When it Comes to Genetic Information, Sharing is Caring

Imagine you find out you are at increased risk to develop colon cancer. And not just a small increase in risk, rather a lifetime chance of up to 80 percent to develop cancer kind of risk. You might feel empowered, overwhelmed or even downright terrified.

Now imagine that increased risk is due to a genetic mutation passed down in your family. Depending on how closely you are related, your relatives could have up to a 50 percent chance of having your same mutation. How might you feel sharing this information with them? Do you view yourself as the bearer of bad news? Or as giving your loved ones an invaluable gift? After all, you could be the one that brings to light information they and their healthcare providers need to make smart choices about cancer screening and prevention -- the kind of actions that can literally save lives.

I recently had the opportunity to speak with Georgia Hurst, the founder and executive director of the nonprofit ihavelynchsyndrome.org. After losing one brother to colon cancer and having another brother diagnosed, Georgia learned she has Lynch syndrome. Lynch syndrome is a hereditary cancer syndrome that puts her (and any of her relatives that share her mutation) at risk for not just colon cancer, but also other cancers such as uterine, ovarian, stomach and small bowel cancer. Family communication about risk is one of the toughest topics in genetics, and I wanted to hear from Georgia about how her family handled spreading the news of the mutation and what she tells other people in the same situation.

Below are excerpts from our conversation:

Let’s start from the beginning. How did you end up getting genetic testing?

My brother had already died from colon cancer. Then my other brother was diagnosed. Based on our family history, his doctor had him get genetic testing. He didn’t see a genetic counselor either before or after testing. When he got his results, which showed he had a mutation in the MLH1 gene, there was no one to help him truly understand and cope with the implications.

But his doctor did tell him that he should let me know that I should be tested. I talked to my own doctor and he referred me to a genetic counselor who was able to help me understand the implications of my brother’s results. About a week after meeting with the genetic counselor, I decided to get tested.

What is it like to wait, knowing that you had a 50 percent chance of carrying the same mutation as your brother?

It was hard. I had watched my brother die of colon cancer at 36, leaving behind his young family. I had also lost my mother at a young age (though not from cancer), so all I could think about was what this could mean for my son who was eight years old at the time. But it was this drive to make sure I was there as a mother that made me get testing in the first place, so I could take all the actions necessary to make sure I am here for my son.

Did you tell your son about getting tested? Did you tell him the results?

We have a very close relationship and I’ve always kept him in the loop about what was going on with our family. He knew his uncle had died of colon cancer and that I was getting colonoscopies every couple of years because of my family history.

I told my son as soon as I got my results. He was eight at the time, but is a really bright, science savvy kid. He understood a lot of what I was talking about.

Georgia and her son.
Georgia and her son.

Did you share your results with the rest of your family?

My genetic counselor provided me with a helpful letter that gave some background information on Lynch syndrome, as well as details about my specific mutation. Given my family history, it seemed likely that the mutation came from my father’s side of the family. So I sent the letter out via email and regular mail to all of my relatives on my father’s side.

How did they react?

There were various reactions. One of my cousins, who has daughters and grandchildren, did get tested. His daughters encouraged him because finding out whether he had the mutation would let them know if they or their children were at risk. Thankfully, he was negative.

That same cousin’s brother told me he wasn’t going to get tested. He thinks he’s already doing enough to stay healthy and that genetic results won’t change anything for him. I tried to explain that there really are other things he might need to be doing to reduce his risk, but in the end it was his decision to make.

I had other family members who just ignored the information I provided or even got angry with me for “trying to scare them”. It’s very disconcerting to have information you know can help someone, but they choose not to listen.

How do you move past that?

Every person has the right to decide whether they want to pursue genetic testing or not.

I can’t do anything to change the minds of some people in my family, but my experience with them is a large part of what has fueled my advocacy work. Even if my family won’t listen, maybe someone else will.

Why do you think some people don’t want to get testing?

There are a constellation of factors -- social and economic status, education, cultural and religious beliefs. A lot of that comes into play. But it breaks my heart because I know a lot of people are going to get cancer as a result of Lynch syndrome. If we can educate people about genetic testing, some of those cancers can be prevented or at the very least, detected early when they are most treatable.

In your opinion what is the single most important thing that needs to be shared with family members after a mutation has been found?

The number one thing in my mind is to find a certified genetic counselor.

It’s also really important to get a letter that describes your mutation and your hereditary cancer syndrome that you can share with family members. That way you are giving people all the information they need to be able to go talk to their own provider or genetic counselor.

I also refer a lot of people to kintalk.org, an educational and family communication site for those with hereditary cancer syndromes. It helps people easily and securely share important genetic health information with at risk family members and access high quality educational materials.

Looking forward....do you think your son will get testing? Do you want him to?

After doing a lot of reading and research, I’ve reconciled with the Lynch syndrome diagnosis but I do still worry about whether I passed the mutation to my son. There’s a 50/50 chance. I can’t say whether or not my son will have testing, and I certainly won’t push him. But I believe he will be wise enough to make that decision when it’s appropriate for him.*

If he does have testing and if he tests negative, that will give me peace.

* The cancers caused by Lynch syndrome are typically adult onset. The traditional wisdom is that you don’t need to get genetic testing until 10 years before the earliest diagnosis in the family. So unless there’s been colon cancer at age 20 or 25 in a family, there’s no reason to test minor children. They should be given the autonomy to decide for themselves whether they want to be tested or not when they are adults.

Every other month Georgia (@ShewithLynch) works with @MyGeneCounsel and @BRCAresponder to bring together the genetic cancer community on Twitter for a tweetchat with special guest experts. Check them out by following #GENSCM.

Counsyl has provided support to Ihavelynchsyndrome.org, the non-profit organization founded by Georgia Hurst.

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