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How do genetic tests work, and why are there tests to assess your risk of some diseases but not others? Genetic counselor Allison Schreiber brings you up to date on what these tests can and can’t do, why they’re important and how a genetic counselor can help.

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An Introduction to Genetic Testing with Allison Schreiber

Podcast Transcript

Nada Youssef:   Hi, thank you for joining us. I'm your host, Nada Youssef, and you're listening to Health Essentials Podcast by Cleveland Clinic. Today, we're broadcasting from Cleveland Clinic main campus here in Cleveland, Ohio, and we're here with Allison Schreiber. Allison is a Genetic Counselor here at the Cleveland Clinic Genomic Medicine Institute, and today we're talking about genomics. Very happy to have you.

A. Schreiber:      Thank you for having me.

Nada Youssef:   Sure thing. And please remember, this is for informational purposes only, it's not intended to replace your own physician's advice. So before we start on the serious stuff, I'm going to ask you some fun questions to get to know you better.

A. Schreiber:      Okay.

Nada Youssef:   So first of all, favorite thing to do when you're not working.

A. Schreiber:      Mostly spending time with my family. I have a 12-year-old daughter, and my husband, so we do a lot of outdoor activities, biking and hiking and things like that.

Nada Youssef:   Perfect. It's coming right around the corner, hiking.

A. Schreiber:      Yes, we need the weather to get better, though.

Nada Youssef:   Yes. All right, what about your favorite food?

A. Schreiber:      Anything chocolate.

Nada Youssef:   Anything chocolate?

A. Schreiber:      Absolutely, anything chocolate.

Nada Youssef:   Or covered in chocolate.

A. Schreiber:      Yes.

Nada Youssef:   If you weren't in medicine today, what would you be doing?

A. Schreiber:      Oh, that's a hard one. I've always wanted to work in healthcare. I think if I didn't do genetics, I probably would end up in a different area of healthcare.

Nada Youssef:   In medicine.

A. Schreiber:      Medicine, helping people, and the science of it has always been really interesting to me.

Nada Youssef:   Good, excellent. All right, well let's get into the genomics, some serious stuff. All human beings are 99.9% identical in their genetic makeup. Differences in the remaining .1% hold important clues about the causes of diseases, but it's also what makes us unique from one another, providing us with traits like eye, hair color, even our height. These differences also contribute to medical conditions. Gaining a better understanding of the interactions between genes and the environment by means of genomics is helping researchers and clinicians find better ways to improve health and prevent diseases.

So let's just start with a very general question: what is genomics?

A. Schreiber:      To understand genomics, you have to understand a little bit about the difference between genetics and genomics. Genetics is the historical term for the studying of the way that a gene causes a disease, or is related to a trait. Genomics is a broader picture where you're looking at more than one thing at a time. It's looking at the genome, or all of an organism's genes at the same time. Anything that's related to genomic testing, for example, is often looking at a group of genes or a large number of genes, and trying to understand the interactions between them.

Nada Youssef:   So genetics is more granular, then, and genomics is the full picture?

A. Schreiber:      Exactly, exactly.

Nada Youssef:   Okay, great. So what are the different types of tests that you do for these genomic or genetic testing?

A. Schreiber:      There's actually lots of different kinds of genetic tests, and it really depends on the reason that somebody is having testing. There's testing that looks at the chromosomes, which are the structures that contain the genes, to see if there's any missing or extra pieces of genetic material. There are tests that look at individual genes if we have a suspicion of something really specific. And then there's genomic testing that looks at a large number of genes all at once to see if we can identify any abnormalities.

Nada Youssef:   So that's like looking at human prints, DNA. How accurate is that?

A. Schreiber:      It's a very accurate technology. If we are looking for the right thing, if we know what we're looking for, the test is very accurate. Where the sensitivity and specificity of genetic testing comes in is that the testing can identify a mutation or an abnormality if it is in the gene you are testing for. But depending on what you're testing for, the knowledge about the genes that cause that condition may not be complete. So sometimes we can do a genetic test and it may not come back with an abnormality because there's a lot about the genes that cause that condition that is not known yet.

