Latest / Pediatrics Now: Cases Updates and Discussions for the Busy Pediatric Practitioner / Silent Crisis: Pediatric Cancer Gaps in Latino Communities
Transcript
- 0:01I'm Holly Wehment, and this is Pediatrics Now, brought to you by the Department
- 0:06of Pediatrics at UT Health San Antonio and University Health's new Women's and Children's Hospital.
- 0:13Today, I'm bringing you two great talks from the Advancing Cancer Research for
- 0:19Latinos at All Populations Conference.
- 0:22This is from two doctors.
- 0:24Why children are falling through the cracks of pediatric cancer care in America. Welcome in.
- 0:30I hope that you all find this very valuable, exciting, and somewhat,
- 0:35you know, something that can project in the future some benefit,
- 0:38especially if we can coordinate more efforts together. That would be amazing.
- 0:43So this panel, as I mentioned, is pediatric cancers, and we're going to call
- 0:47it, you know, the silent crisis, why children are falling through the cracks
- 0:51of the pediatric cancer care in America, especially, you know, the most vulnerable,
- 0:56underserved patients. So our kids.
- 1:00So we're going to start with Dr. Smith. Dr.
- 1:03Smith is an associate professor in the Department of Pediatrics at the Beckman
- 1:07Research Institute of City of Hope Medical Center and a scholar of blood cancer,
- 1:13United, formerly the Leukemia and Lymphoma Society.
- 1:16Dr. Smith is a genetic epidemiologist with research focused on identifying the
- 1:21causes of acute lymphoblastic leukemia, the most common childhood cancer,
- 1:26particularly in Hispanics.
- 1:27His particular interest in undergoing increased risk of ALL in children of Hispanic
- 1:33and Latino ethnicity would focus on the role of genetic variations and genetic ancestry.
- 1:38So please, applause and welcome Dr. Smith. Thank you so much.
- 1:42Buenos dias. Good morning, everyone. Very happy to be here. Thank the organizers
- 1:47for inviting me to speak.
- 1:49Actually, there's nowhere to put my water. So I'm excited today to speak about
- 1:54our research on acute lymphoblastic leukemia,
- 1:57which some of you may or may not know has an increased risk in individuals of
- 2:04Hispanic or Latino ethnicity.
- 2:06So first of all, I'll just give a brief background on what we know about the
- 2:11epidemiology of acute lymphoblastic leukemia, and then some of our research
- 2:15looking into the genetic contribution to the increased risk of ALL in Hispanic or Latino children.
- 2:21And then finally, I'll briefly talk about some research from other groups that
- 2:26have looked at genetic ancestry and somatic alterations and patient outcomes in childhood ALL.
- 2:32So ALL is the most common childhood cancer. It's a cancer of white blood cells,
- 2:37mostly B cells, about 80% and about 20% T cell ALL.
- 2:43So it comprises about 30% of childhood cancers, and there are over 3,000 new cases each year.
- 2:49Now, the good news is, if you look at this figure on the right-hand side,
- 2:54cure rates of childhood ALL have really increased over the decades.
- 2:58So it's really one of the success stories of cancer treatment.
- 3:03And this was due to the development of combination chemotherapy that's led to
- 3:09cure rates of upwards of 90%.
- 3:11Now, the bad news is those survivors of childhood ALL face lifelong treatment-related
- 3:17morbidities and increased risk of mortality, for example, from secondary cancers.
- 3:22Also the bad news, ALL remains a leading cause of childhood mortality,
- 3:27despite the high cure rates.
- 3:30So really, prevention remains an important goal. In terms of the natural history
- 3:34of childhood ALL, we know that for many of the molecular subtypes of ALL,
- 3:40the first hit mutation actually occurs during pregnancy in utero.
- 3:44And this has been shown from studies, for example, of identical twins,
- 3:49where one twin has developed leukemia, and that same mutation has been found
- 3:54in their identical twin who did not develop leukemia.
- 3:57And it's also been shown from what's called backtracking studies,
- 4:00where we can define the mutation in the tumor at diagnosis and then go back
- 4:05to blood samples from birth, for example, newborn dry blood spots,
- 4:09and find that exact same mutation.
- 4:12We also know that for some of the molecular drivers of ALL, these can be found
- 4:17in kids who never develop leukemia.
- 4:19So for example, the ETV6-Rungs1 fusion, which can be found in about 25% of childhood ALL.
- 4:27This fusion has been found in up to 5% of healthy newborns.
- 4:31So we know that this initiating lesion can occur prenatally,
- 4:35and this pre-leukemic clone can go on for several years and may eventually become
- 4:41leukemia when their second or third hip mutations occur later in childhood.
- 4:46So our group is interested in what are the genetic modifiers and what may be
- 4:51the environmental modifiers, both of this initiating lesion and of these second hip mutations.
- 4:56And for those of us who are interested in what causes ALL, we're starting to
- 5:00think about the potential for newborn screening of pre-leukemia for earlier
- 5:04detection and perhaps even prevention.
- 5:07And I'll come back to this point at the end of my talk.
- 5:10One of the most striking trends in the epidemiology of ALL is this increased
- 5:15risk in individuals of self-reported Hispanic or Latino ethnicity.
- 5:19And so this is data from SEER. You can clearly see the increased risk in Latinos.
- 5:25And this is not just in children. This is actually across the age groups.
- 5:29So in fact, when you get to the AYA and adult population, it's about a twofold
- 5:33increased risk compared to non-Hispanic or non-Latino whites.
- 5:37Interestingly, this increased risk appears to be specific to the B-cell immunophenotype
- 5:43of ALL, which points to there being an underlying biological cause.
- 5:47In addition to the increased risk, we know that the incidence of ALL has been
- 5:52rising in Hispanic or Latino populations, and this increasing incidence appears
- 5:57to be specific to this population.
- 6:00Again, this is also seen across age groups.
- 6:03And there are also racial and ethnic disparities in the outcomes of childhood ALL patients.
- 6:08So both Hispanic Latino and Black or African American patients have inferior
- 6:13survival than non-Hispanic whites.
- 6:16This has been shown kind of 20 years ago looking at SEER data,
- 6:20but has been shown to persist to recent years.
- 6:23And there are likely several reasons for this disparity, including social determinants
- 6:28of health, environmental factors, tumor biology, and genetics.
- 6:32Including genetic ancestry which I'll talk about a little bit later.
- 6:36And there's also evidence that Hispanic or Latino children with higher proportions
- 6:40of indigenous American ancestry also have worse survival.
- 6:44So one of our main research interests is in addressing the question of what
- 6:49is the genetic contribution to the increased risk of ALL in Hispanic and Latino children.
- 6:54And so I'll describe some of our recent research that tries to address this
- 6:57question looking at both the contribution of genetic variants as well as genetic ancestry.
- 7:04So Hispanic and Latinos are a genetically admixt population,
- 7:07comprising the genetic ancestry proportions of each patient can be inferred
- 7:13from their genotyping data,
- 7:15where each individual's ancestry proportions reflects the fraction of their
- 7:19polymorphisms across the genome that have frequencies most similar to those
- 7:24in reference populations,
- 7:26for example, African, European, and Indigenous American individuals.
- 7:30And altogether, these ancestry proportions sum to 100%.
- 7:34So we know that genetic ancestry is correlated with race or ethnicity,
- 7:38but it captures more complex population origins and also can capture different
- 7:45exposures and factors that may impact disease risk and patient outcomes.
- 7:49And by studying genetic ancestry and the variants that are associated with ancestry,
- 7:54this may provide clues as to the increased ALL risk in Hispanic and Latinos.
- 7:58I did want to point out that there's four Hispanic and Latino populations in
- 8:04this figure, and I'm not sure if my mouse works, but I'll try and describe it.
- 8:10You can clearly see, for example, in the Peruvian population have much higher
- 8:18proportions of indigenous American ancestry compared to the Puerto Rican population
- 8:23that has a larger contribution of European and African ancestry.
- 8:28In this review paper from a couple of years ago, we showed that many of the
- 8:32known childhood ALL risk allele frequencies are skewed towards having a higher
- 8:36frequency in Hispanic and Latinos than in European populations,
- 8:40highlighting a couple of genes of interest here.
- 8:44IKZF1, which I'll come back to in a couple of slides.
- 8:47GATA3 and ARID5b have been known for several years now to have a higher risk
- 8:52allel frequency in Hispanic Latino populations.
- 8:55The ERG-SNP, although the risk allel frequency difference is not huge,
- 9:01it actually has a larger effect on ALL risk in Hispanic and Latino children
- 9:05than in children of European ancestry.
