Can a Genetic DNA Test Provide Real Insight on Your Health?

Written by Dr. Steve Chaney on . Posted in genetic dna testing

None Of Us Are Perfect

Author: Dr. Stephen Chaney

 

genetic dna testMost of us think of genetic diseases as something that is very rare. We have learned about diseases like cystic fibrosis or sickle cell disease in school. Those are examples of diseases caused by a rare mutation. If both chromosomes carry the mutation, you have the disease. If not, you don’t.

Can a genetic dna test give you real insight on your health?

We also know that family history is a strong predictor of genetic predisposition. If you are a guy, and most of the males in your family tree have dropped dead of a heart attack at an early age, you can assume you are genetically predisposed to heart disease. If you are a gal and most of the women in your family tree have developed breast cancer at an early age, you can assume you are genetically predisposed to breast cancer.

However, if none of these apply, we assume we are “normal”. We think we’ll probably live to 120. All this healthy lifestyle “stuff” is nice, but it isn’t a priority. It makes me think of Garrison Keillor’s tales of “Lake Wobegon” where all the children were above normal.

What if that weren’t true? What if none of us were normal? What if all of us are predisposed to some disease, perhaps even multiple diseases, and didn’t know it? Would that change how we thought about making the effort to follow a healthy lifestyle?

None Of Us Are Perfect

humans are not perfectOn one hand, this study (MacArthur et al, Science, 335: 823 – 828, 2012 ) may seem of interest only to geneticists, but its implications are huge. The authors looked at genetic variation among the human genomes sequenced as part of the human genome project. Specifically, they looked for loss of function (LOF) variants – mutations that would either partially or completely prevent the synthesis of a functional protein.

After a very complex genetic analysis they concluded that each of us harbors about ~100 LOF variants (mutations) in our genome.

Some of those mutations were in genes coding for proteins that have no known function. Other mutations coded for proteins whose loss might affect minor things like taste sensation.

Still other mutations were in genes coding for proteins that were redundant because there are other proteins in the cell that can perform the same function (Just as NASA designed the space shuttle with backup systems that could take over if a primary system failed, our bodies are frequently designed with more than one enzyme that can carry out the same function).

And, as you might expect, some of those mutations were in genes associated with known diseases like sickle cell disease or cystic fibrosis – but those mutations were very rare.

However, the authors concluded that each of us harbors about 20 LOF mutations that completely inactivate essential genes and might increase the probability that we will develop certain diseases.

That got me thinking. It validated scientifically something that we have all known instinctively for a long time – none of us are perfect. Or, as my childhood friends might have more cruelly put it: “We’re all defective in one way or another.”

What Does This Mean For You?

Now some of you may be saying: “What does this mean for me?” When you carry this idea through to its ultimate conclusion, the bottom line message is:

1) Nutritional recommendations are based on averages – none of us are average.

2) The identified risk factors for developing diseases are based on averages – none of us are average.

3) Clinical trial results are based on averages – none of us are average.

4) Clinical trials on the benefits and dangers of supplementation are based on averages – none of us are average.

5) Even clinical trials of drug efficacy for treating disease or drug safety are based on averages – none of us are average.

That means lots of the advice you may be getting about your risk of developing disease X, the best way to treat disease X, or the role of supplementation in preventing disease X may be generally true – but it might not be true for you.

So, my advice is not to blindly accept the advice of others about what is right for your body. Learn to listen to your body. Learn what foods work best for you. Learn what exercises just feel right for you. Learn what supplementation does for you.

Don’t ignore your doctor’s recommendations, but don’t be afraid to take on some of the responsibility for your own health. You are a unique individual, and nobody else knows what it is like to be you.

 

What Can a Genetic DNA Test Tell You About Your Health?

no-one is averageYou may be thinking: “If we know all the loss of function (LOF) mutations that cause disease, I should just send my saliva off to one of those companies that promises to give you a genetic DNA test and advise you of all your disease risks.”

Not so fast. It isn’t that simple. Here’s what those genetic testing companies aren’t telling you.

