Transcript
Episode 5: Informed Consent & Prenatal Genetic Testing with Blair Stevens MS, CGC
Key topics
Introduction to the history of informed consent [0:00-3:03]
Background on prenatal genetic testing [3:03-5:45]
Introduction to Blair Stevens, CGC and her work at UTHealth Houston [5:45-6:59]
Why did the UTHealth Houston team build a computer module to support genetic counseling? And how does it work? [07:00 - 9:18]
What percentage of patients are using the computer module? And which ones? [9:18- 10:51]
What does meaningful, informed consent really means in the setting of prenatal genetic counseling? [10:52 - 13:07]
With the menu of prenatal genetic testing options ever expanding, how does that change decision making? [13:08-15:57]
How has offering patients a menu of options in prenatal genetic testing affected the experience? [15:57 - 18:08 ]
What are some of the different ways people deal with genetic information when they're trying to expand their families? [18:09 - 19:55]
Do we need to make a larger cultural shift around ideas of genetic difference and disability? [19:55 - 22:23]
Discussion of genetic underpinnings of many common or chronic illness and what those mean for prenatal care [22:24 -:24:12]
What do you see as the future in terms of full genome sequencing and prenatal genetic decision-making? [24:12 - 26:24]
What would it mean for their lives going forward if we start sequencing all people or many people when they are newborns? [26:24 - 30:44]
Discussion of how knowing your genetic health risks could affect your insurability & wrap-up. [30:44 - 33:08]
Transcript
[0:00 - 04:03]
Susanna Smith: Hi everyone. This is Genetic Frontiers. A podcast about the promise, power and perils of genetic information find us wherever podcasts are found and go to geneticfrontiers.org to join the conversation about how genetic discoveries are propelling new personalized medical treatments, but also posing ethical dilemmas and emotional quandaries. I'm your host, Susanna Smith.
Today, we’ll be digging into the concept of informed consent and a bit of the history of how this legal and ethical norm of “informed consent” was created. We’ll turn our attention to genetic screening and testing, particularly during pregnancy, and talk about how informed consent applies in this setting.
It may seem obvious that healthcare professionals should explain recommended treatments to patients, including how the treatment will help or how it might harm a person. This wasn’t always the standard of care in the United States.
A woman named Anna in St. Paul, Minnesota went to a doctor around 1904, complaining of trouble with her right ear. When the doctor examined her, he found a growth in the ear, a punctured ear drum, and diseased bones. He recommended surgery. Once Anna was under anesthesia, the doctor examined her ears again and reversed his initial assessment that the right ear was worse than the left. Without consulting Anna, who was unconscious, he performed surgery on the left ear instead. Anna’s hearing got worse. She sued and won.
Anna’s case is one four cases decided in the early 1900s, in which women, who couldn’t legally vote at the time, sued male surgeons for performing medical procedures without their consent. In response to one of those cases, Justice Benjamin Cardozo, who would later go onto the Supreme Court, wrote:
“Every human being of adult years and sound mind has a right to determine what shall be done with his own body; and a surgeon who performs an operation without his patient's consent commits an assault for which he is liable in damages.”
These cases helped establish the legal precedent for the right to bodily autonomy, meaning patients had the right to decide what happened to their bodies, not their doctors.
Then in the late 1950s a man named Martin in California underwent a medical procedure to determine the extent of a blockage in his heart. The procedure, which was translumbar, involved injecting a contrast agent through his spine. Although Martin had agreed to the procedure, it left him paralyzed, a known if unlikely risk. He sued. A California appellate court found that doctor was liable for failing to disclose information about the risk of paralysis. This ruling was the first to clearly define the concept of informed consent. Not only did patients need to clearly agree to medical procedures, they had a right to information about the potential benefits and risks of the procedures.
