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We hear a lot about the wonders of genetic testing, how it can revolutionize medicine and find cures for fatal diseases.

new study from the University of Michigan also shows how it can waste a half a billion dollars a year.

Researchers at the university examined testing for inherited thrombophilia, a genetic quirk that can indicate a patient’s likelihood of developing dangerous blood clots.


It sounds like a useful test to have. But, according to the researchers, knowing that you have the trait will not change your treatment.

“It really is one of these tests where there is no benefit to patients in the hospital,” said Dr. Christopher Petrilli, a University of Michigan hospitalist who coauthored the study. He noted that people who develop blood clots are treated with the same anticoagulant drugs, whether they have the gene or not.


Nonetheless, the study estimated the cost of the tests between $300 million and $670 million annually; Medicare received claims 280,000 times for the inherited thrombophilia test in 2014 alone, at a cost of between $1,100 to $2,400 a pop.

That means it cost taxpayers about a half a billion dollars without providing a discernible medical benefit.

The study only examined Medicare spending, which means it was likely billed to private insurers in countless other instances.

Unnecessary medical care is estimated to cost the United States between $750 billion and $1 trillion dollars a year, accounting for nearly a third of its overall spending on health care. Wasteful testing is one of the primary drivers of those costs.

Dr. Nitin Damle, president of the American College of Physicians, said it’s important for doctors to have conversations with their patients about the pros and cons of particular tests, to help weed out the ones that don’t offer a clinical benefit.

“You can explain to them that getting a test is not going to change therapy and that it’s just going to lead to more anxiety, unclear results, and more testing,” Damle said.

He noted, however, that many patients still want to have tests to understand their medical issues or predispositions they might pass to children. In those cases, it is appropriate for patients to pay out of pocket, instead of billing the government or private insurers. “That’s not an easy conversation to have to have with patients,” Damle said. “But if they’re not following the science, payers shouldn’t necessarily be responsible for covering that.”

In the case of inherited thrombophilia, Petrilli said, doctors appeared to be complicit in the waste — possibly due to fear of litigation or simply a shared desire to get the answers for their patients.

But the impact can easily snowball beyond the cost of the initial test. “It can lead to their family members being tested and increased anxiety for the entire family, which can lead to increased insurance premiums for health and life insurance,” he said. “It’s something that can follow you in your medical history even if it’s relatively meaningless.”

Petrilli said the researchers did find isolated circumstances where the inherited thrombophilia test could help —  if, for example, a female patient was planning to undergo hormone therapy that would increase the potential for blood clotting. In that cases, the test could alert the patient to potential risks.

“Aside from that,” he said, “it’s relatively purposeless.”

The research was published in the Journal of Hospital Medicine, which periodically runs articles on unnecessary care using a plainspoken title: “Things We Do For No Reason.”

  • I’m a child neurologist, over the years I have ordered genetic testing in several hundred patients. Test positive in minority of patients with epilepsy, developmental delay and Autism. So far all them had no values in cure or treatment. I cannot think of single patient where treatment option was changed because of positive test.
    Now patients are coming and asking for gene test to find out best treatment option for their child with ADHD, BPAD etc.
    I personally think it is waste of our tax payers money. I have yet to see any study data where it has helped patient. I agree with statement by Ellen Simpson.

    The risks of most genetic testing are more emotional than physical, says Ellen Simpson, Ph.D., a genetics counselor in the prenatal diagnostic center at the University of California, San Francisco Medical Center.

    Genetic test costs taxpayers $500 million a year, with little to show for it.

  • Recently, STATNews has reported on several aspects of genetic testing and all stories have been presented in a negative light. It’s concerning for a thread of stories to take a negative slant when so many advances in genetic testing are, in fact, delivering value and improving care for patients every day in areas such as cancer treatment and infectious disease. Breast cancer, colon cancer and the Zika virus are just a few examples of how groundbreaking diagnostic testing is leading to better and more effective patient care.

    Just as the education of physicians and patients is critical with the advent of medical innovation and scientific discoveries, so is the importance of fair and accurate reporting on the efficacy and significance of these tests to patients.

    The future of medicine and patient lives rest in the drive to provide physicians with accurate information that directs the best treatment decisions. The journalistic coverage of medical innovation must do justice to all facets of the dynamic sector of diagnostic discoveries, including genetic testing.

  • Nonsense! Once a patient develops a clot requiring hospitalization it is important to know WHY. The second incident could result in significant morbidity & mortality. Once known, preventive measures can be taken. Screening family members is also preventive. For example, a patient was hospitalized for gall bladder issues was discovered to have anti phospholipid Abs (LA). The best course is to retest after inflammation subsides to see if APAs persist. If so, the patient is at risk for repeat thrombophilia. If not, it may mean the patient is only at risk when inflammation is present. Having this info is crucial so the patient can take steps to be anticiagulated during any inflammation episode. Also, a patient may have a second issue such as Fac5L or Prothrombin gene mutation. This patient should be screened. One should not necessarily screen patients when there is not clot Hx. That would be a waste.

  • Look at the multitude of women on hormonal blood control, then tell me that genetic testing for thrombophilia is a waste of money.

    The biggest benefits of genetic testing are not NOW, they are in the future. We need an enormous data pool to make advanced genetic testing effective, so that we can test babies who aren’t yet showing signs of thrombophilia, etc. and keep an eye on them or use whatever preventative adaptation method we discover in the future to change it.

    • You have a point. Estrogens increase coagulability. When a doc is screening for a bleeding disorder, results can be falsely normal when in fact they are low. Hypercoagulability can be significant with estrogens AND an underlying thrombophilia.

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