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.