Nada Youssef:   Wow, sounds very complicated.

A. Schreiber:      It is very complicated.

Nada Youssef:   So how are these tests done? Are they blood work, what are they?

A. Schreiber:      Most genetic tests are done on blood samples. They look at the white blood cells that are circulating in the blood. As testing has become more sensitive, and we can identify abnormalities using smaller quantities of DNA, we also are sometimes able to use a cheek swab or saliva samples, which is really more convenient for patients sometimes if it's difficult for them to get to a lab or we need to test multiple family members.

Sometimes having a kit sent to their home where they can collect a saliva sample is a little bit more convenient, depending on the situation. And then sometimes there are tests that we use, urine, or skin biopsies, or other things. But that's pretty uncommon, that's pretty specific for certain things.

Nada Youssef:   I see. So are these instantaneous, or it kind of depends on is it blood versus saliva? With the test results coming back, are they pretty fast?

A. Schreiber:      It depends. Some tests take between a few days and a week, some tests take up to a couple of months. Depending on what kind of test it is, and how much information we're trying to get from it, sometimes the test itself doesn't take very long, but the interpretation of the results will take a long time. Those are the kinds of tests that might take two or three months.

Nada Youssef:   Sure, sure. Now, are these expensive tests, and are they covered by insurance?

A. Schreiber:      That's a very good question, and one that we are asked often. And I think there's a lot of misunderstanding about that, I think that people come into genetics thinking that this is going to be a very expensive enterprise and that their insurance doesn't cover genetic testing. Most genetic testing is covered by insurance, and the cost varies, again, depending on which kind of test we're doing. I think the least expensive range is somewhere around a couple hundred dollars up to several thousand dollars.

But the biggest thing is that when somebody's referred to see somebody in genetics, potentially for genetic testing, we help with all of that. It's not something that you need to come into the visit knowing whether your insurance covers testing, or what the costs are going to be. We help do the insurance authorizations and work with the insurances, do the appeals if we need to.

And the other piece of that question that I think gets confused sometimes is that when a person is referred for an appointment in genetics, the appointment and the test are two different things. Whether insurance covers the visit versus covers the test, they're two different kinds of codes that get billed to the insurance company. Sometimes people will not be sure whether their insurance will cover the visit, which oftentimes it does but not always, and then it's the same kind of question for the test itself.

Nada Youssef:   That's a very good point, the actual testing is different costs than the actual visit. And then you also mentioned, if you do come to Cleveland Clinic to see a genetic counselor, you can work with a financial counselor, financial advisor, to find out what the testing will cost before you go get it done.

A. Schreiber:      Exactly. Most of the time we can't give that information before the visit because we don't know what kind of test we need to order. So, as part of the visit, we go through the history and figure out which kind of test is most appropriate, and then we can help determine insurance coverage and cost from that point.

Nada Youssef:   Okay, great. Now, let's talk about why genomics, or genetic testing, is very important for our health.

A. Schreiber:      There's a lot of genetic contribution to different diseases. For common diseases, for example for things like heart disease, and diabetes, and cancer, we know that genetics contributes a lot to those conditions, but there are environmental influences as well. And then there are conditions that have a very strong genetic link to them, so that's the area that I primarily focus on, is some of the more rare diseases that have a strong genetic component. But we see patients for all different kinds of reasons.

Nada Youssef:   So can environmental factors change or cause a genetic disease?

A. Schreiber:      Environmental factors can't cause genetic disease. Let me give you an example. For cancer, for example, there are ... Cancer is common, and some cancers are more common than others, but there are some rare forms of cancer that are really caused by an abnormality in your genetics. If you have a family history of breast cancer or colon cancer, for example, you can be given a risk of the chance that you'll develop the same kind of cancer. But if the family member who had cancer had a specific genetic mutation that caused their cancer, then your risk would be much higher than that.

So that's a lot of times what we do in genetics, is figure out if you do have one of these really high-risk versions of the condition. And the things that we use to help determine that are things like the age of onset of disease. If somebody has colon cancer in their 80s, that's less likely to be a strong genetic component than somebody who has colon cancer in their 30s or 40s.