Several different medical procedures are used in prenatal genetic screening and testing. Non-invasive prenatal testing (NIPT) and genetic carrier screening are both accomplished with a simple blood draw. Carrier screening identifies whether a person could pass along a recessive, genetic condition to a future child, if both parents are carriers. NIPT screens a fetus for risks of chromosomal differences by analyzing fragments of fetal DNA from a pregnant person’s blood. Prenatal genetic testing, which diagnoses genetic differences in a fetus, is done with either chorionic villus sampling (CVS) or amniocentesis. Both of these procedures involve taking a fetal sample from either the placenta or the amniotic fluid, and they carry a small risk of miscarriage.
Among the benefits of prenatal genetic testing, The American College of Obstetricians and Gynecologists (ACOG) mentions that:
If the results are normal, it can reassure patients.
In some cases, if a condition is identified prenatally, there may be effective treatment, either before or after birth.
For babies with potential health concerns, knowing can help doctors and parents plan for appropriate care during the delivery and after birth.
Prenatal testing can also inform choices about whether to continue or terminate a pregnancy.
There are risks of prenatal screening testing, too. Discussions of these risks often fall back on ideas about potential, bodily harm like the risk of miscarriage. Beyond bodily harm, how do we understand the benefits and risks of receiving—or refusing—genetic information about yourself, your partner, or a pregnancy?
Until fairly recently, only a small proportion of pregnant women were advised to seek prenatal genetic screening and testing, namely those from particular ethnic groups considered to be at higher risk of certain genetic conditions; older women; or those with known genetic risk factors. The American College of Obstetricians and Gynecologists changed its approach starting in 2016, recommending that all pregnant people should be offered genetic screening and testing, including a broader panel of carrier screening tests. These changes reflect the growing medical consensus that genetic risks and conditions are common in the general population, including being a carrier for conditions like cystic fibrosis or spinal muscular atrophy.
In a past episode, which you can find linked in the show notes below, I discussed my own feelings of overwhelm and decision paralysis when considering prenatal carrier screening for a long list of conditions, which I largely didn’t understand. The number of genetic tests is growing exponentially. What does informed consent really mean in the arena of genetic screening and testing?
To help unpack some of this question, I’m talking today with Blair Stevens, a board-certified genetic counselor with over 15 years of experience in reproductive genetics. She is an associate professor and the Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston. Blair specializes in helping families understand and adjust to unexpected prenatal diagnoses and counseling families with fetal anomalies identified on ultrasound. Over her career, Blair has worked with many different types of patients from New York City to Texas, including people who want as much genetic information as they can get and those who have little interest in—and sometimes understanding about—genetic risks, screening, and testing.
I became interested in Blair's work because she is part of a team that has launched a computer module to reach more patients with genetic counseling information.
And this approach piqued my interest in how computer modules might be able to help people make decisions in line with their values when they are weighing complex choices like genetic testing for hundreds of conditions. The UT Health Houston model isn't being used this way yet, but it's a possible future direction for the field. Welcome to genetic frontiers, Blair, and thank you for joining me.
Blair Stevens: Thank you for having me.
[07:00 - 9:18]
Susanna Smith: I want to start with the computer module, UTHealth Houston developed to support genetic counseling. Why did the team build this module? And how does it work?
Blair Stevens: So we built this module in response to increasing interest and demand for genetic testing during pregnancy and a quickly increasing patient volume in our UT practice. And so, as you mentioned, all pregnant patients should be offered carrier screening and NIPT. And this is a huge burden for obstetricians to be able to find the time to discuss some of the nuances of genetic testing and to keep up with the very quickly changing landscape of genetic testing options.
Prior to our module,we really encouraged all patients interested in genetic testing to meet with a genetic counselor because we do have a large group at ut. But it quickly became a barrier, you know, not everyone has the time and ability to meet with a genetic counselor and not everyone really needs to. And so we created this alternate option, particularly for lower-risk pregnancies where there's not a lot of need for personalized risk information because of a family history or because of a particular concern. And so this is an option that we provided where instead of meeting with a genetic counselor or spending time out of an OB appointment where there's so many other things to focus on that patients could get a link to an online program that provides information about genetic testing options and also provide many questions that can help us triage who really should see a genetic counselor versus who would be okay with just learning information from an online program.
