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DNA Analysis and Personalized Medicine: A Discussion

Join us for an enlightening conversation with Dr. Ana Maria Barral, a renowned educator and scientist from National University, as we unravel the mysteries of genetic testing and genomic data. With her wealth of experience in cancer biology research and her dedication to science education, Dr. Barral offers a clear and engaging exploration of these complex topics. Listen in as we learn about the long-standing use of genetic testing to identify DNA changes and its applications, particularly for families with a history of genetic conditions. Discover the relatively recent advent of genomic data and its significant role in healthcare and research. We also delve into the practical aspects, discussing how genetic testing is performed and the types of biological samples required for DNA analysis.

As we continue our discussion with Dr. Barral, we explore the role of genetic testing and genomic data in healthcare and medicine. Learn how genetic testing aids in risk assessment and how it has paved the way for personalized medicine, providing vital data to help select the right treatment and dosage for patients. We also uncover how genetic data can help in the treatment of rare diseases. However, as with any advanced technology, genetic testing and genomic data also present ethical and legal challenges. Join us as we navigate the ethical concerns surrounding family members' access to this data, the implications of laws like the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act, and the issue of data de-identification and anonymization. You don't want to miss this insightful and relevant conversation with Dr. Barral!

Show Notes

  • 0:00:11 - Genetic Testing and Genomic Data (56 Seconds)
  • 0:04:03 - Genetic Testing and Genomic Data (168 Seconds)
  • 0:12:02 - Genetic Testing (91 Seconds)
  • 0:15:58 - Tailoring Cancer Treatment Using Genomic Data (51 Seconds)
  • 0:17:57 - Ethical Considerations of Genetic Testing (172 Seconds)
  • 0:27:58 - Genetic Information Privacy and Security (136 Seconds)
  • 0:31:42 - Responsible Handling of Genetic Data (86 Seconds)

0:00:01 - Announcer

You are listening to the National University Podcast.

0:00:10 - Kimberly King

Hello, I'm Kimberly King. Welcome to the National University Podcast, where we offer a holistic approach to student support, well-being and success - the whole human education. We put passion into practice by offering accessible, achievable higher education to lifelong learners. Today we're discussing genetic testing and genomic data. According to a recent article in the European Journal of Human Genetics, population genetic screening for preventable adult-onset hereditary conditions may improve disease management and morbidity, but most individuals will receive an informative result that does not indicate a higher risk for disease. Wow, very interesting some great information coming up on today's show.

On today's episode, we're discussing genetic testing and genomic data, and joining us is National University's Dr. Ana Maria Barral, and. Dr. Barral is an educator and scientist dedicated to demystifying science for diverse audiences, particularly underserved communities. With a PhD in medical cell biology from the University of Linköping, Sweden, and AVSC in biochemistry from the University of Havana, Cuba, her extensive academic journey has included laboratory research focused on cancer biology, both in academic and industry settings, and a pivot to science education, culminating in over a decade of service as a professor at National University. She is the program director of the Associate of Science in Human Biology and coordinator of the non-majors general biology and microbiology courses. Her current research interest focuses on science, education research, particularly course-based undergraduate research, experiences for which she has received a National Science Foundation grant. In 2023, she received a National University Teaching Excellence Award. Wow, congratulations, and we welcome you to the podcast. Dr. Barral, how are you?

0:02:17 - Doctor Ana Maria Barral

Thank you. I'm good and I'm very honored and grateful to be here, and this is a topic that is close to my heart and it's very current these days. There are a lot of questions about genomic data and what happens, so I'm very excited to be here, Thank you.

0:02:35 - Kimberly King

Wow. Well, you are going to be a wealth of information. Thank you for joining us today. I'm humbled. Why don't you fill our audience in a little bit on your mission and your work before we get to today's show topic?

