Greatest Challenges Faced in Diagnosing Rare Diseases


Receiving a proper diagnosis can be one of the greatest challenges for a rare disease patient, but having the right tools can help.

Since it can take 5 to 7 years for a patient with a rare disease to receive an accurate diagnosis—which can be the gateway to appropriate treatments and access to life-saving clinical trials—a panel at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit) held in Washington, DC, delved into specific associated challenges and how providers might overcome them.

Ellen Matloff, MS, GCG, genetic counselor and CEO of My Gene Counsel, kicked off the discussion by touching on the misconceptions and confusion surrounding genetic testing since “genetic testing can mean so many different things.” She explained that genetic testing can have a wide range of variants, ranging from newborn screening, to whole genome testing, to 23andMe testing.

She stressed that finding a certified genetic counselor who can help walk a patient through the best diagnostic tests for his or her individual case is of the upmost importance. Genetic counselors can be found through the National Society of Genetic Counselors—as well as other agencies and organizations—and are available via phone.

Jaimie Vickery, vice president of policy and advocacy for Cure SMA, added that another major challenge for disease patients is getting them in front of someone who can recognize the disease for what it is. The primary family doctor often doesn’t know what the specific rare disease in question is, and so, they often are not able to recognize it or don’t know what to do if presented with one. She also stressed the importance of timely diagnoses as they can be pivotal in preventing further damage. For most diseases, especially rare ones, preventing damage is much easier than repairing it.

Matching a patient with a diagnostician who can diagnosis them is no easy feat though. The panel explained that while diagnostic availability is out there, the diagnosticians who can make the diagnoses are limited.

However, connecting with the health care professionals who have seen these types of patients in their practices can help, as these individuals can provide education. Showing providers how to recognize when something doesn’t look right and what to do next can make all the difference in a patient’s life.

With the shortage of health care providers and physicians in rare diseases, the panel emphasized that phenotypes should be taken advantage of in this digital age. By using and sharing phenotypes, a worldwide database can be built, which would help genetic counselors and physicians make more accurate and timely diagnoses, according to Matloff.

However, there is also a large subset of individuals who have multisystemic diseases, which can make the diagnostic process all the more difficult. For this reason, the panel stressed that finding a medical professional who can take care of all the aspects (symptoms, genetics, familial history, medical history) of these types of patients is important, as is finding medical institutions that can take charge in assigning these patients to a diagnostician who they know can take all these aspects on a patient. Certified genetic counselors can greatly assist with this process and point patients in the direction of the right specialist.

For Matloff, the take-home message was that everyone needs to jump into genetic testing. “There are many different genetic tests, and they are not all equal and of high quality,” she said. “You need a guide to help you get the right genetic test, you need your personal and family history, and you need to keep a diary. Things that you think are irrelevant could be completely relevant. These are all things that could truly help tie the entire diagnosis together.”

The panel included Ellen Matloff, MS, GCG, genetic counselor, CEO of My Gene Counsel; Shannon Resetich, head of Rare Diseases, North America at Sanofi Genzyme; Jaimie Vickery vice president of policy and advocacy for Cure SMA; Cederroth Helene, founder and president of Wilhelm Foundation; and William Gahl, MD, PhD, clinical director of the National Human Genome Research Institute at the National Institute of Health (NIH).

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