And so the way that it works is that when patients go in to see their OB/GYN to confirm their pregnancy, the OB does a little bit of triaging themselves to make sure that an online module would be appropriate for a patient, meaning they don't have any significant family history; they don't have a language barrier because the the module currently is only in English.
And for those that really fit that kind of low risk path, they send through our electronic medical record system an order that prompts the invitation to be sent. Whereas those who really would benefit from speaking with a genetic counselor, they get an order to schedule a genetic counseling appointment.
[9:18 - 10:51]
Susanna Smith: So what percentage would you of your patients are using the computer module?
Blair Stevens: We have made some changes. For example in the beginning we requested that all patients who are 35 years or older because of an increased risk for chromosome conditions be sent to a genetic counselor, And we did find that, you know, there are plenty of patients over 35 that really didn't need to sit down and have a thorough conversation about their, you know, less than 1% chance for Down Syndrome, for example, in a 35 year-old.
So we modified it so that we incorporated a risk assessment question in the module by asking how old the person would be at the time of delivery and providing that risk number. So it has shifted. But I would say, the majority of patients that we see go down the module arm. But interestingly, we do offer the option of genetic counseling to anyone that responds yes, to a family history concern, even if it's something that's, you know, not traditionally super high risk. Like I have a, you know, a cousin with autism that might not be something that puts the pregnancy at super high risk for something. But we put it out there. Let the patient decide if they would like to have an appointment with a genetic counselor if they clicked, yes, on anything. We also offer genetic counseling to anyone that states that they have a high level of concern for a genetic condition if it's the first time they're being offered prenatal testing because it's just such a steep learning curve. If it's your first pregnancy especially. And so of all of the patients that get offered genetic counseling, almost half of them express interest in an appointment. So there are a good number of patients that go down that module pathway, but then elect genetic counseling.
[10:52 - 13:07]
Susanna Smith: So let's talk a little bit about informed consent. When a patient is pregnant and they go in for carrier screening, they're often presented with a really long list of genetic conditions like I was. What do you think meaningful, informed consent really means when you're trying to make that many decisions?
Blair Stevens: I think that's a really challenging question, because I think it means different things for different people, and it's really hard to have one mode of ensuring everyone feels like they have made an informed decision when you're meeting someone, you know face-to-face or via telemedicine. And you can really understand that patient's needs and values and wants through targeted questions and responding to patients, you know, nonverbal cues it allows for like a really rich discussion. We're very confident that we're making informed decisions with our patients and that the patients are making informed decisions after getting information from us.
Our challenge with the online module is, how do we ensure those people without a face-to-face conversation are making informed decisions? All I can say is that we did do some research on this subject, and there is a validated measure that assesses informed decision making. And what we found is that despite knowledge scores being lower in the patients that did our online module compared to a traditional genetic counseling visit, the satisfaction in perceived, informed decision-making responses were high in both groups. The online module takers and the genetic counseling patients were both in excess of 90%.
So as long as patients have the opportunity to learn more about genetic testing and feel like they're making an autonomous decision. So it's up to them whether and which test to undergo. It feels like people are feeling in control and that they are satisfied with their decisions, even if maybe their knowledge isn't as high as maybe we expected, or they think that it should be so.
I think that's a bias of medical professionals is that you have to be very educated about something to make an informed decision. Especially with lower health literacy levels and much of the population the education might not be as necessary compared to just feeling like I've been given the opportunity to learn more. I feel like I've learned enough, and I feel able to make an autonomous decision.
[13:08-15:57]
Susanna Smith: So I want to press that a little bit because I talked about this in an earlier episode, the idea of sitting with the menu of options, the 200 things you might be screened for in carrier screening when you're pregnant or considering becoming pregnant. And I just looked at that list. And I thought, Well, what happens when this list is 500 or 1,000 or 2,000 conditions, and the options for genetic testing or carrier screening just can exceed the capacity of the human mind. Even a trained professional's mind to hold all that information in their brain at once. Right? Because there's just so many conditions.