Nada Youssef:   Sure, sure. So is there a genetic testing for most diseases, or all?

A. Schreiber:      I would say not yet. Because there are a lot of factors, and even for some of the conditions that we have talked about, like heart disease for example, there are so many different genes that play a role in heart disease that being able to test and give somebody a very specific risk factor at this point in time is not quite there. But there are some rare forms of heart disease that we can do genetic testing for.

Nada Youssef:   And that's actually what I would like to talk about. Diseases such as cancer, diabetes, cardiovascular diseases constitute the majority of health problems in the U.S. How does genomics play a role in preventing or treating those diseases specifically?

A. Schreiber:      Kind of going back to the cancer question, if we know that you have a genetic risk factor for cancer, we can't make that risk factor go away, but we know that there are screening guidelines that would change based on that risk. So if you know that you have a genetic risk for colon cancer, for example, you would start getting colonoscopies at much younger ages. Or if you have one of the genetic risk factors for breast cancer, you would start mammograms at an early age.

And sometimes there's even the recommendation for surgery to prevent the onset of certain kinds of cancers. If you have one of these genetic risk factors, you may have your breasts or your ovaries or your uterus removed to help eliminate those risks.

Nada Youssef:   So it's working on really prevention more than anything, which is excellent.

A. Schreiber:      Right, exactly.

Nada Youssef:   That's good. So what are some of the new genetic or genomic techniques and technologies that we see today?

A. Schreiber:      Some of the newer technologies that we see, this comes back to our initial conversation about genomics. Historically, and I've been in this field for a long time, the kinds of tests that we used to be able to do were looking at one gene at a time, and we would say, “Well, you don't have this gene, let's look at this next gene,” and it would take a really long time to get through all of that and become pretty expensive.

The kinds of tests we can do now are looking at genomics, it's looking at a lot of genes at one time. So that's the technology that we're starting to use more clinically over the last five or six years. We call it whole exome sequencing, so looking at the exons of the genes, the coding regions of the genes, all of them of all of the genes at the same time.

And we use that primarily in patients who have complicated medical histories, where we think that most likely there's a genetic cause for their medical problems but we haven't been able to really pinpoint it. So we can use the technology of exome, or even now starting to talk about genome sequencing, to look at a lot of information at once.

Nada Youssef:   So when you're looking at genomics, you're looking at the big picture, versus looking at genetics, just individuals. Is there help with AI to look at the patterns of the coding? How do you find out if something's abnormal?

A. Schreiber:      I don't actually work in the lab that does those tests, so the actual technology of how they get to the result is not something that I have personal comfort with. But what happens is they use a computer system along with lab technology to sequence, or spell out, all of the genes to see if there are abnormalities.

Now, what gets tricky about this kind of testing is that none of us are the same. So when you sequence out all of your genes, you're going to find differences between people. So knowing which of those differences are actually medically important, or cause a problem, versus which are benign or normal variations, that's where the people need to be involved. We rely on the lab technicians and lab leaders to know which of those variants are important and which ones are probably not.

Nada Youssef:   All right, great. So how does someone get to go see a genetic counselor? Is it a referral by a specialist or a doctor?

A. Schreiber:      Generally, yes. Usually it's the primary care doctor or specialist that recognizes the need for a genetics appointment and then places a referral for that. We get referrals from all different ... Probably every institute at the Cleveland Clinic makes referrals to genetics. So, within our Genomic Medicine Institute, there are four main divisions of genetics.

There's cancer genetics, that's some of what we've described already; there's cardiovascular genetics; there is prenatal, focusing on pregnant women and issues going on with their pregnancies; and then there's what we call general, which kind of fits everything else. But that encompasses mostly pediatrics, as well as neurology and those kinds of conditions.

So when somebody is referred to genetics, usually it's for something that falls into one of those categories, and then they would be scheduled with an appropriate provider.

Nada Youssef:   So that's very interesting with the prenatal, it's not just mom who's pregnant, you're actually also checking on the baby's genes?

A. Schreiber:      Right, right. So if there's something going on with the pregnancy, if there's a finding on an ultrasound for example, then a genetic counselor would meet with the family, the couple, and talk about potentially doing testing on the pregnancy through amniocentesis or something like that.

