The American College of Medical Genetics and Genomics strongly recommends exome and genome sequencing as a first or second-tier test for children with developmental delay or intellectual disability that occurs by age 18, as well as those with congenital anomalies that onset by age 1, in its ACMG Practice Guidelines, published July 2021.
Cure Sanfilippo Foundation applauds the American College of Medical Genetics and Genomics’ recommendation.
Seeing developmental delays in their child is often what leads parents of children with Sanfilippo Syndrome and other diseases to seek answers, starting with their their pediatricians.
Rare disease patients average eight physicians and three misdiagnoses over the span of seven years before the correct diagnosis is discovered. Studies show that diagnoses in economically-disadvantaged areas and rural areas take even longer.
The “time to diagnosis” for rare disease patients in first-world countries hasn’t changed in 30 years. Generally, persons of color or living in rural areas are less-commonly or less-timely diagnosed, especially when early disease features are behavioral or developmental.
Most children with Sanfilippo and other rare diseases are eventually referred to a genetics specialist, which takes months to a year to get an appointment.
This extensive and excruciating “diagnostic odyssey” causes children to miss critical windows of opportunity for treatment, improved quality of life, and clinical trials, in addition to experiencing anguish and chronic uncertainty.
The American College of Medical Genetics and Genomics’ recommendation for exome and genome sequencing at the first signs of developmental delay would enable patients and their families to get a diagnosis years sooner and access treatment or clinical trials immediately.
“Many clinicians adopt a ‘wait-and-see’ approach to symptoms, prolonging diagnosis,” said Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “In this age of diagnostic testing, a deeper evaluation of medical and genetic causes should be investigated at the first signs of developmental delay. Clinicians need to change this mentality and pursue a full medical workup versus this outdated approach, which benefits all patients with rare diseases.”