NEB Podcast #61 -
Transcript
Interviewers: Lydia Morrison, Marketing Communications Writer & Podcast Host, New England Biolabs, Inc.
Interviewee: Claudia Gonzaga-Jauregui, Ph.D., Assistant Professor & Principal Investigator, Laboratory for Mendelian Genomics and Precision Medicine at INTERNATIONAL LABORATORY FOR HUMAN GENOME RESEARCH, Mexico
Lydia Morrison:
Welcome to the Lessons from Lab and Life Podcast, brought to you by New England Biolabs. I'm your host, Lydia Morrison, and I hope this episode brings you some new perspective. Today I'm joined by Dr. Claudia Gonzaga-Jauregui, who is an assistant professor and principal investigator at the Laboratory for Mendelian Genomics and Precision Medicine at the International Laboratory for Human Genome Research in Mexico. Claudia's goal is to increase access to molecular diagnostics and precision medicine throughout Mexico. Claudia, thanks so much for taking the time to sit with me today.
Dr. Claudia Gonzaga-Jauregui:
Thank you for the invitation.
Lydia Morrison:
I was hoping that you could tell our listeners about the focus of your work.
Dr. Claudia Gonzaga-Jauregui:
Sure. So I'm a human geneticist, so most of my work is focused on figuring out the molecular causes of different genetic diseases. I focus a lot of my work on studying rare diseases, which are conditions that occur at the low prevalence, and most of them are genetic. But also another part of the focus of my research is looking at population data and identifying variants associated to these known genetic conditions to try to assess the prevalence of genetic disease in different populations, specifically in Mexican and Latin American populations, and also the burden of disease.
Lydia Morrison:
Such important public health work to be able to understand the population density of those genetic variations. What is it about genetics as a tool to solve for human healthcare challenges that really appeals to you?
Dr. Claudia Gonzaga-Jauregui:
Well, I do believe that human genomics has the potential to reduce the equity gap in different countries. However, it also has the potential to broaden it if we don't, as a community, as a scientific community, as a society, make efforts in making genomics available to everyone. So I think having the technology, we know how to use the instrument, how to analyze genomic data, how to interpret many of it, not all of it, but many, especially for rare genetic conditions and other type of variation that it's highly penetrant associated with diseases in populations. The problem right now is enabling that access in other populations in low and middle income countries and in places that don't have the economical resources to pay for that type of technology on a day-to-day basis.
Lydia Morrison:
Yeah, very, very important work. What is it that you are doing to provide more access to genetic testing and genetic diagnostics as tools?
Dr. Claudia Gonzaga-Jauregui:
Yeah, so in Mexico and many most other Latin American countries access to, for example, clinical exome sequencing or now clinical genome sequencing that's available in the US and other countries is not really available. So I tend to think that in Mexico, we are about 10 years behind from what is happening in other places. So it reminds me very much of when I was at Baylor and we were working on the Centers for Mendelian Genomics, and we started doing these exome sequencing studies on the research side for studying Mendelian diseases. So that's kind of where we are in Mexico right now. So there aren't a lot of projects or a lot of labs that do clinical exome sequencing or research exome sequencing. So what we've been doing is exactly that. We have a project on genomics of rare and undiagnosed diseases in Mexico. So we provide trio exome sequencing most of the time.
So mom, dad, and affected child for patients with suspected genetic disorders that cannot pay these tests clinically or many times they are sent out to other countries to get clinical testing. So we offer free of charge research-based exome sequencing for patients with genetic diseases to try precisely to enable that access for these patients that very clearly have genetic conditions, but otherwise couldn't afford to get genetic testing. So that's what we're doing in Mexico. And then the idea is to extend these to Latin America as a region. So we want to promote the establishment of reference centers for molecular diagnosis in Latin America, where we can have samples from neighboring Latin American countries be sent to a specific reference center, and then get that sequencing, that molecular testing done in these centers, and then return those results to patients that live in countries that don't have that infrastructure and that access.
Lydia Morrison:
Yeah. And I would imagine that that would also help Latin American countries build up a repository of genetic information about their populations too. So it really helps bring that information both to the patients, but also to the public health arena where decision making can be made, right?
Dr. Claudia Gonzaga-Jauregui:
Yeah. One of the major issues that we have right now is that a lot of these patients that can potentially pay out of pocket and they are being sequenced, the samples are being sent out to the US, to Germany, to Korea, to China, to companies that are doing these type of sequencing, clinical exome sequencing or genome sequencing in some cases, but the clinicians are not asking for the data back. So then we're losing all of that data, which as you say, some of these would be really useful to start building those databases that information about the frequency of variants in these populations, but we are not recovering that data. So that's another reason to try to incentivize the sequencing being done in the countries so that the data remains in the country and helps to build those databases.
Lydia Morrison:
Yeah, super important. You mentioned that your graduate student studies were at Baylor College of Medicine. I'm curious why it was important to you to return to Mexico.
