The Genetics of Neurodevelopmental Disorders:
The last few years has demonstrated continued rapid improvements in terms of the technology enabling genetic testing, the number and types of genetic tests that are clinically and commercially-available, and the knowledge base used to interpret test results.
One of Dr. Boles’ major focuses over the last decades has been in the care of neurodevelopmental disorders (NDD), including autism, ADHD, intellectual disabilities, epilepsy, and other conditions. The NDDs are very highly genetic in etiology, and the genetics is extremely complicated. Some of the more frequently-identified genetic scenarios are:
Genetic Testing of Neurodevelopmental Disorders:
There are hundreds of genes that have been demonstrated to be associated with the NDDs, and thousands more in the same pathways that likely are associated with them. Variants in these genes can be of any size, ranging from a single nucleotide to millions of nucleotides. These variants can be in the chromosomes or in the mitochondrial DNA (mtDNA). They can be novel (never seen before) or quite common (risk factors). Sometimes they affect repeat sequences, such as fragile X. Finally, these variants can be within genes, or in-between genes, meaning they would be missed by whole exome sequencing (WES). This extraordinary genetic heterogeneity means:
Dr. Boles Practice:
Genetic laboratories issue standard reports that are constrained by narrow interpretations, or are non-specific and non-committal, resulting in much confusion for providers and patients. Risk factor variants are generally neither identified nor discussed. Laboratories also have a very limited understanding of the complexities of the disease in the individual patient, and family. However, Dr. Boles will:
The primary focus is always on finding effective treatment. Many of the genetics pathways associated with NDDs are treatable, often including energy/mitochondrial metabolism, other metabolic pathways, ion channels, and neurotransmitters. Unfortunately, not every patient receives a diagnosis, not every variant is treatable, and not every treatment tried is successful. However, Dr. Boles results at this time include some degree of improvement in most children, and at least moderate improvement in about half of them. Having essentially the entire DNA sequence on file also allows for additional treatment options as knowledge increases.
Dr. Boles is a pediatrician, but he does see a limited number of young adults who are in their 20s at the time of the initial visit.
Logistical and Cost Structure:
Dr. Boles is not in-network anywhere, and his practice is self-pay (cash, check, credit card, PayPal), including all visits (#1 and 4 above) and sequencing interpretation costs (#3 above). You will receive a superbill to assist you to submit for out-of-network reimbursement. Some families receive full reimbursement, some nothing, and many somewhere in-between. It is difficult to predict.
The NDDs are highly genetic, and oftentimes more than one family member is affected, especially affected siblings. Many families will choose to have only the more-affected child as the “patient”, and pay the above-listed costs only. Findings identified and treatments discussed regarding the “patient” often apply to other family members as well. Other families will choose to have both siblings evaluated as “patients”. The cost for this is $1,000 per patient for initial visit (instead of $1,200), and follow-up costs remain $500 per patient. DNA testing interpretation costs are $1,000 for the first patient, and $500 for every patient thereafter.