When Matt Christman watches his kids play soccer every week, he harbors a nagging worry that one of them will suddenly collapse and die of a heart attack.
Christman, 37, of Huntington, has hypertrophic cardiomyopathy, an inherited condition that kills at least 1,600 people in the United States annually.
Among its victims are Boston Celtic Reggie Lewis, who succumbed on a basketball court at 27, and Loyola Marymount University basketball star Hank Gathers.
Implanted under Christman’s skin is a device that detects and jolts away abnormal heart rhythms. He can’t walk 300 feet without having to stop and rest. Fluid is building up in his abdomen, making it difficult to breathe.
Each of Christman’s seven children has a 50 percent chance they’ll have the same disorder, and a $500 genetic test could tell them.
His health insurer won’t pay for it.
“For some people, the first symptom of this is cardiac arrest -- they drop dead on the soccer field, the basketball court,” Christman said, sitting in his living room while his kids, all 12 years old and younger, played around him.
“We have a chance to be a step ahead of the game here. You just think it’s a no-brainer for the insurance company.”
It’s far from a no-brainer.
As genetic testing spreads, revolutionizing how doctors recognize and treat illness, the insurance industry is in a muddle. A genetic test one insurer calls “actionable,” another considers “unnecessary.” Some will pay to test sick patients, but not to find out who’s at risk of a disease.
Anthem Blue Cross Blue Shield, the WellPoint Inc. unit that covers Christman through his employer, won’t pay for the test, even though it will cover the more expensive alternative -- annual heart scans that will cost about $12,000 per child during the next six years.
Geneticists say the new tests can give the precise identity of cancers and their most vulnerable points, judge a person’s predisposition to Alzheimer’s disease, predict the best dose of blood-thinning medicines in individual patients and target prevention and treatment for people like Christman’s children.
Yet the rise of genetic testing may fuel demand for treatments that may not work or that patients may not need, said Ezekiel Emanuel, a former White House adviser who is now chairman of the Department of Medical Ethics and Health Policy at the University of Pennsylvania in Philadelphia.
“There’s a huge proliferation of genetic tests that are not going to offset existing medical costs,” Emanuel said in a telephone interview. “And while some of these tests help target therapy, like in lung cancer, some of them are going to create new costs.”
Doctors may prescribe intensive treatment even when a genetic test suggests a cancer patient is at low risk, Emanuel said. Some doctors may use them on people who are unlikely to benefit from the findings of the test, he said.
Genetic tests themselves aren’t always reliable, said Rita Redberg, a University of California, San Francisco, cardiologist who advises WellPoint.
Most of the tests aren’t approved by the U.S. Food and Drug Administration, she said. The testing procedures are overseen by the Centers for Medicare & Medicaid Services, which doesn’t evaluate the probes’ medical aspects.
“The labs that perform the tests are of variable quality, and it’s often unclear how to use the results,” Redberg said in a telephone interview.
Kathleen Raker, a 45-year-old attorney in Williamsport, Pa., began navigating the maze when she decided to undergo Myriad Genetics Inc.’s test for BRCA1, a gene that signals a predisposition for breast cancer, in 2007.
Her mother died of breast cancer at 28, and her maternal grandmother also succumbed to the disease at 52.
At the time, Raker was covered by an insurer that paid for the test. When she came up negative, a genetic counselor suggested she undergo a second Myriad test that looks for other, less-common DNA changes associated with breast cancer.
By the time Raker decided to follow up, she had moved to a lower-cost insurance carrier, Geissinger Health Plan, with a high deductible that meant she would have to pay for the testing out of her own pocket.
A genetic counselor from Geissinger advised her to see whether she qualified for a Myriad program that allows uninsured patients to pay just 10 percent of the $700 cost of the follow-up test.
Myriad told her that while it will subsidize testing in some patients who have no health coverage, it will not pay for those covered by health plans that won’t pay.
Myriad has worked to have its tests covered by most private and public payers, and estimates that 95 percent of U.S. patients have access to its breast cancer test, said Rebecca Chambers, a spokeswoman for the Salt Lake City-based company.
Because of regulatory limitations, patients who are recipients of government-funded programs or those with third-party insurance aren’t eligible to apply for subsidized tests, she said.
Raker is still hoping to be tested someday so she can tell her children whether she has a cancer-associated mutation that she may have passed on to them.