So what do you see as the path forward? Because when you're trying to make seven decisions, it's a completely different way of decision making than if it's like, well, we have 2,000 conditions, choose what you want to be tested for.
Blair Stevens: You're absolutely right. It does get increasingly complex as that menu of options expands, and it gets to a point where you can no longer say I want this particular condition, or that particular condition to be tested, for it becomes more of a do you want to know what condition you might carry and that number of conditions. You know, we haven't even discovered every gene that I'm sure people carry variance in.
And so we've really shifted how we counsel patients about testing from, “Here are the things that we can look for. Do you want it to?” to “Here is the possibility of finding a genetic condition.” This is what the implications of that genetic conditions could be and kind of give a spectrum, some are mild, some have treatment, some don't. Some are severe and life limiting, and there's everything in between. And it's becoming increasingly challenging to say, if you only want to look for this type. We'll do this test.
So you kind of have to just take that leap that you want the information or you don't. And it's really impossible to feel like you've made an informed decision about each particular condition. If you think about it, I'm not sure that expectation is realistic because take the anatomy ultrasound, for example, where genetic testing is completely optional, so you can decline it or undergo genetic testing, you know, everyone gets an anatomy ultrasound. Because if there's a birth defect or something it might change, you know where you deliver how we manage the pregnancy. If everyone before they got a 20-week anatomy ultrasound were sat down by the OB/GYN and were told here's the list of abnormalities we can find on your baby in this ultrasound from head to toe. Here are all the uncertain things because there's certain times we find variants on an ultrasound that we're not sure if they're anything to worry about or not. That would be a completely overwhelming process. And ultimately I think it would make it really really hard for patients to even enjoy that ultrasound. And so like I said, we've kind of shifted from do you want to know about these conditions to do you want to know about this general type of information. And here's a spectrum of what that information might mean for your pregnancy.
[15:57 - 18:08 ]
Susanna Smith: Do you think that part of what has happened with genetic counseling and testing around this is that labs have been inserted as almost a direct-to-consumer product? Because it's up to the patient to select from that menu of options. You aren't offered a menu of options, as you pointed out when you're given an anatomy ultrasound.
Blair Stevens: So I do think that the labs and the marketing and the competition has been an issue. For example, there was a point in time when expanded carrier screening was really ramping up. It felt like the marketing that at least I was hearing from the OB/GYNS that I would talk to would be like our panel has more and more equals better. So you should use our company versus another company.
But more isn't necessarily better with genetic testing because sometimes the clinical utility, or what you would do with those additional genes that have been added to a panel, are minimal. Or maybe the more aspect, maybe a higher detection rate also comes with more uncertain findings that are hard to explain to patients. Once you kind of put that more out in the ether it's kind of like Pandora's box where it's sometimes hard to put back in.
And so I do think that the labs have used marketing in ways that have been unhelpful to expanded carrier screening. But I feel like we're kind of now in a swing back towards that's really focus on what's meaningful. And some of that marketing and competition has died off a little bit. And we're learned a lot over the years with doing these big large panels.
And furthermore, there's been a little bit more guidance from professional guidelines on what these expanded carrier screening panels should and should not include. But that continues to be a challenge as well because not all of the guidelines agree with each other so expanded carrier screening is challenging in many ways. But because it is more nuanced. And there's a lot more to cover. That's why we decided with our UTHealth module that if you're interested in expanded carrier screening that we set you up with an appointment to see a genetic counselor. Because it's just not something that's easily covered in a way that all people can understand with a module
Susanna Smith: That makes sense.
[18:09 - 19:55]
Susanna Smith: So can you talk about the different ways people deal with genetic information when they're trying to expand their families?
