Summary of an article by Dr. Richard G. Boles entitled: Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
The full study can be accessed [here).
1/24/24
In a groundbreaking research study published on January 18, 2024, Dr. Richard G. Boles and his research group investigated the genetic basis of autism spectrum disorder (ASD). The study involved analyzing DNA sequencing data from fifty individuals with autism through trio-whole genome sequencing (WGS) and Comprehensive Sequence Reanalysis (CSR). The key findings are:
- Identification of Genetic Variants:
– In 68% of cases, a DNA variant (mutation) was identified as the primary cause of autism.
– Most of those primary variants were de novo (new), occurring in the individual and not inherited from parents.
One half of the individuals had a de novo variant believed to be the main cause of autism.
– 20% of the primary variants were inherited from one or both parents.
- Lab Report Accuracy:
– Only 41% of identified primary variants were listed in the laboratory report.
– 22% of cases had a de novo primary variant in a gene without prior reported case reports, meaning these were newly-discovered diseases.
- Clinical Impact and Treatment Recommendations:
– Genetic information led to changes in treatment for 66% of cases.
Dietary supplements were recommended in 60% and prescription medication in 48%.
– Although not in the report, per Dr. Boles about half of the patients showed clinical improvement based on treatments suggested by DNA findings.
- Implications and Discussion:
– De novo mutations were found to be the main cause of autism according to the study.
– The research suggests that trio-WGS and CSR can identify the primary cause of autism in most cases.
– The study raises questions about the role of environmental factors in the increasing number of autism cases, including by potentially increasing the DNA mutation rate.
– “Bad news” regarding genetic implications not related to autism was very rare (one family out of 50).
- Translational Advice:
– Encourage individuals to undergo genetic (DNA) testing without fear, as it often leads to new treatment options and rarely to “bad news”.
– Emphasize the importance of specific testing methods (trio WGS testing followed by CSR) for better results.
– Recommend seeking healthcare providers experienced in treating autism, particularly functional/integrative providers who are comfortable with dietary/food supplements.
– Advocate for dietary/food supplementation, particularly addressing treatable pathways like mitochondrial dysfunction.
- Disclosures:
Dr. Boles is the Chief Medical & Scientific Officer for NeuroNeeds LLC, the company that makes products such as SpectrumNeeds®, EnergyNeeds®, QNeeds®, and CalmNeeds®. As such, he may receive financial compensation based upon by efforts and/or the success of the company. You are under no obligation to purchase this or any products, whether recommended by Dr. Boles or another health care provider. As always, it is recommended that you contact your physician regarding these products and all other changes to disease management.
The Content within this article and NeuroNeeds Blog is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this Blog.