  • Genetic predisposition to most diseases is caused by multiple mutations that each make small contributions to your disease risk. There are only a few LOF mutations that dramatically increase your risk of major diseases like cancer, heart disease, and diabetes. Unless you have one of those rare mutations, you are in the dark about your disease risk.
  • LOF mutations are just the tip of the iceberg. There are many more mutations that affect regulation of metabolic pathways which impact your health. Many of these mutations are poorly defined at present. You might get a perfect score on your genetic testing and still be at risk for some major diseases.
  • The effect of LOF mutations on health outcomes varies from person to person. This is a phenomenon that my geneticist colleagues call “penetrance”. Simply put, the effect of any single mutation is modified by the expression of multiple other genes, which also vary from person to person. Your “score” on a genetic testing analysis may not predict your actual risk of disease.
  • Gene expression is modified by diet, lifestyle, and your environment. I have discussed this in previous articles like “Can Diet Alter Your Genetic Destiny?” and “What Is Epigenetics?”.  In short, genes do not determine your destiny. Your healthy lifestyle may protect you from a genetic predisposition to disease. Your unhealthy lifestyle may doom you to poor health in spite of a perfect score on your genetic testing analysis.

I only recommend genetic testing if you have a strong family history of a major disease and plan on working with a certified genetic counselor who can put the results of the analysis into the proper context.

 

The Bottom Line

 

  • A recent study looked at genetic variation among the human genomes sequenced as part of the human genome project. Specifically, the authors looked for loss of function (LOF) variants – mutations that would either partially or completely prevent the synthesis of a functional protein.
  • After a very sophisticated statistical analysis, the authors concluded that each of us harbors about 20 LOF mutations that completely inactivate essential genes and might increase the probability that we will develop certain diseases.
  • That means none of us are perfect. None of us are “average”. We all have genetic defects that predispose us to certain diseases. The implications are staggering.
  • Nutritional recommendations are based on averages – none of us are average.
  • The identified risk factors for developing diseases are based on averages – none of us are average
  • Clinical trial results are based on averages – none of us are average.
  • Clinical trials on the benefits and dangers of supplementation are based on averages – none of us are average.
  • Even clinical trials of drug efficacy for treating disease or drug safety are based on averages – none of us are average.
  • That means lots of the advice you may be getting about your risk of developing disease X, the best way to treat disease X, or the role of supplementation in preventing disease X may be generally true – but it might not be true for you.
  • So, my advice is not to blindly accept the advice of others about what is right for your body. Learn to listen to your body. Learn what foods work best for you. Learn what exercises just feel right for you. Learn what supplementation does for you.

I am not saying we know everything we need to know about genetic predisposition to disease. I’m not saying that genes determine our destiny. I’m not recommending you send off your saliva for a genetic analysis to determine your risk of developing a major disease. To understand why, read the article above.

These statements have not been evaluated by the Food and Drug Administration. This information is not intended to diagnose, treat, cure or prevent any disease.

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Latest Article

Can Plant-based Diets Be Unhealthy?

Posted September 10, 2019 by Dr. Steve Chaney

Do Plant-Based Diets Reduce Heart Disease Deaths?

Author: Dr. Stephen Chaney

 

plant-based diets vegetablesPlant-based diets have become the “Golden Boys” of the diet world. They are the diets most often recommended by knowledgeable health and nutrition professionals. I’m not talking about all the “Dr. Strangeloves” who pitch weird diets in books and the internet. I am talking legitimate experts who have spent their life studying the impact of nutrition on our health.

Certainly, there is an overwhelming body of evidence supporting the claim that plant-based diets are healthy. Going on a plant-based diet can help you lower blood pressure, inflammation, cholesterol and triglycerides. People who consume a plant-based diet for a lifetime weigh less and have decreased risk of heart disease, diabetes, and cancer.

But, can a plant-based diet be unhealthy? Some people consider a plant-based diet to simply be the absence of meat and other animal foods. Is just replacing animal foods with plant-based foods enough to make a diet healthy?

