Genetic testing: Why I did it and how it has changed my life

I recently signed up for 23andme.com, which is a service that analyzes your DNA for the presence of over 200 diseases and traits.  The purpose is to find out diseases you may be at risk for, which genes you carry that could be passed onto your offspring, and genes you may have that affect your response to various drugs.

After putting down my $299 and shipping off my saliva sample, several people asked, “Why on earth would you want to do that?”

Why I Did It

I have many reasons but the most important being that I insist on being the CEO of my health.   To be effective at that job, I need information.

I took an interest in health at an early age.  For a few years during grade school I struggled with my weight. I was the chubby one in a family of skinny people who could seemingly eat anything they wanted.  When I ate anything I wanted I ate more than other people and I gained weight–enough to be teased about it and to feel very self-conscious about my body.  I ended up losing the weight by watching what I ate (I was already very active, on sports teams, swimming, and riding my bike everywhere).  I spent my teen years constantly trying to be careful about not overeating, because I knew my body wasn’t like my thin friends and family.

When I was 20, my uncle died of a heart attack at age 42.  I had a lot of anxiety afterwards about what his death meant in terms of my longevity.  Even at age 20, 42 didn’t seem far away.  And now, I’m almost 40, inching ever forward to the age when he passed.  Both of my maternal grandparents had also died of cardiovascular disease at fairly young ages.  More recently, my father has been battling severe atrial fibrillation. These events concerned me about the genetic hand I have been dealt.  I started running, reduced fats in my diet, and pursued a career in health psychology, a field focused on the study of the impact of behavior on health.  The question that drives my research to this day is:  “what motivates us to make unhealthy decisions, especially when we are well aware of the potential consequences of our behavior?”  Very simply, it is because the present moment is a stronger driver of behavior than an uncertain future.  How do we make the future a major player in our decisions today?  Perhaps knowing more about that future would help.

I wanted to know more about my genetics so that I can’t fool myself about the consequences of my decisions.  I could easily dismiss my uncle’s death and instead reassure myself with the story of my great aunt who lived to nearly 100 years old. I want my decisions guided by facts, not hopes. I am not just referring to my decisions about my own lifestyle, but the decisions I make for my 5 year old daughter, the recipient of my genes.  I have nearly full control (right now) of her lifestyle.  Am I making the choices that are in the best interests of her biology?  I need to better understand my biology to dispel the temptation to believe that I’m perfectly healthy, when nobody is.  We all have genetic vulnerabilities.  We all have an unknown future. Not being aware of your vulnerabilities does not make them disappear.

The Results Are In…

My heart raced the moment I received the email that the results were ready for viewing.  As is likely the case for everybody, there was some good news and some bad news.  The bad news was that my family history of heart disease was indeed indicative of a genetic vulnerability.  At the top of the list of diseases for which I have increased risk was coronary heart disease (CHD).  My risk for developing CHD between the ages of 49-79 is 1.5 times higher than the average woman of my ethnicity.  The good news is that 23andme.com tells me that the heritability of CHD ranges from 39-56%, which means that my genes account for only that much of my risk, while my lifestyle accounts for the rest.   Type 2 diabetes was second highest on my list of disease risks.  My risk for developing diabetes is 1.3 times higher than the average woman of my ethnicity.  The heritability of type 2 diabetes is 26% which means my lifestyle will pull some major weight in determining my risk.  Next on the list was Parkinson’s disease (my risk is 1.25 higher than average) which came as a surprise because it has not yet affected my family.  The heritability of Parkinson’s is 27% which means I have a great deal of control over my risk for this as well.  I appreciated that 23andme.com provided the heritability estimates because that information empowers me to take control of my health.  Even for something as heritable as CHD, I am still the CEO of my health, not my genes.

How It Changes Things

These are just 3 of the 200 results I received.  I learned a great deal of other things about my health.  I think about it a lot. I’m disappointed about some things, of course, but more than anything, empowered. The results have impacted my life in a variety of ways.

My doc

As a next step, I will be sharing the results with my primary care physician so that it may inform her decisions about how to interpret any symptoms  I report, which tests I should have at various stages of my life, and how aggressively to treat any problems that arise.  This will be an important tool for my health care.

My behavior

The results have also affected my lifestyle.  23andme.com pointed me to relevant studies for guidance.   In one study, people with my CHD genetic profile who consumed a diet high in raw fruit and vegetables actually had no greater risk for cardiac events than people who had a genetic profile that was protective of CHD.  This not only gives me hope, but specific guidance on how to protect myself.   They also reported on studies showing that exercise is instrumental in preventing diabetes (as most of us are aware), and also Parkinson’s Disease.  Now when I exercise, I think more about the specific risk factors that I’m staving off than about the scale I stand on each day.  The findings have put me on a mission.  I will be vigilant of research literature relevant to my specific risk factors.  I’m taking advantage of the lifestyle part of the equation, knowing that my risk is more heavily determined by my behavior than my genes.

My family

I shared the results with my family.  They took a keen interest.  I also shared what I learned in terms of specific lifestyle factors.  My sister and I have doubled our commitment to consuming fruit and vegetables, reporting to each other via text messages how well we are doing throughout the day.  I shared the results with my mother, who is pre-diabetic, but has been skillfully keeping type 2 diabetes at bay via her daily walks and healthy diet choices.  The information clearly motivated her to stay on track and made her feel proud of how her efforts have overcome what is likely her genetic vulnerability too. The results have also impacted how I’m raising my daughter.  For example, I’m planning her 5th birthday party.  Pizza, candy and treats are off the menu, to be replaced by items such as fruit salad, vegetables with hummus, low-fat cheese, whole grain crackers, and a small cake.  (I will be writing a blog post about my daughter’s healthy 5 year old birthday party makeover.)  I will be more closely tracking her diet on a daily basis as well.  While she’s young, I’m CEO of her health too.

Science

Shortly after I learned the results, I made donations to the American Heart Association, the American Diabetes Association, and the Parkinson’s Disease Foundation.  My charitable work will more sharply focus on the diseases for which I am at the highest risk.  I am grateful for the science that has educated me and I will support the organizations that help that science grow as well as the clinical care they provide for people affected by these diseases.

Community

We all carry vulnerabilities for disease.  Now that I know mine, I wonder about the vulnerabilities of people around me.  I don’t want to be a negative force in the lifestyle part of the equation for anybody.  I commit myself to being a healthy influence for others by not bringing my leftover junk food to work for others to be tempted, to not lace my celebrations with unhealthy temptations, to cheer on strangers over social media when they report health accomplishments, and to engage my friends and family in physical activities.  We are all in this together.

Why did I want to find out about my genes?   Because as CEO of my health, I’m not going down without a fight.

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If you are interested in genetic testing but feel anxious about learning the results, review your results in the presence of your physician or a genetic counselor.

The author and her relatives have no financial, personal or professional relationships with 23andme.com.

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One Comment

  1. Janet Huehls says:

    Sherry, thank you for your last post on genetic testing. You put a positive spin on what could be very anxiety producing. This science is there to help guide our choices. It really is essential to know we ultimately are not in total control but have a great influence over our health and quality of life. Great job!

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