- 9:08So we think this highlights the importance of studying genetic risk of ALL in
- 9:13Hispanic and Latino populations.
- 9:15Now, as well as looking at these individually, we can also sum the effects of
- 9:19all of these individual variants into what is called a polygenic risk score.
- 9:23And this is from a multi-ancestry study, genome-wide association study,
- 9:28using our California-based ALL cases and controls.
- 9:32We constructed this polygenic risk score from, at the time, 18 of these SNPs or variants.
- 9:38And you can clearly see that this PRS is shifted to the right-hand side in Hispanic and Latinos.
- 9:45So this was with cases and controls combined. And when we stratify by case control
- 9:50status, you can see that even amongst the controls,
- 9:53the Hispanic-Latina controls have a significantly higher polygenic risk score
- 9:59for ALL than the European Ancestry controls.
- 10:02So this higher burden of the ALL SNPs may partly explain the increased ALL risk,
- 10:09although this may be simplifying things in terms of just comparing PRS across populations.
- 10:15But beyond the genetic loci that were known, are there additional genetic factors
- 10:21that contribute to the ALL risk in Hispanic and Latinos?
- 10:24So previous studies, including our own, had identified IKZF1 as a risk locus for a childhood ALL.
- 10:31But the number of the common alleles at this locus, the causal variants,
- 10:36and their underlying mechanisms were unknown.
- 10:39So using our California-based GWAS, we first looked in the Hispanic Latinos
- 10:44and performed something called conditional association testing.
- 10:48So what's that? You can see the top figure on the left-hand side.
- 10:51This is just showing the p-values on the y-axis across the gene,
- 10:56which you can see on the bottom there.
- 10:59So these are simply the results from our GWAS, comparing the allele frequencies
- 11:04between cases and controls.
- 11:06Now, when we adjust for that most significant hit, if you look at signal 2 in
- 11:10the middle there, you see the
- 11:12second independent significant locus to the right-hand side of the gene.
- 11:16And then when we adjust both for the signal 1 and signal 2 top snips,
- 11:20we see this third independent risk locus at IKZF1.
- 11:25And actually, interestingly, the two top hits in signal 2 and signal three are
- 11:30only about 25 base pairs apart in the genome,
- 11:32and they're both overlapping with a regulatory region or an enhancer region
- 11:37that we hypothesized may impact expression of this gene.
- 11:43Now, interestingly, when we looked in the non-Hispanic whites,
- 11:46we only see two independent risk loci and we do not see that third signal.
- 11:51So it appeared to be specific to Hispanic Latina populations, at least in our study.
- 11:57So this novel variant has about a 20% risk allele frequency in Hispanic and
- 12:02Latino populations, but is basically absent in individuals of predominantly European ancestry.
- 12:08So it has a frequency of less than 1% in non-Hispanic whites.
- 12:13So why does it have such a high risk allele frequency in Hispanic and Latinos?
- 12:17Well, we found that the allele is actually positively correlated with indigenous
- 12:23American ancestry in Hispanic and Latinos.
- 12:25So you can see here with increasing global, so genome-wide ancestry proportions,
- 12:31with increasing indigenous American ancestry, you see an increase in the risk
- 12:35allele frequency of this SNP.
- 12:38So why did it become so prevalent in Hispanic and Latino populations?
- 12:42We next looked at ancient genomes to see when this allele may have arisen.
- 12:46So we had access to this shotgun sequencing data in ancient DNA samples in the Americas.
- 12:52And so the green here is showing presence of the IKZF1 allele,
- 12:56and the darker the color, the older the individual that was sequenced.
- 13:00So that red arrow is pointing to the oldest sequenced indigenous American from
- 13:05almost 13,000 years ago.
- 13:07And we showed that actually this individual was heterozygous for this leukemia risk allele.
- 13:12And it's clearly present at quite a high frequency across the Americas.
- 13:16So we next looked at why may this allele have become so prevalent? in the Americas.
- 13:25So we explored signatures of positive selection at the IKZF1 locus and found
- 13:30significant selection in two Hispanic and Latino populations,
- 13:34the Peruvians in Peru and Mexican ancestry in Los Angeles.
- 13:39We found no evidence of selection in a European population or in a East Asian population.
- 13:45Even though this allele actually has a similar frequency in East Asians.
- 13:49So we think our kind of running hypothesis is that the IKZF1 risk allele arose
- 13:55sometime after the split of Europeans and Asians.
- 13:59And then after the East Asians entered the Americas over the Bering Strait,
- 14:04there was likely a reduction in the risk allele due to a population bottleneck.
- 14:08And we think that there's since been selection leading to, actually in modern
- 14:13day Indigenous American populations about a 50% allele frequency.
- 14:18And then through admixture, we see about an 18% frequency in Hispanic and Latino populations.
- 14:24I'd be happy to discuss the kind of potential reasons for the selection later on.
- 14:29And so to summarize this part, we showed that Hispanic and Latinos are unique
- 14:34in having three independent risk loci at this childhood ALL associated gene, IKZF1.
- 14:40This allele has about a 20% frequency in Hispanic and Latinos,
- 14:44is basically absent in Europeans, shows evidence of positive selection,
- 14:49and we think contributes to the increased risk of ALL in Hispanic and Latino populations.
- 14:54If you look in our manuscript, I didn't have time to go through this today,
- 14:58but we performed some functional studies to try and understand the impact of
- 15:03this variant on IKZF1 expression.
- 15:06But we think, well, we know that the precise effect of this allele is still
- 15:11to be determined. So we're currently working on.
- 15:14Some cool functional studies in collaboration with Dr. Vijay Sankaran at Boston
- 15:18Children's Hospital to precisely look at how does this allele impact the enhancer
- 15:24region and its effects on IKZF1.
- 15:27So what are we doing now?
- 15:30I was fortunate enough to receive this R01 grant a few years ago to expand upon
- 15:35our existing GWAS data sets in California.
- 15:38So collaborating with groups in, well, Dr.
- 15:41Shura, formerly at Texas Children's Hospital, now at Emory University,
- 15:44Dr. Jun Yang at St. Jude's, and Dr.
- 15:47Catherine Mattia at UC Berkeley, combining all of our data and generating new
- 15:51data to perform the largest genetic study of ALL in Hispanic and Latinos.
- 15:57So I wanted to highlight a recent paper that came out a couple of months ago
- 16:00in HGG Advances, and this was work led by a graduate student, Jalen Lange.
- 16:06So we're looking at local genetic ancestry. So I mentioned global or genome-wide ancestry earlier.
- 16:12So local ancestry refers to the specific ancestral population that contributes
- 16:17to DNA segments in an individual's genome at a particular location in the genome.
- 16:23So we looked at all of the known ALL risk loci and investigated whether it was
- 16:29present more often or not on the indigenous American haplotype.
- 16:33And we found that actually for several of the known risk loci,
- 16:36they were significantly more often on the indigenous American haplotype.
- 16:40And actually, this was more often than not, increasing proportions of indigenous
- 16:44American ancestry were associated with ALL risk at these loci.
- 16:49We also performed something called admixture mapping, which leverages the admixt
- 16:54genetics to look for loci that exhibit these frequency differences between ancestries,
- 17:00and found four significant loci.
- 17:02Two of these were already known, the ARID-5B and IKZF1, and there are two novel
- 17:07hits on chromosome 2 and 15 that warrant further investigation.
- 17:12I also wanted to highlight, I think, an important part of our paper,
- 17:15which was comparing how self-reported ethnicity compares to infer genetic ancestry.
- 17:23So we use this method called HAIR, a harmonizing ancestry and race ethnicity
- 17:28that had been developed by other groups.
- 17:31To see, and this HAIR algorithm, it's a special machine learning tool that categorizes
- 17:37people into genetic ancestry groups for large scientific studies.
- 17:43So for example, if in a study an individual is missing self-reported race ethnicity,
- 17:49you could use this algorithm to predict their label based on the reference genome
- 17:55populations and how their genetics correlates with those populations.
- 17:59So we actually found that in our simulations, only about actually less than
- 18:04two-thirds of individuals labels,
- 18:07when we kind of forced the algorithm to think that everyone was missing their labels.
- 18:16And when we tested using hair, less than two-thirds of individuals were recalled
- 18:20as being Hispanic and Latino.
- 18:22And of those that were not recalled back as Latino, about two-thirds of these
- 18:27were assigned as being missing.
- 18:28So we discussed the use of self-reported versus this hair assigned classifications.
- 18:34Our view is that it's always better to use the self-reported labels rather than
- 18:39trying to categorize people into different bins.
