ResearchPUBMEDApr 12
Researchers in Canada studied 715 patients with rare diseases who had their entire genome sequenced (a test that reads all of a person's genetic code). The study found that genome sequencing helped doctors in many ways: it confirmed diagnoses in some patients, changed how doctors treated 36% of patients, found new research opportunities, and identified genetic information that relatives should know about. The test also helped doctors avoid unnecessary tests in 88% of cases.
WHY IT MATTERSIf you have an undiagnosed rare disease, this research shows that whole genome sequencing can help your doctor find answers and change your treatment plan — and it may also reveal important genetic information for your family members.
ResearchPUBMEDApr 1
Researchers in Italy tested a new way to diagnose rare genetic diseases in children using whole genome sequencing—a test that reads all of a person's genetic code. Between 2018 and 2022, they studied 64 children with complex neurological problems that doctors couldn't figure out. This study shows whether this genetic test could help find answers faster for kids with mysterious rare diseases.
WHY IT MATTERSIf your child has unexplained neurological symptoms and multiple doctors haven't found a diagnosis, this research demonstrates that whole genome sequencing through healthcare systems may finally provide answers—potentially ending years of diagnostic uncertainty.
ResearchPUBMEDApr 1
Researchers tested whether people could get genetic testing (genome sequencing) without always needing to see a genetics specialist first. They studied 313 people of all ages who had unexplained symptoms and could refer themselves or be referred by any doctor. The study found that people who referred themselves were just as likely to get a diagnosis as those referred by specialists. This suggests a new way to make genetic testing available to more people while still having genetics experts review the results.
WHY IT MATTERSIf this hybrid model works, patients with rare diseases could access genome sequencing faster and more easily without waiting for a genetics specialist appointment, potentially shortening the diagnostic odyssey that many rare disease patients experience.
Clinical trialCLINICALTRIALSMar 27
Researchers in France are recruiting 5,000 newborns to test a new way of screening for rare diseases using genome sequencing—a complete reading of a baby's DNA. Instead of the current blood spot tests that check for only a few dozen conditions, this study will see if reading a baby's entire genome can safely and effectively find many more rare genetic diseases at birth. This is one of the first major studies in Europe to test this approach.
WHY IT MATTERSThis trial could expand newborn screening in France to detect dozens of additional rare genetic diseases at birth, potentially allowing earlier treatment and better health outcomes for babies with conditions that currently go undiagnosed until symptoms appear.
ResearchBIORXIVMar 27
Researchers studied how getting a genetic diagnosis through whole genome sequencing (a test that reads all of a person's genes) affects how much healthcare seriously ill children need over time. They looked at medical records from children in the UK between 2016 and 2020 to see if knowing the genetic cause of their illness changed how often they visited doctors, went to the hospital, or needed other medical care.
WHY IT MATTERSIf you have a seriously ill child undergoing genetic testing, this research will help show whether getting a diagnosis actually changes how your child's care is managed and how often you'll need medical visits going forward.
Clinical trialCLINICALTRIALSMar 26
Researchers are recruiting 2,000 people with rare genetic disorders to participate in a study using a new technology called genome sequencing. This technology reads a person's entire genetic code to find which gene is causing their disease. The goal is to help doctors better diagnose and treat patients with rare conditions that are hard to identify with current testing methods.
WHY IT MATTERSIf you or a family member has an undiagnosed rare disorder affecting development or birth defects, this trial could identify the genetic cause—potentially opening doors to targeted treatment and genetic counseling for relatives.