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How Genetics Is Helping Patients with Rare Diseases

What is a geneticist? How can they help families on a "diagnostic odyssey" finally put a name to their rare disease or condition?

Dr. Anna Hurst explains how whole genome sequencing  can ultimately lead to customized treatment plans for patients. She also breaks down the difference between genetic testing advertised to consumers, versus testing provided by board-certified physicians at a renowned healthcare institution.
How Genetics Is Helping Patients with Rare Diseases
Featured Speaker:
Anna C.E. Hurst, MD, MS, FACMG
Anna C. E. Hurst, MD, MS, FACMG, is an assistant professor of medical genetics and pediatrician in the Department of Genetics at the University of Alabama at Birmingham (UAB). She received her master’s degree in genetic counseling at the University of South Carolina (Columbia) and her medical degree from the Medical University of South Carolina (Charleston). She is board-certified in pediatrics (Wake Forest Baptist Medical Center, Winston-Salem, NC) and medical genetics (University of Alabama at Birmingham).

Dr. Hurst is a clinician for the UAB Undiagnosed Disease Program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama. She leads the Children’s of Alabama Genome Sequencing (COAGS) research study and is an investigator with the Alabama Genomic Health Initiative and SouthSeq research genome projects. Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. She is also the associate program director of the UAB Genetics Residency Program and Medical Director of the UAB Genetic Counseling Training Program.

Tiffany Kaczorowski: Welcome to Inside Pediatrics, a podcast brought to you by Children's Hospital of Alabama in Birmingham. I'm Tiffany Kaczorowski and today we're talking about genetics, genomic sequencing, and how they're related to rare diseases. Dr. Anna Hurst is with us today and she's an Assistant Professor of Medical Genetics and a Pediatrician in the Department of Genetics at UAB, the University of Alabama at Birmingham. She's a clinician for the UAB undiagnosed disease program, Turner Syndrome Clinic, and General Genetics Clinic, and she provides hospital consultations for inpatients at UAB and Children's of Alabama. Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. So welcome Dr. Hurst.

Dr. Hurst: Thank you for having me.

Host: So let's talk a little bit about what a geneticist is and what you do as a geneticist.

Dr. Hurst: So a geneticist is a medical doctor who has specialized training in conditions that can be inherited or can run in families. Some of these can be conditions that affect all different types of organ systems or different parts of the body. And we specifically look at clues or features that present in the patient's medical history or physical exam. To try to help make a diagnosis. And we also can help with managing symptoms or features of that condition after a diagnosis is found. We can then help with family members who might want to know what are the chances of that disorder or condition running in their family or other people.

Host: Sure, sure. So would you say that you guys are not necessarily the first doctor that a patient would see?

Dr. Hurst: Correct.

Host: Probably the second or third.

Dr. Hurst: Right. Usually another doctor, whether that's a primary care physician or a subspecialist has noticed there's something different about that individual's health or development that might make a genetic condition more likely.

Host: And then tell me about you. What drew you to genetics and to get into this field?

Dr. Hurst: So I had always loved genetics as a concept and as a topic in high school. But when I was in college, I took a class called genetics and human affairs, and we learned about different conditions that affect people physically, but also how it affects their family. And realizing that you could think about genetics as it relates to a person really fascinated me. So I actually got a Master's degree in a field called genetic counseling. Worked very closely with genetic counselors in our clinics and as a genetic counselor I learned how to communicate information about genetics to families. And through that I realized I really liked the process of making a diagnosis and helping individuals once you had a diagnosis, improve their healthcare and take better care of their own health and being more proactive with that information. So decided to go to medical school and be a geneticist with further training.

Host: I would imagine, it is very rewarding because you see patients and families who don't necessarily have a diagnosis, they don't know what type of condition this is. And then you guys are able to research that and through some testing figure that out.

Dr. Hurst: Yeah. So many of our patients come to us looking for further clarification or answers. There may be on what we call a diagnostic Odyssey where they've been looking for some type of answer or just validation that what they're experiencing maybe has a uniting name to it. And being able to provide that clarification is very helpful and it's also great seeing the ways that that can benefit their healthcare, where they can get more personalized individual management based on knowing what the underlying cause of their symptoms really is.

Host: From the time you got out of medical school until now, I'm sure you've seen some huge advancements in genomic testing and the types of things that can be done to try to find that diagnosis. Can you describe a little bit about that?

