Rare Diseases: Pathways to accelerating diagnoses 

Many of us have seen stories in the news about American families on diagnostic odysseys for their children with rare diseases. Recently, the Today Show highlighted Courtney (she asked that only first names be used), who visited 17 different doctors over three years to help diagnose her young son Alex,  who she was watching suffer and decline before her eyes.  

Which one of those 17 doctors ultimately was able to pull together the pieces of Alex’s health picture and suggest a diagnosis? None of them. It was the AI program ChatGPT.  Frustrated by her lack of progress and the fact that it was complicated to bring together all the disparate medical reports and conclusions, she entered all of Alex’s symptoms and MRI results into ChatGPT, which subsequently suggested the possibility of tethered cord syndrome, a treatable condition that a follow up appointment with a neurosurgeon confirmed.  

More and more, doctors, researchers, and families are turning to technologies like AI and even Google to help them decode health symptoms and get on the road to solutions and treatments. In fact, the National Organization for Rare Disorders (NORD) released a study in 2020 revealing that “the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease discussed a new pilot program…that uses artificial intelligence (AI) to recognize symptoms based on medical records, patient-reported data and genetics data, and in testing has resulted in the identification of a diagnosis 79% of the time.”¹ 

Besides harnessing technology, doctors and families have two other tools they can use much earlier in their journeys to help them diagnose a rare disease: Newborn screenings and genetic carrier screens.  

About carrier screening

Lastly, there is a screening that couples can turn to far earlier—before they choose to pursue pregnancy: genetic carrier screening, where small genetic samples are taken from each person and screened for rare conditions the couple might both carry.  

The NORD report notes: “Genetic testing…is being increasingly utilized to help diagnose rare diseases, the majority of which are genetic in origin. Knowing your diagnosis and any genetic variation related to your medical condition can help you participate in research, connect with others in similar situations and know what therapies are safe to take. Alternately, any delays in diagnosis may not allow for patients to get the maximum benefit from available treatments, or may cause patients to miss a treatment window entirely, and can slow our collective ability to drive progress and cures.” 

Myriad Genetics’ Foresight^® Carrier Screen looks for up to 176 genetic conditions associated with serious and prevalent inherited conditions, such as Krabbe, SMA, and cystic fibrosis. The benefits to genetic screening when it comes to these rare diseases is apparent:  

“If a couple is identified as ‘at-risk,’ their choices are to do prenatal diagnostic testing like an amniocentesis or to test the baby immediately after birth so they can manage the child’s condition accordingly,” says Katie Ziegler, certified genetic counselor and a medical science liaison at Myriad. If the couple knows that they are at-risk by screening even before they pursue pregnancy, there are also good options open to them such as IVF or using a donor egg/sperm, to name two. 

So, while AI can be helpful to questing doctors and families, carrier screenings and newborn screenings are a more proactive approach to diagnosing rare diseases. This early knowledge can save time, and in some cases, it also can save lives.  

References

1. National Organization for Rare Disorders (NORD). Barriers to Rare Disease Diagnosis, Care and Treatment in the US: A 30-year Comparative Analysis. 2020. https://rarediseases.org/wp-content/uploads/2020/11/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf. Accessed February 2023.