Blair Stevens: : Yeah, I think it definitely varies. There are some people that seek out genetic carrier screening before they get pregnant because they want to minimize their chances of having a pregnancy with a genetic condition so much so that they would consider alternative ways of getting pregnant like in vitro fertilization or adoption or gamete donation. Other folks and the majority of patients that I see are not presented with the idea of genetic testing until they're pregnant. Or maybe they don't have insurance until they're pregnant. And so they are presented with most of these options in their first trimester. And some patients really just are doing it because they are seeking reassurance. They're not expecting that there's anything going on with their pregnancy in terms of a health concern but they would like as much reassurance as they can get. Whereas other folks they want the information because they would maybe alter their pregnancy management. And so I think everyone has a different agenda and a different need for information. But I will say that most people are expecting reassurance out of results. And so what you would do with the information if you get an abnormal or an atypical result also varies. A lot of times it's really impossible to know what you would do until you're in those shoes. And so that's why we really stress the importance of post-test counseling in our institution. That's all done by a genetic counselor to really ensure that patients understand what the results mean, what the results don't mean, what limitations or uncertainty still exist, what follow-up testing is recommended, and then ultimately, if there is something confirmed what that means for their pregnancy. That takes a lot of tailoring and a lot of genetic counselor to patient interaction to help ensure that we're getting patients what they need.
[19:55 - 22:23]
Susanna Smith: So to this point of most people expect genetic testing to be reassuring during pregnancy. It is true that many people will have uncomplicated pregnancies but I also think the more we do genetic testing and the more we do genomic screening, we will find people carry genetic differences. In fact, they could be really prevalent. So do you view that as a larger cultural shift we need to make around the idea of what is genetic difference, and often something we call disability, but it's actually much more widespread than people want to think about it?
Blair Stevens: Definitely. So I think you bring up a couple of really important points. One, when we're talking about carrier screening so people who are carriers of genetic conditions typically don't have any symptoms or health concerns because of their carrier status. We only become worried about the pregnancy if both parents are carriers of the same condition for recessive conditions. So I think it's really important to emphasize in the pretest setting that if you undergo carrier screening, it is not a shock, and it is not a concern if you come back as a carrier. If we tested everyone for everything, everyone would come back as a carrier for probably a few different recessive genetic disorders and so normalizing that. So people don't think that there's anything concerning about their carrier status. It puts us in a position where we can then say, “Do you and your partner carry the same condition?” And that's where the potential health concern risk comes from. So I think we do need to normalize that.
In terms of the other part of your question, I do think that genetic variation and disability is more common than people realize. If you've been personally affected with it or a family member has been personally affected with it I think it's a very real probability for you. But many people don't know someone personally that has had a rare condition. So overall rare conditions are individually uncommon but collectively, not as uncommon as we think but, generally speaking, prenatal testing is focused on some of the more childhood focused disorders. So we don't typically test for adult onset conditions. So the scope of prenatal testing is usually skewed to those select disorders. But I do think that it would be beneficial for families to understand that these genetic conditions can and do happen. And even if they're not in your family, it doesn't mean that there's not a place for testing. Because oftentimes the diagnoses that I deliver to families are completely unexpected. And people, I think, just make the assumption that if they're healthy and their family’s healthy, that those things don't happen to them.
[22:24 -24:11]
Susanna Smith: Yeah. And I think increasingly, what they're finding is that genetic difference associated with chronic conditions or things that are not rare, like breast cancer or any number of things those are often carried from birth. And then that's this huge ethical gray area of you know. When should you find that out, or should you find it out?
I think there needs to be a larger shift towards what is genetic difference and the reality that even if you don't carry a genetic difference that puts you at high risk for a rare disease, you likely carry some sort of genetic variant that puts you at risk for a chronic or common condition. Right? We all carry those. Probably we just don't know what they are. Absolutely, increasingly, we're finding out.