Nada Youssef:   Sure, so what does that look like, a genetic counseling session? Is it you sit down, you talk through family history before you get into the lab and blood results? How does that look?

A. Schreiber:      The session involves taking a lot of history. If the person themself is affected with symptoms, then we would go through their medical history, talk about other providers that they've seen, other kinds of evaluations that they've had, imaging studies, things like that. And then we would go through a detailed family history, we take what we call a pedigree, or a family tree, where we draw out three generations of the family. It generally involves siblings, children, parents, aunts, uncles, grandparents.

And we'll ask questions about things related to their health, do they have medical problems, if they're deceased, what did they die from, how old were they. So sometimes the information that the patient is given before they come, we'll ask them to collect some of that information beforehand. Because some people don't have that much detail about their family history. So we'll go through, we'll discuss the conditions that are in their family history to help decide how likely is it that there is a genetic condition going on, and then to help determine the appropriate testing.

The other thing is that some patients who are referred, especially if they're coming for a cardiovascular or a general reason, will meet, in addition to a genetic counselor, they'll also meet with a clinical geneticist, who's one of our physicians who specialize in genetic conditions. The difference between a genetic counselor and a geneticist is that geneticists are physicians, so they can do physical exams and make certain kinds of medical recommendations and order different kinds of tests if there are additional evaluations that are needed besides just the genetic testing.

Nada Youssef:   But not everybody gets to see that physician, correct? It's only if needed.

A. Schreiber:      Only if needed, right.

Nada Youssef:   So how do I know if I need to see a genetic counselor, or is that only the doctor's call at that point?

A. Schreiber:      Most of the time it's coming from a doctor, but a lot of times a patient initiates it. If they recognize there might be something going on in their family, for example, or have a concern, they'll often go to their primary care doctor or specialist and bring that up and say, “I'm concerned about this,” and then the doctor will make a referral to genetics. And then other times it's really the provider who says, “I think that there's something genetic that might be causing your problems, I want you to meet with somebody to talk about that.”

Nada Youssef:   So it could be either/or.

A. Schreiber:      Exactly.

Nada Youssef:   Now, if the genetic testing results are positive, how high is the risk of getting that disease? I know we talked about prevention and different screenings, but how accurate is ... I know you said also that it's pretty accurate, but if it tells me that I have a genetic disposition to getting diabetes, how likely am I to get diabetes?

A. Schreiber:      That's a good question, and it depends on the condition. There are some conditions where, if you have the abnormal gene, you 100% will get the condition, you can't do anything about it.

Nada Youssef:   Wow.

A. Schreiber:      And so that would be for something like Huntington's disease, or certain kinds of muscular dystrophies, or cystic fibrosis, or sickle cell, the things where the gene is the cause of the condition. Whereas there are other conditions where it's more of a risk factor. These are the things like cancer, for example, where if you have one of the genetic risk factors, your chance of developing cancer is much higher than the general population, up to 60 or 80% if you don't do any prevention, but it's still not 100%. And then there are other genetic risk factors that are on the lower end, where we say this gene seems to contribute to the disease and increase the risk somewhat, but it doesn't directly cause it.

Nada Youssef:   So it's unique per disease.

A. Schreiber:      Exactly, and that's part of what we try to explain to families. Also, the thing we always say in genetics is whenever we see a patient, we're not just seeing that person, we're also seeing their family.

Nada Youssef:   The whole family tree.

A. Schreiber:      Exactly, because when we do a genetic test on a person, we can find an abnormality that doesn't just affect them. Now we're worried about their children, or their siblings, and we have to trace that back. And oftentimes we will see other family members in follow-up and help figure out what kind of testing they need and discuss with them any of the complications related to that.

Nada Youssef:   So, as I was preparing for this conversation, I came across the GINA, Genetic Information Nondiscrimination Act. Can we talk about what that is, and why is it put in place?

A. Schreiber:      Sure, and this is a question that a lot of patients have. It's related to insurance discrimination. If you were found to have a genetic risk for something, can I lose my insurance? That's usually the big question, or will my rates go up?