Dr. Hurst: Sure, so several years ago we were able to look at cells under microscopes and thinking about things at a chromosome level, but as genetic testing has gotten more and more advanced, we can really focus in on smaller pieces of DNA and even reading individual letters of DNA to look for answers for health conditions. And when we first were doing that, even 10 or 15 years ago, we would look gene by gene and read maybe one or a few genes at a time. But now there's new testing available called exome and genome sequencing where we can simultaneously look at almost every gene in the body at once, to be able to take a more comprehensive approach. And that type of testing just wasn't available in the past and now it's more time efficient, it's more cost efficient, and it helps people get answers quicker than before.

Host: And what does that do to a family once they find out or can match a name or a condition that has been discovered already with the symptoms that their child is having?

Dr. Hurst: So it depends, every family has a different reaction. And so we're very careful in the clinic to try to approach each family where they're at because sometimes that information is very overwhelming. Other times it's really empowering. And so we try to help the family with where they are in their journey and how that information is affecting them. And oftentimes when they're able to see the benefit, it becomes a very empowering experience because they can put a name to what they're experiencing. They might feel very validated that they have an answer and then can go forward with planning medical care that's more targeted and tailored to their specific needs. And our ultimate goal is that once you know a name of a condition, then you can start to find treatments and know how to best approach the condition.

Host: Sure they're not just on the medical side but then also on the support side. I would imagine that families, once they have a diagnosis, they can search out there and find out if other patient families are going through the same thing. If other people are, you know, experiencing the same diagnosis and that may be able to help them to get some support and just to be able to talk to someone else who has the same condition.

Dr. Hurst: Absolutely. That's something we really try to empower our families with in the clinic. When we find a diagnosis, one of the first things we do is look for national foundations or support groups, people that we can put our families in touch with. We often look for other parent organizations and I tell my families that those parent organizations can be so important because other parents know things that they don't teach us in medical school. They can give you great tips and advice and especially for rare diseases or things that are very new. The parents in the support groups might know more about a condition then has even been put in the medical literature or published yet. So I always tell my families, if you hear anything in those support groups that you think might help your child's journey, let us know. We can work together to filter that information, see if it applies to your child and can we best connect you to other resources.

Host: Absolutely. And speaking of the genetic testing and doing some genetic sequencing, Children's has sponsored a genomic sequencing project. Tell us about that. You're the lead investigator on that.

Dr. Hurst: Yeah, so for the past year and a half, we've been really fortunate to have support of Mr. Warren, the CEO of Children's and the board of trustees. They believe very heavily in the value of genomic sequencing for patients. Currently genome sequencing isn't covered by some insurance programs. There are other tests like exome sequencing that sometimes is, but genome sequencing currently is not. And the hospital believes that this would be something that would benefit their patients and they've committed funding for at least 200 children to have whole genome sequencing to help find an answer. And to date we have enrolled about 75, and of the patients we have a diagnosis and about 30%. And these were all children who of different ages from infants to even people in their twenties who had been seen by multiple brilliant doctors at Children's who have, you know, throughout their lives known that maybe there's a medical condition that could tie all their symptoms together.

They've seen multiple subspecialists and nobody could really put a name to it, right. But now because of the genome sequencing, we were able to look at all their genes simultaneously and try to see if there was a DNA spelling that could answer those medical questions and have been really pleased with the times that we've been able to find an answer for kids and then adjust their healthcare because of that.

Host: That's amazing. So I would imagine they would be able to start tailoring some treatment plans, looking at the types of specialists that they would need to see to help with those conditions and help with that disease.

Dr. Hurst: Right. So it really makes things more personalized and truly individualizes their healthcare plans.

Host: Okay. We were talking when we first met. What is the difference between the genetic DNA testing that's advertised on TV or the radio and the type of testing that you guys do here?

Dr. Hurst: Sure. It can be very confusing when you hear all of these advertisements on TV or even in magazines about different types of genetic testing. The type of direct to consumer genetic testing that's out there is usually uses a different technology than what we use in a medical setting. They often might spot check or kind of glance at certain common changes in genes, but they're usually not fully sequencing or reading a gene start to finish. There can be times where those tests could be helpful or interesting, but if you have a medical condition, the direct to consumer or at home tests definitely don't replace a medical test, and they don't replace a visit with your doctor to talk about your personal and family history in more detail.

Host: Yeah, so they're just looking at a little snippet, whereas you guys are looking at the entire genome.

Dr. Hurst: And there's definitely a lot of limitations of the at home test. And so we don't want people to do an at home test and then assume, well my genetics test was normal so I don't need to worry about genetic conditions in my family.

Host: Right. Go into a little bit more detail as well about, so it's not just about rare diseases, but then also maybe if an older sibling has something, do parents often want to test before they have another child?

