What If Your DNA Gave You a Head Start?

There are things about ourselves we choose to know, things we would rather not know, and things we don't even realize are available for us to know.

Genetics can fall somewhere in the middle.

Some people are eager to know everything their DNA might reveal. Others understandably wonder whether knowing would simply give them something else to worry about.

I understand both perspectives.

But I have come to see genetic information somewhat differently.

I don't think of it as a prediction of my future. I think of it as a head start.

A Mutation Is Information. It Is Not an Identity.

I carry a BRCA2 pathogenic variant.

It is an important fact about my health, but it isn't something that defines me.

Neither is cancer.

I have had cancer. I have undergone chemotherapy and multiple major surgeries. Eventually, my entire pancreas was removed, and today I live without one.

And I do mean live.

I work. I travel. I walk miles. I cook. I laugh. I take photographs. I make plans. I dream about places I haven't visited yet. I love my family fiercely. I watch sunsets. I look forward to tomorrow.

My life is rich and full, and today I am cancer-free.

BRCA2 became another piece of information that allowed me to protect that life.

Once I knew that I carried the mutation, I had choices.

After thoughtful conversations with my physicians, I chose to have my ovaries and fallopian tubes removed. Later, I chose to have a prophylactic nipple-sparing mastectomy with reconstruction.

Those weren't decisions cancer made for me.

I made them on my terms.

There is an enormous difference between those two things.

What If We Could Know Before Something Goes Wrong?

That is one reason I find MUSC's In Our DNA SC research study so interesting.

The Medical University of South Carolina, in partnership with Helix, is conducting a large community health research project examining how DNA affects health.

Participation and the genetic screening provided through the study are offered at no cost to participants.

And importantly, they aren't looking for hundreds of obscure genetic differences that might leave someone wondering what to do with the information.

The study focuses on inherited variants associated with three conditions for which knowing can potentially change medical care:

Hereditary Breast and Ovarian Cancer Syndrome (HBOC)

The study examines BRCA1 and BRCA2, genes most people associate with breast and ovarian cancer. These mutations matter for men, too, and can be associated with increased risks of prostate, pancreatic, and male breast cancer.

Lynch Syndrome

Lynch syndrome is the most common inherited cause of colorectal cancer and can also increase the risk for several other cancers. Knowing that someone has Lynch syndrome can change when screening begins and how frequently it is performed.

Familial Hypercholesterolemia (FH)

FH is an inherited condition that causes very high cholesterol and can lead to premature cardiovascular disease. Identifying it can allow treatment and cardiovascular risk reduction to begin much earlier.

These particular conditions were selected because they are actionable.

Finding increased genetic risk creates an opportunity to act on the information. Earlier screening, more frequent surveillance, preventive treatment or medication, risk-reducing options, and attention to modifiable lifestyle factors may all become part of the conversation.

And Most People Will Not Receive a Positive Result

Here's another part I think is worth understanding.

According to MUSC, only about 1–2% of participants — roughly one or two people out of every hundred — are expected to be identified as having an inherited risk associated with one of the conditions included in the study.

So this isn't a situation in which everyone who participates should expect to uncover frightening news.

Most won't.

But imagine being one of the one or two percent who does.

That result doesn't mean you have cancer.

It doesn't mean you are going to develop cancer.

And it doesn't mean you are going to develop heart disease.

It means something much more nuanced:

Your inherited risk may be higher, and now you know.

MUSC offers participants who receive an increased-risk result a genetic counseling appointment at no cost. A genetic counselor can explain what the particular variant means, what it may mean for family members, and what follow-up care to consider.

The study itself does not pay for additional clinical follow-up, but the information can provide a starting point for a conversation with an appropriate healthcare provider.

Family History Doesn't Always Tell the Whole Story

One of the things I find especially valuable about population genetic screening is that we often think we would somehow know if something significant ran in our family.

That's not necessarily true.

Families are complicated. They can be small. People die from unrelated causes before developing a genetically associated disease. Medical histories get lost between generations. Someone may inherit a mutation from a father and incorrectly assume a gene associated with "breast and ovarian cancer" couldn't possibly have come through his side of the family.

And sometimes there simply isn't an obvious trail to follow.

That is part of the premise behind population screening: family history and routine medical screening alone do not always identify inherited risk.

Knowing Isn't the Same as Worrying

I think this may be the most important distinction.

Genetic information can sound frightening because our minds naturally jump from risk to disease.

But risk isn't destiny.

We all carry risks we know about and probably plenty we don't.

Finding a pathogenic genetic variant doesn't guarantee that a person will ever develop the associated disease. It changes the information available when that person and their healthcare team make decisions.

Perhaps that means screening earlier.

Perhaps it means screening more frequently.

Perhaps it means medication.

Perhaps it means paying greater attention to cholesterol, exercise, nutrition, smoking, weight or other modifiable risks.

And in certain circumstances, perhaps it means considering preventive surgery.

The right answer will not be the same for everyone.

The gift isn't being told what to do. The gift is having enough information to decide what is right for you.

Sometimes the Information Travels Beyond Us

Another layer of genetic testing is particularly meaningful to me.

Our DNA isn't exclusively ours.

We inherited it from the people who came before us, and portions of it continue through the people who come after us.

A genetic finding in one person can sometimes provide useful information for siblings, parents, children, and extended family members.

That doesn't mean anyone else has to be tested. Everyone gets to make that decision for themselves.

But one person's decision to learn may create an opportunity for someone else to ask a question they otherwise never would have known to ask.

And that can ripple through generations.

I Would Still Choose to Know

I understand why someone might decide genetic testing isn't for them.

There are emotional considerations. There are privacy considerations. There can be implications for family members. Participating in a research study is also different from simply ordering a clinical laboratory test, and anyone considering participation should read the study consent carefully and decide whether they are comfortable with it.

I respect that.

But if you ask me personally whether I would rather know?

Yes. Every time.

Not because I want to spend my life anticipating illness.

Quite the opposite.

I want information that might help me spend less of my life dealing with illness and more of it actually living.

My BRCA2 mutation does not define me.

Neither does the cancer I've had.

Neither does living without a pancreas.

Those things occupy a remarkably small amount of real estate in the life I actually experience every day.

But knowing about my genetic risk gave me something incredibly valuable:

the ability to make choices before another disease made those choices for me.

And perhaps that is the healthiest way I know to think about genetics.

Your DNA isn't a crystal ball.

It cannot tell you exactly what your life will look like.

Sometimes, though, it can turn on a light a little farther down the road.

And if something ahead is something I might be able to avoid, prepare for, screen for earlier, or catch while it is still treatable, I'd rather have the light on.

Because the point of knowing isn't to spend more time thinking about disease.

The point is to give ourselves every reasonable opportunity to spend more time living.

🐝 Honey Note

Knowledge doesn't have to become fear.

Sometimes knowledge simply gives us choices — and choices give us the opportunity to take better care of this one lovely life we've been given.

Learn what you can. Change what you can. Screen for what you can. And then go live your life.

Your genes may be part of your story, but they never get to write the whole thing. 💛

Here’s to knowing what we can, changing what we can, and then getting on with the lovely business of living.

With a grateful heart, a little extra knowledge, and a whole lot of life still to live,

🍯 Honey 🐝💛