Written By: Raina Lakhani 1,2
Advised By: David An 1,3
Edited By: Juliet Horenziak 1,4
Affiliations:
1. Health Disparities Think Tank, Cambridge, MA, USA
2. University of Delaware, Newark, DE, USA
3. Harvard University, Cambridge, MA
4. Stanford University, Stanford, CA, USA
Background
Nearly four million infants undergo newborn screening (NBS) in the U.S. each year, 12,900 of whom will be diagnosed with one of the debilitating conditions it tests for (Health Resources and Services Administration [HRSA], 2024; U.S. Centers for Disease Control and Prevention [CDC], 2024). NBS is a nationwide program in which all newborns are screened for health conditions such as sickle cell disease, critical congenital heart diseases, and hearing loss (CDC, 2024) . Screening at birth allows for early treatment, which can improve the infant’s survival and long-term health. When it comes to cystic fibrosis (CF), for instance, detection during NBS can add years to a child’s life (“ Newborn Screening for CF”). CF is a genetic disease that progressively damages the respiratory system and other parts of the body through the buildup of thick mucus. Although CF would previously lead to death before adulthood, the average lifespan of people with CF who live to adulthood is now 44 years (Schwartz). This is in large part because NBS has made early detection and treatment widespread.
According to the Cystic Fibrosis Foundation (“Newborn Screening for CF”), CF NBS screening generally involves two components: blood testing and genetic testing. The infant’s blood is first tested for elevated levels of immunoreactive trypsinogen (IRT). While this is a common symptom of CF among infants, elevated IRT levels can also be caused by other factors, so an IRT test alone is not sufficient for diagnosis. If an infant exhibits elevated levels of IRT, a genetic test is done that detects CF-causing mutations in the CFTR gene. An infant with a CF-causing mutation in both of their CFTR genes has CF.
Failures of Newborn Cystic Fibrosis Screening
Though these screenings save lives, they are not without their shortcomings. Approximately 90% of positive CF results are false positives because the child is a cystic fibrosis carrier, meaning they only have one mutated copy of CFTR (National Children’s Hospital). Further testing can confirm that the child is not affected by CF. Because the NBS tests are so sensitive, there is a misconception that receiving a false-negative result is highly unlikely. On the contrary, these occur in 8.9% of negative CF results, often leading to a delay in diagnosis (Taccetti et al., 2020). Later diagnosis is linked to adverse health outcomes such as stunted growth and development, which in turn causes more treatments to be needed in the future that can cost the patient thousands of dollars and negatively impact their quality of life (Martiniano et al., 2023).
False-negative screening results are more likely to occur in some patients than others: With the CF NBS algorithms currently used, 13-16% of Hispanic children, 15-18% of Black American children, 23-28% of Asian children, and 7-8% of Native American children with CF go undetected whereas only 3% of White American children with CF go undetected (Pique et al., 2022).
This disparity has roots in the protocols for IRT and DNA testing, which vary widely from state to state. Some states only test for elevated IRT levels once before using DNA testing to detect known CF-causing CFTR mutations, while others test IRT twice over two weeks before DNA testing is considered. Additionally, some states have a fixed cutoff value to determine exactly how much IRT is considered abnormal while others use a floating cutoff adjusted according to a rolling daily average (Ren et al., 2022). These distinctions may not seem to have much practical importance until racial differences in IRT levels are considered. While the exact cause remains a subject for further study, Black American infants have been found to have the highest mean IRT levels, while Asian American infants have lower IRT levels than White American and Native American infants (Korzeniewski et al., 2011). IRT cutoffs that are determined without considering data from a racially and ethnically diverse set of CF patients could thus disproportionately affect the diagnosis rate of certain minority groups. Indeed, false-negative rates are higher among Asian American and Black infants than in non-Hispanic white infants with the current NBS protocol in California (McGarry et al., 2024).