At the root of insurer resistance is concern about costs.
U.S. spending on genetic tests will balloon fivefold to as much as $25 billion in the next decade, from $5 billion in 2010, according to UnitedHealth Group Inc., the country’s largest insurance company, which covers 36 million people.
A majority of the 1,300 DNA tests developed to identify or manage medical conditions still haven’t been studied enough to prove their effectiveness or cost savings, UnitedHealth said in a report released in March.
The company will pay for a genetic test that can accurately tell doctors whether to use breast cancer drugs such as Roche Holding AG’s Herceptin, said Lee Newcomer, UnitedHealth’s senior vice president of oncology services.
Yet for each of these reliable genetic tests, there are many more that remain unproven, he said.
The concern is that the tests will “send you down blind alleys,” said Reed Tuckson, UnitedHealth’s executive vice president and chief of medical affairs. “That’s something you wouldn’t want for anyone. And it takes the costs of care through the roof.”
The growing number of tests may exacerbate the dilemma.
Dana-Farber Cancer Institute in Boston normally charges $1,000 to $2,000 for six genetic tests that help doctors decide how to treat lung-cancer patients. The Harvard University-affiliated hospital is preparing to offer a $500 test that detects all six mutations -- along with about 500 more cancer-linked gene defects, said Barrett Rollins, chief scientific officer.
Although the new test is cheaper and more informative, the 500 extra tests may suggest the use of treatments that are still unproven in lung cancer and drive up costs, he said.
Tricare, the program that provides medical care for active-duty military, also excludes most genetic tests because they lack FDA approval, said Austin Camacho, a spokesman.
Tricare is conducting a project to see whether it can approve coverage for the tests, he said in an email.
Medicaid, the health program for the poor that’s funded jointly by states and the federal government, discourages the use of many genetic tests by providing low reimbursement, said Aubrey Milunsky, director of Boston University’s Center for Human Genetics. Massachusetts’s Medicaid program pays $30 for a test for fragile X syndrome, the most common inherited cause of cognitive impairment.
Milunsky’s center normally charges $350 for the test. While Milunsky will perform the analysis for Medicaid’s rate, many other labs where he sends samples for testing won’t, he said.
“The amount of confusion around coverage and reimbursement for genetic testing is extraordinary,” said Sharon Terry, president and chief executive officer of the Genetic Alliance, an advocacy group based in Washington.
Genetic tests differ from many other procedures in that the test may be seeking mutations that are unique to individuals and their families.
Initial testing for these novel mutations may cost as much as $3,000 to $4,000, Terry said. Once the familial mutation is found, tests of relatives are usually far cheaper, often on the order of a few hundred dollars, she said.
Informing children and helping other family members determine whether they’re at high risk for heart disease is the leading reason people get tested in her practice, said Allison Cirino, a genetic counselor who sees cardiac patients at Brigham and Women’s Hospital in Boston.
People whose plans don’t cover the testing frequently determine they can’t afford the tests on their own.
Patricia Kraus of Wayne, Mich., has a family history of colon cancer, and has already lost a large portion of her colon to the disease. She would like to take a Myriad test for colon cancer, but her insurer, Midwest Health Choice, won’t pay for it.
The cost of looking for a mutation would be about $3,000, which hasn’t been tested for before in her family.
Although she’s already been treated for cancer, she wants to be able to tell her children, who are all adults, whether she has a gene mutation that they should be tested for.
“My daughter wants to have this test right now,” she said. “My son is asking about it, too.”
Matt Christman came around to score from second in a 2004 softball game when he noticed something unusual -- he was out of breath and light-headed.
While it didn’t seem important at the time, Christman discovered the reason at his next checkup. He had a heart murmur.
An echocardiogram, an ultrasound image of the heart, revealed telltale thickening in the wall.
Abnormal growth in the heart wall of patients with hypertrophic cardiomyopathy garbles electrical signals that keep blood pumping normally. The scrambled impulses can lead to irregular heart rhythms that can cause cardiac arrest.
About 620,000 Americans have the condition, according to the Hypertrophic Cardiomyopathy Association, a patient group. A 2009 study in the journal Circulation reported that it killed 251 young athletes from 1980 through 2006.
Soon after being diagnosed, Christman had a device implanted under his skin that detects abnormal heart rhythms and can shock his heart back to a normal pace if necessary.
