018 study in the journal Nature looked at 42 acutely ill infants and found that rapid whole genome sequencing helped pinpoint a diagnosis in 43% of those studied, compared with just 10% for standard genetic tests. Eleven of the infants (26%) avoided morbidity, one had a 43% reduction in the likelihood of mortality, and one started palliative care as a result of the tests. In addition, the changes in management reduced inpatient costs by $800,000 to $2 million for six of those 11 infants, the study found.

Read the Nature study at https://go.nature.com/2xrxp1a.

Source: RADAR on Specialty Pharmacy; AIS Health (https://aishealth.com)

Daily vitamin doses were all that 11-month-old Maverick Coltrin needed to end the deadly seizures that arrived shortly after his birth.

But that simple solution materialized only after quick-turnaround genetic sequencing helped doctors at Rady Children’s Hospital in San Diego find the correct diagnosis fast enough to make a difference for the rapidly-deteriorating infant.

Whole-genome and whole-exome sequencing have greater diagnostic and clinical utility than chromosomal microarrays in children thought to have a genetic disease, according to a new analysis. This suggested to the Children’s Institute for Genomic Medicine-led research team that sequencing should be considered a first-line genomic test.

A superteam of seven pediatric hospitals with advanced genetic and genomic testing capabilities is reporting progress in their efforts to improve the diagnosis of rare childhood diseases and hasten treatment.

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing*carried out quickly has the potential to provide an early diagnosis, and thus improve the clinical care of these infants as well as reducing its cost.

The story of Maverick Coltrin’s medical mystery is gripping: Last October, he was just 6 days old when he stopped eating. Then the seizures came. His tiny arms and legs would stiffen for a few seconds as many as 30 times per hour. Doctors at Rady Children’s Hospital in San Diego tried multiple tests and medications, but nothing revealed what was wrong. When Maverick turned dusty blue, his parents asked, “Do you think he’s going to survive?”

The answer: “We’re doing everything we can.”

“Everything” was about to have a new meaning.

Studies suggest that whole-genome sequencing can be done more quickly and cheaply, offering fast diagnoses that can save ailing babies.

While genetic diseases pose the single biggest source of infant mortality in the U.S., many of these disorders are so rare and little understood that an accurate diagnosis can take weeks or months.

The National Institutes of Health has awarded a grant of over $34 million to the Scripps Translational Science Institute to apply digital and genomic technologies to health care.

The five-year grant is the third Clinical and Translational Science Award the NIH has awarded to the institute, part of The Scripps Research Institute.