[vc_row][vc_column boxed=”boxed” elevate=”elevate”][vc_column_text]<\/p>\n
<\/p>\n
Many families have been contacting Dr. Boles asking him to interpret genetic testing reports,
\nfrom several different laboratories. In some cases, the reports are relatively old and the family
\nstill has questions following a discussion of the results with their physician(s). In other cases, the
\ntesting was performed more recently. Additional families have not yet had testing and are
\ninquiring regarding what testing could provide them, which tests to order, and where to order
\nfrom.<\/p>\n
[\/vc_column_text][\/vc_column][\/vc_row][vc_row full_width=”0″ full_height=”0″ elevate=”elevate” particles=”0″][vc_column][vc_tta_accordion color=”sky” spacing=”3″ gap=”4″ active_section=”100″ collapsible_all=”true”][vc_tta_section title=”Potential Benefits” tab_id=”1530657716878-a3882c0c-1772″][vc_column_text]The main benefit of genetic testing is the potential to determine what causes the disease and\/or
\nwhich factors contributes to the disease. The goal is to arrive at a better understanding of disease,
\nand in particular to use that knowledge to guide better treatment and other disease management.
\nThe likelihood of finding something that makes a real clinical difference varies from situation to
\nsituation, and is dependent on:
\n1. The type and severity of disease
\n2. The age of the patient (younger = higher likelihood)
\n3. The technical and interpretative skills of the testing laboratory
\n4. The abilities of the physician reading the report and translating the findings into medical
\npractice.<\/p>\n
Not surprisingly, given the complexity and amount of genetic information, the last item above is
\noftentimes the obstacle.<\/p>\n
<\/p>\n
What are the potential advantages of having Dr. Boles interpret your genetic reports?<\/strong><\/p>\n [\/vc_column_text][\/vc_tta_section][vc_tta_section title=”Potential Risks and Obstacles” tab_id=”1530657716901-1d51cbb8-ab33″][vc_column_text]<\/p>\n [\/vc_column_text][\/vc_tta_section][vc_tta_section title=”Your Current Options:” tab_id=”1530657861571-ef415cea-a2ba”][vc_column_text]<\/p>\n [\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":" [vc_row][vc_column boxed=”boxed” elevate=”elevate”][vc_column_text] 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 […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-427","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/427","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=427"}],"version-history":[{"count":15,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/427\/revisions"}],"predecessor-version":[{"id":639,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/427\/revisions\/639"}],"wp:attachment":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=427"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}\n
\nfraction of the information that a treating physician has regarding the person, disease, and
\nfamily history. A better understanding of the patient with the disease, and the family
\nhistory, can often identify candidate variants that fit the patient well, but were not
\nrecognized as such by the laboratory due to incomplete clinical information. In a Peer-to-
\nPeer telephone conversation with your physician, limited medical records are sent to Dr.
\nBoles for his review, your\/your child\u2019s case will be discussed, and then the genetics
\nreport(s) will be discussed to determine how the results might apply to you or your child.
\nIn a full consultation, Dr. Boles will obtain this information directly from you, as well as
\nthe medical records provided.<\/li>\n
\nare intrinsic parts of a standard genetics education, or of standard laboratory reporting.
\nHowever, Dr. Boles will interpret the report per these concepts, as well as per standard
\nmethodologies.<\/li>\n
\nreports is to identify potential treatment options for you and your physician to consider.