0:02:48 - Doctor Ana Maria Barral

Well, you read my short bio and I have gone through different phases in my professional scientist career. I have been doing bench research in the lab and I have been working for a biotech company. But this was really when I started teaching and I was doing that on the side that I realized that that was my passion. I would be working the whole day at this company and I was so tired and I would arrive to the classroom and I would get so energized and so happy to interact with the students and I would say that I realized soon that science was hard for many, many students, particularly when you look at chemistry and biology and all that and I decided I really wanted to bring that closer to students and make it as exciting as it is for me. So that's why it says my passion now, or my research, focuses on science education. How can you teach science? Or how can students learn science in the way that it should be, which is fun and exciting and interesting?

0:03:57 - Kimberly King

I wish I had you as a science teacher, growing up. So good for you. You understand it and I love your passion. Today we are talking about genetic testing and genomic data and, as you said, it is so relevant. So, Dr., what is genetic testing and genomic data and can you explain the difference?

0:04:14 - Doctor Ana Maria Barral

Yeah, so it's really important to distinguish what are those two, because genetic testing has been used for many years. This is a quiet, common technology which identifies changes in DNA. So DNA is the molecule that has our genetic makeup and genetic information and correlated to risk of developing certain diseases and conditions, and this is used a lot, for example, in a family that maybe there is a history of a certain genetic conditions. The parents or future parents may want to know what's the probability that my children would have this disorder, and I have to say that, for example, when public figures come out, that really increases the awareness of this kind of testing. For example, you may remember, a few years ago, Angelina Jolie came out to explain her decision to have a double mastectomy, because in her family there is this BRCA mutation. A lot of people realized, oh, there is a marker for this type of breast cancer. So, again, genetic testing is quite common and has been done for a long time.

However, genomic data, that's the new gig. So we are referring here to the complete set of genetic information for an individual. So this is more recent and the reason why it has grown so much is because DNA sequencing, which used to be very expensive and very complicated and very time consuming. Now it can happen very quickly, much easier, much quicker and so on. So, and you know, I think I'll be talking more in detail but it can be used for health care purposes, for research purposes. But lately, you know, you have 23andMe and and so on. So this is what's called direct-to-consumer genetic testing, when people kind of you know swab their cheeks and send a sample to you know, figure out what their ancestry is. But there are some companies that are also looking at health risks. So that's kind of the, I think, one of the reasons why people know so much about it, because it has really exploded in the last few years.

0:06:42 - Kimberly King

It is. It's so interesting, and just to see how far we've come, as you said, just even the timing you know that turnaround time it is. How is genetic or genomic testing usually done? You mentioned the swab of the mouth, but that's the way we do it, I guess. Right, how is it done?

0:07:01 - Doctor Ana Maria Barral

Well, you need DNA, and so you need a sample, biological sample, that contains DNA. So that can be blood, you know, can be, you know, swabbing your cheek can be saliva, can be a tissue biopsy, and I'll be talking a bit about cancer treatments in a little bit. So it can basically be anything. And one aspect of this whole genetic genomic testing is law enforcement, forensic usages. So you know, you take that little blood, drop of blood from the carpet and then you find the murderer kind of thing.

So any sample that contains DNA and the good reason of, or the good and one good thing about DNA is very stable. So it can, you know, last quite a long time and you also need a tiny amount of it to be able to, you know, do all these sequencing or testing techniques. So genetic testing per se looks for markers, you know, markers associated with diseases or ancestry and so on. For genomic testing or genomic data, you need to sequence the whole DNA. And that's what I was saying that it's more involved, requires more time and more advanced technologies. But the complexity has really gone down over the last few years.

0:08:30 - Kimberly King

Wow, it's so incredible, science. Who owns the genetic data obtained from these tests?

0:08:38 - Doctor Ana Maria Barral

That's a very, very important question, I so the answer should be that if it's your data, if your DNA, you should own your genetic data. But there are complexities and some of them are legal and others are ethical, and especially if the DNA is collected as part of a research study or the healthcare procedure, there are all kinds of gray areas of the ownership of the data. So I would say that this is an issue that is evolving because the technology advances so fast that the legalities are kind of lagging behind.

0:09:22 - Kimberly King

Yeah, that is definitely one of those questions that you know, I think, before you. I think people should ask you know who owns this and where is this going and who has access to it? Which kind of leads me to my next question. Should family members have access to an individual's genetic test results?

