The American College of Medical Genetics and Genomics now recommend genetic testing for all children who have any intellectual disabilities. The medical association published a new study titled “Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)”
“Our committee included 10 experts in clinical genetics, neurogenetics, genetic counseling, a parent and advocate and methodologists. We expect this (evidence-based clinical practice guideline) will help to raise the quality and consistency of health care and improve outcomes for patients with rare genetic disorders,” explained Dr. Fuki Marie Hisama and Dr. Murugu Manickam.
Analysis of genetic variations in DNA may be conducted using two methods: exome sequencing and genome sequencing. A child’s test results will indicate if he or she has an identifiable condition. The new guidelines do not preclude using exome and genome sequencing for an individual with autism alone, but they do emphasize that their use in this group is still under investigation.
The study published by the medical geneticists’ organization strongly supported testing. It can be used for early detection of genetic conditions in children, even at a young age, as well as in children that have delays or intellectual disabilities.
The final results of the study support the “clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.” Testing would help patients get answers early, which can improve their outcomes and reduce their stress, as well as the pressure that is put on their families.