\nAdditionally, Dr. Boles will interpret reports not only in terms of what treatments are
\navailable for any disease that the DNA sequence proves is present, but also based on
\nsequence variants that may or may not be disease related in which a benign therapy might
\nexist. This is NOT performed as part of standard laboratory reporting.<\/li>\n
\nfrequent that a \u201cbenign\u201d, \u201clikely negative\u201d, or \u201cequivocal\u201d report will turn out to have
\npotential treatment options.<\/li>\n
\nDr. Boles\u2019 interpretations will be sent to your physician, which can be forwarded to you
\nand your other physicians. In a full consultation, an extensive note will be provided to
\nyou.<\/li>\n
\nsee the sections under the menu heading \u201cCONCEPTS\u201d on his website at
\nwww.molecularmitomd.com.<\/li>\n<\/ul>\n\n
\nWhile it is true that many families find that their insurance company has denied coverage,
\nmany other families are obtaining coverage for most of the costs. Insurance coverage is
\nbetter for more \u201chard\u201d neurological conditions such as epilepsy or myopathy, than it is
\nfor \u201csofter\u201d conditions such as high-functioning autism or pain, assuming that the
\nordering physician \u201ccodes\u201d appropriately. In the event of the complete absence of
\ninsurance coverage, prices have come down so far that they are affordable for many
\nfamilies. For example, one can now obtain whole genome sequencing (WGS), mitochondrial
\nDNA (mtDNA), chromosomal microarray (CMA), Fragile X, and Dr. Boles\u2019
\nreading on all of this for about $4,000 or less.<\/li>\n
\nthat suggest that the underlying condition is untreatable, likely to be progressive, or that
\ndisease has a high probability of developing in existing or future family members. This
\ncan obviously be upsetting, and testing can be a source of anxiety.<\/li>\n
\nto the reason that testing was performed. It is fairly common to find out that certain
\nmedications have increased risks, or that there is a risk of conditions such as cardiac
\narrhythmias or seizures. These \u201cincidental findings\u201d that are revealed are generally
\ntreatable, as the focus of interpretation is on treatable conditions, not on conditions for
\nwhich treatment is not an option. Oftentimes, \u201cincidental\u201d knowledge can be helpful in
\nterms of avoidance or lower dosing (certain medications) or testing and early intervention
\n(cardiac arrhythmias or seizures). In practice, the chance of identifying a serious and
\nuntreatable condition is quite uncommon, but possible.<\/li>\n
\npractice of medicine. It is illegal for Dr. Boles to provide this service to families present
\nduring the evaluation in a state that he does not have a medical license.<\/li>\n
\nand Pennsylvania. Thus, Dr. Boles cannot speak to you unless you live or have traveled to a state
\nwhereas he has a medical license. In addition, some states (e.g. New Jersey) have telemedicine
\nlaws that require special equipment and environments thatrequire travel to such a location,
\nprecluding telemedicine into your home in those states. However, the Peer-to-Peer service is available
\nin all states. In that service, Dr. Boles discusses the case, genetic testing, and treatment options with
\nyour physician, over thetelephone. Unfortunately, outside of states whereas Dr. Boles is licensed, the
\nfamily cannot be included in such a call. For more information see the section entitled Peer ToPeer.<\/li>\n
\nlaboratory reports due to HIPAA law. You or your physician will need to request access
\nor send the reports to him. In addition, if you want the \u201cComprehensive Level\u201d of
\nsequence interpretation, you may need to assist in the transfer of digital data from the
\nlaboratory. The appropriate procedure for each laboratory will be provided if you are
\ninterested in this service. For more information about this service see the section entitled
\n\u201cComprehensive Level\u201d of sequence interpretation.<\/li>\n
\nparticular the risks and benefits, varies from individual to individual, and from family to
\nfamily. The above information is a brief summary, and should not be considered to be a
\nsubstitute for genetic counseling. Please consult your physician, or a genetic specialist
\nsuch as a genetic counselor. Dr. Boles can provide this counselling if he is your
\nphysician.<\/li>\n<\/ul>\n\n
\nunder the age of 30 and have the ability to complete a Zoom call on a laptop. For more information see the
\nsection entitled Telemedicine Consultations.<\/li>\n
\nPeer-to-Peer service is where Dr. Boles discusses the case, genetic testing, and treatment options with your
\nphysician, over a telehealth call (Zoom). For more information see the section entitled Telemedicine Peer-To-
\nPeer.<\/li>\n
\noption is for your child to become Dr. Dan Rossignol\u2019s patient, who is an excellent integrative physician specializing in
\nautism. Dr. Boles provides comprehensive evaluations with the Rossignol Medical Center (RMC) to discuss genetic
\ntesting options and what the results mean. If you live in Florida or California and have telemedicine capability
\n(Zoom on a laptop in a quiet room is sufficient), you can \u201cmeet\u201d Dr. Boles for a consultation in the privacy of
\nyour own home with Dr. Rossignol also present (Peer-to-Peer model). For more information see Dr. Rossignol\u2019s
\nwebsite at https:\/\/www.rossignolmedicalcenter.com.<\/li>\n<\/ul>\n