0:09:40 - Doctor Ana Maria Barral

You know, this is very, very personal. So your genetic data will provide clues to a number of things, including predisposition to disease and so on and so on. So do you want to keep this to yourself or do you want to share it with a family member? That's your personal decision. But then there is a second thing if it's a family member, your genetic data may provide clues of your family member's genetic data and therefore their risk, predisposition to disease or other things. So it's really a layered issue and I would say there is no right or wrong answer. That is really a very personal, private decision.

0:10:23 - Kimberly King

So I have a personal question for you until before I get to the next question, and that is I've lost both parents and I have a swab of their hair. One was pancreatic cancer and the other was Alzheimer's and I see a question coming up about that. But what if I have a swab of their hair? Is there a time? Will it time out? How long will that last before I can get that tested?

0:10:50 - Doctor Ana Maria Barral

Well, they find they take DNA from samples of cavemen and bones of millions of years ago. So I would say it should be perfectly fine to extract DNA. Now. I don't know if any company would do it. Maybe 23andMe won't do it, I don't know it but technically, it's absolutely possible.

0:11:12 - Kimberly King

Interesting. So what are some of the common uses of genetic testing in healthcare? So we just talked about cancer, Alzheimer's... Can genetic testing predict the likelihood of developing these diseases?

0:11:26 - Doctor Ana Maria Barral

Yes, and I want to underline the word “likelihood” because sometimes people think, oh, it's in your genes, you're doomed. And that's not the case for a number of reasons. One is because the genes is one thing, you know, nature and nurture. So environment plays an important role of how those genes are actually going to work in your life. And then there are options to take, actions, if you know that there is a predisposition or to a certain disease. So how it is used in healthcare. Again, to look at risk, look at presence of markers or even what we call carrier status, Because, for example, if there is a genetic disorder in your family and you have carriers, the carriers have kids. There increases the likelihood of the children inheriting the disorder. So it can provide, let's say, risk assessment. That would be the word I would use and why I was saying that this is not a definitive doom if the genetic testing shows something.

I want to give you an example of Phenylketonuria or PKU. So this is a disease that is, newborns are tested for a number of genetic disorders. This is one of them and what happens is that if the baby eats a certain amino acid, then that amino acid is not processed properly and it accumulates in the brain and cause intellectual disabilities. So if the test comes back positive, that baby is put on a diet without that amino acid so they can grow up perfectly normal because that process is not happening. So again, a genetic test can provide a lot of information that may have important roles for your health. But there are all kinds of other factors that will determine if this happens or how it happens.

0:13:32 - Kimberly King

This is fascinating. How are genetic data used for scientific research or genomic?

0:13:39 - Doctor Ana Maria Barral

I'm sorry you know that's a long, long list. You know we talked about healthcare and we would. I would talk about personalized medicine later on. But you're basically correlating genetic data, multiple data, because when you have those genomic data you're looking at the whole genetic makeup, person with real life situations, so it can be again diseases, but also responses to therapies and treatment of medication. But all this can is also used in environmental science and culture and even to tracing outbreaks, like how you know there is a burger that causes some kind of E coli outbreak before you need it days in order to culture them in the lab and figuring out where it came from. Now they just do genetic testing and they will find the culprit like in two days. Like it came from that form in wherever place that had a cow that was sick. So it's really amazing how you know diagnostics and public health has changed because of this technology it is.

0:14:50 - Kimberly King

It is so fascinating. I, it's, I really, and I admire you, for you know how you've moved through with all of the sciences and now that you're teaching and again your passion, it's just what a gift. How can genetic testing help in personalized medicine?

0:15:08 - Doctor Ana Maria Barral

So let me give you an example, and this is a very simple example. So you know there is this disease and people and there is this medicine for the disease and there is a dosage. You know you are supposed to take this much of the drug. Well, for some people, because of their genetic makeup, maybe the way they process the drug, that is not enough, maybe their body is clearing out the drug too fast so they are not getting the optimal dose. For other person, maybe it's the opposite they are much slower in processing the medication, so maybe they are having side effects because they are getting too much. So this is one aspect that can help you know, okay, how can we adjust the medication dosage so it's going to be optimal for that patient.

