Crucial Genetic Testing Under Fire — What Does This Mean for Millions of Americans Living With Rare Diseases?

Fighting for People with Rare Disease

• Millions of Americans, including many children, are affected by rare diseases, and many times it takes years to pinpoint a diagnosis, not to mention tens of thousands of dollars.
• With the help of advancements in genetic testing, many of those suffering have finally been getting the answers they need, but now these biotech companies are coming under fire by the Department of Justice (DOJ), which views these tests as kickbacks, and impeding sponsored testing.
• CEO of Ultragenyx, Emil D. Kakkis, recently spoke out against the DOJ and other agencies trying to put a halt to people getting the answers they deserve.
• To learn more about resources that can help, SurvivorNet created a guide for people navigating a rare disease or cancer diagnosis.

Millions of Americans, including many children, are affected by rare diseases, and many times it takes years to pinpoint a diagnosis, not to mention tens of thousands of dollars. With the help of advancements in genetic testing, many of those suffering have finally been getting the answers they need. However, testing companies coming under fire by the Department of Justice (DOJ) may affect patient access to these tests. The topic was covered in a recent opinion piece for STAT , where Emil D. Kakkis , CEO of Ultragenyx Pharmaceutical Inc, stresses how important it is for patients with rare diseases to access these tests. "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," Kakkis writes. RELATED: Country Singer-Songwriter Kris Kristofferson, 87, Had Symptoms Misdiagnosed As Alzheimer’s but It Turned out To Be Lyme Disease "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," Kakkis adds.

Many Insurance Companies Still Won't Cover Genetic Testing

Though recent advances in genetics have "made it possible for many people with rare diseases to get the diagnoses they need," many insurance plans still won't cover it, which is even more frustrating for people knowing that they could get help if they had the money, but $1,000 or more for testing is a huge investment for many. "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," Kakkis explains. "That's why I am frustrated that the Department of Justice is misusing federal law to make it harder for people with rare diseases to get the answers they need." The cost of pushing for answers over the years can range from $86,000 to $517,000 per person.

"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" - Emil D. Kakkis

"The sponsored testing programs offered by some biotech companies and research organizations can shorten the diagnostic timeline," Kakkis points out, noting that "in some cases ruling out possible causes, in others providing a clear answer."

Accused of 'Kickbacks'

Part of the problem is that the DOJ considers these tests "kickbacks" to patients "in the form of free genetic tests" to encourage purchasing a certain drug, "or kickbacks to the testing laboratory to induce the referral of physicians to the sponsoring biotech company." A Young Woman’s Inspiring Battle With Von Hippel-Lindau Disease, A Rare and Mysterious Condition "Biotech companies," Kakkis says, "have been sponsoring genetic tests for years." The federal government never got involved until April 2022. "The agency seems to believe that companies sponsoring genetic testing are pushing patients into these tests — and then into treatments — they don't need." Kakkis ensures 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." RELATED: In Honor of Rare Disease Day, SurvivorNet Shares Resources for People Navigating a Rare Cancer Diagnosis "No patient or parent seeks out genetic testing for fun," Kakkis continued. "It's often the last step in a lengthy, expensive process of trying to uncover what's been causing unexplained symptoms." "And only individuals whose clinical conditions warrant suspicion are eligible for the tests in the first place."

Have a Rare Disease? Here are Some Resources

All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it's important to know you're not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.

Academic Centers and Comprehensive Care Centers

For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers. In a previous conversation with SurvivorNet, Dr. Kenneth Miller , director of outpatient oncology at the University of Maryland's comprehensive cancer center, explained what differentiates a "comprehensive cancer center" from other treatment providers. Seeking Care at a Comprehensive Cancer Center "Pretty much automatically, there's going to be a team approach [to your care]," Dr. Miller said. "Surgical oncology, medical oncology, radiation oncology, and all the support services, and also wonderful pathology and radiology." Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer. RELATED: If You're Diagnosed with a Rare Cancer like Louis Vuitton Designer Virgil Abloh, How Do You Find Help? "We call it a tumor board, a group to go through all the details of your case so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well."

Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder

Another place to turn to when you've been diagnosed with a rare disease and you're considering experimental treatment (or trying to find specialists) is clinicaltrials.gov , a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world. Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach. Clinical Trials Can be Life-Saving for Some Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases. By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, "Investigators." Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition. And if you'd prefer to search for clinical trials on a more user-friendly site, try SurvivorNet's new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options. To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we'll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients. "Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it's clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients," SurvivorNet CEO Steve Alperin said. "Even one percent more people successfully enrolled in clinical trials can change the world."

PubMed

Similar to clinicaltrials.gov, PubMed is another place to turn if you're looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE , life science journals, and online books. If you type in your disease, you'll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.

Newly-Developed Drugs

For those who've been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases. The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.

Compassionate Use and Off-Label Use

Drug companies may be able to help patients enroll in clinical trials , and in some rare cases, they may even be able to offer "compassionate use." Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand. Similarly, researching drug companies may be a path to "off-label" drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for. Contributing: SurvivorNet Staff