The Genetic Information Nondiscrimination Act, or GINA, was passed a little over 10 years ago I think, and it was to address this question specifically. It's a federal law that prevents medical insurers from raising your rates or dropping your coverage based on genetic test results. It also prevents people from employment discrimination based on genetic testing.

The details of this are that the law does not prevent people from discrimination related to life insurance or long-term care or disability insurance. Different states have other laws related to that, but that's not covered by this specifically.

The other thing is that it's really just related to genetic test results, especially those kind of predictive results where you may not have symptoms of something yet, but you're trying to figure out your risks. Once you have a condition, if you already have cancer, then GINA doesn't really cover you anymore, you fall into some of the other laws related to preexisting conditions.

Nada Youssef:   All right. Now, I want to talk a little bit about genomics, or genetic testing, and medicine. Is it called pharmacogenomics? Let's talk about what that is.

A. Schreiber:      Sure. Pharmacogenomics is a relatively new area of medicine. The idea is that there are genes that are involved in the way your body processes medications, and we've known for a long time that certain people handle certain medications better than other people, or need different dosing. So pharmacogenomics is the study or practice of figuring out why that is, and are there ways that we can figure that out before we start giving medications?

There's actually a pharmacogenetics specialist in our team, Dr. Jennifer Hockings, who sees patients, she's a pharmacist that has special training in pharmacogenomics. She will review people's medications, they often come to see her if they're having a hard time finding medications that work for them, and then there are tests that can help figure out, based on your genetic makeup, which medications might be better for you, which dosing might be recommended.

Now, this is not something that is universal for all medications. The best data that we have are for certain subcategories of medications, things like anticoagulants, people that have blood clotting risks, or certain categories of medications related to behavioral health, or epilepsy and ADHD, things like that.

Nada Youssef:   So it's very customized per patient.

A. Schreiber:      Right, it really depends on what kind of medication you're needing, and then she can provide some recommendations there.

Nada Youssef:   Great. So once testing is done, and a better-tailored drug therapy is found for the patient's individual needs, what then is the next step? Does the pharmacist work with the physicians to modify their medications?

A. Schreiber:      She will make recommendations back to the prescribing provider, usually whichever doctor is prescribing the medications, she'll help them know what direction to take with that.

Nada Youssef:   That's amazing, that's great that it's covered every field.

A. Schreiber:      Yes.

Nada Youssef:   So, clearly genetics remain just one of several factors that contribute to people's risk of developing most common diseases. Diet, lifestyle, and environmental exposures that we talked about also come into play for many of these conditions, including many types of cancer. What do you think is the future of genomics, what do you think that looks like?

A. Schreiber:      I think there's a lot that's going to be happening in the next five to 10 years in genomics. I've been practicing for over 15 years, and what I've seen happen we couldn't even have imagined it, it's so different. So it sometimes is kind of hard to imagine what the next 10 or 15 years are going to look like.

But based on some of the research studies that people are doing around the country, I think some of the new things that are going to be happening more often are disease-specific or gene-specific treatments. There are some of the rare conditions that we're starting to have treatments for that we didn't use to, things like spinal muscular atrophy or cystic fibrosis, that you can tailor a treatment on a specific genetic mutation. Which is really exciting for some of these rare conditions.

The other thing that is probably going to start to happen a little bit more, because there are some places that are already doing this on a research basis, is what we call population-based genetic screening.

Nada Youssef:   Which is what?

A. Schreiber:      What we've talked about so far has been genetic testing based on a person's medical history or their family history. Population-based screening is testing that's done just on regular, healthy people. There are a couple of places that are kind of looking into this, either on healthy adults, or even potentially on newborns.

Right now in the state of Ohio, as well as every other state, newborn babies are tested based on a blood spot. If you ever noticed that babies get their heel pricked.

Nada Youssef:   Yes.

A. Schreiber:      They do a little blood spot screen, and they look for some rare genetic conditions. The reason they do that is because the conditions they're testing for have specific prevention that you can do. If you know that a child has phenylketonuria, PKU, they don't have symptoms until they're much older, but if you start changing their diet at the time that they're babies, then they won't develop the symptoms.

