Personalized health care within reach? Say hello to the brave new world of whole genome sequencing!

By Joy Stephenson-Laws, JD, Founder

I will be honest and admit, I never quite understood what whole genome sequencing was until I tried it. I provided a sample of my saliva and waited about two months for the results.  

At the end of the two-month period, I received hundreds of user-friendly reports that provided me with genetic information in a myriad of areas, including the following:

• Ancestry

• Breast cancer risk

• Skin care

• Insulin sensitivity

• Risk for alcohol dependence

• Whether a reduced sodium diet or diuretics would benefit me if I were diagnosed with hypertension

• High blood pressure risk

• Heart attack risk

• Rheumatoid arthritis risk

• Multiple sclerosis risk

• Obesity risk/predisposition  

• Cholesterol risk assessment

• Type 1 & 2 diabetes risk

• Pain sensitivity

• Folate diet

• Lactose tolerance

• Snacking

• Food desire/potential for food addiction

• Age-related macular disease

• Heroin addiction risk analysis

• Depression

• Antidepressant side effects

• Sweet tooth

• Comprehensive personality analysis

• Atrial fibrillation risk analysis

• Osteoporosis risk

• Phytoestrogen effectiveness to prevent breast or prostate cancer

• Life expectancy

• Keloid formation

• Viagra effect on erectile response

• Weight loss response to exercise

• Endurance training

• Saturated fat to obesity, tendency to consume saturated fat

• Weight gain on high-fat diet

• Eating disinhibition/bulimia

• Weight loss and regain

• Strength training

• Body fat response to exercise

• Exercise-induced ischemia (reduced blood flow and oxygen) and much more, including what prescription drugs would be effective if I had certain medical conditions

Clearly, I received a ton of information about myself, but it is the New Year, and as usual, one of my resolutions is to lose a few pounds and exercise more. Well, I found my genes relative to exercise and weight loss very informative. Apparently, I am predisposed to being fat, and if I lose weight, I have a tendency to regain it. Thank God, my body fat responds well to exercise, because there are some people who are unable to significantly reduce their body fat with exercise, and I am not predisposed to gaining weight on a high-fat diet.  

Even though I detest strength training, it is apparently good for me. I was secretly hoping I would be among the group of people that strength training did not affect -- no luck there -- because it does not work for everyone. I am tolerant to endurance training, and I am unlikely to have exercise-induced ischemia.  

As I mentioned in the list above, my genes may also help predict if and how I will respond to certain medications like antidepressants. According to the report, I “may have a higher risk of sexual dysfunction when taking anti-depressants.” My genes may also help predict how I would respond to certain types of chemotherapy or radiation, a recent study suggests.

Researchers found that certain genes (called CEN/KT genes) were associated with chromosomal instability. This chromosomal instability is a hallmark for cancer, but the relationship here is quite complex. But essentially, this instability may allow the cancer to spread, and it may make you more vulnerable to the DNA-damaging effects of chemo/radiation.

So if I were diagnosed with cancer, my doctor could know ahead of time that I have these genes.  As a result, I could avoid going through a toxic treatment that would end up being of no benefit to me.

So yes, there are many benefits to knowing your genes!

Overall, knowing your genes may help you get more personalized health care and treatment, and  make more informed choices about your health and fitness.

Patients should be informed of choices regarding treatment options and recommendations from  health care providers about which options are compatible with their genome.

And for those of you who love this kind of stuff, how about a trip down memory lane? Remember Gattaca?  

This movie came out in 1997. The story is basically this: A genetically inferior man assumes the identity of a superior one in order to pursue his lifelong dream of space travel.

However, I don’t think the question is so much one of inferior genes anymore; it’s more what  you can do with knowledge of your genetic code to improve your health and make better decisions. And hey, if space travel is your thing, you’re better off travelling to space in the best shape of your life. From my experience, knowing my genes has made a world of positive difference in my ability to be proactive about my health.

Enjoy Your Healthy Life!