Although scientific advances in genetics has revolutionized some university-based practices, many health care providers and patients are confused by what genetic tests may be useful, and how the results can be used to alter treatment or clinical management. There remain significant gaps in translating complex DNA sequencing data into clinically useful information for physicians, health care providers, and patients/families. CNNH has created an innovative and unique approach for “unlocking” the vast potential in genetic testing for changing clinical management for individuals with neurological, neuropsychiatric, neurodevelopmental and neurobehavioral disorders, as well as for people suffering from unexplained pain, nausea, or fatigue, and fulfilling the promise of “Personalized” and “Precision” medicine.
Genetic laboratories issue standard reports that are constrained by narrow interpretations, or are non-specific and non-committal, resulting in much confusion for providers and patients. CNNH can provide peer-to-peer consultations with you for: analyzing or re-analyzing the raw DNA sequencing data files from virtually any genetic laboratory.
• Conferring with you about the clinical history, symptoms and signs of your patients, and determining if there are genetic findings that likely apply to your patient and are “actionable”.
• Advising you on the appropriate “next steps” for genetic testing.
• Assisting you with the ongoing management of complex genetic findings.
Genetic testing can:
• Identify or confirm a diagnosis, or uncover a biological cause, and thus, will end the
“diagnostic journey” and avoid additional unnecessary testing.
• Provide information about specific medications, supplements, dietary changes, or
other interventions that could be useful: “Precision” Medicine.
• Uncover genetic risk factors for the development of other diseases or disorders,
allowing for early intervention to avoid catastrophic outcomes.
• Help families understand their genetic risks for their children and other family
• Suggest other diagnostic tests that might help in diagnosis or treatment.
CNNH’s approach is to assist you in helping your patients. This is a “peer-to-peer” program to confer and consult directly with the health care provider, in order to arm you with the information to better manage your patients and achieve successful outcomes.
1. The Program’s Director, Richard G. Boles, M.D., is an internationally recognized medical geneticist and expert in mitochondrial medicine. The Program will schedule a remote teleconference with Dr. Boles. During this session, Dr. Boles will review in more detail the clinical history and findings of your patient, and then review with you any significant genetic findings.
2. Dr. Boles will also advise you on how any genetic findings suggest potentially effective treatments, other important diagnostic tests to consider, how test results might alter differential diagnoses, and other important translational information. As a physician, Dr. Boles can “go beyond” the standard laboratory reports and constraints, and provide insights to you that may alter your clinical management practices and produce positive patient outcomes.
3. In the Comprehensive Service, in addition to the above, the Program will take the raw DNA sequencing data files and utilize a proprietary bioinformatics program to identify potentially significant genetic variants. In our experience, many applicable and potentially treatable genetic variants are not identified by
the laboratory as being of potential importance and/or are not present on the official report. We will analyze these variants and classify them based on various pathological characteristics and clinical relevance. Dr. Boles will discuss the relevant variants during the teleconference using the criteria outlined in #3 above.
4. Follow up teleconferences will also be available.
Almost any patient with unexplained or poorly treated neurological, neuropsychiatric or related symptoms and signs can benefit from a genetic assessment: even in those with established diagnoses. Also, since genetics is a rapidly changing field, it is important to “look back” and re-analyze genetic testing results for those who have been previously tested, or even those with recent testing who want more “in depth” results. What follows is a partial list of patients for which genetic testing will have a high yield:
• Autism Spectrum Disorders
• Intellectual Disabilities
• Neuropsychiatric Disorders (in particular certain cases of anxiety, depression,
psychosis and/or ADHD)
• Combinations of vague and/or nonspecific “functional” symptoms involving
the gastrointestinal tract (e.g. irritable bowel, cyclic vomiting), chronic fatigue,
migraine, other chronic pain syndromes, etc.
• Established or suspected “mitochondrial disease”
If you prefer for CNNH to provide a telemedicine consult directly with your patient, please let us know. We are beginning to create this service in selected states, which is designed to “go beyond” the usual analyses as described above. Please contact us for further questions or information.