Using health risk as a roadmap for your future

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by Jen Helgeson Genetic Coordinator, Celmatix


As a genetic coordinator at Celmatix, part of my job is to distill complex, sometimes intimidating information into empowering tools for making big decisions. Earlier this year, Celmatix announced the Fertilome® genetic test, which identifies risk factors for several reproductive conditions associated with a woman’s fertility. My conversations with patients and physicians focus on how they can use the information about these risks to better understand reproductive health.

But these conversations are not always easy. Risk can be an intimidating word and its definition is not always presented in the correct context. Today I’d like to explain how people can recognize and understand health risks and use information about their personal risk to positively impact their lives.

Everyday risks vs. health risks

There’s inherent risk in everything you do. Stepping out of your front door and onto the sidewalk isn’t as safe as you might think. Pedestrian deaths account for 15% of all traffic fatalities — 6,000 per year in the U.S. If you’re walking in heels, you could be increasing your risk of serious muscle and joint strains. And once you make it to the coffee shop, be careful — that cup of joe could leave you with burns over 6% of your body.

Most of these everyday risks are relatively small. We learn to live with them and we take steps to minimize them, or else we’d never leave the house.

But health risks are different. They’re personal, for one, which makes them harder to wave away with “that couldn’t happen to me” rationalizations. More importantly, the personal and emotional significance that health risks can carry make them more difficult to understand.

One very personal health risk that continues to make headlines is a woman’s risk of developing breast cancer. Any woman in the United States has a 1-in-8 chance of developing breast cancer in her lifetime, but that chance goes up by 20–40% for postmenopausal women who are obese and it goes down by about 20% for those same women if they are physically active. Dozens of other factors have been shown to impact that risk even further.

Head spinning yet? You’re not alone. All these risk factors can lead to being overwhelmed. And even if you do take the time to really understand your own personal risk, you still have to deal with the question of what to do about it.

How to make sense of potential health risks

It’s not uncommon for a discussion about health risks to cause feelings of stress, which can be compounded as physicians incorporate big data and genetic testing into their practices. In the past, when a doctor offered a test, a patient would reasonably expect to receive a clear diagnosis from the test. Receiving bad news after a diagnostic test isn’t easy, but receiving definitivenews at least gives you a clearer understanding of what to do next.

Today, physicians and scientists are increasingly using risk assessments and genetic tests to understand what a person’s health, lifestyle, DNA, and family history today may reveal about their likelihood of developing a certain condition in the future.

This is all part of the Precision Medicine Initiative that was introduced in 2015. Historically, medical decision making has been made based on how the average patient would respond to a given treatment. Little consideration was given to people who didn’t have the “average response” and even less attention was paid to how to prevent disease in the first place. The goal of precision medicine (also called personalized medicine) is to understand how a person’s unique genetics, environmental exposures, and lifestyle choices together cause disease, with the goal of reducing individual risk and finding the right treatment for every patient when illness occurs.

Risk vs. destiny

The most important thing you have to understand about risk is what it isn’t: Destiny. Having an increased risk for a condition does not guarantee that you will develop it.

Think about your annual flu shot. Getting a flu shot can decrease your risk of contracting influenza by up to 60 percent. If you choose not to get a flu shot, you will have an increased risk of catching the flu, but that doesn’t translate into a 100% guarantee that you will get sick.

When it comes to fertility risks, women over the age of 35 are classified as “high risk” for having a baby with Down syndrome, even though that chance is actually one in 350 or less than half of 1%. That means 99% of women over 35 will not have a baby with Down syndrome. The reason for this “high risk” designation, is that a woman who is 25 has a less than one in 1000 chance to have a baby with Down syndrome. Obviously, the chance is higher for a woman who is 35, but the actual number is still very small.

So when considering health risks, it’s important to understand how to weigh both the condition’s prevalence (how common the condition actually is) and your own relative risk (the probability of an event occurring to you).

Even small numbers can lead to big changes

Just because the absolute risk (the real number) for a condition is low doesn’t mean that understanding and managing that risk isn’t important.

Consider Sudden Infant Death Syndrome (SIDS). Before the 1990s, parents were instructed to put their babies on their tummies to sleep. At that time, the risk of SIDS was 103.3 per 100,000 babies born, or .001%. That’s not a huge number, but on a national scale, it meant that thousands of families were devastated by the unexplained loss of their babies. Then, researchers learned that babies who slept on their stomachs were at increased risk of SIDS, and the NIH launched the Safe to Sleep® campaign.

Educating parents about this increased risk caused the national incidence of SIDS to drop by 60% to 39.4 deaths per 100,000 births. SIDS hasn’t been eradicated, but because the risk is properly managed thousands more babies are surviving into childhood.

Making risk personal

This brings us back to the goal of the Precision Medicine Initiative to understand how a person’s genetics, environment, family history, and lifestyle together can impact their health risks.

Celmatix’s Fertilome genetic test includes genetic markers that have been associated with increased risk for a number of different reproductive conditions that may impact a woman’s fertility. The conditions that impact fertility in women are multifactorial, meaning they are caused by a combination of genetics and environment. The results of the Fertilome test cannot predict that a condition will definitely occur, but it can assess if certain genetic factors exist that may increase a woman’s risk above the risk found in the general population for certain reproductive conditions that are associated with fertility.

The Fertilome genetic test includes genetic risk factors for primary ovarian insufficiency (POI), sometimes also referred to as early menopause. In addition to having an increased risk of infertility, women with POI may also have an increased risk for other health problems, such as heart disease and premature bone loss because they may go into menopause 10 or more years earlier than other women. The NIH estimates that POI affects 1% of women and teenage girls in the United States. While 1% may feel like a very small risk at a population level, it is important to consider the impact if you fall into that 1%. Developing POI could fundamentally change your ability to have a family one day.

The decision to obtain this type of health risk information through genetic testing is a very personal, and one that a woman should consider with her health care provider. So in this new era of understanding risk, what do you need to know?

What to do with risk

If you learn you’re at increased risk for a given condition either by genetic testing, looking at your family history, or understanding how your environment plays a role in your health, you are armed with information that may help you and your physician better manage your long-term health.

Managing risk may include lifestyle changes depending on the type of condition you’re managing, such as increasing activity levels, lowering sugar intake, or decreasing alcohol consumption to lower risk for heart disease or type 2 diabetes. When risk cannot be eliminated altogether, you may be advised to have increased screening, such as in the case of women with a family history of breast cancer who may start mammograms earlier than the recommended age of 40.

In the case of the Fertilome genetic test, a woman who discovers she’s at increased risk for developing a reproductive condition may choose to pursue fertility preservation methods, such as egg freezing, or decide with her partner not to delay starting a family. A woman experiencing prolonged infertility could gain insight into the possible genetic underpinnings of her infertility and pursue more effective treatment options. There is no correct or definitive answer based on the risks revealed by the Fertilome test, but women can use their new understanding of these risks to create a more personalized plan with their doctors that incorporates genetics, family building goals, family history, and lifestyle choices.

We manage risk in all facets of our lives. We put on a seatbelt when we get into a car. We look both ways before crossing the street. We put our babies on their backs, and we get our immunizations. These are things we do because they have been shown to increase our chances for long and healthy lives.

The more you understand your personal, relative health risks, the more informed you will be to make decisions with your doctor that can increase your chances of having the healthy and fulfilling life you know you want.

If you have additional questions about genetic risk, especially as it relates to women’s reproductive health and fertility, reach out to us on Twitter @celmatix.