Dr. Hurst: So we will see individuals who have a genetic condition themselves or if a condition runs in the family and they might want to know are they personally at risk of getting that condition later or could they pass that condition onto a child. So we will see children at Children's if they're of the pediatric age. But we also have clinics across campus at UAB for adults and we have a prenatal clinic as well where people, even before they have a child or kind of in the preconception time, could meet to talk about their family history to talk about their own personal health. And usually a genetic counselor would meet with them to talk about what we call risk assessment and thinking about what are the chances of different conditions being there in the family. And sometimes there could even be genetic testing that's indicated to give you a more personalized risk assessment number.

Host: Okay. Are there enough geneticists out there?

Dr. Hurst: I don't think so.

Host: You don't think so.

Dr. Hurst: We stay pretty busy and I think part of that is because with more interest in genetics and with more growth in the field, a lot of people are seeing the value that genetics can bring. So we definitely could use more geneticist.

Host: All right. I'll let my kids know.

Dr. Hurst: Great. And we have lots of training programs at UAB too. I think that's one of the best parts about working at Children's and UAB is that we have several people that we are able to help train, not just pediatricians interested in genetics but also adult medicine residents who want to learn more about genetics in their practice and even maternal fetal medicine, OB GYN doctor. So you can be a geneticist and have a background in really any type of medical care.

Host: Oh that's wonderful. Yeah. Cause you're a pediatrics.

Dr. Hurst: Right. So I love working with kids, but really as a geneticist, part of the joy is that I can work with people of all ages from preconception through adulthood.

Host: Okay. And one of the other reasons why we're talking today is not just because of the advancements in technology and in genetic testing, but also because of rare disease day, which is always celebrated at the end of February. And so, give us a little information on that. I know we have a symposium happening here and then also a conference for patient, caregivers, and families the next day, but a little bit about rare disease day and what that means to these families.

Dr. Hurst:

So rare disease day is an international effort to try to bring more attention to the field of rare diseases and knowing that there are so many people who are affected because individually a disorder might be very rare, only affect a few people. But collectively there are so many different individuals that are living with a rare disease. There's some estimates that say one in every 10 people could have a rare disease. And in the US we define a rare disease is something that affects less than 200,000 people. So in Alabama, that means about 500,000 people are living with a rare disease. Things are individually unique, but collectively very common. So I think the value of rare disease day is by getting people together to help them see some of the common things that they share with each other. So they can advocate work on a higher level to help with some of the, maybe governmental or medical system or educational system changes that they might could use to advocate for themselves and their family members. And it's a lot easier to do that as a larger combined group then each individual disorder trying to create a foundation to do that themselves.

Host: Sure. And I'm sure, you know, it gives them the power to maybe go to their State legislators or maybe even to Washington and talk to Congress and just meet together to advocate for people with rare disease.

Dr. Hurst: Here in Alabama we have a group called Alabama Rare and advocacy is one of their main missions. They really want to focus on a State and also National level at bringing more attention and awareness to individuals with rare disease.

Host: And some of the barriers that they may face.

Dr. Hurst: Right. Cause you know, a lot of red or diseases are genetic. There's over 6,000 rare diseases total and over 70% are genetic, but not all are. And so we want to make sure we're including patients with those conditions as well.

Host: Okay. So we have a symposium coming up. It's a two day symposium that we host every year here at Children's related to rare diseases. It's the Rare Disease Genomics Symposium. Tell us a little bit about that.

Dr. Hurst: Yeah, so this is the seventh year that UAB and Children's are sponsoring this event. And it's two days, like you mentioned the first day on February 21st has a physician scientist focus, and on the 22nd Saturday, we have a parent and caregiver and patient focus. At that event the theme this year is using technology and collaboration to navigate the rare disease journey and there'll be childcare and lunch provided and also travel stipends from the Alabama Rare group with lots of opportunities for individuals to interact and learn more from each other as a community.

Host: So Alabama Rare really puts on that second day to try to empower patient families and caregivers to learn more about the field and more about rare disease.

Dr. Hurst: Yes, absolutely.

Host: So we have a lot of resources that people can go to if they want to learn more versus the children's website, that's children' And then the UAB website is And then you have a couple more.

Dr. Hurst: Sure. So if people have interest in learning more about genetics as a topic, there's a great site called genetics home reference that is run by the NIH. Their website's a little harder to find, but it's G H R for genetics home reference and they can also get more information on the worldwide Rare Disease Day at And if you're in Alabama and have an interest in partnering with the Alabama Rare advocacy group, their site is

Host: Okay, great. Thank you so much Dr. Hurst for joining us today.

Dr. Hurst: Thanks for having me.

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