- 18:41So if you have self-report race ethnicity available, that should really be your starting point.
- 18:47Of course, you can consider genetic ancestry and how to account for that in your studies.
- 18:51And we talk more about this in the discussion of our paper.
- 18:55I was also fortunate to receive an administrative supplement from the NIH,
- 18:59back when these were available, to expand our study to Hispanic Latino populations outside of the U.S.
- 19:06So this is in collaboration with Dr. Silvia Jimenez-Morales and Dr.
- 19:11Juan Manuel Mejia-Arangore at UNAM.
- 19:14So we're genotyping additional cases and controls from a study from Mexico City.
- 19:19Importantly, we actually have now several hundred cases from around Mexico,
- 19:23from different regions. so we can really capture different ancestries across the country.
- 19:28So I'm really excited about this study. We're also trying to use controls from
- 19:32the Mexican Biobank study to increase sample size.
- 19:35And we're also trying to pursue childhood ALK's control data from other studies
- 19:40in Latin America, including Guatemala and potentially in Brazil.
- 19:45And really, you know, as well as simply expanding sample size of our GWAS,
- 19:50I think the really important part of this is that we can investigate the impact
- 19:54of the known ALL risk loci and the performance of the polygenic risk score in
- 20:00a Latino population outside of the US and potentially discover novel genetic
- 20:05associations in these populations.
- 20:09And so some ongoing projects. So Ms.
- 20:13Elizabeth Quino, who's in the room here, is leading a GWAS of ALL as well as
- 20:17childhood ALL patient outcomes in Mexican children.
- 20:21And Benjamin Alonso, a student in our lab, is looking into the effective blood
- 20:26cell traits in Hispanic Latino children on ALL risk.
- 20:30Okay, so in my last few minutes, I want to briefly touch upon important research
- 20:35from other groups that have looked at how genetic ancestry impacts somatic alterations
- 20:39and outcomes in ALL patients.
- 20:42So it was shown several years ago now that that Indigenous American ancestry
- 20:46is associated with increased relapse risk in childhood ALL patients.
- 20:51So this was first reported by Jun Yang's group. They also showed that a specific
- 20:56SNP in the ARID5B gene was associated with increased relapse risk and that this
- 21:00risk allele also correlated positively with Indigenous American ancestry.
- 21:05So we think that as well as the ARID5B SNP contributing to increased ALL risk,
- 21:10We also think it contributes to inferior outcomes in Hispanic and Latino patients.
- 21:16And another important study that came out in JAMA Oncology three or four years
- 21:20ago now looked at how genetic ancestry correlates with somatic alterations in childhood ALL tumors.
- 21:27So it had previously been reported that there's a subtype of ALL called pH-like,
- 21:32which has a gene expression pattern similar to the Philadelphia chromosome,
- 21:36BCR-ABLE. That's why it's called pH-like.
- 21:39So this subtype had been shown to be more prevalent among ALL patients of Hispanic and Latino ethnicity.
- 21:45And in this study, they showed that genetic ancestry was correlated with this
- 21:54pH-like, as well as the CRLF2 fusion.
- 21:57And in a separate Guatemalan cohort, they showed a much higher frequency of
- 22:01the CRLF2 rearrangement in individuals with high proportions of Native American
- 22:07or Indigenous American ancestry.
- 22:09And there's other paper that shows that the GATA-3 SNP may partially underlie this association.
- 22:16Also important to highlight that both African and Indigenous American ancestry
- 22:22remained associated with inferior outcomes even after adjusting for these molecular
- 22:27subtypes and clinical features that suggests that there are perhaps additional
- 22:31factors that correlate with ancestry,
- 22:33for example social determinants of health,
- 22:35structural racism, that also impact patient outcomes.
- 22:40And just wanted to point out, there's another recent sequencing study in T-cell ALL.
- 22:44In this paper, they also looked at genetic ancestry, somatic alterations, and patient outcomes.
- 22:49Here, they did use this method of categorizing people into genomically defined ancestry groups.
- 22:55One thing that's important to highlight is that 12% of the patients were actually
- 23:00grouped as being complex.
- 23:04Sorry, a team's meeting thing just popped up on here.
- 23:09So these complex individuals didn't meet the ancestry threshold,
- 23:13so they couldn't be binned into different categories.
- 23:15So something I discussed in the commentary is how, you know,
- 23:19when you group patients by ancestry, it's important to consider,
- 23:23you know, how best to account for patients of mixed genetic ancestry.
- 23:27And finally, I wanted to highlight that inferred genetic ancestry is only as
- 23:31good as the reference populations that are used.
- 23:33And so this was from the Mexico City Perspective Study, showing that when you
- 23:37actually use more reference populations, you see more of a breakdown of different
- 23:42ancestry groups, as you can see on the bottom here.
- 23:45Okay, so our group and others have shown that common genetic variants contribute
- 23:48to the increased risk of ALL in Hispanic and Latino children.
- 23:52Several childhood ALL risk alleles have been positively associated with indigenous American ancestry.
- 23:58Genetic ancestry can impact also the frequency of somatic alterations,
- 24:02as well as their prognostic impact in both B-cell and T-cell ALL.
- 24:07So important questions, how do we incorporate genetic ancestry into epidemiology
- 24:10studies, clinical studies, as well as treatment decisions?
- 24:15And it's important to expand our genetic analyses to populations outside of the US.
- 24:20I don't mention it here, but also important to really understand what's causing
- 24:24the increasing incidence of childhood ALL in Hispanic and Latino populations.
- 24:29And finally, so how can we use this information for potential prevention of
- 24:34childhood leukemia, especially in high-risk populations such as children of
- 24:38Hispanic and Latino ethnicity.
- 24:40So where we think this is going is one day, hopefully, we could be able to incorporate
- 24:46the genetic data at birth, so identify everyone's genetic risk for childhood
- 24:52leukemia as well as other cancers.
- 24:54The possibility of screening for pre-leukemia opens up an avenue towards,
- 25:00identifying those babies that may harbor these pre-leukemia clones at birth,
- 25:04also looking at their genetic risk and also non-genetic or environmental factors
- 25:09to really try and aim towards this precision prevention.
- 25:13And so some of our ongoing research that I'm not talking about today,
- 25:16but I'll highlight this record study where we're conducting backtracking in
- 25:21cord bloods from kids who went on to develop leukemia.
- 25:24And we're also starting to screen for pre-leukemia in unselected newborn cord blood samples.
- 25:31And in my lab, specifically from a Hispanic-Latino population.
- 25:34And I have collaborators who are looking at this in European ancestry populations.
- 25:39So with that, I'd like to acknowledge all of my collaborators and look forward
- 25:44to answering questions and more discussions. Thank you.
- 25:50Any questions?
- 25:54Thank you for that fascinating talk. I
- 25:57wondered what the role of IKZF1 is in just its function and also its role in
- 26:09ALL and whether it could be used potentially as a drug target for prevention or treatment of ALL.
- 26:17I appreciate the pronunciation of the British Z there. So IKZF1 codes for Icarus
- 26:24protein, and it's really crucial for lymphocyte development.
- 26:29And so there are kids with rare pathogenic variants in the IKZF1 gene that have
- 26:36immune dysfunction or immune deficiency.
- 26:39Those same children or families also have an increased risk of ALL.
- 26:43And so there's evidence that loss of IKZF1, and I should add,
- 26:50somatic loss of IKZF1 is quite common feature of ALL.
- 26:54So about 20% of the tumors actually have deletion of the gene.
- 26:57And so we think that loss of IKZF1 leads to stalling of B cell development in
- 27:03an earlier kind of pre-probie stage.
- 27:06And those cells are propagating more in that early stage and are more likely
- 27:10to develop the second hit mutations that cause leukemia.
- 27:14So that some of our work is trying to understand first, what is the function of IKZF1?
- 27:19And then what is the function of the risk alleles that may impact leukemia risk? Anybody else?
- 27:27What is this? Oh, sorry. Did you have a question here? Oh, sorry.
- 27:32You want to go first, Isabel?
- 27:36What is the expected prevalence of this pre-leukemia? And, you know,
- 27:40what sort of issues do you anticipate in telling someone your baby may be predisposed to leukemia?
- 27:46So the prevalence of the pre-leukemia, is that the question? Yeah.
- 27:51So for the ETV6-Rungs1 fusion, it's been found in up to 5% in published studies.
- 27:57Actually, our collaborator is finding it even higher, maybe 10% frequency.
- 28:02And that's just one subtype.
- 28:04So we're also interested in branching out to look at other subtypes,
- 28:07such as the CRLF2 fusion, which is more prevalent in Hispanic and Latino patients,
- 28:12to see if we can also detect that at birth.
