REVIEWING COURTAGEN REPORTS

Options for Dr. Boles to interpret Courtagen DNA sequencing reports:

Introduction: Many families have been contacting Dr. Boles asking him to interpret Courtagen reports. In some cases, the reports are relatively old and the family still has questions following a discussion of the results with their physician(s). In other cases, the testing was performed in the last couple of months before Courtagen stopped operations, and the ordering physician did not have an opportunity to discuss the results with Dr. Boles.

Potential Benefits:
• Better understanding on your child: A discussion of the results with the physician, and particularly with the family, provides a better picture of the patient with the disease, and thus can often identify candidate variants that fit the patient well, but were not recognized as such by the laboratory due to incomplete clinical information.
• Multifactorial, polygenic, and functional/integrative disease: These are not concepts that are intrinsic parts of a standard genetics education, or of standard laboratory reporting. However, Dr. Boles will interpret the report per these concepts, as well as per the standard methodologies.
• Treatment orientation: Dr. Boles’ primary purpose in reading reports is to identify potential treatment options for you and your physician to consider. This is NOT performed as part of standard laboratory reporting.
• Candidate variants and therapies: Dr. Boles will interpret reports not only in terms of what treatments are available for any disease that the DNA sequence proves is present, but also based on sequence variants that may or may not be disease related, but in which a benign therapy might exist.
• “Negative” reports may not be negative: Because of the above considerations, it is fairly frequent that a “benign”, “likely negative”, or “equivocal” report will turn out to have potential treatment options.
• In writing, to provide to other physicians: A written record of Dr. Boles’ interpretations is of obvious utility.
• Details: For more details regarding how Dr. Boles interprets DNA sequence data, please see the sections under the menu heading “CONCEPTS” on his website at www.molecularmitomd.com.

Obstacles:
• State licensure: The above interpretation, provided to the family, is the practice of medicine. It is illegal in a telemedicine setting for Dr. Boles to provide this service to families that live in a state that he does not have a medical license. At present, Dr. Boles only has a medical license in California.
• Telemedicine requirements: At present, Dr. Boles does not have the required HIPAA-compliant telemedicine equipment or malpractice coverage. Thus, he cannot today provide this service by telemedicine even in states where he has a medical license.
• No longer a consultant for Courtagen: In the past, Dr. Boles provided “peer-to-peer” education regarding DNA reports directly to the ordering physician. This was provided as part of his job responsibilities at Courtagen, under their insurance and HIPAA mandate. This is no longer possible, as Dr. Boles has no current connection with Courtagen.

Your Current Options:
• Pasadena, California: You and your child (or just you, if a young adult) can travel to Pasadena, California to become his patient, at least for a single evaluation. The sections under the menu heading “CONCEPTS” and “LOGISTICS” on his website at www.molecularmitomd.com detail that option.
• Orange County, California: If your child is on the autistic spectrum, another option is for your child to become Dr. Dan Rossignol’s patient, who is a great autism doctor in Aliso Viejo, California (in southern Orange County). Dr. Boles provides less comprehensive evaluations at the Rossignol Medical Center to discuss genetic testing options and what the results mean. A section under the menu heading “AUTISM” on his website at www.molecularmitomd.com details that option, or see Dr. Rossignol’s website at https://www.rossignolmedicalcenter.com.

Potential Future Options:
• New Jersey and Philadelphia: Dr. Boles is planning on going into telemedicine, hopefully by the end of 2017. In coming months, Dr. Boles will be providing telemedicine services to patients of Dr. Mark Mintz and his colleagues at the Center for Neurological and Neurodevelopmental Health https://cnnh.org/about-cnnh/meet-our-staff/mark-mintz-md. CNNH provides a wide range of pediatric neurology services in the Southern Jersey and Philadelphia areas, and is a leader in the field, especially regarding the neurology and neurogenetics of epilepsy and autism. The obstacle is the time required to get New Jersey and Pennsylvania state medical licenses.
• Florida: Dr. Boles is planning on providing telemedicine services to patients in connection with Dr. Rossignol’s Florida office in Melbourne (outside Orlando). The obstacle is the time required to get a Florida state medical license.
• Elsewhere? Telemedicine services will likely be expanded to additional states some time in 2018, however, the logistical and financial costs of obtaining licenses in all 50 states is oppressive. Thus, only selective states will be included, likely the more-populous states and ones with a disproportionate interest in genetic testing. States included will be listed on Dr. Boles’ website and featured on the Facebook page as they are added to the list.