Rogers Research Center is leading the way in exploring the connection between rare genetic disorders and mental health symptoms. Read on and watch the video below to learn more.
It’s not easy to be left in the dark about your health, especially when symptoms persist without clear answers.
This period of uncertainty has a name. Sheldon Garrison, PhD, research scientist at the Rogers Research Center, calls this the diagnostic odyssey: the time between the first appearance of symptoms and an accurate diagnosis of a rare genetic disorder.
“Just not having an answer is very difficult,” Dr. Garrison says.
Left in the dark: When the path to diagnosis takes years
Half of health care costs in America are attributable to rare genetic diseases, which impact about 10% of people, Dr. Garrison says.
“It’s disproportionate,” he says. But beyond the financial cost is the human cost: the challenges that come without answers and proper treatment.
For most people, treatment at Rogers Behavioral Health helps them get better. But for a small portion of patients, the path forward isn’t as clear.
Dr. Garrison estimates more than 2% of patients treated at Rogers may have an underlying rare genetic disease, which can be the underlying cause of mental health symptoms. That can make it harder to find the answers and treatment approach that fits best.
“That is an important and impactful portion of our patients,” Dr. Garrison says. “If a rare disease is driving mental health symptoms, we need to know.”
For individuals living with rare genetic diseases, the diagnostic odyssey is often measured not in months, but in years.
“Our best evidence in the mental health space shows it can take somewhere between seven and a half to a little over nine years from the first symptom to a diagnosis,” Dr. Garrison says.
When symptoms are caused by an undiagnosed genetic condition, traditional mental health treatments may not be fully effective.
“If someone is going nine years on treatments that aren’t really tailored to them as an individual, that’s a problem,” Dr. Garrison says. “And I think we can really shift that, from nine years down to weeks or months.”
Building a bridge to faster care
At the Rogers Research Center, Dr. Garrison’s work is driven by the individuals and families navigating these challenges. He works closely with advocacy groups and knows the difference earlier detection can make in treatment and healing.
“I get inspired by the people,” he says. “And then I try to bring that into the research that we’re doing here.”
That work has already helped identify more than 100 rare genetic conditions that may underlie mental health symptoms. Dr. Garrison looks forward to future research, including screening samples from the Rogers Research Center Biobank to better understand how undiagnosed genetic diseases may influence mental health, as well as how providers can identify them sooner.
“There are very few places in the world working on this type of project,” Dr. Garrison says. “We’re proud to be one of the pioneers in that space.”
That research can help build a bridge across the diagnostic odyssey, lighting the way toward faster and more personalized treatment.
“My mission is to do something bigger, better, and different than what’s currently being done – something that helps everybody: the patient, the family, and the treatment team,” he says. “Rogers really supports that part of my job. That’s what I love about it.”
Recent publications:
Rogers researchers regularly contribute to rigorous work that is published in peer-reviewed journals, including these recent articles related to rare genetic diseases:
- A scoping review identified 108 rare genetic diseases in which mental health symptoms were a core part of the disease but often hid the underlying diagnosis, leading to a nearly 8-year average diagnostic delay and emphasizing the importance of earlier genetic testing and disease-specific treatment.
- A systematic review of more than 1,800 unique patient cases found a mean diagnostic delay of about 9 years for 84 rare genetic diseases with underlying mental health symptoms – a delay that has not improved in the past 65 years, underscoring the importance of earlier genetic testing.
- A case study of a 7-year-old with the rare genetic disorder involving the deletion of chromosome 4 found that related behaviors may parallel those of children with autism, highlighting the success of behavioral interventions.