- 28:14Yeah, but they're going off, I think there is, you know...
- 28:17These students are telling a Latino family your child has leukemia. Exactly.
- 28:24That's where I think the genetic risk will come into it.
- 28:28If we can identify people in that top 5%, for example, of the polygenic risk
- 28:33score and pre-leukemia, I mean, we'll obviously have to model this to see what is the risk.
- 28:38Because, yeah, we do not want to tell parents that their children have pre-leukemia
- 28:43without, first of all, without knowing what is the risk of leukemia.
- 28:46Second of all, without an intervention.
- 28:48And so that's also the missing part of this is what could we actually do?
- 28:52Thank you, doctor. Great. This is really great. I've been following the,
- 28:56you know, child pediatric leukemia for a long time with Latinos.
- 29:00And I appreciate this because this is kind of where I was going to go with my question.
- 29:05But as a community activist, not a scientist, to Luis's point,
- 29:10how do we begin to intervene early enough to diminish that risk of late stage,
- 29:17oftentimes with our Latino kids?
- 29:20So where do we start and how do we start?
- 29:23I remembered a presentation from Dr. Hillman back in 2009, when she was talking
- 29:28about mutation in utero as a result of environmental exposure.
- 29:34So how do we tie all of that together, start early education and intervention
- 29:38and raising awareness for communities to diminish that risk for kids later on?
- 29:43That's a really good question. I probably don't have enough time to answer it
- 29:46properly. But I guess quickly, identifying environmental risk factors is difficult.
- 29:52So we have some evidence of tobacco exposure being involved.
- 29:56We are starting to conduct studies looking at environmental factors impacting
- 30:02mutational patterns in the tumor to try and provide more evidence that they may be causal.
- 30:07So I think it's really difficult in terms of the environmental factors and talking to parents.
- 30:14Yeah, I think it's a really important issue and something to really think long
- 30:21and hard about is how do we communicate this without scaring parents?
- 30:26They might be worrying every time their kid gets sick, you know,
- 30:29do I need to take him to the hospital?
- 30:31But that's where I think we just need more.
- 30:34The science isn't there yet, if I'm honest, in terms of that we don't have an intervention.
- 30:40We don't know what the strong environmental risk factors are,
- 30:43but we could tell parents their kid has an increased risk, but then what do
- 30:46they do with that information?
- 30:48Yeah, I'm happy to debate more over coffee or wine later.
- 30:53It won't be, just a solution. Discuss.
- 30:58Thank you. Thanks for this presentation. It was amazing. And,
- 31:01you know, we keep reminding ourselves that, you know, we are trying to bring
- 31:05knowledge and knowledge bring questions.
- 31:08And then we have to have this way to deliver back to the community,
- 31:13deliver back to the people who really want to have this knowledge.
- 31:15But with that, we're going to continue the conversation with Dr.
- 31:18Ruiz. Dr. Reese is an assistant professor of pediatrics in the University of
- 31:22Pittsburgh School of Medicine and an attending physician in pediatrics and matology
- 31:26oncology at the UPMC Children's Hospital of Pittsburgh.
- 31:30She is a health service researcher.
- 31:32Researchers investigate the social and structural drivers of health and how
- 31:37they impact access, care, and outcomes in pediatric cancer.
- 31:40She is establishing her research program focused on improving effective caregiver
- 31:45clinician communications in pediatric oncology, just on topic.
- 31:49The research has been funded by the Alex Eliminated Stand Foundation,
- 31:53Conquer Cancer Foundation of ASCO, the Children Cancer Research Fund, and multiple others.
- 31:58Please welcome Dr. Royce. Thank you.
- 32:04Oops. Sorry. Oh, you're fine. Sorry.
- 32:09Fix the microphone. Give me a second. All right. Thank you so much for the introduction.
- 32:14I would also like to thank the conference committee for the invitation to speak today.
- 32:18My talk today is titled Language and Outcomes in Pediatric Cancer Care.
- 32:23And I agree that was a great segue in terms of the communication question.
- 32:27I have no disclosures today. Brief outline of my talks.
- 32:30I will start with my research journey and overall broad goals,
- 32:33then move on to language and pediatric oncology background.
- 32:37I will then present a qualitative research project and then move on to a quantitative
- 32:41research project and end with a summary.
- 32:45In terms of my research journey and goals. So my personal research journey,
- 32:49so I'm a daughter of immigrants.
- 32:50My parents grew up in central Mexico in a small little town where poverty was
- 32:54rampant and they moved to Southern California in the late 80s.
- 32:58That's where I was born and raised with my siblings and my extended family.
- 33:01I grew up speaking Spanish as my first language and early in school I was in
- 33:06English as second language classes.
- 33:07My grandfather and also my extended family had renal disease,
- 33:11and he ended up on dialysis.
- 33:13And thankfully, he was able to get a renal transplant. And with that,
- 33:16I was in high school, and I would often take him to the clinics.
- 33:19And I saw that he was not offered an interpreter. And in fact,
- 33:22the doctors asked me to be the interpreter, 16-year-old who had no medical knowledge or anything.
- 33:27So you can imagine how that went. But this really was my first exposure to medicine.
- 33:31And I thought, well, if this is medicine, I can probably do this better and have a bigger impact.
- 33:37And so with that, I was pre-med. I was first in my family to go personally medicine
- 33:41at Columbia University in New York City.
- 33:43And it was during college where my baby cousin, this is a photo a couple of
- 33:47years after she was diagnosed with infant leukemia.
- 33:49I was in college, so every time I would go back to California, I would visit her.
- 33:53And, you know, my aunt and my uncle, also primarily Spanish speaking,
- 33:57I saw how there were certain doctors who were able to connect with them because
- 34:01they were bilingual and how there were other doctors that were using very complicated
- 34:04language and they would not understand And the treatment plan,
- 34:07the long-term follow-up, and even now in survivorship, she is now 17,
- 34:11so she is a survivor and a thriver.
- 34:13But still, they have many questions about those long-term complications.
- 34:17So my lived experience has influenced my broad research goals.
- 34:21As mentioned, my goal is to evaluate the impact of social and structural drivers
- 34:24of health on pediatric cancer access care and outcomes.
- 34:28My focus right now is effective caregiver-clinician communication with interest
- 34:32in families who speak languages other than English.
- 34:35And the bigger goal is to develop multi-level interventions to make sure that
- 34:38we're promoting equitable cancer care for all children.
- 34:42That, I'm going to move on to the background on language and pediatric oncology.
- 34:45So as mentioned in the previous lecture, despite advancements,
- 34:48there are still ethnic disparities in cancer survival.
- 34:50As mentioned, we know that ALL has the highest incidence in Hispanic Latino
- 34:54children, and the disparities in ALL survival have been reported in the 1980s
- 34:58and have continued and persisted in the 2000s.
- 35:01Specifically, there's an 11 percentage point difference where Hispanic children
- 35:05with ALL have worse survival compared to non-Hispanic white children.
- 35:08So with these differences, you know, there's a really urgent need to investigate
- 35:12other intersecting social drivers of health, such as language and English,
- 35:15which is why I'm particularly interested in that communication between the family and medical team.
- 35:20Some data in terms of linguistic diversity in the United States.
- 35:23So we know that there are over 27 million people that identify as limited English
- 35:27proficiency in the U.S. census.
- 35:29Of these, 63% speak Spanish as the primary language.
- 35:34And we also know more recent data that more than 26 percent of children in the
- 35:38United States are children in immigrant households.
- 35:42What are our language access laws and policies? So going back to the Civil Rights
- 35:46Act, this prohibits the recipient of federal funding from discriminating against
- 35:50individuals because of race, color, or national origin, and this incorporates
- 35:53language in that part as well.
- 35:55And more recently, Section 1557 of the Affordable Care Act reinforces these
- 35:59language services as a fundamental right.
- 36:01Specifically, the language-assisted service requirements need to be free of charge, accurate.
- 36:07Protect privacy and independent decision-making of the individual with LAP, and also, importantly,
- 36:13cannot rely on staff other than qualified interpreters and also prohibits the
- 36:18use of minors and or accompanying adults as interpreters or translators except in emergencies.
- 36:24So how are we doing in pediatric oncology with language access?
- 36:28Here I bring up two studies on clinical trials and language in pediatric oncology.
- 36:34I did a study looking at pediatric phase one and two studies that are listed
- 36:38on clinicaltrials.gov and only 4% reported, explicitly reported language requirements.
