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4/9/2024 / Issue #056 / Text: Nima Koucheki

Genetic Testing: My personal journey to understanding my DNA

What if a simple test at home could reveal which processes in our bodies are malfunctioning? What if we could understand exactly how our body functions, and what it can and cannot do? It may sound like science fiction, but through genetic testing we can learn how our unique genetic profile affects our body’s reaction to nutrients, toxins, stress, workouts, and more.

My name is Nima, and I’m the founder of Get Body Data. I’m Harvard-educated in genetics, immunology, and biochemistry, but my passion for health optimization stems from my own personal experience with Crohn’s disease. When I was 30 years old, I was diagnosed with this debilitating condition. For two years, I suffered from excruciating pain and watched my weight drop to a mere 56.7 kilos despite my 182-centimeter frame. I felt as though I was on the brink of death, desperately searching for a quick fix, a magic pill, or a miraculous treatment that could restore my health.

However, I soon realized that the path to recovery was complex. It required a comprehensive approach, addressing all aspects of my health. I began to focus on improving my diet, sleep, mental well-being, and physical fitness. I also started supplementing strategically to address any deficiencies. One of the most valuable tools in my journey was the wealth of data I obtained through various tests, including blood work, intolerance tests, and genetic analyses.

Since one show is worth more than a hundred tells, let me show you how genetic testing changed my life.

Understanding Genetic Testing
Genetic testing involves examining your DNA to detect changes or mutations that could be linked to specific health conditions; it’s like reading the instruction manual for your body. This test can reveal how your body processes nutrients, manages toxins, and responds to various environmental factors.

I discovered some fascinating insights about my body when I did my genetic test. For instance, my genes responsible for processing gluten and lactose weren’t functioning optimally. This explained why I had always felt uncomfortable after eating certain foods, even before my Crohn’s diagnosis.

Perhaps the most significant discovery was that I had a variation in my G6PD gene. This gene produces an enzyme that helps red blood cells function properly and protects them from harmful substances. My variation affects how my body handles oxidative stress and has serious dietary implications.

These discoveries were eye-opening. They allowed me to make targeted changes to my diet and lifestyle that significantly improved my health. For example, I cut out gluten and dairy from my diet, which helped alleviate some of my digestive issues. However, the G6PD variation required even more careful consideration. This condition, known as G6PD deficiency, is an inherited disorder that affects red blood cells. People with this condition need to be very careful about what they eat and what medications they take.

The most crucial dietary information I got was to eliminate fava beans (also known as broad beans) from my diet. For people with G6PD deficiency, eating these beans can trigger a severe reaction, potentially leading to hemolytic anemia – a condition where red blood cells break down faster than they can be replaced.

The Process of Genetic Testing
Getting a genetic test done is surprisingly simple. Here’s how it typically works:
1. Order a test kit online.
2. Receive the kit at home with instructions for collecting a saliva sample.
3. Send the sample back to the laboratory.
4. Wait for 2-4 weeks while your DNA is analyzed.
5. Receive a comprehensive report explaining your genetic variations.
I think everyone should do a genetic test. You only need to do it once, and you will have important information about your body forever. BUT, I do think just buying the test and getting the report isn’t enough. You need someone who thoroughly reviews the report with you. That’s why I studied Genetics and started my own company, Get Body Data.

What Genetic Testing Can Tell You
Genetic testing can provide insights into various aspects of your health:
1. Disease Predispositions: It can reveal if you’re at higher risk for certain conditions like heart disease, certain cancers, or autoimmune disorders.
2. Nutrient Processing: Your genes influence how your body processes different nutrients. For example, I learned that my body struggles to convert folic acid into its active form, methylfolate, due to a variation in my MTHFR gene.
3. Detoxification Ability: Some genetic variations affect how efficiently your body removes toxins. This information can guide decisions about diet, supplement use, and even which medications might work best for you.
4. Response to Exercise: Certain genes influence how your body responds to different types of exercise, which can help in tailoring your fitness routine.
5. Sleep Patterns: Genetic variations can affect your circadian rhythm and sleep quality, providing insights into how to optimize your sleep habits.

My Personal Insights
In my case, the genetic test revealed several key insights:
1. Gluten and Lactose Intolerance: As mentioned earlier, I discovered genetic variations that explained my difficulty in processing gluten and lactose. Removing these from my diet made a significant difference in my digestive health.
2. G6PD Variation: This variation affects how my body handles oxidative stress and requires careful dietary management. Avoiding fava beans and being cautious with other legumes, certain medications, and even some common foods became crucial for my health.
3. MTHFR Mutation: I found out I had a mutation in the MTHFR gene, which affects folate metabolism. This led me to switch to methylated B vitamins to support my body’s needs better. New studies have shown that around 40% of the population carries this variation.
4. Detoxification Pathways: I learned that some of my detoxification pathways were less efficient, prompting me to focus more on supporting my liver health and being mindful of my exposure to environmental toxins.

These insights were crucial in managing my Crohn’s disease and optimizing my overall health. They allowed me to make targeted changes to my lifestyle that profoundly impacted my well-being.

Benefits and Limitations of Genetic Testing
While genetic testing can provide valuable insights, it’s important to understand its limitations:
Benefits:
- Personalized health insights
- Early detection of potential health risks
- Guidance for tailored lifestyle changes
- Improved understanding of your body’s unique needs
Limitations:
- Not all genetic variations have known health implications
- Genetic predisposition doesn’t guarantee you’ll develop a condition
- Environmental and lifestyle factors play a significant role in health outcomes
- Some results may be anxiety-inducing without proper context

The Future of Genetic Testing
As technology advances, genetic testing is becoming more accessible and comprehensive. We’re moving towards an era of truly personalized medicine, where treatments can be tailored to an individual’s genetic makeup.
In my work with Get Body Data, I’ve seen firsthand how genetic insights can transform lives. We’re not just looking at disease risk; we’re uncovering the unique instruction manual for each person’s body. This allows us to create highly personalized health optimization plans considering an individual’s genetic predispositions, lifestyle, and goals.

Conclusion: My Personal Take
Genetic testing has been a game-changer in my health journey. It gave me a roadmap to understand my body’s unique needs and challenges. By addressing my specific genetic variations, I was able to manage my Crohn’s disease more effectively and improve my overall health in ways I never thought possible.

The discovery of my G6PD deficiency was particularly impactful. It explained some health issues I’d experienced in the past and allowed me to take proactive steps to prevent potential health crises in the future. This is a perfect example of how genetic testing can provide practical, actionable information beyond disease risk predictions.

However, I always remind people that genetic testing is just one piece of the puzzle. It’s a powerful tool, but it must be combined with other health data, lifestyle considerations, and professional guidance to optimize your health.

If you’re considering genetic testing, I encourage you to approach it with an open mind and a willingness to make changes based on your learning. Work with healthcare professionals who understand how to interpret genetic data in the context of your overall health.

Remember, your genes are not your destiny. They’re a blueprint that you can work with to build your best health. By understanding your genetic predispositions, you can make informed decisions about your diet, lifestyle, and healthcare that are truly personalized to you.

Genetic testing has been an invaluable ally in my journey from struggling with Crohn’s disease to founding Get Body Data. I hope that by sharing my story and insights, I can help others harness the power of genetic testing to transform their own health and lives.