It takes years for most people with a rare disease to learn what is ailing them. Their symptoms may be crystal clear, but the cause isn’t. Efforts by the Department of Justice — an agency not known for its medical expertise — will make things even harder for the millions of Americans, half of them children, with one of these diseases.
They deserve accurate diagnoses. Once they know what’s wrong, they may be able to pursue treatment, or at least put an end to the anxiety that uncertainty can produce. An accurate diagnosis can also empower them to make more informed health-related choices.
Recent advances in genetics have made it possible for many people with rare diseases to get the diagnoses they need via genetic testing. However, many insurance plans won’t pay for this state-of-the art testing, and many people can’t afford to pay the $1,000 or more cost.
Rare disease companies like mine have stepped up to fill this gap and pay for genetic testing so people can receive correct diagnoses and qualify for treatments. That’s why I am frustrated that the Department of Justice (DOJ) is misusing federal law to make it harder for people with rare diseases to get the answers they need.
It takes the typical individual with a rare disease six years and an average of 17 clinical encounters after the onset of symptoms to finally receive a diagnosis. The economic costs of such a diagnostic odyssey, including medical costs and losses in productivity, range from $86,000 to $517,000 per person.
The sponsored testing programs offered by some biotech companies and research organizations can shorten the diagnostic timeline — in some cases ruling out possible causes, in others providing a clear answer. Well-informed physicians aware of this option often order such tests. But the DOJ believes these tests constitute “kickbacks,” and wants to stop them. Such tests, so the DOJ’s thinking goes, are kickbacks to patients in the form of free genetic tests to induce purchase of a particular drug, or kickbacks to the testing laboratory to induce the referral of physicians to the sponsoring biotech company.
Recent guidance from the Department of Health and Human Services Office of Inspector General (OIG) and DOJ enforcement activity are impeding sponsored testing, which could limit access to critical genetic diagnostic testing and drag out the diagnostic journey.
While biotech companies have been sponsoring genetic tests for years, the federal government had not expressed any concern until April 2022, when HHS’s Office of Inspector General issued its recent guidance as an advisory opinion about why one particular sponsored genetic testing program was considered low risk for the imposition of government sanctions. But before the OIG published its advisory opinion, the DOJ began investigating my company, Ultragenyx, for sponsoring genetic tests for a rare disorder. The DOJ wrongly asserted that by paying for such tests — it called these payments kickbacks — the company facilitated the submission of false claims to Medicare and Medicaid for coverage of one of its medicines.
There were no kickbacks or false claims. Only individuals whose genetic tests were positive for the rare disorder my company treats were diagnosed with the disorder, and their doctors had full discretion to decide whether or not to prescribe our drug to their patients. In fact, I know of at least one instance where our sponsored test established that a patient who had already been prescribed our drug did not, in fact, have the disorder. Ultragenyx followed up with the doctor to make sure the patient did not continue taking the drug. Without the tests we sponsored, many patients ultimately diagnosed with the disorder would continue to suffer from an unknown disease without proper care.
My company ultimately settled with the DOJ to avoid drawn-out litigation and to allow us to focus on our mission of developing new treatments and continue to do the right thing for patients.
The DOJ has issued a subpoena to another rare disease pharmaceutical company, calling into question its sponsored genetic testing program.
In doing so, the DOJ has exposed its fundamental misunderstanding of the rare disease landscape. The agency seems to believe that companies sponsoring genetic testing are pushing patients into these tests — and then into treatments — they don’t need.
That’s not happening. No patient or parent seeks out genetic testing for fun. It’s often the last step in a lengthy, expensive process of trying to uncover what’s causing unexplained symptoms. And only individuals whose clinical conditions warrant suspicion are eligible for the tests in the first place.
People who undergo sponsored testing are looking for accurate diagnoses; they’re not being coerced. They are already on their diagnostic odyssey and working with their care team to figure out what’s wrong. And even if there’s only one approved treatment for a given disease, the patient or family still has options once a confirmed diagnosis is in hand. They can enroll in a clinical trial for a medicine in development, receive genetic counseling, or determine if some other care path is right for them.
For people with rare diseases, especially children, early diagnosis can open up treatment options that will close over time. Delays in diagnosis and treatment can mean irreversible damage or sometimes death.
Genetic testing represents a path forward for people who may have a rare disease. Public and private insurance plans should be covering the costs of this testing instead of companies like mine. Until insurers step up to do the right thing, the federal government should support these efforts to help people with rare diseases and advance medicine — not thwart them.
Emil Kakkis, M.D., Ph.D., is the CEO of Ultragenyx and an assistant adjunct professor of pediatrics at the University of California Los Angeles.