Medi-Cal denies patients access to now-basic genetic tests
August 20, 2014

in San Francisco Chronicle, full article here:

by Jessica Carew Kraft

Dr. Bryce Mendelsohn of UCSF Benioff Children’s Hospital says the policy causes hardship to 2,000 families each year.

Jessica Lucas, a Central Valley resident, rushed her 10-year-old son, Curtis, to the emergency room last month when he passed out shortly after tussling with his 3-year-old brother.

Cardiologists at Madera Children’s Hospital (Madera County) suspected that Curtis might have Long QT syndrome, a hereditary condition that can cause sudden death from physical exertion. Curtis’ great-aunt had died from LQTS while swimming, and several other family members had been identified as carriers.

LQTS can be diagnosed with a genetic test, and, if confirmed, the condition can be treated successfully. Better yet, if the abnormal gene is not found, Curtis family can rest assured that he is not at risk for the syndrome. But for Curtis and many other kids on Medi-Cal, getting this genetic testing is next to impossible.

Although Medi-Cal, the state’s version of Medicaid, supposedly covers testing for LQTS, it has never authorized a laboratory to perform it. As a result, the Lucas family has not yet been able to have their son tested for this life-threatening condition. The test can cost from $350 to $1,000; either way, it’s an out-of-pocket expense the family can’t afford.

Curtis has been relatively inactive this summer in an attempt to avoid triggering arrhythmia. “We don’t let him run around and try not to get him too excited,” his mother said. “But that’s really hard for a kid his age.”

The gap in coverage can be traced to Medi-Cal’s 2001 decision to stop accepting any new medical service providers, including all laboratories that perform genetic testing. The sweeping measure was intended to head off fraud, despite studies that have identified hospitals and nursing homes as the most common perpetrators of claims fraud.

But many thousands of children on Medi-Cal with severe health issues have been denied access to the fast-growing field of genetic testing that could improve their treatment, provide valuable information to their parents and reduce health care costs in the long run.

Since the moratorium began, genetic testing has become a reliable tool for identifying and treating diseases in patients with undiagnosed genetic disorders. Genetic testing can also reveal how diseases are inherited and pinpoint other family members’ risk or carrier status. In the worst cases, where a child has died for an unexplained reason, gene sequencing might provide a cause of death and help a family understand the risk of having another similarly affected child.

The cost of genetic testing has plummeted since 2001, when sequencing a single genome cost upwards of $95 million. That can be done today for only $4,000. Less comprehensive tests, like those recommended by the Lucas family’s doctors, average less than $1,000.

Ambry Genetics, a genetics lab near Irvine, has tried for years to become a Medi-Cal provider, without success – even as it has received similar approval from public insurance agencies in 35 other states.
Denied current technology

“The moratorium on accepting new labs forces patients in the state of California to be treated with 1990s technology,” said Steve Keiles, Ambry’s director of clinical affairs. “The new technology is more sensitive, more accurate and more cost-effective, and they are not able to take advantage of that.”

Insurance carriers are understandably wary of paying for expensive, cutting-edge tests whose accuracy is not yet established. Medi-Cal, however, doesn’t authorize genetic tests that are now considered part of standard care and covered by private insurance companies, as well as the Medicaid programs in other states.

Medi-Cal’s coverage stands at odds with federal guidelines, which authorize a wide variety of genetic tests for pediatric patients who meet diagnostic criteria, and the agency’s spokesman, Norman Williams, verified that the moratorium is partially to blame for this.

The genetic tests Medi-Cal won’t cover can identify muscular dystrophy, epilepsy, hereditary cancer, and a broad range of other defects and syndromes such as cardiac and cleft lip and palate defects. Medi-Cal won’t pay for a test that the American College of Medical Genetics and Genomics has recommended since 2010 for first-line screening of children with autism or developmental delays, known as Array Comparative Genomic Hybridization.

In an especially befuddling paradox, Medi-Cal does cover prenatal testing for conditions like Down syndrome, and screening of newborns for conditions like cystic fibrosis, but it won’t pay to screen potential parents for these same genetic conditions before conception or to diagnose an older child.