Maybe not. After all, sugar and white flour are plant-based food ingredients. Fake meats of all kinds abound in our grocery stores. Some are very wholesome, but others are little more than vegetarian junk food. If you replace animal foods with plant-based sweets, desserts, and junk food, is your diet really healthier?

While the answer to that question seems obvious, very few studies have asked that question. Most studies on the benefits of plant-based diets have compared population groups that eat a strictly plant-based diet (Seventh-Day Adventists, vegans, or vegetarians) with the general public. They have not looked at variations in plant food consumption within the general public. Nor have they compared people who consume healthy and unhealthy plant foods.

This study (H Kim et al, Journal of the American Heart Association, 8:e012865, 2019) was designed to fill that void.

 

How Was The Study Done?

plant-based diets studyThis study used data collected from 12,168 middle aged adults in the ARIC (Atherosclerosis Risk in Communities) study between 1987 and 2016.

The participant’s usual intake of foods and beverages was assessed by trained interviewers using a food frequency questionnaire at the time of entry into the study and again 6 years later.

Participants were asked to indicate the frequency with which they consumed 66 foods and beverages of a defined serving size in the previous year. Visual guides were provided to help participants estimate portion sizes.

The participant’s adherence to a plant-based diet was assessed using four different well-established plant-based diet scores. For the sake of simplicity, I will include 3 of them in this review.

  • The PDI (Plant-Based Diet Index) categorizes foods as either plant foods or animal foods. A high PDI score means that the participant’s diet contains more plant foods than animal foods. A low PDI score means the participant’s diet contains more animal foods than plant foods.
  • The hPDI (healthy plant-based diet index) is based on the PDI but emphasizes “healthy” plant foods. A high hPDI score means that the participant’s diet is high in healthy plant foods (whole grains, fruits, vegetables, nuts, legumes, coffee and tea) and low in animal foods.
  • The uPDI (unhealthy plant-based diet index) is based on the PDI but emphasizes “unhealthy” plant foods. A high uPDI score means that the participant’s diet is high in unhealthy plant foods (refined grains, fruit juices, French fries and chips, sugar sweetened and artificially sweetened beverages, sweets and desserts) and low in animal foods.

For statistical analysis the scores from the various plant-based diet indices were divided into 5 equal groups. In each case, the group with the highest score consumed the most plant foods and least animal foods. The group with the lowest score consumed the least plant foods and the most animal foods.

The health outcomes measured in this study were heart disease events, heart disease deaths, and all-cause deaths. Again, for the sake of simplicity, I will only include 2 of these outcomes (heart disease deaths and all-cause deaths) in this review. The data on deaths were obtained from state death records and the National Death Index. (Yes, your personal information is available on the web even after you die.)

 

Do Plant-Based Diets Reduce Heart Disease Deaths?

plant-based diets reduce heart deathsThe participants in this study were followed for an average of 25 years.

The investigators looked at heart disease deaths over the 25 years and compared people with the highest intake of plant foods to people with the highest intake of red meat and other animal foods. The results were:

  • People with the highest intake of plant foods and the highest intake of healthy plant foods (whole grains, fruits, vegetables, nuts, legumes, coffee and tea) had a 19-32% lower risk of dying from heart disease than people with the highest intake of red meat and other animal foods.
  • People with the highest intake of unhealthy plant foods (refined grains, fruit juices, French fries and chips, sugar sweetened and artificially sweetened beverages, sweets and desserts) had the same risk of dying from heart disease as people with the highest intake of red meat and other animal foods.

When the investigators looked at all-cause deaths over the 25 years:

  • People with the highest intake of plant foods and the highest intake of healthy plant foods had an 11-25% lower risk of dying from any cause than people with the highest intake of red meat and other animal foods.
  • People with the highest intake of unhealthy plant foods had the same risk of dying from heart disease as people with the highest intake of red meat and other animal foods.

What Else Did The Study Show?