- 36:45And I was involved in another study with the Children's Oncology Group Language Equity Working Group,
- 36:50where we surveyed all the COG sites in the United States, and 47% of the respondents
- 36:56reported that somewhat or very difficult to recruit patients with LAP or speak
- 37:01other languages other than English.
- 37:02There is an older study back in 2003 where they actually used audio recordings,
- 37:08for newly diagnosed BALL, and they had Spanish-speaking families and English-speaking families.
- 37:13And from those audio recordings, we learned that oncologists provided leukemia
- 37:17treatment details only 65% of the time for the Spanish-speaking families compared
- 37:21to 71% of the time for the English-speaking families.
- 37:24And we also, from these audio recordings, learned that 50% less questions were
- 37:29asked by parents who, in this case, were Spanish-speaking compared to the English-speaking parents.
- 37:35There are other studies looking at challenges in cancer care.
- 37:38So a survey from 2006, they found that Spanish-speaking caregivers reported
- 37:42comprehension difficulties related to the interpretive process.
- 37:45And then 10 years later, a different survey, more than 25 percent of the Spanish-speaking
- 37:49caregivers reported difficulty communicating with physicians,
- 37:51and over 30 percent reported difficulty communicating with support staff, such as nurses.
- 37:56So with all this data, I was very interested in trying to capture more in-detailed
- 38:01information from the actual Spanish speaking caregivers that maybe we could
- 38:07not capture from these surveys.
- 38:09And that takes me to the first study that I will talk about as my qualitative research study.
- 38:13So the objective was to understand Spanish speaking caregivers' communication
- 38:17experiences with the medical team at the time of that new diagnosis and to identify
- 38:21strategies to improve communication.
- 38:23My growing research team here included Elizabeth Contertas, who is a graduate
- 38:27student in the education program at the University of Pittsburgh,
- 38:29and Alejandra Corbello-Paz, who is now a third-year medical student at the University
- 38:33of Pittsburgh School of Medicine.
- 38:35Both of them are Latina and bilingual, which is a huge asset to my research team.
- 38:39So the significance of this project really our hope is to identify areas of
- 38:42strengths and opportunities related to effective caregiver clinician communication
- 38:45directly from the Spanish-speaking caregivers.
- 38:48The inclusion criteria included Spanish-speaking caregivers of children with
- 38:51cancer who were diagnosed in the last 10 years, either where I work at the Children's
- 38:55Hospital of Pittsburgh or where my collaborator works at the Children's Hospital
- 38:59of Orange County in California.
- 39:01Caregivers needed to be adults and needed to be present during the initial oncologic
- 39:05diagnosis conversation.
- 39:07So the interviews were conducted by my bilingual research team.
- 39:10They were all recorded and transcribed either in phone or in person,
- 39:13and the participants received a gift card at the end for participating.
- 39:17Some of the topics of the interview guide, the perceptions of that initial diagnosis
- 39:21conversation, methods for methods participants sought information regarding
- 39:25the diagnosis outside of just the
- 39:27doctors, and suggestions for improving communication for future families.
- 39:32Terms of data analysis, a preliminary codebook was created inductively.
- 39:36Transcripts were analyzed by two coders separately and then met to compare the codes.
- 39:40We kept refining the codebook systematically and iteratively.
- 39:43Once the thematic saturation was reached, we developed a final codebook,
- 39:47which was then reapplied to all the transcripts.
- 39:49We identified themes and patterns, and we used NVivo to store and organize all the data.
- 39:53So we have, in terms of results, we did 11 interviews.
- 39:57100% of them were with the mothers. The average age of these mothers was 41,
- 40:02although there was a range of 22 to 56.
- 40:05Not surprising, the most common cancer diagnosis of the child was leukemia at
- 40:0873%, although we did have also sarcomas and brain tumors.
- 40:12The most common country of origin of the caregiver was Mexico at 82%.
- 40:16In terms of the average years in the United States, that was 17,
- 40:19but also a very broad range between 2 to 36.
- 40:22And the highest level education was a high school graduate or less at 91%.
- 40:27So I'm going to highlight a couple of themes. One of them was variable interpreter
- 40:30access, as well as the emotional response to diagnosis.
- 40:34Additionally, divergent comfort levels with asking questions.
- 40:37And finally, how families are establishing therapeutic relationships with the medical team.
- 40:42So I'm going to highlight some key quotes that really talk to these themes.
- 40:47So I have a couple for variable interpreter access.
- 40:50So even in the 2000s, 2020s, families being used as ad hoc interpreters.
- 40:56So here the mom said, my sister, she speaks Spanish and English.
- 41:01They told her we found cancer.
- 41:05Here's another example where the mom didn't find any bilingual staff within
- 41:09the hospital, but once they moved the child to the ambulance,
- 41:12she saw that the ambulance, one of the ambulance drivers was bilingual.
- 41:16So she said in the ambulance, the man in charge, he spoke Spanish very well.
- 41:20And I asked him if he could give me an idea of how serious this was.
- 41:25So you can just imagine how, you know, they've been told you have to be transferred
- 41:28to a pediatric hospital because there's something wrong and she doesn't understand.
- 41:32Answer. She's asking the ambulance driver.
- 41:35There was also several instances where the actual patient who,
- 41:39this teenager, so a 17-year-old who's bilingual, is being asked to interpret
- 41:44his own abnormal blood results.
- 41:46So the mama is explaining how the doctor was saying, I found something in your
- 41:50blood and I don't like it, she tells him.
- 41:53I'm very surprised at the level you have. It's a lot.
- 41:56The interviewer asked the mom, is the doctor speaking to you or more to your
- 42:00son, and in English or Spanish.
- 42:03So then the mom says the doctor was speaking to him in English.
- 42:06So again, if you remember from the previous slides, this is not supposed to be allowed.
- 42:11The patient, a minor, should not be interpreting unless it's an emergency.
- 42:15And the fact that he's talking makes me assume this is not an emergency.
- 42:19There was also several instances where caregivers mentioned incomplete interpretation.
- 42:23So here a mom says we have conversations that they also, So we have conversations
- 42:28that they also translate both in person or in videos.
- 42:31Then my son tells me, Ma, they didn't tell you everything.
- 42:35While they translate it, I don't know if they're telling you everything.
- 42:38So I think as a lot of clinicians, we know that sometimes the interpreter is
- 42:42not saying everything either from the clinician or from the family.
- 42:45The families are also picking it up.
- 42:48Emotional response to diagnosis was seen in all the interviews.
- 42:50A lot of them spoke about their own emotions as caregivers.
- 42:54So here, one caregiver says, when they gave us the news, we felt really bad
- 42:58because in my country, when we hear about this disease, for us,
- 43:01it means that it is no solution. A couple also mentioned the child's emotions.
- 43:05So here a caregiver says, she heard it, that she has cancer.
- 43:08She cried. And from there I saw the agony began.
- 43:12There was a lot of instances where caregivers brought up asking questions.
- 43:17Here's a quote where one caregiver said, sometimes I felt embarrassed to ask
- 43:21questions because I didn't know English.
- 43:24Here, one says, I know they explained to me, but I had more questions,
- 43:28yet because of time, because of the emergency, I couldn't ask any more questions.
- 43:34Here's a very powerful quote where the caregiver describes kind of the clinician
- 43:39giving them permission to ask questions.
- 43:41So she states, they were very good because they told me, you can ask us as many
- 43:45times as you want, any questions you have, ask us.
- 43:48We will answer them for you five times, ten times, as many as you have,
- 43:52and we will answer them for you, and well, the truth is, they were very kind.
- 43:57And along those lines, in terms of establishing those therapeutic relationships
- 44:01with the medical team, another caregiver said, We saw how they cared,
- 44:05how they attended to us, and above all, the empathy. That is very important.
- 44:10Caregivers also provided several recommendations for us to improve that communication
- 44:15at the time my diagnosis.
- 44:16They want more bilingual clinicians. They want in-person interpreters.
- 44:20They want detailed explanations, and they want the medical team to take perspective taking.
- 44:26So some illustrative quotes. So if we speak Spanish, find doctors who speak
- 44:30Spanish so that one can understand.
- 44:33Try to find an interpreter who speaks
- 44:34Spanish or a doctor who can give the diagnosis in the same language.
- 44:38In terms of quotes for detailed explanations, that they tell me but explain
- 44:42well, look, your daughter has this and this, but we will resolve this with the
- 44:46medication or we will do this.
- 44:48Another caregiver said, I think that sometimes there's a need for a group where
- 44:52parents, we are offered a little
- 44:54more information in our language with simpler terms to understand it.
