AILSA CHANG, HOST:
Yesterday we told the story of our public radio colleague Sasa Woodruff, who late last year went through with a complicated decision to completely remove her stomach.
SASA WOODRUFF, BYLINE: You know, once you don't have a stomach, you actually realize that you don't really need one.
CHANG: She had that surgery because a doctor called her in 2019 and said that she had tested positive for a gene mutation that causes a rare, potentially lethal form of stomach cancer. Woodruff hadn't known she was going to be screened for that particular mutation when she first decided to undergo genetic testing. But after several years of investigating it, she's grateful for the information. And 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 Ari Shapiro spoke to two experts who think a lot about this - Nita Farahany, professor of law and philosophy at Duke University, where she focuses on the implications of emerging technologies; and Hank Greely, professor of law and biosciences at Stanford University, where he focuses on ethical, legal and social implications of advances in bioscience.
ARI SHAPIRO, HOST:
Let me first get your reaction to Sasa'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?
NITA FARAHANY: Oh, 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.
HANK GREELY: 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 you have an obligation to go back every five years and recheck the patient's genome to see if there's something new that should be disclosed. That's going to be a tough one.
SHAPIRO: 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 answer or a solution?
FARAHANY: You know, in the kind of short term, what you have a duty 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...
GREELY: 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 a great - in great shape to make a good decision. You're scared. You're nervous.
SHAPIRO: We talked to Sasa 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.
WOODRUFF: 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 my stomach removed? - because it's so drastic. I was so afraid of making a mistake.
SHAPIRO: And so what do you think? Do you think Sasa was right to question, well, maybe in a couple of years this cancer will be more treatable than it is today or at least diagnosable earlier on?
FARAHANY: 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.
GREELY: 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 is a 5% chance instead of a 1% chance of getting a cancer that is relatively treatable, that's a very different kind of situation.
SHAPIRO: 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 health care system attached to it?
FARAHANY: Well, I think direct-to-consumer genetic testing is an 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. And so, you know, you can get a kit that's sent to you at home. You can spit into a tube and send it off. You can get a lot of information back about different predisposition to risk. And I think it promises a way to democratize information and give people direct access to information.
But it also potentially increases the likelihood of genetic literacy as people start to seek to understand what that information means. And that, I think, is exciting. But - you know, but it raises the kind of ethical calculus for many people, such as Hank. I think Hank calls himself a health exceptionalist (ph).
SHAPIRO: Hank, is this the 21st century equivalent of, centuries ago, believing that only priests should have access to books?
GREELY: Or, alternatively, is this 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.
SHAPIRO: There's way more data on the genetic makeup of white people in America than people of color. Is there work being done in the field to make this science more inclusive?
FARAHANY: Yes, there is an effort to try to diversify these populations significantly and to collect data from far more individuals in order to both be able to improve the predictive value but also to see if there are differences by different regions and, you know, kind of different genetic inheritance patterns that may have occurred in different areas of the world.
SHAPIRO: 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?
FARAHANY: 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...
SHAPIRO: I hope I don't.
FARAHANY: 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.
SHAPIRO: Get the life insurance first, then get it sequenced.
FARAHANY: Yeah. I mean, really, like, 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.
SHAPIRO: Hank, what do you think? Should I get my genome sequenced?
GREELY: Yes, I would do it. But for any medical implications, I'd only do it if I knew I had good genetic counseling.
SHAPIRO: Professor Hank Greely of Stanford and Nita Farahany of Duke, thank you both for being with us today.
GREELY: You're welcome.
FARAHANY: Thanks for having me.
(SOUNDBITE OF OSKAR SCHUSTER'S "FJARLAEGUR") Transcript provided by NPR, Copyright NPR.