The investigators made a couple of other interesting observations:

  • The association of the overall diet with heart disease and all-cause deaths was stronger than the association of individual food components. This underscores the importance of looking at the effect of the whole diet on health outcomes rather than the “magic” foods you hear about on Dr. Strangelove’s Health Blog.
  • Diets with the highest amount of healthy plant foods were associated with higher intake of carbohydrates, plant protein, fiber, and micronutrients, including potassium, magnesium, iron, vitamin A, vitamin C, folate, and lower intake of saturated fat and cholesterol.
  • Diets with the highest amount of unhealthy plant foods were associated with higher intake of calories and carbohydrates and lower intake of fiber and micronutrients.

The last two observations may help explain some of the health benefits of plant-based diets.

 

Can Plant-Based Diets Be Unhealthy?

plant-based diets unhealthy cookiesNow, let’s return to the question I asked at the beginning of this article: “Can plant-based diets be unhealthy?” Although some previous studies have suggested that unhealthy plant-based diets might increase the risk of heart disease, this study did not show that.

What this study did show was that an unhealthy plant-based diet was no better for you than a diet containing lots of red meat and other animal foods.

If this were the only conclusion from this study, it might be considered a neutral result. However, this result clearly contrasts with the data from this study and many others showing that both plant-based diets in general and healthy plant-based diets reduce the risk of heart disease deaths and all-cause deaths compared to animal-based diets.

The main message from this study is clear.

  • Replacing red meat and other animal foods with plant foods can be a healthier choice, but only if they are whole, minimally processed plant foods like whole grains, fruits, vegetables, nuts, legumes, coffee and tea.
  • If the plant foods are refined grains, fruit juices, French fries and chips, sugar sweetened and artificially sweetened beverages, sweets and desserts, all bets are off. You may be just as unhealthy as if you kept eating a diet high in red meat and other animal foods.

There is one other subtle message from this study. This study did not compare vegans with the general public. Everyone in the study was the general public. Nobody in the study was consuming a 100% plant-based diet.

For example:

  • The group with the highest intake of plant foods consumed 9 servings per day of plant foods and 3.6 servings per day of animal foods.
  • The group with the lowest intake of plant foods consumed 5.4 servings per day of plant foods and 5.6 servings per day of animal foods.

In other words, you don’t need to be a vegan purist to experience health benefits from adding more whole, minimally processed plant foods to your diet.

 

The Bottom Line

A recent study analyzed the effect of consuming plant foods on heart disease deaths and all-cause deaths over a 25-year period.

When the investigators looked at heart disease deaths over the 25 years:

  • People with the highest intake of plant foods and the highest intake of healthy plant foods had a 19-32% lower risk of dying from heart disease than people with the highest intake of red meat and other animal foods.
  • People with the highest intake of unhealthy plant foods had the same risk of dying from heart disease as people with the highest intake of red meat and other animal foods.

When the investigators looked at all-cause deaths over the 25 years:

  • People with the highest intake of plant foods and the highest intake of healthy plant foods had an 11-25% lower risk of dying from any cause than people with the highest intake of red meat and other animal foods.
  • People with the highest intake of unhealthy plant foods had the same risk of dying from heart disease as people with the highest intake of red meat and other animal foods.

The main message from this study is clear.

  • Replacing red meat and other animal foods with plant foods can be a healthier choice, but only if they are whole, minimally processed plant foods like whole grains, fruits, vegetables, nuts, legumes, coffee and tea.
  • If the plant foods are refined grains, fruit juices, French fries and chips, sugar sweetened and artificially sweetened beverages, sweets and desserts, all bets are off. You may be just as unhealthy as if you kept eating a diet high in red meat and other animal foods.

A more subtle message from the study is that you don’t need to be a vegan purist to experience health benefits from adding more whole, minimally processed plant foods to your diet. The people in this study were not following some special diet. The only difference was that some of the people in this study ate more plant foods and others more animal foods.

For more details on the study, read the article above.

 

These statements have not been evaluated by the Food and Drug Administration. This information is not intended to diagnose, treat, cure or prevent any disease.

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