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, and South Carolina
(and soon in 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 that
require 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 the
telephone. 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 To
Peer.
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.