- 44:59And then perspective taking, a caregiver said, because sometimes I do feel that
- 45:03it is also something good for doctors to put themselves in the parents' shoes,
- 45:06because when someone is going through that, it is very hard.
- 45:10So some conclusions from this qualitative study. So again, even in the 2020s,
- 45:15caregivers experienced variable interpreter access and accuracy.
- 45:19There's a very strong emotional response with the new pediatric cancer diagnosis,
- 45:22and the medical team needs to know how to acknowledge it and address this.
- 45:26And the oncologists need to encourage and normalize question asking for all families.
- 45:31And obviously, there's still a very huge need for bilingual skills in medicine.
- 45:35With that, I'm going to move on to a different study, a more quantitative research project.
- 45:39So the specific aims for this study was to examine the association between preferred
- 45:43language and high acuity in children with acute myeloid leukemia at time of
- 45:47diagnosis at the first presentation to the hospital.
- 45:50And the second aim was to examine the association between preferred language
- 45:53and intensive care unit or ICU level care during the first cycle of therapy
- 45:58in children with AML, knowing that all of these children are hospitalized for that whole first cycle.
- 46:04So that kind of takes away the access to health care into the equation.
- 46:09And I hypothesize that speaking languages other than English for this study,
- 46:14specifically Spanish, would be associated with high acuity representation as
- 46:17well as ICU level care during the first cycle.
- 46:19This study was funded by the Concord Cancer ASCO Foundation through Young Investigator Award.
- 46:23So the data source is the real AML cohort.
- 46:27So pediatric AML is a very rare disease. So, for example, in Pittsburgh,
- 46:31we have over 200 cancer diagnoses.
- 46:33But only three or four are pediatric AML. So we can't really do single-center
- 46:38studies, so we need to collaborate with other institutions. So when I was in
- 46:42Philadelphia for my fellowship, Dr.
- 46:44Richard Afflitz was one of my mentors, and he, along with Dr.
- 46:48Kelly Goetz, created this real AML cohort where multiple institutions are contributing
- 46:53the patient's data for us to then be able to ask really rigorous epidemiological research questions.
- 47:00So from my study, it was eight institutions who contributed data and my data
- 47:04set was from January 2011 to October 2023.
- 47:09Bit more details about how we get this data from the different institutions.
- 47:14So again, multiple institutions, they identify the patients who have AML,
- 47:18and then they send that information to the Children's Hospital of Philadelphia,
- 47:22University of Pennsylvania.
- 47:23There's a very rigorous training to abstract the data and make sure that there's
- 47:29quality testing for this abstraction.
- 47:31And then there's a lot of data quality checks, as well as data issue resolutions.
- 47:36The team then freezes the data at different intervals. And then this allows
- 47:40us to have an extended data linkage to other national databases and then be
- 47:46able to then make multiple analytic data sets depending on the questions we have.
- 47:50So for my study, my primary exposure was a combination of race and ethnicity
- 47:54along with the preferred language.
- 47:56And my two outcomes that I looked at was high acuity, which we defined as having
- 48:01at least two or more organ systems requiring that ICU level care during the
- 48:06first 72 hours of that initial admission.
- 48:09And then my other outcome was any ICU-level care during that first cycle of treatment.
- 48:15Covariates that I looked at included age, sex, insurance, year of diagnosis,
- 48:20risk classification, as well as trial enrollment status.
- 48:23So in terms of statistical analysis, the covariates were compared by exposure.
- 48:28I performed unadjusted and adjusted regression models, either logistic or log
- 48:33binomial, depending on our outcome.
- 48:35And then all of this was done on Stata.
- 48:38For the results, so the entire cohort, I don't.
- 48:42Had 479 AML patients. Of these, 210 were non-Hispanic white English-speaking,
- 48:50which was the preference group for this study.
- 48:52And then the population that I was interested in are Hispanic Spanish-speaking
- 48:55patients. We had 50 of those.
- 48:58We also had 79 who were Hispanic English-speaking patients.
- 49:03And then we looked at non-Hispanic Black English speakers, which was 86,
- 49:07and non-Hispanic other English speakers, which was 55.
- 49:10So then we looked at by the age when they were diagnosed by all these categories.
- 49:15So there wasn't any major differences
- 49:18between the age at that time of diagnosis for these categories.
- 49:22We also looked at sex. So whether we saw that for females, there was an outlier
- 49:28where the Hispanic Spanish speaking group, there were less females compared to the other groups.
- 49:33We also looked at insurance, whether they had any private insurance or only public insurance.
- 49:39This was also, we found a statistical significance between the groups.
- 49:43And to take that into our analysis, I pulled out only the patients who had public
- 49:50insurance, since we know oftentimes that can be a proxy for access to health care.
- 49:56And then I looked at trial enrollment, which was looking at to see if they were
- 50:00enrolled on an open clinical trial during their treatment or not.
- 50:03And then I also looked at years of diagnosis, which was not different between the groups.
- 50:08And finally, we also looked at risk classification, whether they were low-risk,
- 50:12AML, intermediate, or high.
- 50:13And this also, we did not find any statistical significance between the groups.
- 50:18But when we look at our actual outcomes of interest, so this is looking at the
- 50:23point estimates of those outcomes for only the kids that have public insurance.
- 50:28So for the high-acuity presentation, that first 72 hours, we see that 16% of
- 50:35the Hispanic Spanish-speaking patients are presenting with high acuity, which is...
- 50:42Double digits, and you can see from the other groups, they're all in the single digits.
- 50:47And then our second outcome was any ICU-level care during that first cycle of treatment.
- 50:52And again, you can see in our Hispanic-Spanish-speaking group,
- 50:55it's at 54%, where the rest are around the 30s, with the exception of the non-Hispanic
- 51:00other English-speaking.
- 51:02So these are just the point estimates. And then I did the regression analysis.
- 51:08So going back to our first outcome, high acuity at presentation for patients with public insurance.
- 51:14You can see that in an unadjusted as well as an adjusted models,
- 51:18Hispanic, Spanish-speaking patients had higher than four times higher odds of...
- 51:26Having high acuity at presentation compared to our non-Hispanic white English-speaking patients.
- 51:31And the rest of the groups did not have, and that was statistically significant,
- 51:36while the rest of the groups, we did not have statistical significance.
- 51:39And then when we looked at ICU-level care for patients with public insurance,
- 51:44we also, for the Hispanic Spanish-speaking, we saw that in our adjusted model
- 51:49for adjusted for age and sex, the risk ratio was almost two times higher for
- 51:54Hispanic Spanish-speaking patients compared to their non-Hispanic white English speaking.
- 51:58And again, this was statistically significant while the rest of the other groups were not.
- 52:03There are, of course, limitations to the study. You know, language is captured
- 52:07by the electronic medical record, and that's per individual institutional standards.
- 52:13There is no information in this study regarding access to medical interpreters
- 52:17or use of medical interpreters.
- 52:19And as mentioned before, language is only one of many social drivers,
- 52:22which in combination with biology need to be further investigated.
- 52:25To understand and intervene.
- 52:27So conclusions of this quantitative study, compared to non-Hispanic white English-speaking
- 52:31patients, Hispanic Spanish-speaking AML patients are both significantly more
- 52:35likely to have high acuity at presentation and higher ICU-level care needs.
- 52:40Interestingly, Hispanic English-speaking patients did not show this difference,
- 52:44supporting our hypothesis that speaking language other than English,
- 52:47in this case for the study Spanish, is a risk factor for early morbidity.
- 52:52We clearly need more research on interpreter use and family-centered communication
- 52:56for oncology families that speak languages other than English.
- 52:59To summarize the two studies, so language access is mandated by law,
- 53:04and I think we can all try to be advocates in our clinics and our hospitals
- 53:08and institutions and our companies to ensure that we are providing interpretation
- 53:13and translation for all our families.
- 53:15Outcome disparities based on
- 53:16language and other social drivers of health exist in pediatric oncology.
- 53:20And finally, we should strive to partner with medical interpreters for families
- 53:23who speak language of Southern English for every clinical encounter for cancer care.
- 53:26And with that, I'd like to acknowledge all my mentors, both in Pittsburgh and
- 53:30in Philadelphia, as well as my growing research team and all the funding support
- 53:33that I've been fortunate to have.
- 53:36And finally, huge thanks to the patients, caregivers, and families who participate
- 53:39in our studies. I'm happy to take questions and also move on to the panel part of this.
- 53:49Hi, thank you. This question is actually for both doctors.
- 53:53So I'm a survivor. I'm a patient advocate. I'm a survivor for AML.
