Genetic Testing
Complete Guide to Understanding DNA and Health
Genetic testing is a powerful tool that examines your DNA to help identify your risk for various health conditions, explain symptoms, and guide treatment plans. It offers personalized insights across many areas of health—including cancer, metabolism, hormones, mental health, immunity, and more. Whether you're looking to understand your family history, prevent future illness, or tailor medications, your genetic blueprint can help pave the way for truly personalized healthcare.
What Is Genetic Testing?
Genetic testing looks at your genes, chromosomes, or proteins to detect mutations or variations. These changes can influence your risk for disease, how your body processes nutrients & medications, or explain why certain conditions run in your family.
Genetic testing can help:
- Diagnose hereditary conditions
- Predict future health risks
- Guide medication and treatment choices
- Understand traits, metabolism, or ancestry
- Optimize your long-term wellness strategy
Types of Genetic Tests
- Single-Gene Tests
Detect changes in a single gene.
Example: BRCA1/2 testing for breast and ovarian cancer risk. - Multi-Gene Panels
Analyze a group of genes associated with one health issue.
Example: Cardiovascular, cancer, or neurological panels. - Whole Exome/Genome Sequencing (WES/WGS)
Evaluates all protein-coding genes (exome) or the full genome to uncover rare or undiagnosed conditions. - Polygenic Risk Scores (PRS)
Estimate your lifetime risk for common conditions—like heart disease, diabetes, or Alzheimer’s—based on many low-risk variants combined. - Pharmacogenomics
Tailors medications based on how your body metabolizes drugs.
Example: CYP2D6 and CYP2C19 testing for antidepressants or pain meds. - Methylation and Epigenetic Panels
Assess how your environment and nutrition influence gene expression.
Example: MTHFR, COMT, CBS. - Proteomic and Organ Age Tests
Evaluate biological age and organ-specific stress by measuring blood protein markers.
Genetic Testing by Health System
- Cancer:
BRCA1/2, CHEK2, PALB2, and Lynch syndrome gene panels assess hereditary cancer risk. - Hormonal Health:
MTHFR and COMT variants affect estrogen detox, adrenal resilience, and neurotransmitter function. - Mental Health & Neurology:
Gene scores for mood, cognition, anxiety, and dementia—plus genes regulating dopamine, serotonin, and GABA activity. - Immunity & Autoimmunity:
Panels for primary immune deficiencies and autoimmune triggers (e.g., HLA, IL6, TNF-alpha). - Metabolism & Cardiovascular Health:
Variants affecting cholesterol, iron metabolism, weight regulation, and blood sugar (e.g., FTO, TCF7L2, HFE, APOE). - Pharmacogenomics:
Genes like CYP2D6 and SLCO1B1 help predict how your body will react to medications. - Reproductive & Fertility Health:
Screens for inherited disorders like Fragile X, cystic fibrosis, and thalassemia.
Why Genetic Testing Matters
- Preventive Power: Know your risks early to make proactive health decisions.
- Precision Medicine: Choose the safest and most effective treatments for your body.
- Whole-Body Insights: Understand how your genes influence hormones, nutrients, mood, and organ function.
- Family Health: Clarify inherited risks and share actionable knowledge with relatives.
Limitations and Considerations
- Not all genetic mutations are fully understood yet.
- Testing should be interpreted in the context of family history, lab markers, and lifestyle.
- Some tests may uncover unexpected results that affect other family members.
- Consider privacy policies, data security, and potential insurance implications before testing.
Emerging Trends in Genetic Testing
- Polygenic risk scoring for common diseases like diabetes and Alzheimer’s
- Whole-genome sequencing becoming faster and more affordable
- Epigenetic testing and biological age markers to track wellness over time
- AI-driven analysis that combines genetics, lab markers, and lifestyle factors for precision care
Fun Fact
Genetic carrier screening for conditions like sickle cell disease, cystic fibrosis, and thalassemia is now standard during many prenatal visits, helping prevent complications in future children.