Dr. Claudia Gonzaga-Jauregui:
Well, initially, so after I finished my undergraduate studies in genomic sciences, I was very certain that I wanted to do human genetics genomics, but at that time, there was very little to nothing on human genomics being done in Mexico. So it was very clear to me that if I wanted training on that, I needed to go out. And I went to Baylor, which has one of the major human genetics departments in the US, also the Human Genome Sequencing Center, which contributed to the Human Genome project is there. So that was very exciting to be at that time at Baylor, and I was actually able to contribute to some of the first analysis and projects on large-scale exome sequencing and genome sequencing for genetic diseases.
But then I always wanted to do things in Mexico and bring some of that back to Mexico, because again, there is this lack of access to these technologies. So then as I progressed in my career, it was just this little voice that was telling me, "You are doing this analysis every day for thousands of patients, but people in Mexico and Latin America don't have access to these technologies, so what can we do?" So that was part of the motivation to eventually go back and establish my research laboratory in Mexico and try to do things from inside.
Lydia Morrison:
One of the programs that you established in Mexico is the ReMexER program. Could you explain that to our listeners?
Dr. Claudia Gonzaga-Jauregui:
Sure. So in 2020, we started this Mexican network for rare diseases. So La Red Mexicana de Enfermedades Raras, ReMexER, and that's basically a network between clinicians that are seeing patients with rare diseases that again, they know that this patient has a genetic disorder, could benefit from having genomic studies, but they can't afford it. And then on the research side is us and other researchers that do other tests as well, that we can offer those capabilities on a research basis and to connect those two sites because one of the issues in Mexico is that many times clinicians are not very connected with research, and so many patients maybe could benefit from being included in research studies, but they are just never referred to research studies because of this lack of communication. So given that the clinicians are the ones that have that direct access to the patients, so we started connecting with them, forming this network to facilitate that access to genomic sequencing and other molecular technologies.
It sort of has evolved. And now we also have some collaborations with patient organizations in Mexico, because also sometimes the patients, maybe they don't feel comfortable, or many times they're not even referred to a geneticist. So then patient organizations become really crucial to have that connection between the patients directly and then the research side. So we have partnered with Pensemos en Cebras Mexico, which is another profit organization that advocates for newborn screening and early diagnosis. And then some of the patients sometimes contact Cebras and then they arrive to the research project that way. So ultimately, it's these collaborative network between clinicians, researchers, and patient organizations to enable access to molecular diagnostics.
Lydia Morrison:
What an important connection to make, and I'm really impressed that you saw the need for that, the dissociation from clinicians and from the research community and found ways to be able to build those bridges and reach out to patients both through the patient groups and the clinicians themselves to be able to offer access to those things. How long has the program been in place now?
Dr. Claudia Gonzaga-Jauregui:
So the Mexican Network for rare diseases, we started it in 2020, but the genomic sequencing program, we launched it in January of 2022, so we're going to be two years and a half. And we are recruiting families and patients. We are also running as part of ReMexER, a registry for rare diseases in Mexico because the patient organizations in Mexico had requested for a long time to have a national registry, and then the government technically agreed, but then didn't execute, didn't do anything. And then in 2021 during the pandemic, they opened the registry and they closed it two months later because they thought that they would look bad because of the number of people with diseases in any case, because of this lack of national registry for rare diseases.
So we started the project, it's an academic project to start gathering information is self-reported open to patients in Mexico to fill in an online questionnaire about their rare disease, the challenges and the cost of living with rare diseases in Mexico, and also trying to get some of that data for which diseases are we seeing in the population, their prevalence, and on a societal basis, what are some of the issues that these patients are facing when living with these conditions?
Lydia Morrison:
Yeah, it sounds like a really crucial step towards improving human healthcare in Mexico and the quality of patients' lives, as well as the understanding of those genetic variations within the population, and helping also, I would think, find a network of resources for those individuals. So it's amazing, powerful work. I know that you've also been doing some work to support the WHO Science Council. Could you tell me a little bit about that?
Dr. Claudia Gonzaga-Jauregui:
Sure, yeah, that's very interesting work in theme because the WHO Science Council was created a few years ago by the director of WHO in the middle of the pandemic to really get a bit of scientific perspective of what are the technologies, what are the needs, what are some of the major themes in healthcare or to improve public healthcare around the world? And so the WHO Science Council has these assortment of really big scientific personalities. And it was interesting because they chose as their first topic of emphasis genomics and their potential to contribute to equitable healthcare. So in 2021, 2022, I think there were three or four online roundtables to discuss of the different aspects and applications of genomics to healthcare, but also pathogen surveillance and also other applications more broadly for genomics, but specifically for human healthcare.
