How can genetic testing reports help me or my child? What are the risks and obstacles? How can Dr. Boles help?

The main benefit of genetic testing is the potential to determine what causes the disease and/or
which factors contributes to the disease. The goal is to arrive at a better understanding of disease,
and in particular to use that knowledge to guide better treatment and other disease management.
The likelihood of finding something that makes a real clinical difference varies from situation to
situation, and is dependent on:
1. The type and severity of disease
2. The age of the patient (younger = higher likelihood)
3. The technical and interpretative skills of the testing laboratory
4. The abilities of the physician reading the report and translating the findings into medical
practice.

Not surprisingly, given the complexity and amount of genetic information, the last item above is
oftentimes the obstacle.

What are the potential advantages of having Dr. Boles interpret your genetic reports?

• A better understanding of you/your child:Testing laboratories generally has only a
  fraction of the information that a treating physician has regarding the person, disease, and
  family history. A better understanding of the patient with the disease, and the family
  history, can often identify candidate variants that fit the patient well, but were not
  recognized as such by the laboratory due to incomplete clinical information. In a Peer-to-
  Peer telephone conversation with your physician, limited medical records are sent to Dr.
  Boles for his review, your/your child’s case will be discussed, and then the genetics
  report(s) will be discussed to determine how the results might apply to you or your child.
  In a full consultation, Dr. Boles will obtain this information directly from you, as well as
  the medical records provided.
• 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 standard
  methodologies.
• Treatment orientation and candidate variants:Dr. Boles’ primary purpose in reading
  reports is to identify potential treatment options for you and your physician to consider.
  Additionally, 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 in which a benign therapy might
  exist. This is NOT performed as part of standard laboratory reporting.
• “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.
• Information provided in writing: In the Peer-to-Peer service, a summary written record of
  Dr. Boles’ interpretations will be sent to your physician, which can be forwarded to you
  and your other physicians. In a full consultation, an extensive note will be provided to
  you.
• 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.

• Price: Economics is not nearly the obstacle that it was even a year ago in genetic testing.
  While it is true that many families find that their insurance company has denied coverage,
  many other families are obtaining coverage for most of the costs. Insurance coverage is
  better for more “hard” neurological conditions such as epilepsy or myopathy, than it is
  for “softer” conditions such as high-functioning autism or pain, assuming that the
  ordering physician “codes” appropriately. In the event of the complete absence of
  insurance coverage, prices have come down so far that they are affordable for many
  families. For example, one can now obtain whole genome sequencing (WGS), mitochondrial
  DNA (mtDNA), chromosomal microarray (CMA), Fragile X, and Dr. Boles’
  reading on all of this for about $4,000 or less.
• Emotional effects: Despite the best efforts, sometimes genetic results indicate findings
  that suggest that the underlying condition is untreatable, likely to be progressive, or that
  disease has a high probability of developing in existing or future family members. This
  can obviously be upsetting, and testing can be a source of anxiety.
• Incidental findings: Sometimes genetic results indicate findings that are likely unrelated
  to the reason that testing was performed. It is fairly common to find out that certain
  medications have increased risks, or that there is a risk of conditions such as cardiac
  arrhythmias or seizures. These “incidental findings” that are revealed are generally
  treatable, as the focus of interpretation is on treatable conditions, not on conditions for
  which treatment is not an option. Oftentimes, “incidental” knowledge can be helpful in
  terms of avoidance or lower dosing (certain medications) or testing and early intervention
  (cardiac arrhythmias or seizures). In practice, the chance of identifying a serious and
  untreatable condition is quite uncommon, but possible.
• State licensure and telemedicine laws: Genetic interpretation provided to the family is the
  practice of medicine. It is illegal for Dr. Boles to provide this service to families present
  during the evaluation in a state that he does not have a medical license.
• At present, Dr.Boles only has a medical license in California, Arizona Florida, New Jersey,
  and Pennsylvania. Thus, Dr. Boles cannot speak to you unless you live or have traveled to a state
  whereas he has a medical license. In addition, some states (e.g. New Jersey) have telemedicine
  laws that require special equipment and environments thatrequire travel to such a location,
  precluding telemedicine into your home in those states. However, the Peer-to-Peer service is available
  in all states. In that service, Dr. Boles discusses the case, genetic testing, and treatment options with
  your physician, over thetelephone. Unfortunately, outside of states whereas Dr. Boles is licensed, the
  family cannot be included in such a call. For more information see the section entitled Peer ToPeer.
• Obtaining the data from the laboratory: Dr. Boles does not have direct access to any
  laboratory reports due to HIPAA law. You or your physician will need to request access
  or send the reports to him. In addition, if you want the “Comprehensive Level” of
  sequence interpretation, you may need to assist in the transfer of digital data from the
  laboratory. The appropriate procedure for each laboratory will be provided if you are
  interested in this service. For more information about this service see the section entitled
  “Comprehensive Level” of sequence interpretation.
• Genetic counseling is recommended: The above information on genetic testing, and in
  particular the risks and benefits, varies from individual to individual, and from family to
  family. The above information is a brief summary, and should not be considered to be a
  substitute for genetic counseling. Please consult your physician, or a genetic specialist
  such as a genetic counselor. Dr. Boles can provide this counselling if he is your
  physician.

• The Direct Telemedicine model allows the patient to be seen and treated directly by Dr. Boles. The patient must be
  under the age of 30 and have the ability to complete a Zoom call on a laptop. For more information see the
  section entitled Telemedicine Consultations.
• Nationwide Telemedicine: Dr. Boles is providing telemedicine services to patients in multiple states. The
  Peer-to-Peer service is where Dr. Boles discusses the case, genetic testing, and treatment options with your
  physician, over a telehealth call (Zoom). For more information see the section entitled Telemedicine Peer-To-
  Peer.
• RMC in Aliso Viejo, California or Melbourne, Florida: If your child is on, or near, the autistic spectrum, another
  option is for your child to become Dr. Dan Rossignol’s patient, who is an excellent integrative physician specializing in
  autism. Dr. Boles provides comprehensive evaluations with the Rossignol Medical Center (RMC) to discuss genetic
  testing options and what the results mean. If you live in Florida or California and have telemedicine capability
  (Zoom on a laptop in a quiet room is sufficient), you can “meet” Dr. Boles for a consultation in the privacy of
  your own home with Dr. Rossignol also present (Peer-to-Peer model). For more information see Dr. Rossignol’s
  website at https://www.rossignolmedicalcenter.com.