In-Depth Overview: Types of Genetic Panels and Tests Available
Here’s a deeper look at what’s available in today’s genetic testing landscape:
Neurological & Brain Chemistry Genes
These genes influence dopamine, serotonin, GABA, and norepinephrine pathways. Imbalances may increase risk for depression, anxiety, ADHD, bipolar disorder, and sleep disorders.
Key genes include: COMT, MAOA/MAOB, SLC6A4, DRD2, DRD4, BDNF, GAD1, OXTR
Test providers: Genomind, IntellxxDNA, PureGenomics, SelfDecode
Estimated cost: $200–$1,200
Metabolism & Nutrient Processing Genes
Assess how your body processes B vitamins, detoxes, handles inflammation, or stores fat.
Genes tested: MTHFR, MTR, MTRR, CBS, SOD2, APOE, CYP450 enzymes, FTO, UCP1
Used by: DNA Life, MaxGen, Nutrahacker, Genova DNA Life
Estimated cost: $299–$1,200
Mood, Depression & Anxiety Genetics
Understand how your genes influence stress resilience, neurotransmitter balance, and mental health.
Genes of interest: SLC6A4, MAOA, COMT, BDNF, FKBP5, HTR2A
Panels: Genomind, IntellxxDNA, SelfDecode
Cost range: $300–$600
Cancer Risk Panels
Evaluate your risk of hereditary breast, ovarian, colon, or prostate cancers.
Genes included: BRCA1, BRCA2, CHEK2, PALB2, MLH1, MSH2, TP53
Test providers: Invitae, Color Genomics, Ambry, Myriad, GeneDx
Estimated cost: $250–$500 (often covered with strong family history)
Pharmacogenomics (Drug Response)
Tailor medication to your genetics—minimizing side effects, maximizing benefit.
Key genes: CYP2D6, CYP2C19, CYP3A4, SLCO1B1, VKORC1, HLA-B
Labs: GeneSight, OneOme, Mayo Clinic, Genomind
Cost: $250–$600 (insurance often covers)
Alzheimer’s & Cognitive Risk
Identify risk of memory loss, cognitive decline, or Alzheimer’s.
Genes tested: APOE ε4, CLU, BDNF, COMT, MAPT, PICALM
Providers: 23andMe, IntellxxDNA, SelfDecode
Estimated cost: $200–$1,000
Gut Health & Food Sensitivity Genes
Learn how your genes affect digestion, inflammation, histamine sensitivity, and microbiome diversity.
Genes of interest: DAO, FUT2, HLA-DQ2/DQ8, TNF-α, IL6, NOD2
Test companies: MaxGen, SelfDecode, Genova Diagnostics (GI + SNPs)
Cost range: $250–$1,000
Diabetes & Insulin Resistance Risk
Genetic risk for type 2 diabetes, insulin resistance, obesity, and metabolic syndrome.
Key genes: TCF7L2, FTO, IRS1, KCNJ11, ADIPOQ, PPARG
Panels: DNA Health, 23andMe + third-party analysis
Estimated cost: $200–$500
Personality, Happiness & Motivation Genes
Focus on dopamine sensitivity, emotional regulation, and social connection.
Genes examined: DRD2, DRD4, SERT, BDNF, COMT, OXTR
Labs: MyHappyGenes, MaxGen Mind & Mood, SelfDecode
Estimated cost: $250–$1,000
Autoimmune & Neurological Disorders (MS, ALS, etc.)
Assess genetic risk for complex diseases like multiple sclerosis, ALS, and rare movement or neuroimmune disorders.
Genes tested: HLA-DRB1 (MS), C9orf72 (ALS), SOD1, TARDBP, TREM2
Test providers: GeneDx, Neurogene, Invitae
Estimated cost: $400–$2,000 (often covered with clinical suspicion)
Genetic testing is an evolving field that empowers patients and providers with personalized, actionable information. Whether you’re optimizing your brain chemistry, managing your cancer risk, or trying to understand your body’s unique nutrient needs—your DNA can offer critical clues. But genetic testing is only a tool—how you use that information in context with your lifestyle, labs, symptoms, and history is what truly leads to better health.
