NGF Blog


Gaucher and Other Rare Genetic Disease Diagnosis

According to recent research, as many as 14 percent of people with Gaucher disease wait seven years or more for their doctors to correctly identify the cause of their symptoms. Doctors frequently mistake Gaucher disease for other medical conditions or illnesses. As a result, people living with Gaucher disease often undergo unnecessary diagnostic procedures and potentially harmful treatments aimed at other illnesses and ailments.

The good news: NGF is working toward developing better tools to make it easier to recognize symptoms and link them to Gaucher disease. As we progress in these endeavors, the goal remains the same: to help patients receive an accurate, timely diagnosis so they can achieve optimal functioning. One such tool, ThinkGenetic SymptomMatcher, is already helping make this goal a reality, says Deepti Babu, Vice President of Communications and Patient Advocacy at ThinkGenetic, Inc.

Gaucher disease diagnostic woes

Gaucher disease is a rare inherited condition, affecting only one person out of 40,000 people in the general population. But this pales in comparison to other diseases. For example, in the United States alone, an estimated 1.6 million people will receive a cancer diagnosis and more than 30 million people are living with diabetes.

Many early signs and symptoms of Gaucher disease mimic those found in other illnesses and health conditions. A large number of these symptoms, like nosebleeds, fatigue, and bone pain, can be indicators of a broad range of common problems, including infections, colds, flu, and accidents resulting in cracked or broken bones.

As a result, health care providers may not take the signs and symptoms of Gaucher disease seriously at first. Even the hallmark signs of Gaucher disease, such as enlarged spleen (splenomegaly), can be caused by other issues like infections, metabolic disorders, or certain cancers.

The rarity of Gaucher disease, together with common signs and symptoms patients experience, present a significant diagnostic challenge to healthcare providers and patients alike.  When people experience Gaucher disease symptoms, they often turn to general practitioners or family doctors for help. But in most cases, these physicians aren’t trained to recognize certain symptoms, like enlarged spleen and nosebleeds, as subtle hints of Gaucher disease.

“Most primary care providers have so many patients, so as part of the diagnostic process, they also have to think about the likelihood patients may have certain diseases,” says Babu. “The average provider is likely to see only a very small number of patients with Gaucher disease. So when they see patients with symptoms seen in more common conditions, Gaucher disease is probably not the first thing that comes to mind.”

Part of overcoming diagnostic challenges involves patients and families partnering with healthcare providers in a more educated, informed state. Beyond formal educational and outreach programs aimed at increasing awareness of rare genetic diseases like Gaucher disease, new technologies are helping fill the knowledge gaps that exist for both patients and healthcare providers.

A new diagnostic aid for genetic diseases

Virginia-based health and wellness company ThinkGenetic, Inc. is tackling the issue head-on. The company’s mission is to use artificial intelligence solutions to help individuals living with genetic diseases — including Gaucher disease — receive accurate healthcare information that leads to a faster diagnosis. The company’s new diagnostic aid, ThinkGenetic SymptomMatcher, is designed for people already searching for answers about their symptoms.

“We are developing ThinkGenetic SymptomMatcher to shorten the diagnostic journey for people with genetic diseases,” explains Babu. “But instead of aiming this directly at busy clinicians, ThinkGenetic SymptomMatcher empowers patients and families to channel their energies and work with their healthcare providers to quickly arrive at an accurate diagnosis.”

SymptomMatcher matches self-reported symptoms with genetic diseases known to cause those symptoms. The system relies on a medically-driven diagnostic algorithm to make these links. SymptomMatcher users progress through an online guided module that captures and identifies the hallmark signs of different genetic diseases. It’s possible to be matched to more than one genetic disease possibility, depending on your symptoms.

ThinkGenetic SymptomMatcher presents health information in user-friendly, easy-to-understand terms instead of complicated medical jargon. Patient experience stories written by genetic counselors are also displayed, allowing visitors to rate whether they can identify with the symptoms presented.

“Sometimes, you can’t capture what’s going on in a checklist. It’s just a feeling you have. We work closely with our advocacy group partners to make sure the patient experience stories are realistic and relatable so people can get as close to an accurate explanation for their symptoms as possible” says Babu.

Once a person completes the guided module, they receive a printable tear-sheet to take to their doctor. The sheet lists possible genetic disease explanations their symptoms matched with based on the information entered into the program. Additionally, the tear sheet contains helpful details about genetic testing and how a diagnosis can be easily confirmed with simple procedures like blood tests. The next best step is a conversation with their doctor and an exploration of diagnostic possibilities based on their results.

ThinkGenetic will release its free, easy-to-use ThinkGenetic SymptomMatcher in December. The company is aiming for a launch that includes information for as many as 100 different genetic diseases, with plans to add many more into the system over time.

As advocacy partners, NGF and ThinkGenetic are working to provide more information about Gaucher disease to individuals, families, and potential patients as they begin their diagnostic journeys. “There is so much information out there, so we work with groups like NGF to act as a kind of filter to help people in the journey they’re already taking. We strive to be a trusted partner for guidance and information by pointing people toward resources we know about from our advocacy partners,” says Babu.


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