CASE STUDY by Joe R. Veltmann PhD FAAIM DCCN and Roberta Kline MD FACOG, founders of Genoma International. Jessica felt helpless, hopeless and alone. She had just turned 18, realizing her dream of living in the big city, yet something was getting in the way. She struggled with worsening anxiety and depression, felt exhausted. She had lost all interest in food, friends, activities, and her passion – creating art. She couldn’t focus in school and her teachers were concerned. She felt her dream of being a commercial artist slipping away, and knew she needed help. On the recommendation of her therapist, Jessica sought help from a psychiatrist, who felt she would benefit from medication. Over the course of the next three months, this is what she experienced:
- The first medication created side effects with minimal improvement in her anxiety.
- A second medication was added. Jessica noted her sleeping was better with the additional medication, but was having vivid nightmares and had gained significant weight.
- A third medication was then added to counteract the weight gain. Less than three weeks later, she found herself in the hospital suffering from unexplained symptoms. Her inpatient team of professionals determined that her symptoms were likely due to an additional psychiatric condition that had not been diagnosed previously.
Genomic Medicine PrimerGenomic testing is a cornerstone of genomic medicine. Genomic testing evaluates the DNA code that instructs how the body optimizes nutrients, balances emotional and physical health, processes toxins, and fights infections. Glitches in the code called SNPs, or single nucleotide polymorphisms, can create one or more faulty switches across many different biological systems, causing the system to falter or crash. Studies have documented that multiple gene SNPs within a given biological system can increase a person’s risk for many chronic illnesses such as obesity, cancer, heart disease, as well as depression and anxiety. Unlike inherited diseases which result from rare but significant mutations in the genetic code, SNPs occur with great frequency in human DNA. There are more than 10 million SNPs in the human genome, yet the biological effect of each is small. Over time, however, these gene SNPs can predispose an individual to a variety of chronic diseases, unless supported by DNA-directed personalized nutrition, lifestyle and medication choices. Prior to the discoveries associated with the Human Genome Project that was completed in 2003, clinicians could only guess how to mitigate a person’s gene SNPs with nutrition, exercise, and lifestyle recommendations. Today, comprehensive genomic testing allows forward thinking clinicians to develop DNA-guided, personalized disease and prevention strategies improving health outcomes, while saving time and resources for the patient and clinician. When comprehensive genomic testing is combined with functional/integrative medicine and nutrition, all within a whole-person model of health, we call it Genomic Medicine. In our clinic we use a genomic medicine model called the GENESIS MatrixTM Personalized Health Model, developed by Dr. Joe Veltmann more than 25 years ago. The GENESIS Matrix was adapted to include genomic testing in 2001, and continues to be updated as clinical science progresses. The Genesis Matrix is built on the hypothesis that good health (or the lack of it) is a function of the inter-relationships between and among genes, the environment, nutrition, emotions, stress, inflammation and spirituality (belief systems). A significant number of scientific studies in the literature support this concept.
How Genomic Medicine Helped JessicaGenomic testing is part of our overall comprehensive assessment for all new patients, and Jessica was no exception. Suspecting toxicity from her medications was contributing to her recent symptoms, the first priority was to evaluate how she was processing her medications with Genoma International’s pharmacogenomic test panel. We examined the genes involved in processing many types of medications, including the three medications she was currently taking. The testing revealed that Jessica had many SNPs associated with her ability to process each medication. Moreover, the multi-drug combination was proving particularly toxic to her. With this information, the solution was clear. She decided to stop taking her medications, and after a few weeks started to feel significantly better. Jessica was cautioned against taking any of the numerous medications identified as problematic in her pharmacogenomic testing report, unless her prescribing physician was aware of her unique genotype and could personalize the medication or dosage accordingly. The next step was to look at her nutritional genomic testing results to gain insight into how her genes were contributing to her symptoms, and what nutrition and lifestyle interventions would be effective for her. The findings would also help her new therapist personalize her strategies to understand and manage her symptoms more effectively. With Genoma International’s comprehensive Ultimate Wellness genomic test panel, we analyzed Jessica’s DNA across 8 biological systems to understand how her body was operating at the DNA level and identify the SNPs that were contributing to her symptoms. Below are just a few highlights from the comprehensive plan we created to address her emotional health:
- Increase Omega-3 fatty acids from animal sources. Jessica was unable to utilize the form found in plants.
- Increase folate and choline. The genes responsible for metabolizing these two nutrients were impaired, she needed more than the typical recommended intake.
- Increase Vitamin D. Jessica did not produce vitamin D from sunlight, and her cells also had trouble using the vitamin D she gets from food— here she needed a supplement.
- Add Ubiquinol. CoQ10, critical for energy, was useless for her because she couldn’t convert it into the active form ubiquinol. She needed the ubiquinol form, which is only available as a supplement. Lab tests for CoQ10 were also not a good biomarker for her.
- Organic foods were especially important. Jessica had a reduced ability to process the toxins in pesticides or heavy metals like mercury or arsenic that are more often found in conventionally grown produce. These heavy metals are toxic to her body and brain; she needed to avoid foods that may contained these toxins to ensure optimal support of the nutrients and bioactives needed to support her particular detoxification pathways. This finding also altered our suggestion to increase animal sources of EPA/DHA, which are often high in these contaminants. Therefore an EPA/DHA supplement, free of PCBs and heavy metals, was recommended.
- Stress management, magnesium, B vitamins, and Sam-e. Jessica’s genomic profile indicated an exaggerated and prolonged response to stressors. She produced excessive cortisol with heightened activation of the HPA axis. She also produced excessive adrenaline, and paired with impaired breakdown of the catecholamines resulted in inducing a prolonged “fight or flight” response, contributing to her anxiety. By understand her unique makeup, and specifically supporting the genes involved, she could reduce the stress response that triggers anxiety.
- Cognitive behavioral therapy. Jessica’s genomic profile indicated she had more challenge with neurocognitive flexibility, particularly within the context of stress. In addition to the stress management steps above, her therapist was able to choose the counseling and behavior change strategies that would be most effective for Jessica using this additional information.