Blair Stevens: We definitely steer clear of those in the prenatal setting because of our lack of understanding. So the things that most people have heard of and might have concern of such as autism or epilepsy or diabetes all of these things certainly have a genetic component to their cause, much of the time, but it's a what we call multifactorial combination of factors that lead to them. So it's usually not just one gene, but a small effect of many genes plus an environmental aspect to the cause. And so those are really, really challenging to even identify. But once we've identified them to counsel patients about because I might have genetic variant and never manifested that condition. Whereas someone else might manifest the condition due to a different variant that we don't test for. And so those more complex multifactorial interactions are ones that we really just aren't smart enough to be offering testing for in the prenatal setting.
And there are some laboratories that offer what we call polygenic risk scores where they can look at a number of genes to predict the likelihood of developing a condition so that is being used in other areas of care but not in the prenatal setting.
[24:12 - 26:24]
Susanna Smith: I wanted to ask you a little bit about what you see in the future. Given how cheaply now and how quickly full genome sequencing can be done, many people are predicting that full genome sequencing will replace genetic testing. What do you see as the future in terms of prenatal genetic decision-making?
Blair Stevens: It feels inevitable. We are already doing genome sequencing in critically ill newborns. There's no formal recommendation for it. We are certainly doing prenatal diagnostic testing, using exome and genome sequencing. And if we have cell free DNA from a pregnancy or even intact fetal cells in the bloodstream of the pregnant person that allows for the opportunity to do more in-depth sequencing tests on a pregnancy with a blood sample rather than an invasive test.
On one hand, there's a lot of great things that will come from that with early detection and hopefully better management, and eventually many genetic treatments that can be performed prenatally. But, like you're saying, there's a lot of things to be concerned about given that there are many places in this country that are deserts for genetic care. And there are pregnant people that aren't even being offered cystic fibrosis screening, which has been a recommendation for a very long time. And so I think we need to get creative using technology we have in our center to make sure that there's pretest education and information and access to genetic counseling for patients that are undergoing these more advanced screening and diagnostic tests.
But we also need to make sure that there's access to those genetic tests in the first place, there's a long way to go to avoid the inequities that we're currently seeing in routine carrier screening and routine aneuploidy screening before I think we're ready to introduce some of these more advanced sequencing technologies into prenatal care routinely. So I think we're a long ways off but there's a lot to learn. There's a lot to be done to fill those voids.
Susanna Smith: Yeah, I agree. I think there are huge leaps to be made both in genetic literacy at a population level for everyone, and then also just accessibility for all patients to be able to access this care if they want it.
[26:24 - 30:43]
Susanna Smith: I want to explore a little bit more about full genome sequencing because this has been piloted, I think, in at least four different hospitals, doing full genome sequencing among newborns for various reasons. One of which was as a test, a comparison test to metabolic screening. As you know, there's a lot of newborn screenings that happen. People are looking at whether it would make more sense to do full genome sequencing on all newborns versus do newborn screening for particular conditions. So if you could just tell me a little bit about your thoughts about that. And then what does it mean if we start sequencing all people or many people when they are newborns? What does that mean for their lives going forward?
Blair Stevens: So there's a lot of thought on this. And I've had a lot of discussions about, you know, there's sequencing data that could be valuable at many different time points. So in the newborn period if there are any treatable genetic conditions, we absolutely want to know about those because we can intervene and improve outcomes. While some genetic conditions there's a lot of wonderful things that come with that identity, for example, people with Down Syndrome don't want their Down Syndrome to go away. They love who they are, and they love what their Down Syndrome is and their identity.
But someone that has PKU [phenylketonuria] and if you told them yes, you can eat whatever you want tomorrow if you just take this medicine, most people would say, yes, give me the medicine. So I think it's first of all important to state that genetic conditions are not universally bad. There's a lot of wonderful diverse, you know, rich life experiences that come because of genetic conditions. But some of the medical aspects of some of these genetic conditions are truly devastating or difficult to manage or expensive to manage. So as we're identifying things that are treatable that can take away some of those medical issues that people certainly don't equate with their identity, I think that's a no brainer. But down the road we do expanded carrier screening most of the time in our institution after you're already pregnant, which is not ideal. Ideally, we would do that before you're pregnant.