- 53:58And the fact that you both are targeting AML, is there any statistics or studies
- 54:04that you have done for Latino patients that their parents had AML, but it's not heritary?
- 54:12Is there something out there for Latinos that they are aware that even though
- 54:18the parents had AML, they are not going to get it or a third or four generations can get it?
- 54:24Is there any literature or any statistics for them?
- 54:28And the second question would be, if there is, what can we as patient advocates,
- 54:34how can we communicate this to our communities?
- 54:41I'm not a medical doctor, so I differ. I can take a stab at it. Sure.
- 54:48So the majority of pediatric AML is extremely rare and is not inherited.
- 54:53There are certain genetic predispositions where the gene is passed down from
- 54:59family to family member to family member.
- 55:01And that's a very different population compared to the majority of pediatric
- 55:05AML. In terms of specific studies within the Latino population,
- 55:09I don't know any at the top of my head.
- 55:12But for pediatrics compared to adult cancers, most of it is extremely rare and
- 55:17is not passed down. It's not inherited.
- 55:20Thank you. And the reason why I was saying is because the more I advocate for
- 55:24leukemia, for AML, and within our community, there's not enough.
- 55:29And this is probably raising my voice saying that if you guys are doing for
- 55:34children, to raise it up.
- 55:36Because it's insane how the more I speak on it and the more I approach, there's barely few.
- 55:43And even to explain to a child that they had AML.
- 55:47The literature is very limited in our community.
- 55:54So thank you. Thank you for sharing that. I completely agree that we need to do more studies.
- 55:59Hi, Ian. Thank you, guys, Ian. And my question was if there's any data that
- 56:05can compare, you know, patients that might have missed appointments,
- 56:09treatments, or even the choice of treatment, depending on, like, the stage.
- 56:14Like people with language barrier or not
- 56:17like limited access to interpreters from those
- 56:20that you know do speak english yeah yeah no
- 56:23i do think a lot so once you get into the
- 56:26system of a pediatric oncology hospital it's extremely
- 56:30rare that you will not like you will come to the appointments because your life
- 56:33depends on it and everyone there's a whole large multidisciplinary team to ensure
- 56:38that if you don't have a car we'll find transportation for you so all of that
- 56:43is set up in the pediatric cancer center once you get into the system.
- 56:46I think you're also kind of alluding to what about before, right?
- 56:50So are the patients going to their pediatrician on a regular basis?
- 56:56Are they having, when they get sick, are they going to see their doctor when
- 57:00they're getting sick now four or five times?
- 57:02Clearly something is wrong and maybe we should start thinking about cancer as a possible diagnosis.
- 57:07So that's pre the actual cancer diagnosis and I think also plays a huge role
- 57:11in terms of other social drivers of health and making sure like mentioned earlier
- 57:15not getting super super sick that now you end up in the icu when we could have
- 57:20caught it earlier if they had seen their doctors and someone had done the blood
- 57:23tests earlier absolutely.
- 57:26Forget the second part was something about interpreters well yeah so yeah just
- 57:31comparing yeah so like the people who do not have yeah access to the interpreter
- 57:37no that's a great question,
- 57:40is actually a feature direction of some of my studies to capture.
- 57:43We actually don't know for families who don't speak English,
- 57:46what types of interpreters are being used. Are they in person?
- 57:49Are they over the phone? Are they the video?
- 57:51And so one of my ongoing studies is to actually capture that data.
- 57:55Who are we using for interpretation?
- 57:57And what training do they have? What experience do they have within pediatric oncology?
- 58:01Because I think all of that will play a role into how they become part of the
- 58:05medical team and interpret for the families and the doctors. Absolutely.
- 58:10Thank you. I want to just say thank you to everyone also, because I clearly
- 58:13have a child who wanted to had questions
- 58:15in the middle of both of your presentations. So sorry about that.
- 58:18I wanted to come back because I truly valued what you found in the 2020s,
- 58:23since we know so much in that qualitative study has been repeated and repeated in there.
- 58:28And I was wondering if you would be able to share a little bit about the facility context, right?
- 58:34Because so often we focus on the clinician, but who the clinician,
- 58:38who hires the clinician, right?
- 58:39And who hires the team and whether it's, yo lo sé papi, deme.
- 58:43I think that where I'm getting at here, right, is that non-academic safety net
- 58:47systems, they actually have a full variety of multilingual teams that are available.
- 58:52What they don't have is necessarily access to clinical expertise to be able
- 58:56to do that specialty care as well.
- 58:58Right. And so really this conversation around linguistic disparities to your
- 59:02interest and your passion around structure really incorporates the facility.
- 59:07Like, does the facility actually have a barrier, represent barriers linguistically,
- 59:12or is it a facility problem? That's really my question, part one.
- 59:16And then, two, and I know you get this often, so I'm just going to throw it
- 59:19out there, but just putting it out there.
- 59:20I think in line with that, the facilities that are highly resourced,
- 59:25right, because of the patient population that they naturally have,
- 59:29which influences the kind of clinical representation they have for trials, right,
- 59:32they potentially value less interpretation in terms of using phone-based interpreters,
- 59:38right, or using the dial-in number or things like that because that's cost-effective for them, right?
- 59:42And that means that they rely specifically on exact translation.
- 59:47Which we know is a challenge. We know the value of exact translation.
- 59:50We know the problem. Our metaphors are different. Our analogies are different.
- 59:53How we communicate, even if you're talking at a fifth grade level in English, it is challenging.
- 59:58Martian, right, in Spanish, right? So I just, I would love your reflection on
- 1:00:02the facility context where you're leading your past work, but your current work,
- 1:00:06and how you're incorporating these facility level challenges,
- 1:00:09right, that really then feed into the relationship and then influence really
- 1:00:13the workforce that we need to be investing in.
- 1:00:16Pick one of those things, whatever that is.
- 1:00:19No, absolutely. I do think, like you mentioned, facilities, the country is very
- 1:00:25heterogeneous, The resources are very heterogeneous.
- 1:00:28I've now been at three hospitals, so I've actually seen it, you know,
- 1:00:31from very urban to now have a population where it's mostly rural.
- 1:00:35My current institution actually does not have a language services department,
- 1:00:39right? We don't have in-person interpreters.
- 1:00:41We have to make an appointment with them from an outsourced company for them
- 1:00:45to then come in versus my other institutions. They have in-person interpreters.
- 1:00:50They're already on site. It's easy to call them. So yes, I think that plays a huge role.
- 1:00:55And I think, you know, I'm starting the study in Pittsburgh,
- 1:00:59but I'm hoping to then be able to move it to multi-sites to really get into
- 1:01:02that in terms of the types of interpreters.
- 1:01:05And maybe we don't need that in-person interpreter for everything,
- 1:01:08but we don't know that yet, right?
- 1:01:10So I'm hoping to be able to capture that data, to be able to make recommendations based on evidence.
- 1:01:15And then in terms of resources, absolutely.
- 1:01:19I know that some really high-resourced children's hospitals,
- 1:01:24they have the money to have the in-person interpreters and even dedicated pediatric
- 1:01:29oncology interpreters. So that is their life and world.
- 1:01:32They know the lingo. They've done it so many times.
- 1:01:34I would love for all children's hospitals to have that, right?
- 1:01:38But we can't. They don't have the resources.
- 1:01:40But what can we learn from them,
- 1:01:41that they're doing well, that we can potentially adapt for other sites?
- 1:01:46Is there somebody up here? Yes.
- 1:01:50Thank you both for the amazing presentation. So I guess first I have a question for Dr. Ruiz.
- 1:01:55So when we're thinking about language and I guess like no pun intended,
- 1:01:59some of the language that you had in the last slide mentioned language as a
- 1:02:02driver of social determinants to help but also as a risk factor.
- 1:02:06I'm just curious, what do you think that we're actually capturing when we say
- 1:02:10we have an Hispanic and Latino that only speaks Spanish?
- 1:02:13Like what else comes with that label that we're assigning?
- 1:02:17We've done analysis looking at nativity, for example, looking at ethnic and
- 1:02:20click resonance, thinking of if we were to change, have the interpreters available,
- 1:02:26what else is it that that variable is capturing that we would need to intervene
- 1:02:30to actually improve the outcomes of that specific person.
- 1:02:34If I understand your question correctly, essentially, what other risk factors
- 1:02:39or drivers do we need to take into account, especially for families who don't
- 1:02:42speak, who are Spanish-speaking, Latino? Is that right?
- 1:02:46Yeah. What else is associated or correlated with that specific exposure? Okay.
- 1:02:53Because just by changing the language alone, it might not be enough to actually impact the outcome.
