Since the completion of the Human Genome Project in 2003, researchers have been working to develop ways that could feasibly allow individual testing for genetic defects known as SNPs (single nucleotide polymorphisms). More importantly, they’ve been seeking to understand how that genetic data translates into disease risk and into clinically effective therapies for both disease prevention and treatment.
The logic goes like this: We have 2 sets of each genes from each of our parents, which as a whole we call our DNA. The codes within the genes are the details required to properly create each of the body’s proteins, which do most of the important work and which determines health and disease. When a genetic defect (SNP) is present, the protein that is coded for along that gene will not be made properly and will thereby not function as it should. For example, the enzyme MTFHR (a protein) has been shown to work at between 40-70% of its normal speed when a particular SNP is present. Everyone has SNPs. Knowing where they lie within the DNA can serve as a guide to optimizing bodily functions as a whole.
We can’t change our genes, but we do control the lifestyle factors that influence how our genes express themselves (”epigenetics”). We can also target those defective proteins/enzymes by supplying the specific nutrients (“co-factors”) that they depend on. Therefore, when we know which genes are defective, we know which proteins are under-functioning and since we know how that protein functions within the body, we can boost up what we know has been lagging behind. This is individualized medicine at its finest.
Who should consider having their genes tested for abnormalities?
Anyone interested in optimal wellbeing and disease prevention would benefit from knowing his or her genetic SNPs. Especially worthwhile for optimized athletic performance and energy production, detoxification and recovery. Also for liver support and knowing capacity for tolerating certain medications and alcohol. Neurotransmitter creation and breakdown is assessed as well as risks for common diseases such as Alzheimer’s, heart disease, cancers and celiac.
The following conditions have been strongly linked to genetics SNPs and anyone with them, or a family history of them, would benefit from testing:
- Mood disorders: depression, anxiety, irritability, mood swings, bipolar
- IBS, multiple chemical sensitivity, fibromyalgia, chronic fatigue syndrome
- Down’s syndrome
- Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s
- Infertility and Pre-conception care
- Cancer: family history or undergoing cancer treatment including cervical dysplasia
- Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, hypertension
- Birth defects: cleft palate, spinal bifida, midline defects etc.
- Unusual symptoms that have not been diagnosed using conventional testing
- Children and siblings of individuals with documented genetic SNPs
How do I get tested?
Testing your genetics is easy. It requires only a saliva sample and $199. Test kits are available through www.23andme.com/drmeli. They send you the kit, you provide the saliva sample and sent it back. They will then email you all of your genetic information. Interpreting the data is the tricky part and for assistance in interpretation and to create a customized treatment plan, make an initial appointment with myself, Dr. Sal Meli. Expect 2 weeks to receive the kit and 4-6 weeks for results.
Dr. Sal Meli