And then those conversations. So I was invited to participate in the roundtables, and I presented in one about how genomics can inform prevalence of diseases in populations. And then that resulted in this report that was published at the end of 2022, which was the first report of the WHO Science Council on facilitating access to genomics for public health and the need for member states of the United Nations to really implement strategies for genomics according to their capabilities and needs to improve public healthcare and make healthcare more equitable around the world. So that was very exciting because again, the recognition by WHO that genomics plays such a big role and can have such a big piece in addressing healthcare disparities, that was very important. And also hopefully that that would make an emphasis in member states to invest in these technologies in developing this infrastructure.
But then for a period of time, it was like, "Well, what else? So there's the report, but then how do we make this happen?" So I'm very happy, and a few weeks ago I participated in a meeting in Brazil about implementation of genomics in the Americas. So it was Latin America and US and Canada, so across the whole continent and really see what are the challenges, what are the needs, what are the different common themes, but also potentials for collaborations and improvement in implementation. So there were representatives from many countries there, and it was also interesting to see that there were many shared issues and challenges at the regional level and sort of how do we address some of that as well. And also the WHO people, they show that they are implementing a plan for following up on the report.
So our hope, speaking for myself and many other of the attendees is that there's definitely a bit more of these, let's call it pressure if you will, from WHO towards member states or recommendations because they don't pressure governments, but they can recommend to governments to really invest in genomic technologies, invest in programs for implementation of genomics for public healthcare. So I think it's very promising. It's very exciting times, and we look forward to the impact that that will have for healthcare systems in Latin America.
Lydia Morrison:
Absolutely. I think it's really great that the World Health Organization is putting thought and strategy into helping move genomics forward throughout the world. And certainly it's nice to hear that the meetings are ongoing and the plans are ongoing and evolving, and that so many individuals who specialize in genomics and genetics and population genetics are being included in these conversations. Because obviously as we've been talking about today, it would be great to see a move in the needle toward more equitable universal access to healthcare opportunities. And I know that you are very passionate about science, education, genomic diversity and equity, both in science and in healthcare access. Obviously, you've been doing lots of different things to promote that through your work in Mexico as well as your work with the WHO. I'm curious is there's something in particular that you've been working on in that field that you feel is particularly important to you?
Dr. Claudia Gonzaga-Jauregui:
Well, again, I think just having that, as you said, that universal access thing, that ensuring that any patient that has a suspected genetic condition, no matter where they were born, where they live, whether they can pay or not, actually has access to these type of technologies because we have them. They exist. We know how to use them. So there shouldn't be a limitation for a patient to get an accurate and timely diagnosis if they have a genetic condition. So again, a lot of what we're trying to do both in Mexico but also in Latin America, is how to improve or move the needle for patients living with rare diseases across the Latin American and the Caribbean regions. Also, in 2020, we started this group, which is Low-Prevalence Diseases Collaborative for Latin America and the Caribbean, CEPAL, which is exactly not just on the side of diagnostics, but all the different aspects that impact patients with rare diseases.
So legislation and regulation, access to treatments, access to integral care, that it's not one specialist at a time, looking at this tiny piece of the phenotype, but actually looking at the patient as a whole and getting that holistic treatment that they need for these kind of diseases. And then also increasing the awareness and the education about these conditions in the region by producing materials that are informative and that people start being more aware because, well, I had like to think that if people demand to have these technologies available to have access to these molecular diagnostics, then the government should listen and then they would fund this type of initiative. So I think also making the general public aware that these technologies exist, that they can be used in what is the benefit is relevant. So we have activities on outreach and education, and then also for example, access to clinical trials, which many patients in Latin America, even if there is a trial for the condition, they might not have access because they are in Latin American.
Many pharmaceutical companies don't want to get involved in Latin America because of issues with corruption or bureaucracy or something. So how do we convince pharmaceutical companies to also include some of these patients? And in some other cases, patients are not recruited because precisely they don't have a molecular diagnosis. And a lot of the clinical trials nowadays, depending on the condition of course, but would require the patient to have that specific molecular diagnosis. So trying to address several, all of the issues that are common across the region and recurrent for patients living with rare diseases, and how can we strategize and find solutions at a regional level.
Lydia Morrison:
Yeah, I think there are plenty of challenges to be addressed. Thank you so much for joining us today and for sharing a snapshot of what the current state of healthcare access and genomic testing access and molecular diagnostic testing access is like in Mexico and Latin America, and some indicators of how pharmaceutical companies and other corporations can sort of help increase that accessibility and increase that sharing of information. I think that the work that you're doing is really powerful in building those collaborations and pointing out the challenges that are being faced by these countries. And I look forward to seeing a future where genomic testing, access to molecular diagnostics, ability to be included in clinical trials and improving healthcare for major populations around the world is something that is getting closer and closer. Thank you so much.
Dr. Claudia Gonzaga-Jauregui:
Thank you. Thank you very much for the invitation and for the chat.
Lydia Morrison:
Thank you for joining us for this episode of the Lessons from Lab and Life Podcast. Please check out our show's transcript for helpful links from today's conversation. And as always, we invite you to join us next episode.