- 1:02:58Right, right. And, you know, with Dr. Dismith's talk, there's a lot of genetics
- 1:03:02involved as well. I'm not saying that only changing the interpreter access will
- 1:03:07change outcomes. Obviously, we need to have multilevel interventions coming
- 1:03:11from different directions.
- 1:03:13Some of my studies are capturing, you know, oftentimes we think about other
- 1:03:16social drivers, so poverty.
- 1:03:18You know, I have families who don't have cars, who are like single mothers.
- 1:03:25So that information we need to capture so the medical team knows,
- 1:03:29so our social worker knows.
- 1:03:30You know there's a public program that we
- 1:03:33can book you transportation so that's
- 1:03:36not an issue for you to come to clinic right so i think that's a lot we should
- 1:03:41strive to capture a lot of socio-demographic data to be able to then say well
- 1:03:45it's not just a spanish-speaking latino family but is it that they need financial
- 1:03:49support in other ways as an example i believe you have an answer,
- 1:03:55Could I ask that? Yes, please.
- 1:03:57I'm sorry to interrupt you last. No, can I quickly follow on your question? Yes, please.
- 1:04:04This is also getting back to your earlier point. I had assumed,
- 1:04:08probably because I'm not a medical doctor, that with acute leukemia,
- 1:04:11when the symptoms start to show,
- 1:04:14pretty quickly the parents would realize something is really wrong and they
- 1:04:18would take their child to the doctor.
- 1:04:20Is there any evidence that, for example, the Spanish-speaking Hispanic Latinos,
- 1:04:25there could be factors that cause them to delay going to the doctor?
- 1:04:29For example, immigration issues, right? Fears of, and could that lead to the
- 1:04:33higher acuity issue? Right.
- 1:04:38So I would say in general, for any family, when your child gets sick,
- 1:04:43you're going to be told it's a virus.
- 1:04:46They're fine. Give them Tylenol. And 99% of the time, that's right.
- 1:04:51You know, they get a lot of illnesses. It's part of being a child.
- 1:04:54It then becomes the point where, so sometimes these families have multiple doctor
- 1:04:58visits, multiple ED visits, urgent care visits, before they get to the cancer
- 1:05:03diagnosis, because it is so rare in children.
- 1:05:06So that's normal across any type of family, right?
- 1:05:09But as Dr. Smith mentioned, maybe for Latino families, you know,
- 1:05:14they don't have an established primary care doctor. So they are not going.
- 1:05:18So they're just at home and they're doing, you know, Vaporul, Tylenol, Ibuprofen.
- 1:05:23But they don't have that established relationship with a doctor to be able to
- 1:05:27go and, you know, be examined and notice things sooner compared to a family
- 1:05:31who does have that doctor. and they're like, oh, you're actually really pale
- 1:05:34or actually your heart rate's really high. Well, actually your spleen is really big.
- 1:05:38So those are things that they would pick up on if they're being examined by
- 1:05:41the doctor that would potentially lead to a cancer diagnosis more rapidly than
- 1:05:46families who don't have that doctor. So absolutely.
- 1:05:48So maybe that's where education could come in.
- 1:05:51Yeah, thank you. So for Dr. Smith, summary to you, as you mentioned,
- 1:05:55you were building polygenic risk scores.
- 1:05:57I guess the first question, where are the weights coming from to build those
- 1:06:01polygenic risk scores that then you're going to deploy in Hispanic and Latino populations.
- 1:06:05And then from what I recall, top of my head, there's very few genes that have
- 1:06:09been shown to have a genome association with leukemia.
- 1:06:13I think it's like less than 30, something like that. So how much does the predicted
- 1:06:17ability of the score changes once you add variants that seem to have a higher
- 1:06:20allemic frequency to specific populations as the one you're working with?
- 1:06:27Yeah. So in terms of building the scores, you know, we can typically take,
- 1:06:31if the study is large enough, we can split it into the testing,
- 1:06:36validation, replication phases.
- 1:06:39What's complicated about the Hispanic Latino population is the heterogeneity.
- 1:06:43So that's why it's important for us to expand our studies to populations outside
- 1:06:48of the U.S., I think as well as testing in populations across the U.S.
- 1:06:53So a polygenic risk score developed in California is not going to work the same
- 1:06:57for kids in New York or Florida, right?
- 1:07:01So yeah, that's definitely a work in progress in terms of how do we determine
- 1:07:06the best polygenic risk score.
- 1:07:08It might turn out that a multi-ancestry PRS that actually could work for all
- 1:07:14kids might be the way forward, incorporating some of the population-specific
- 1:07:19alleles like IKZF1 as well as for other populations.
- 1:07:23So does that answer your question?
- 1:07:26Yeah. We can talk about it. Sure.
- 1:07:29Oh, thank you.
- 1:07:33I'm going to go to left field on this, because I've heard this over and over
- 1:07:37for the last two years. AI.
- 1:07:40UCSF did a study survey with Latino patients, half of them English-speaking
- 1:07:46and the others, and for the most part, they said, we heard about this AI.
- 1:07:52Majority of them said, I don't want a robot to decide my treatment. That's very basic.
- 1:07:58How do you, do you use AI?
- 1:08:01How do you use it? Will it move, you know, findings quicker that make a difference,
- 1:08:08a positive difference and make a difference in Latino lives?
- 1:08:12Or do you need to create some primers and teach patients about it,
- 1:08:18how to look for it in their own treatment plans, how to add information that's critical.
- 1:08:25I mean, there are two sides to this coin, but I'm wondering how all you are
- 1:08:28addressing this issue or if
- 1:08:30it's going to make an important positive difference in what you're doing.
- 1:08:34I think just very quickly, we are considering using certain tools for genomic
- 1:08:40analyses to look for patterns of somatic mutations.
- 1:08:43But in terms of treatment plans at NFC.
- 1:08:48Yeah, so thankfully for pediatric cancers, the treatment plans are extremely
- 1:08:53standardized across the country and across the world, honestly.
- 1:08:56So we either use standard of care protocol, which everyone is using,
- 1:08:59or there's an open clinical trial that has a research question to it,
- 1:09:04and they might be eligible for that.
- 1:09:05So I would say the majority of pediatric oncologists are not using AI for upfront treatment decisions.
- 1:09:14Now, when you're getting to relapsed, first relapse, second relapse,
- 1:09:18relapse refractory, now we know that our standard treatments are not working.
- 1:09:23Maybe we can use AI to see what's out in the literature, right?
- 1:09:26But now we're talking about case reports, like two patients here did this,
- 1:09:30five patients here did that, and these are the results.
- 1:09:32So I can definitely see AI being helpful in those situations where we can gather
- 1:09:36data or gather useful, potentially, publications for us to then read it in depth
- 1:09:42to see if it's relevant for that patient.
- 1:09:44I always get the AI question when it comes to interpretation and translation
- 1:09:47because I do think, you know, in the future, it might be a positive thing to add.
- 1:09:53Obviously, it needs a lot of training to be able to do the translation interpretation
- 1:09:59for maybe some routine things like maybe the nurse is asking, do you have pain?
- 1:10:03As opposed to having a whole new diagnosis cancer conversation with AI that
- 1:10:08I think we will always need a human for that.
- 1:10:13Wondered whether there are any clues. I mean, a lot of these studies are still
- 1:10:17quite small, I mean, in terms of the number of cancer cases.
- 1:10:21I wonder if there are any clues that could be drawn out from how they've approached
- 1:10:25this in adult diseases such as cancer,
- 1:10:28such as heart disease, in either developing a PRS or developing a language-based
- 1:10:35approach to interpreting or giving recommendations.
- 1:10:41So I just know that breast cancer, for example,
- 1:10:46heart disease have much greater PRS, which has been associated with the numerous
- 1:10:53loci, which seem to have cropped up recently from GWAS.
- 1:10:58Yeah, one difference is that the adult cancers, typically the effect size of
- 1:11:03those variants are quite small compared to childhood cancers tend to have a stronger effect.
- 1:11:09We think, you know, because in adult cancers, they've had a lifetime or a longer life of exposures.
- 1:11:15So the PRS for childhood ALL may be just as powerful with 25 SNPs as a breast
- 1:11:20cancer PRS with 300 SNPs.
- 1:11:23But no, we definitely do. We are inspired by those larger studies in terms of
- 1:11:28some of the things that we do, you know, oh, you know, we see a paper in prostate
- 1:11:33cancer, we can apply that to childhood ALL.
- 1:11:35So, yeah, it's definitely a good point.
- 1:11:39Well, I'd like to thank you all for being here and asking really great questions
- 1:11:42and for the classical thoughts.