Christman’s mother, aunt and sister were also tested and found to harbor the same mutation. They also began getting preventive treatment.
During the last year, Christman’s concern turned to his children.
The family lives in a rural area, next door to the farm where his wife, Christina, grew up and her parents still live. Their comfortable small home is on a dirt road with an above-ground swimming pool and wooden deck in back.
The children have worn a path to their grandparents’ farm. The oldest three -- Alexandria, 12, Luke, 11 and Marianne, 10 -- make the 300-yard walk daily to do chores and 4-H club activities, such as training sheep.
While home-schooled, the Christman children play in basketball and soccer leagues. Marianne said she dreams of taking ballet lessons. Luke goes on hiking trips with the Boy Scouts, far from the protective view of his parents.
In November, Michael Mirro, Christman’s cardiologist, recommended the three oldest children should be tested for the mutation. All three are on the verge of adolescence, when hypertrophic cardiomyopathy often appears without warning.
If the children couldn’t get the genetic test, Mirro said he would recommend they all undergo annual echocardiogram imaging to check for thickening of the heart wall. That’s a cost of at least $12,000 per child during the next six years. For a few hundred dollars, the insurer might avoid those procedures.
Mirro’s point of view is backed by the American Heart Association and the American College of Cardiology, the biggest U.S. groups of heart doctors. Their 2011 consensus statement calls for genetic testing in close relatives of people with hypertrophic cardiomyopathy.
Christman thought WellPoint would be persuaded.
“I thought there was a pretty good chance they would cover it,” he recalled.
“Medical studies we have seen do not show that this testing is likely to improve your treatment and health,” according to a letter Christman received from the insurance company.
WellPoint has a medical advisory board of about 20 doctors that meets four times a year to review its medical policies, including its stance on genetic testing for hypertrophic cardiomyopathy.
Redberg, the UCSF cardiologist who sits on the panel, says she never uses the genetic test for that particular condition. The test doesn’t clearly identify which patients need follow-up treatment and which are no longer at risk of heart disease, she said.
Wellpoint declined to discuss specific cases.
Inaccurate positive tests can be just as damaging to patients, unnecessarily burdening them with the idea that they’re at risk of sudden death and can’t play sports or engage in beneficial exercise, she said.
“Before you start advising people that they might drop dead, you want to make sure that this test is absolutely correct,” she said. “You want the family history, a clinical assessment and an echocardiogram. I don’t think the genetic test adds to that.”
Aetna Inc. takes an opposite view. The Hartford, Conn.-based insurer has routinely covered testing for hypertrophic cardiomyopathy in patients’ closest relatives since November 2010, according to company documents.
The test can help save money and feeds into important medical and personal decision for patients, said Bob McDonough, head of clinical policy research and development at Aetna.
“With any new genetic test, we want to make sure that what we’re getting is more than just interesting data,” McDonough said. “This test gives us actionable information.”
As he waited for word from WellPoint, Christman began developing additional health problems.
The defibrillator implanted in his chest indicated he was having more frequent abnormal heart rhythms. He began having increased fatigue and breathlessness.
Christman began to suffer from edema, or fluid retention, in his belly that feels like a “a boa constrictor.”
Chores like mowing the lawn became too strenuous, and even risky for Christman, so his wife took them on. He continued to watch his children run and play, his concern rising.
Mirro fired off a letter to WellPoint, explaining the necessity of the testing and the cost savings.
In March, WellPoint denied the testing again. Mirro drafted another letter and called the company on the phone.
In April, WellPoint sent a third round of letters denying the Christmans' testing request. The letter said the company had completed its review of their appeal and repeated that the test is “experimental” and “not medically necessary.”
“We realize some cases are unique and therefore also provide for a robust appeals process using clinically appropriate specialists who are independent of WellPoint,” said Lori McLaughlin, a WellPoint spokeswoman, in an email. The Christmans can continue to appeal, she said.
A civil engineer, Christman makes about $60,000 annually. Baffled by WellPoint’s refusal to pay for a test his doctor says is critical, he plans to spend $1,500 to have his three oldest children tested if the company persists.
Christman said he’s most concerned about his 7-year-old son Benjamin, who’s already shown signs that he’s more interested in athletics than the others.
“I live every day with the concern about what their future holds,” he said.