But also to select a treatment, and my favorite example is breast cancer. It's there are many, many types of breast cancer and subtypes and sub-subtypes and different markers, and there are a plethora of treatments for breast cancer. Thank God, it's amazing how many treatments are available. So how you choose the genomic data can say, okay, this patient has a genetic makeup of you know, the cancer and their genetic makeup, as you know, individual that is going to respond best to this, this, this, this treatment. So it's a huge breakthrough in cancer therapy that you know we can tailor make the treatment.

On the flip side of this, there are diseases that are called the rare diseases and they are rare. So what happens is there is not enough research because there are not enough people with those patients, with those diseases. So what happens is that you have a patient with such a rare disease. You look at the genome data and you can say, oh, these markers in this other disease respond well to this drug, so maybe they can apply knowledge from other diseases to treat those patients. So there is actually this whole initiative for rare diseases because they may be rare, they may be very serious and they affect real people to kind of use this information to find treatments for them. Wow.

0:17:46 - Kimberly King

Well, this is such interesting information. What strides we've made. Right now we need to take a quick break. Some more in just a moment. Don't go away. We'll be right back. And now back to our interview with National University's Dr. Ana Maria Barral, and we're discussing genetic testing and genomic data, including the ethics and issues around if family members should have access, and this has been so interesting. Dr. Barral, what are some of the ethical considerations surrounding genetic testing?

0:18:17 - Doctor Ana Maria Barral

Well, there are a lot of ethical and even legal issues around this. So, for example, privacy and security. So who is going to have access to the data? How will be the data be used and how will be the data protected from unauthorized use? And there are laws, and there are laws in the EU and there are laws in the US and the main federal law that governs health status, HIPAA, to the Health Insurance Portability and Health Countability Act, and I looked it up, it's 1996. It's not the newest law there is*.

However, as always, there are exceptions and in the case of genetic data, you can. You know, genetic data or DNA data are basically just letters, A-T-C-G, et cetera, because those are the letters of DNA. So supposedly it's easy to de-identify them. So if you remove, you know, the patient's names or social et cetera, et cetera, and other demographic data, supposedly you can de-identify them and that way they are safe. And HIPAA doesn't require permission to use or disclose health information. If it can be de-identified and there are all kinds of technicalities of how data can be de-identified, they may be safer. And this is very much computer science, data science stuff, which actually we have a computer science data science program, bachelor's and master's at National and we are going to have a bioinformatics concentration next year. Sorry for the plug, I just wanted to mention it that there is a lot of technical aspects to it of how the data are manipulated or not manipulated. There are a lot of details how the data are managed in order to prevent or not to raise data. So this is about federal stuff. You know HIPAA.

However, there are so states different states have additional. You know state laws. So, for example, California, Colorado and Virginia have some stricter privacy laws regarding genetic data and the usage of other states that are working on their own, and I think it's like Florida in New York. Now, when you think about ethical issues. And we were talking about family members before. So I don't know if you remember the case of the Golden State killer, which happened some years ago. So the way they found the murderer was that there is this genetic data you know ancestry data, where people have their genomic data uploaded to look for. You know family members and so on. So they took the database and ran DNA data from the murder scene because they couldn't find matches in the law enforcement databases and they find I think it was like a third cousin or something of that person and that was how they you know they found the person eventually.

And in the case of private companies, you know, like 23andMe and so on, they are not federally funded, they don't have to follow HIPAA, so the rules there are. Whatever those terms and conditions and privacy, you know documentation that they have to read the fine print and that can change. So as of 2021, you know, 23andme and others are stating their privacy policies that they will not provide genetic data to law enforcement unless compelled to do so by a valid legal process, such as a subpoena or search warrant. But again, you know those privacy policies can change. So that's kind of it's different depending on who is collecting the data.