So that's the kind of screening that's already been being done for decades. But now that our genetic testing technology has gotten to the point where we can do so much more with it, they're starting to look at, "Should we be testing more people for other kinds of conditions?"

Nada Youssef:   So the population testing that you're mentioning, it's not really to compare with abnormal genetics to find out what is abnormal, what is normal, but it's more again just prevention from newborn with their heels pricked.

A. Schreiber:      Right. And there are other places that are doing it on adults to see how common really are some of these genetic mutations, and are there other things we need to do for risk prevention. But there are some ethical questions related to all of that too, as you can imagine. There's the balance of things that can be useful for prevention purposes versus are these things that people would actually want to know about their children or about themselves.

Especially when we get to the things ... We talked about there are some things where there are prevention options, but there are some conditions where we can't do anything to prevent the disease. So, if that's the case, how useful is that information?

What I know from my experience working with patients is that, when they have a high genetic risk for something like Huntington's disease, which is a progressive neurological disorder, not everybody wants to know. If they have a parent with it, sometimes they decide not to get testing, because they'd rather live with the possibility that they don't have it rather than know for sure that they do.

Nada Youssef:   I'm sure mentally it takes a toll on you, knowing that from the get-go.

A. Schreiber:      Exactly.

Nada Youssef:   So I want to talk about something that's happening now. In recent years, direct-to-consumer genetic testing companies have begun offering tests for ancestry as well as variants that contribute to disease. You can do this in the privacy of your own home. But should we? Is it a good idea?

A. Schreiber:      That's a very good question. There are several of these companies out there now that offer anything from ancestry testing to testing for health risks. I'm not an expert in each of the individual companies, but I know that there are a few out there. The ones that are giving information about health risks, there are some concerns about what they're actually providing.

And most of what they say on their websites does give a lot of caveats, but I think that many of the people that go through the tests don't really recognize the limitations of the testing. There has been some research looking at the actual accuracy of the tests, there was a paper that was published within the last year or two that actually questioned the accuracy of what they were getting, they weren't able to replicate the results in a different lab.

But more important to me is the way that the results are interpreted. What they're generally doing is testing for a very small number of genetic risk factors for a condition, where what we know is that there are many, many genetic risk factors for the condition. And so a person can interpret it to mean that they are at high risk or at low risk where that may not actually be the case.

Nada Youssef:   There could be more to it, that's why testing would be done in a lab.

A. Schreiber:      Exactly. For example, one of the companies offers a test for Parkinson's disease. What they're testing for are two mutations that can be associated with Parkinson's disease. What we know is that there are hundreds of different mutations that can give you a risk for Parkinson's disease, but they're not testing for all of them. We also know that most people who have Parkinson's disease don't have a genetic cause of it at all.

So if you do that test and it comes back with an abnormality, that might tell you that you are at increased risk for Parkinson's, but coming back with a normal result doesn't really change your risk at all. And so that part is really confusing for people.

Nada Youssef:   Right, so use it for ancestry, don't worry about the disease part, come to the [crosstalk 00:29:23]. So, before sending in your DNA, what kinds of questions would you say are important to ask?

A. Schreiber:      I would say really read the fine print of what is it that they're testing for and what kinds of information are you really going to get. Because I think a lot of times it's really confusing. And then the other thing that has come about from some of these companies that give you the option to link your genetics with other people in their database is people are learning things about their families that they didn't expect to learn, even things like their father isn't their father, or they have other half-siblings out there. Nobody thinks that's going to happen to them, but it certainly does quite a bit.

Nada Youssef:   Sure. And now I want to talk about some things that were in the news recently. End of last year, we heard the news that a researcher in China claimed that he has created the world's first gene-edited designer babies, so he modified the genes in the embryos to give them resistance to HIV. What does the future ...

Again, I know you're not the expert in that, but you know a lot of this topic ... What does the future of gene editing look like from your perspective, and do you think we can edit genes in an embryo to lower risks for diseases for future babies? Is that feasible with maybe more technology to come?