Doctors and medical professionals have begun speaking out about the issue.

“It’s like night and day,” said Dr. Bryce Mendelsohn, a pediatric genetics fellow at UCSF Benioff Children’s Hospital in San Francisco who regularly treats Medi-Cal patients with severe, undiagnosed conditions. “If a patient has private insurance, we talk about what testing would be most appropriate, even very advanced tests. If they are poor and on Medi-Cal, we counsel and educate, but we know we could be doing more.”

Mendelsohn estimates that the lack of access to genetic testing is causing hardship for at least 2,000 California families on Medi-Cal each year.

Dr. Louis Girling, medical director of California Children’s Services of Alameda County, is responsible for evaluating genetic testing requests for pediatric patients covered by Medi-Cal – and usually has to deny them, he said.

“In one case that I recently reviewed, the genetic test would affect the patient’s ranking on a transplant waiting list. Other tests might confirm a diagnosis that is slightly unclear,” Girling said. “But I don’t have any pathway for authorizing payment through our existing system because of Medi-Cal’s policies.”
Looking for remedy

Alameda County California Children’s Services, along with other CCS programs around the state, is gathering data to assess the scope of the problem. Girling said that Medi-Cal’s policies could be aligned with current standards of care by enabling CCS medical consultants to review cases and issue authorizations, when appropriate, that would override Medi-Cal’s code restrictions and lack of authorized labs, opening the way for qualified providers outside the Medi-Cal system to bill for gene sequencing. Girling said the agency has authorized genetic testing one time in a case he was involved with, but it’s the first time it’s happened that he’s aware of, and Medi-Cal has not yet paid the bill.

As it stands, when a genetic diagnosis can’t be made because of a lack of coverage, the patient and medical care providers embark on a “diagnostic odyssey” that can last months or years. It usually ends up costing far more than the genetic test that otherwise would have been performed.

Children on Medi-Cal visit specialists and undergo various procedures, some of which are invasive and painful (muscle biopsies) or pricey (repeated MRIs and echocardiograms), in an attempt to reach a conclusive diagnosis.

Dr. Melvin Scheinman, a cardiologist at UCSF who regularly sees Medi-Cal patients, said Medi-Cal’s treatment guidelines say patients, like Curtis Lucas, with relatives who have an inherited cardiac disease should receive EKGs and echocardiograms every two to three years to watch for symptoms. But for half of these patients, one genetic test could rule out a lifetime of monitoring – and worrying about the condition.

Screening tests can add up to hundreds of thousands of dollars for a single patient over a decade; the cost to Medi-Cal of one genetic test to determine whether a family member is affected is under $350. Scheinman said that Medi-Cal officials have never responded to his repeated communications to them about this waste of public resources.

UCSF genetics counselor Julianne Wojciak sees the impact of Medi-Cal’s policy on families affected by cardiovascular disease. “Not knowing their condition or the risk of a condition takes an extraordinary emotional toll,” she said. “When you can reassure someone that they don’t have the gene, that is extremely helpful.”

And when infants born to Medi-Cal families die of an undetermined genetic condition, there is no possibility of gene sequencing to find out what went wrong. In these cases, Mendelsohn said, “Many parents live in a perpetual state of fear of having another baby, because we can’t tell them what the odds are of having another child with the same problem.”

Pediatric Medi-Cal patients do have a few ways to get the genetic tests their doctors recommend. Children’s hospitals like UCSF and rare-disease nonprofits solicit donations and set up charity funds. Doctors frustrated with the status quo seek out procedural loopholes, sometimes ordering undocumented testing from on-site hospital labs.

Some patients try to crowd-fund their medical needs by posting their children’s tragic stories on sites like GoFundMe and CauseWish. Private genetic testing labs like Ambry offer financial plans and discount rates for patients who have no choice but to pay out of pocket.

But most Medi-Cal families in this situation fall through the cracks. Said Wojciak, “Even writing a $100 check for a gene test is hard for many of the families we see.”

Jessica Carew Kraft is a freelance writer. E-mail: