Consider This from NPR - Genetic Testing: Is It Better Not To Know?

Episode Date: May 13, 2022

Sasa Woodruff loves food—she's been accused of having far too many cookbooks. But in 2019, a phone call from an unknown caller changed her relationship to eating. A genetic counselor called to tell her that she had a rare genetic mutation which could lead to a lethal form of stomach cancer.The only way to prevent that cancer was to get her stomach surgically removed. While she's now grateful for the information that genetic testing gave her, Woodruff's story raises questions about what kind of information patients should have and how they can use it. Professor of law and philosophy at Duke University, Nita Farahany and professor of law and biosciences at Stanford University, Hank Greely discuss the implications of growing access to genetic testing and how to weigh health decisions. In participating regions, you'll also hear a local news segment to help you make sense of what's going on in your community. Email us at [e-mail] Consider This from NPR sponsors and promo codes.Learn more about sponsor message choices: podcastchoices.com/adchoicesNPR Privacy Policy

This message comes from Indiana University. Indiana University performs breakthrough research every year, making discoveries that improve human health, combat climate change, and move society forward. More at iu.edu forward. If you could glimpse the future and learn you were going to get sick, that you could die from an illness, would you want to know? That became a real choice for Sasha Woodruff. I think I didn't want to know any of this. You see, Woodruff's family has a relentless history of cancer. So both of my maternal grandparents died of cancer. My great-grandmother had a double

mastectomy for breast cancer. My mom had breast cancer when I was in elementary school. So it felt like it was all around me. So she got genetic tests twice for two different mutations that were common in her family. One can lead to breast cancer and another for a mutation that can cause colorectal cancer. Both tests came back negative. It was this really joyous moment because I thought, oh my god, I don't have to worry about this cancer anymore. And then that was that. But then, years later, Woodruff was at work, and she got a phone call from a number she didn't

recognize. He said, I'm Dr. Richard Frieder. I'm the medical director at Tillagen Cancer Genetics, and I have some new information for you. I have this report. He told her that thanks to new research, scientists could now tell she did have a different genetic mutation called CDH1, and it could lead to lethal stomach cancer. I was shaking and just really flustered because I really wanted this to be a spam phone call, but it wasn't. Woodruff went to a genetic counselor immediately who told her the only way to prevent this cancer was to get her stomach removed. I felt like you were standing on the ledge waiting to get hit by a cancer that you had no idea was going to happen. And I had to do something to try to save you.

I just had to do it. That is Dr. Frieder talking to Woodruff last year just before her surgery. Contrary to what you might think, I was calling you with what I thought was good news. Because it wasn't a destiny, it was an opportunity. An opportunity to save your life. Woodruff, who is a public radio journalist, spent years investigating the CDH1 mutation before making the difficult decision to get her stomach removed last October. Now she's glad she had the information to make that decision.

You know, once you don't have a stomach, you actually realize that you don't really need one. Consider this. Genetic testing is becoming cheaper and more widely available, but the information it reveals can lead to life-changing decisions. And not all bioethicists agree on how much information patients should have and how they should get it. Information can be more powerful and more damaging than a scalpel. From NPR, I'm Mary Louise Kelly. It's Friday, May 13th. This message comes from WISE,

the app for doing things in other currencies. Send, spend, or receive money internationally and always get the real-time mid-market exchange rate with no hidden fees. Download the WISE app today or visit wise.com. T's and C's apply. It's Consider This from NPR. Sasha Woodruff loves food. She loves her mom's Slovakian dishes, beef, celery root, and potato. Also, baking her own confections like berry tarts with pastry cream,

or brewing jalapeno soda. She has been accused of having too many cookbooks. But when she suddenly found out she had a dangerous genetic mutation, CDH1, that could lead to lethal stomach cancer, everything changed. A genetic counselor told her the only way to prevent that cancer was to get her stomach removed. I figured I would do more research and kind of prove that my genetic counselor was wrong. Because I think you have like these images of not being able to eat, maybe having a feeding tube, you know, and then I thought, do you want to live such a compromised life for something I love so much? I love food. And so you do question whether that's a life worth living. It's been a little over six months since Woodruff got her stomach removed. She spoke to my colleague Ari Shapiro about what it took to make that decision

and what she's learned along the way. What's life for you been like lately since your gastrectomy? How have you been feeling? How have you been eating? You know, I'm actually surprised at how well I've been doing. I actually was back to pretty normal foods about a month after surgery. For the most part, I eat whatever I want. Sugar is difficult because instead of it breaking down in the stomach, it hits your bloodstream immediately. So I've been avoiding sugar, but I've been pretty much eating everything that I want. Of course, in small amounts. There's a really weird sensation where I feel hungry, but I'm full so I can't eat. So it's really hard to explain. And I don't think anyone who still has a stomach won't understand it. And so without a stomach, how does your digestive system actually work now?

So once they took out my stomach, they actually attached my esophagus to my small intestine. So basically that kind of fermenting pot that is your stomach that has the acids that breaks your food down, that is gone. And so it goes straight from the esophagus into the small intestines. And actually, most digestion happens in the small intestines. It's just a little bit broken down. So you do have to chew more and eat slower. But digestion happens pretty normally. It's kind of amazing that we don't need a stomach. Did you resent the doctor for giving you this news about a test that you had

not explicitly asked for? Yeah, I mean, I think I didn't necessarily even want to know if I had the breast cancer gene. So I think I didn't want to know any of this. And, you know, as much cancer as we had, I think you can go into the, this couldn't happen to me. I will be the exception. You kind of talked to the doctor about that, right? I did. A few months before I had my surgery, I decided to go back and interview Dr. Richard Frieder. And I just, I wanted to know, like, what is going through a doctor's head when they are delivering this kind of news? There are bad news moments in our lives as doctors.

Contrary to what you might think, I was calling you with what I thought was good news. Because it wasn't a destiny, it was an opportunity. An opportunity to save your life. This was such a revelation to me because it completely switched how I perceived this phone call. Because, you know, when you think about it, there's a big range of my chances for getting stomach cancer. It goes from probably like somewhere in the 40s to 80%. So to think that I went from having an up to 80% chance of getting a cancer that they really have no good way of diagnosing before it's spread and is terminal to 0% chance, like I'm really

thankful for that now. I mean, but it does take a lot of psychological work to get to that point. So is the testing that led you down this path becoming more widely available? Is this something that more people are going to have opportunities to do if they want to? Yes. And, you know, obviously, I think there are ethics of testing everyone, you know, do you want everyone to know every little gene mutation they have that could potentially become something, you know, I think this is the curse and the blessing of being at the forefront of technology, which I really am, you know, they could come back and figure out a way to fix this. But at this point,

this is what's available. And so I asked Frieder this question. And I said, you know, how would you advise someone in your family? Or if you had this, would you do it? And he told me that if his daughter had this gene, that he would absolutely have her have the surgery and have it done as soon as possible. It's a hard decision, but it's the right decision to make based on what we know. And if in 20 years, we look back and say, gee, it didn't really need to be done. So be it. You know, one of the things I was afraid of is what if in two years they find something where they can actually monitor for this so I won't have to have it. And I think he helped clear it up that, OK, so maybe we will find a cure or a better way to deal with this.

But that's OK. Like, you made this decision and you'll live with it and your life will be okay. Now, looking back, Sasha Woodruff is glad she made the call that she did. But as genetic testing becomes cheaper and more accessible, Woodruff's story raises questions about how much information patients should have and how they should receive it. My co-host, Dari Shapiro, also spoke with two experts who think a lot about this. Nita Farahani,

professor of law and philosophy at Duke University, where she focuses on the implications of emerging technologies, and Hank Greeley, professor of law and biosciences at Stanford University, where he focuses on ethical, legal, and social implications of advances in bioscience. Let me first get your reaction to Sasha's story, and especially the fact that she was contacted without knowing she had given consent to be informed about a genetic mutation that she did not even know she was being tested for. What do you make of this? Oh, there's so much. There's so much to make of it, right? I mean, so first, you know, I think it's not probably that unusual in the coming days of what we can expect from