So it'd be nice to have that same sequencing data that we got on that newborn available to that person once they hit reproductive age to say, hey, by the way, you're a carrier of XY and Z, FYI. So that way when you meet someone that you want to have a baby with you guys will know if you're a carrier couple. Or hey, now that you're in adult years, you have this cancer predisposition gene or this cardiac-related gene. So that way, we know how often and at what age you should start getting screening mammograms or at what age you should start certain medications to reduce your disease risk for these adult onset conditions. So I think sequencing someone from birth and having that information throughout their lifetime there's obvious value in hopefully minimizing health risks and poor outcomes in the future.
Blair Stevens: But what makes it so difficult is that we can't just search for the actionable, straightforward, black and white genetic variants that we are familiar with. Or if we do look for just those things, we're going to miss a lot because our knowledge is evolving literally by the day. And so if we want to test for as much as possible, we're going to get the uncertain things. And now your life is full of like this uncertain fate that may or may not pan out. Or we can test for just the known things and miss a lot. And unfortunately, given a lot of history and a lot of racism in our history, there's not as much information about genetic variants for underrepresented populations. So people from you know, marginalized communities are going to be the ones that we miss things on if we only look for the known things. And if we look for as many things as possible, they're also going to be the populations that have more uncertain results because we haven't characterized their genetic information as well as we have people from like European descent. So I think it's a great opportunity to start thinking about these questions and figuring out how to make this information valuable to as many people as possible. And I like your newborn screening analogy because it's regulated, it's something that we discuss. We have ways of incorporating new conditions or incorporating new processes. And it's something that we have the RUSP [recommended uniform screening panel]. So we have a set list of things that the states need to incorporate or should be incorporating into their newborn screen. So it's going to need a lot of regulation and oversight to make sure that we have access and equity.
[30:44 - 33:08]
Susanna Smith: Yeah. And then it runs into all these issues of life insurance and long-term care insurance, which you know I've written about. But if you grow up knowing all your known health risks within your genome, well, how do you even apply for life insurance? I mean, what, just how do you handle those things clinically. There might be a lot of benefits. But in terms of how you go forward socially, emotionally. Some of the financial pieces, I think, are big question marks.
Blair Stevens: And on the flip side, if I've done my genetic testing and I've modified my screening or my lifestyle or etc, shouldn't I have cheaper life insurance? Or shouldn't you be willing to insure me more because I am more prepared? And I'm avoiding or I'm catching things earlier. I think it can be viewed on both sides of that coin. So I'm not sure what life insurance companies are going to be doing with this information. Which is why we warn people that hey, this is something that you are not federally protected against discrimination for when it comes to long-term care and life insurance.
Susanna Smith: Yeah, it's great that you do. I think not enough institutions are doing that systematically.
So to clarify that point for our listeners. The Genetic Information and Nondiscrimination Act, known as GINA is a federal law that protects people from discrimination because of genetic differences in employment and health insurance. These protections do not extend to life insurance, long-term care insurance or disability insurance. Now, some states have passed additional protections in these areas, but many have not and triagecancer.org has a great list of up-to-date state laws around genetic information and insurance on their website, which we link to in the show notes below. And I've also talked about my personal experiences with this issue on the Health Affairs podcast in an episode called “Keeping Quiet About Genetic Risk,” which is also linked below so check those out if you want to learn more.
Susanna Smith: Thank you, Blair, for joining me today on Genetic Frontiers.
Susanna Smith: Genetic Frontiers is co-produced by Brandy Mello and by me: Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein. Thank you for listening to this episode of Genetic Frontiers connect with us at geneticfrontiers.org or on Instagram and Linkedin at Genetic Frontiers, to continue the conversation. If you enjoyed this episode and would like to support our independent production. Please make a donation to Genetic Frontiers through our Patreon account.