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

Many families have been contacting Dr. Boles asking him to interpret genetic testing reports,
from several different laboratories. 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 more recently. Additional families have not yet had testing and are
inquiring regarding what testing could provide them, which tests to order, and where to order


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

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
  • 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
  • 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
  • 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, whole exome sequencing (WES) is priced as low as $1,000. 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.
  • 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, Florida, New Jersey, South Carolina, 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 familycannot 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
  • Pasadena, California:You and your child (or just you, if a young adult) can travel to
    Pasadena, California to become Dr. Boles’ patient, either ongoing or for one or a few
    evaluations. The sections under the menu heading “CONCEPTS” and “LOGISTICS” on
    his website detail that option. For more information, download the New Family Patient
    and Clinician Expectations and Consent Form.
  • 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 at the Rossignol Medical Center (RMC) to discuss genetic
    testing options and what the results mean. You can meet Dr. Boles in person at the RMC
    location in Aliso Viejo, California (in southern Orange County). In addition, you can
    “meet” Dr. Boles via telemedicine at the RMC location in Melbourne, Florida. If you live
    in Florida or Northern California and have telemedicine capability (Skype on a laptop in
    a quiet room is sufficient), you can “meet” Dr. Boles for a consultation in the privacy of
    your own home. For more information see the section discussing the RMC option, or see
    Dr. Rossignol’s website at
  • CNNH nationwide telemedicine: Dr. Boles is the Director of the CNNH NeuroGenomics Center, providing telemedicine services to patients. CNNH is an innovative patient- and family-centered “Specialty Care Medical Home®” in Southern New Jersey providing a comprehensive array of assessment, treatment and support services( 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 Peer-to-Peer service in which Dr. Boles discusses the case, genetic testing, and treatment options with your physician, over the telephone, is operated through CNNH, and is available nationwide. For more information see the section entitled Peer To Peer. Dr. Boles can also provide telemedicine consultations for patients physically located at the main CNNH office in Voorhees, NJ, regardless of which state the patient lives in. If interested or for more information, contact Doreen Greer at phone: (856)346-0005 x1015; fax: (855)266- 6180; Also, see:CNNH NeuroGenomics Center. Peer-to-Peer forms can be downloaded from this website at Peer To Peer.
  • South Carolina: Through the CNNH NeuroGenomics Center (see above), Dr. Boles can
    provide genetic consultations via telemedicine through the office of Dr. Jean-Ronel
    Corbier at the Brain Restoration Clinic in Indian Hill, SC. Dr. Corbier is an integrative
    neurologist specializing in patients with autism and other neurodevelopmental disorders
    ( If you live in South Carolina and have
    telemedicine capability (Skype on a laptop in a quiet room is sufficient), you can “meet”
    Dr. Boles for a consultation in the privacy of your own home. If interested or for more
    information, contact Doreen Greer at phone: (856)346-0005 x1015; fax: (855)266-
  • The Comprehensive Service Option:
    This is the highest level of DNA sequence evaluation and is available for patients in any of the
    above settings. For more information, see the section entitled The Comprehensive Service Option.