genetic testing. And because what we know about genetics is changing all the time, it's not that surprising that there'd be some additional discovery as part of her original sequencing that she didn't anticipate she was being tested for. I think what's surprising is that somebody actually kept up with it and thought to actually contact her. That's the part that I think is the most surprising. And it's different, I think, when you're in a clinical context. Her family history of cancer is incredible. It's amazingly bad. And so in her particular case, if I were her, I certainly would have wanted my doctors to be on the lookout for any kind of cancer connection in my genome. And do you have

an obligation to go back every five years and recheck the patient's genome to see if there's something new that shouldn't be disclosed? That's going to be a tough one. This is an instance of a doctor saying, you have this gene, so you need to do that. But I could imagine grayer areas. How do you balance the need to keep people informed and the desire to give them good information with the psychological burden of knowing something that might not have a clear to disclose is more limited to those things that are actionable, not necessarily things that are far off into the future. There's a question of like, should you and do you, and some people would want to know, I for one would want to know, even if it was iffy, and even if it was equivocal, here's where Hank and I probably disagree about. I think people are very bad at making health decisions. I think most people know very little about genetics. They need help in order to make sense of this. And you know, if it's a health issue, you're peculiarly not likely to be in great shape to make a good decision. You're scared, you're nervous.

We talked to Sasha about how she weighed the information that she might get cancer against the certainty that her life would change if she had the procedure. Here's what she told us. You know, one of the things I was afraid of is what if in two years they find something where they can actually monitor for this so I won't have to have it, my stomach removed, because it's so drastic. I was so afraid of making a mistake. And so what do you think? Yeah, I think it's not an obvious and easy choice for anyone, but I think the right answer is that they have the full information available to them to actually decide whether or not they want to take a preventive or precautionary approach. And for her, she made the right decision.

And it's all going to depend on both the medical circumstances and the personal circumstances. If there's an 80% chance of getting a cancer that is very, very hard to treat and very likely to kill you, that's one thing. If there's a 5% chance instead of a 1% chance of getting a cancer that is relatively treatable, that's a very different kind of situation. There's also a booming market of genetic tests that are marketed straight to consumer. How does the ethical analysis of that differ from what we're talking about here that comes through an insurance company with all of the healthcare system attached to it? exciting field because it gives people direct access to information about themselves and does so more cheaply and in a more easily accessible way than going through a physician's office. But it raises the kind of ethical calculus for many people, such as Hank. I think Hank calls himself a health exceptionalist. Hank, is this the 21st century equivalent of centuries ago, believing that only priests should have access to books? Or alternatively, is this the 21st century equivalent of centuries ago believing that only priests should have access to books?

Or alternatively, is this the equivalent of saying only licensed physicians should be able to write prescriptions or only licensed surgeons should be able to perform operations? Information can be more powerful and more damaging than a scalpel. If we can reliably predict that many people will not be able to use the information well, not because they're lacking in intelligence, but because they don't have the background, or because they're not in a good emotional state to try to evaluate everything, then I think requiring that there be resources available to them to help guide them through that decision is every bit as sensible as limiting prescriptions to physicians. So let me ask, just taking host's privilege here, I'm a relatively healthy person without

huge warning signs in my family history. I've got good insurance. Should I get my genome sequenced? Do I think you should do it? Yes, I do, if you're curious about your genome. I don't think that you're going to learn anything earth-shattering about your likelihood of future diseases. You may find... I hope I don't. Well, you probably won't. I mean, family history is in general, pretty informative. You know, one thing that I caution some people about is neither your employer nor your health insurance can make choices about you or discriminate or change those insurance decisions or your employment decisions based

on genetic information. But that doesn't mean, for example, that life insurance couldn't make those decisions based on genetic information. Get the life insurance first, then get it sequenced. Yeah. I mean, really, get your life insurance first and then go ahead and do it if you're interested in doing so. But I do think it can be valuable to make sure you have all of your ducks in a row before you undertake genetic testing. Hank, what do you think? Should I get my genome sequenced? Yes, I would do it. But for any medical implications, I'd only do it if I knew I had good genetic counseling. Professor Hank Greeley of Stanford and Nita Farahani of Duke, thank you both for being with us today. You're welcome. Thanks for having me.

Earlier in this episode, you heard reporting from Sasha Woodruff. She's the news director at Boise State Public Radio. You're listening to Consider This. From NPR, I'm Mary Louise Kelly.