Other aspects is the individual consent to get those data collected and if you have human subject research, there should be what all the informed consent you know have consent or when you sign that you agree to, you know to provide the data. However, and going back to the fact that those data can be supposedly de-identified and anonymized and all that, that process of consent can be either waived or expedited. So it's, there are concerns. I was saying that technology has advanced faster than the legalities of the. You know how this is regulated. So if people have concerns about the genomic data, genetic data and the privacy, you know let's redefine print and you know it can. Those privacy policies can change.

And the other part that is also important is what happens if those data come out. You know what are the implications if there is a condition you didn't want you know to become public and then the data break for hacking, or you know somebody forgot the computer outside and whatever. So there is a law called GINA Genetic Information Non-Discrimination Act that will prohibit genetic-based discrimination in the context of health insurance, of employment. So you know, if you have a predisposition for a certain disease, your insurance may say well, I'm not, you know I'm going to make your premium much higher because you are at the risk. So that act, you know, prohibits that kind of discrimination. But, as always, there are some exceptions. So this doesn't apply to life and long-term disability, so it's mostly for individuals who have no symptoms and then it's for health insurance. There are some other laws that try to fill in the gaps, but it's not completely covered. So that's why the security of the data, of genomic data, is really important. That you know, it stays protected.

And something I wanted to talk before. It's a project called BabySeq or baby sequencing. I mentioned before that newborns get tested for a list of genetic diseases. Well, there was this project that did whole genome sequencing of the babies with the purpose of detecting all kinds of disorders early on, and I think they were like 11 or 13% of the babies had something, some kind of marker for diseases that allowed them to start treatment or detection early on. But that was taken from babies, from newborns. So, yes, the parents consented to it and they were minors, but those babies would grow up. And what happens to their data? Who has the ownership of those data or are those data now forever in the you know some kind of database? So that's also controversial because, yes, we see the short-term advantage of that, that, you know. Maybe we can prevent babies developing something about what about their you know independence and their you know privacy and so on. Yeah, so, as you can see, there's a lot of aspects to these ethical and legal issues regarding genetic data.

0:26:34 - Kimberly King

Is genetic and genomic testing. Is it available for non-medical purposes, such as ancestry or genealogy?

0:26:41 - Doctor Ana Maria Barral

Yes, absolutely so. I think we mentioned kind of the 23 and me and ancestry, but there are all kinds of companies doing this kind of testing. Actually it's funny because they are doing it for pets also. Like I remember sending a poop of my cat, sorry, because there was this study called kitty biome, microbiome or something, and they were trying to you know, correlate, like you had to send information about what the cat was eating and then they would, you know, basically sequence the DNA of the cat and I think even the microbes of the in the digestive system of the cat and then kind of search all kinds of you know correlations with the type of cat and the food of the cat. So it was really interesting. So they are all kinds of, let's say, less scientific usages for this kind of, and that seems like a little bit of a fad.

0:27:45 - Kimberly King

I do hear my neighbors talking about the checking the DNA of their dogs and so interesting Did it say that your cat had nine lives when you found out it is. That's so wow. Is genetic information protected in terms of privacy and data security? I know we've been talking a little bit about this, but is how is that?

0:28:06 - Doctor Ana Maria Barral

I guess yeah, so you know, it basically depends who is collecting the data. So if it's a spot of a healthcare or a research study, there are federal and state laws governing it. If they are private companies, then it's basically whatever the company wants to do. And, as I said, the technology kind of advances faster than the legal aspects and very often scientists will do something because they can, because it's exciting, and then the legal people arrive -

0:28:43 - Kimberly King

Wait a minute.

0:28:44 - Doctor Ana Maria Barral

You didn't think about this and that. Actually there is one aspect that I was going to say before. So let's say that the patient gets tested. Some genetic testing for X issue and when the genetic data are collected it turns out that the patient had markers or something pointing to additional issues, and that has been also controversial, like should we tell the patient and the medical association governing this I think it's a genetic whatever association. Because they said yes, there is this list of disorders and you have to tell the patient, and then you know there was an outrage. Or like, what about patient privacy and patient autonomy and patients rights and so on. So now I think the way it works is say, well, we have some additional data, do you want to hear them? And a patient can say, no, I don't want to learn

0:29:52 - Kimberly King

That is interesting. I had a friend that she actually wrote a book because she did take the APO- I forget what it is for Alzheimer's- and she found out she was 99%- the chance that she was going to get early onset. And it just changed her whole outlook and she said, if I had the chance to do that again I wouldn't want to know. So I know it- So that's interesting that they've kind of changed that too. So what is the role of genetic counseling in the context of genetic testing?

