{"id":542,"date":"2020-02-09T18:41:05","date_gmt":"2020-02-09T18:41:05","guid":{"rendered":"http:\/\/molecularmitomd.com\/?page_id=542"},"modified":"2024-06-08T15:11:03","modified_gmt":"2024-06-08T15:11:03","slug":"overview-of-dr-boles-practice-neurodevelopmental-disorders-including-autism","status":"publish","type":"page","link":"http:\/\/molecularmitomd.com\/?page_id=542","title":{"rendered":"Overview of Dr. Boles’ practice: Neurodevelopmental disorders, including autism"},"content":{"rendered":"

The Genetics of Neurodevelopmental Disorders:<\/strong><\/p>\n

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.<\/p>\n

One of Dr. Boles\u2019 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:<\/p>\n

    \n
  1. Ade novo<\/em>new mutation, meaning a sequence variant in the DNA that is absent in both parents.<\/li>\n
  2. No single \u201ccause\u201d of disease is identified, but multiple genetic risk factors are present, generally inherited from both parents.<\/li>\n<\/ol>\n

    Genetic Testing of Neurodevelopmental Disorders:<\/strong><\/p>\n

    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:<\/p>\n

      \n
    1. Whole genome sequencing (WGS) is the appropriate test in most cases. WGS from some laboratories not only sequence all of the genes and areas between genes, but also provides much additional information not available by WES:<\/li>\n
    2. mtDNA sequencing.<\/li>\n
    3. Structural rearrangements, including deletions and duplications, with better detection than chromosomal microarray (CMA).<\/li>\n
    4. Trinucleotide repeats, including fragile X.<\/li>\n
    5. Pharmacogenetic variants that affect drug metabolism, effectiveness, and adverse effects.<\/li>\n
    6. Trio testing (sequencing the patient and both parents) is appropriate in most cases, in order to findde novo<\/em>variants.\u00a0De novo<\/em>\u00a0variants are fairly common, present in about a third of cases with disease beyond the mild end of the spectrum, and often indicate the \u201ccause\u201d of the disease.<\/li>\n<\/ol>\n

      Dr. Boles Practice:<\/strong><\/p>\n

      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:<\/p>\n

        \n
      1. Take a very-detailed analysis of the case, in order to really understand the disease process, the unique individual that is your child, and the family.<\/li>\n
      2. Re-analyze the raw DNA sequencing data files from the genetic laboratory, not simply analyze the findings identified and reported by the laboratory.<\/li>\n
      3. Advise and assist you in treatment based on the genetic results and other aspects of the case, as well as with the ongoing management of complex genetic findings.<\/li>\n<\/ol>\n

        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.<\/u>\u00a0Unfortunately, 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.<\/p>\n

        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.<\/p>\n

        Logistical and Cost Structure:<\/strong><\/p>\n

          \n
        1. The initial visit is $1,200 and averages 2-3 hours via telehealth call. Dr. Boles needs to understand your child in detail to apply the results of the 30,000-plus genetic variants present in an average person. Generally, some treatments are discussed, recommended, and\/or prescribed at this first visit, based on the information gathered to date.<\/li>\n<\/ol>\n
            \n
          1. After discussion of the options and full informed consent, the appropriate testing is ordered. Dr. Boles\u2019 experience is that about 75% of autism cases are covered by insurance if you have a PPO, and if he orders the testing personally. If insurance will not cover costs, self-pay options are available. Prices depend on what exact testing is indicated, and this is determined individually for each patient. Trio WGS is generally indicated in moderate to severe cases of any NDD. At the time of this writing (06\/2024), the self-pay price for trio WGS is $2,100, which is lower than not long ago, and may come down again. Dr. Boles only orders from genetics laboratories that cap the costs, meaning there are never hidden payments, such as if the insurance company changes its mind.<\/li>\n<\/ol>\n
              \n
            1. Interpretation costs are generally $1,500 and self-pay, whether only the child is sequenced or trio, and is separate from laboratory billing discussed above. This process takes many hours, in which Dr. Boles carefully matches the thousands of variants to the detail of your child and disease.<\/li>\n<\/ol>\n
                \n
              1. Follow-up visits are always $500, whether in person or via telemedicine. Generally, the genetic testing results are discussed during the first follow-up visit, often about 6 months following the initial visit. In addition, Dr. Boles follows up with the results of all therapeutic interventions discussed at the initial visit, and obtains a detailed update on how your child is doing. This “visit” can occur via telemedicine to any state, as this is a follow-up of the plan created in a state whereas he is licensed. If Dr. Boles will continue to follow your child, licensing laws require him to evaluate your child at least annually in a state whereas he is licensed (currently AZ, CA, FL, NJ, and PA).<\/li>\n<\/ol>\n

                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.<\/p>\n

                Multiple Patients:<\/strong><\/p>\n

                Dr. Boles offers a 50% family discount for Initial and DNA Follow Up appointments for all family members beyond the first seen. Please note, this discount can only be applied if the family member has a similar disorder. If the family member has very different symptoms, please contact our office to discuss pricing options.<\/p>\n","protected":false},"excerpt":{"rendered":"

                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\u2019 major focuses over the last decades has been […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-542","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/542","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=542"}],"version-history":[{"count":3,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/542\/revisions"}],"predecessor-version":[{"id":629,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/542\/revisions\/629"}],"wp:attachment":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=542"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}