Molecular Medicine

DNA sequencing (also known as genetic or molecular testing) is an integral aspect of the medical care model utilized by Dr. Boles, and is an important component of this practice. Recent advances in genetics have exploded in the last several years regarding the genetic factors that can contribute towards the functional and autistic spectrum disorders. Unfortunately, very few physicians use this advancing knowledge, even at the major medical and academic centers.

One way that this practice is rather unique regards Dr. Boles’ integrative genomic approach to medicine. Most geneticists look at the sequence variants identified to determine if any can be reasonable established to be the cause of disease. Dr. Boles does this as well. However, he also looks at the sequence variants to see if any might be risk factors that might predispose towards disease. These then constitute a list of “candidate variants” for which he discusses what meaning, if any, they might play in the disease process in you or your child, and specifically what therapies might address each variant. If a particular candidate variant makes sense in you/your child, in order words it seems to fit the patient well, and there is a relatively-benign therapy that might address the issue, then Dr. Boles would discusses the pros and cons of such treatment. This approach generally results in the identification of one or more candidate therapies in most patients, of which some are helpful and some are not.

One concept that frightens many physicians and families alike is the VUS, or Variant of Uncertain Significance. These variants may or may not be related to disease, as they cannot be said with confidence to be disease related or benign. Generally, when many genes are sequenced, many VUSs are identified. While most are likely benign and unrelated to the disease in the patient, any single VUS might be disease related. It is often among the VUSs that candidate variants are identified. Most laboratories do not call out the VUSs that they identify, or they simply list them with little interpretation. However, Dr. Boles looks at each VUS as more of an opportunity than as a nuisance. A careful look at each often reveals candidate variants as described above, and not uncommonly one or more VUS turns out to suggest a therapy that is attempted and is beneficial.

Dr. Boles was a full-time consultant to Courtagen Life Sciences Inc. until the company went out of the clinical testing business in June 2017. In the future, Dr. Boles may serve as a consultant to other laboratories, and thus may benefit financially upon the success of that company. However, Dr. Boles will always provide you with the best options for you/your child to suit your/your child’s individual needs. This is the case whether Dr. Boles has a financial interest in the company providing the test, the test is offered by a competitor, or neither of the above. Dr. Boles will tell you if he has a financial interest in any laboratory or product that he recommends. You are under no obligation to choose any testing or products recommended by Dr. Boles whether or not he has a financial interest in it.