0:30:23 - Doctor Ana Maria Barral

So you know, patient has family, so there is a family history of a genetic disorder, for example. So they want to know okay, do I have that marker, or they're going to have children. What is the risk? And I do want to say that when you do this kind of genetic counseling, what you get is a probability- you know you will get, let's say, 25% probability that your child will have this disorder. And it's like rolling a dice. Every child you roll the dice again. I tell this to my students. You know you have 25% of a sick child and 75% of healthy. And that doesn't mean that we have four kids, three healthy and one sick. No, you may get very lucky and all your children are going to be healthy. Or you may get very unlucky and all the children are going to have the disorder. So the genetic counselor just inform okay, this is the probability, this is the risk. And then the person has to take or the individuals have to take their own, to make their own decisions about it.

0:31:42 - Kimberly King

What steps can individuals take to ensure the responsibility, the responsible handling of their genetic data?

0:31:50 - Doctor Ana Maria Barral

Read the fine text. It’s basically that, and I am very open with my genetic data. I think that's a nerd in me, but I can see that, you know, it can be worrisome sometimes, especially when you think about insurance or employment or law enforcement and all that. So my advice is you know it's your personal decision and if you feel comfortable even if you feel comfortable now think about okay, would I feel comfortable if those data would be out there? Because they can be out there, you know it can be hacked and people can have access to it. And if you're still comfortable with those data being out there, then go ahead. But it's not maybe better to be on the safe side.

0:32:43 - Kimberly King

Good point. Read the fine print. How is the field of genetic testing and genomic data? How is it evolving?

0:32:54 - Doctor Ana Maria Barral

It's evolving at such a quick pace that is hard to follow and you can see different aspects of it right. So you know this whole idea of personalized medicine. It looked like a science fiction thing a while ago and now it's here to stay. Now what people are working on is how can we make it accessible to everybody, how can everybody get this treatment, the best optimized treatment, using this technology, wherever they live, you know, whatever their socioeconomic status is. So there is this big ideas happening. Then there is the technology part, and I was saying the technology part usually helps the big ideas, because the faster, cheaper, easier is to make these technologies to happen, the more people will benefit from it. And, as I was saying, the ethical, legal aspects, those are a bit slower.

0:34:05 - Kimberly King

Does AI blend into the future of genetic testing and genomic testing?

0:34:11 - Doctor Ana Maria Barral

Yes, so AI is a new scary monster and you know it's already changing medical diagnostics. So there is AI interpreting imaging data and AI interpreting other things. Now, in the case of genetic or genomic data, those are basically just code, so it is very much easier for AI to run through it, because it's really just dry data, and I believe that the important part here is to you know, to have an oversight of what AI is doing, especially the ethical part of it. Wow.

0:34:57 - Kimberly King

It is a it's kind of the wild wild west right now, isn't it? As we evolve. Well, this has been fascinating information. Doctor, thank you so much for sharing your knowledge, and if you want more information, you can visit National University's website at, and we thank you so very much for your time today.

0:35:16 - Doctor Ana Maria Barral

Thank you for the opportunity. Appreciate it. Thank you.

0:35:21 - Kimberly King

You've been listening to the National University podcast. For updates on future or past guests, visit us at You can also follow us on social media. Thanks for listening.

*Editor’s note: HIPAA was passed in 1996 and went into effect in 2003, but it has been updated several times since then.

Show Quotables

"Genetic testing per se looks for markers, you know, markers associated with diseases or ancestry and so on. For genomic testing or genomic data, you need to sequence the whole DNA. - Dr. Ana Maria Barral" Click to Tweet
"If it's your data, if it's your DNA, you should own your genetic data. But there are complexities and... there are all kinds of gray areas of the ownership of the data. - Dr. Ana Maria Barral" Click to Tweet