A. Schreiber:      Right, and as you said, this is not an area that I'm a super expert in. But the CRISPR technology is this really exciting new technology that allows for very specific gene editing, being able to actually erase a mutation in a gene. Most of the studies that have been done on it so far have been in animal models, but the headline that you're discussing about the researcher in China who kind of went around the scientific community and decided to move forward with testing in humans, and specifically in embryos.

There's some very exciting research that's currently being done on humans now, but it's focusing primarily on people with diseases, so certain kinds of blood disorders, sickle cell, or beta thalassemia, people with certain kinds of cancers, where they're seeing whether this gene editing technology will help with their symptoms.

The difficulty of what happened in China is that he ... The difference between doing this kind of technology in somebody who has a disease versus doing it in an embryo is that when you're doing gene editing in a person, you're potentially changing their genetic makeup, but it's not affecting future generations, it's only affecting that person.

When you do gene editing in an embryo, that changes the genetic makeup of all of the cells of that baby. That includes their future sperm and egg cells, which then can impact future generations. And that's something that we were not even close to being ready-

Nada Youssef:   That's kind of terrifying.

A. Schreiber:      Right. So the scientific community was appalled that this moved forward without any kind of oversight.

Nada Youssef:   Yeah, it sounds like it could raise some ethical concerns, and I guess it's subjective, but-

A. Schreiber:      But yeah, it is a technology that there's a lot of promise about, and people are really excited about. But there's a ton that still needs to be done because we don't really know what it will do, or how it will affect people.

Nada Youssef:   It's an embryo, you have no idea, we'll have to wait a long time. And just an update on that, since this genetic baby news broke last year, the U.K. and the U.S., among other countries, have already banned experimental gene editing in human childs. That's very reassuring.

And then with CRISPR, you mentioned this technique is being used on DNA for individual patients that have a gene malfunction or something that they have. So, can editing DNA go wrong? Is it feasible that unintended change can cause something else to happen?

A. Schreiber:      It certainly seems like that's possible, and that's what we still need to learn a lot about. What's different about the CRISPR technology compared to other kinds of gene therapies that were tried in the past is that it's a lot more specific, it can really target something without potentially affecting as much of the surrounding genes. But we still don't entirely know what will happen as we move forward with the studies.

Nada Youssef:   Yeah, and hopefully in the upcoming years technology helps us make this safer and helps patients and not change any upcoming populations. Actually that's it, we're running out of time. But is there anything else that you wanted to add that we haven't talked about? Have we covered everything?

A. Schreiber:      Yeah, I think we covered most everything. I guess what I would tell people to do is learn about their family histories. Even though we have a lot of technology at our fingertips to do different kinds of testing, sometimes our best thing to learn about somebody's risk for disease is still based on their family history.

There are some people who don't have that kind of relationship with their family members to know about their relatives' health, but anything that people can learn can sometimes make a really big difference. And then if they do have something that's of concern to them, to bring it up with their doctor and potentially come and see somebody that has expertise in genetics to see if it's something that could make a difference for them.

Nada Youssef:   That's great, and let me ask you one last question. If I want to do a genetic test with a counselor versus a kit that I do online, can I do that without a referral? Can I go to a genetic counselor on call, or do I need to have some kind of abnormality to do that?

A. Schreiber:      At the Cleveland Clinic, we do require a referral, but it can be for anything. Even if you just have a concern, your doctor can make a referral.

Nada Youssef:   Okay, great. Thank you so much, it's been a pleasure having you today.

A. Schreiber:      Sure, thanks so much.

Nada Youssef:   Thank you, and thanks again for all of our listeners who joined us today, we hope you enjoyed this podcast. If you would like to schedule an appointment with a Cleveland Clinic genetic counselor, please call 216-636-1768, but remember, Allison said we need a referral or a concern before doing that. And to listen to more of our Health Essentials Podcast from our Cleveland Clinic experts, make sure you go to clevelandclinic.org/hepodcast, or you can subscribe on iTunes. And for more health tips, new, and information from Cleveland Clinic, make sure you're following us on Facebook, Twitter, Snapchat, and Instagram @clevelandclinic, just one word. Thank you again for listening.

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Health Essentials

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