CFTR mutation panels are similarly discriminatory. While all CF patients will have a mutation on both copies of their CFTR gene, there are numerous ways that the string of nucleotides making up this gene can be altered, many of which are still being discovered (Johns Hopkins Cystic Fibrosis Center). Some states test for exactly one CFTR variant while others test for over 300 (Ren et al., 2022). Unfortunately, many commonly-used CF NBS panels in the US are significantly less likely to detect CFTR variants in newborns of color and Hispanic newborns with CF than their non-Hispanic White American counterparts (Pique et al., 2022; McGarry & McColley., 2021; McGarry et al., 2023). The disparity widens when fewer variants are included on the panel. For instance, “In Georgia, they miss a lot of…Black babies with CF because their newborn screening panel is inadequate for the variance,” Dr. Susanna McColley (S. McColley, personal communication, November 1, 2024), attending physician and researcher in the Cystic Fibrosis Center at Ann & Robert H. Lurie Children's Hospital at Northwestern University, explained in an interview. “The Georgia Chapter of the American Academy of Pediatrics passed a resolution that screening should be equitable.” This occurs because CFTR mutation frequency varies by ancestry, and patients of racial and ethnic minorities are more likely to have undiscovered CFTR mutations that are not included on CFTR panels (McGarry et al., 2023). Because the detection of two CFTR mutations is the final and most definitive test used in NBS, newborns with CFTR mutations that are not on the panel will test negative even if their IRT levels were elevated. This explains why Black American infants who present comparatively high IRT levels also exhibit high rates of false-negative results; with current protocols, their elevated IRT levels, even if they surpass the diagnostic cut-off, are irrelevant if their specific gene variants are not tested for and detected.
The ineffectiveness of diagnostic testing in racial and ethnic minorities may be in part because of the geography where most of the preliminary research in both IRT and CFTR NBS took place: countries with predominantly White populations such as France, England, and Australia. Participants in these studies were therefore predominantly White, so standard protocols like IRT percentiles and CFTR mutation panels were determined with only these populations in mind (Travert & Heeley, 2020). Racial and ethnic minorities see limited inclusion in clinical research related to CF to this day. In 29 clinical trials for CF spanning almost 15 years that reported race and ethnicity, Hispanic, Black Americans, and Asians with CF collectively make up only 5% of participants in CF-related clinical trials even though these groups make up approximately 15% of all individuals with CF (“Addressing Health Inequities”; McGarry & McColley, 2016). As a result, CFTR mutations that are more common in these groups have been less frequently studied, leading researchers to conclude that they are not common enough to be included on CFTR panels.
This racial gap in participation may be exacerbated by the pervasive belief in the healthcare system that only White people can have CF because the majority of patients diagnosed with the disease are White. This false assumption may lead people of color with CF to avoid discussing their symptoms with physicians after other healthcare professionals invalidated or doubted them in the past, and parents of color whose newborn receives false-negative results may be discouraged from investigating it further. For instance, an article by Rita Rubin (2021) describes how a Black man named Terry Wright was not diagnosed with CF until the age of 54–well beyond the average life expectancy of individuals with CF–because physicians couldn’t conceive the notion of a Black man having CF even when the symptoms became obvious. He was finally diagnosed over 15 years later. To prevent others from having similar experiences, Wright went on to found the National Organization of African Americans with Cystic Fibrosis (NOAACF). This organization has since developed a CF screening tool for racial/ethnic minorities and continues to fight the stereotype that CF can only occur in white people.
As a result of underdiagnosis in racial/ethnic minorities, there is less awareness regarding CF in these communities. In a survey she conducted as part of a greater research study, Dr. McColley “asked whether people had heard of cystic fibrosis before taking the survey, and there was a significantly lower rate of recognition in people who identified themselves as being black or Hispanic” (S. McColley, personal communication, November 1, 2024). If newborn screenings don’t detect CF in children of ethnic/racial minorities, their parents don’t realize that their child’s symptoms are typical of CF, and healthcare professionals don’t investigate further, those children can slip through the cracks and suffer worse health outcomes as adults. And if they don’t receive a diagnosis even after passing on CF to their children, the cycle continues.
The shortcomings of CF NBS reinforce the pattern of inequitable respiratory health outcomes that has been present in the United States for decades. For instance, the spirometers used for pulmonary function tests (PFTs) such as FEV1 (the maximum amount of air a patient can exhale in one second) and FVC (the maximum amount of air a patient can exhale after a deep breath) automatically adjusted their results for race along with sex, age, and height until the American Thoracic Society finally advised against it in 2021 (American Thoracic Society). The belief in racial pulmonary capacity differences dates back to the era of slavery in American history when Thomas Jefferson claimed that Black people have lower lung function (Lujan & DiCarlo, 2018). This was spun into justification for slavery by arguing that forced manual labor was necessary to keep blood flowing to the brains of Black people. The belief was then perpetuated by numerous studies until a systematic literature review in 2013 determined these “inherent differences” to be the result of factors other than race, which is not a biological trait. Making PFTs race-neutral has revealed that thousands of Black Americans have been categorized as having less severe lung disease than they actually do, while thousands of White Americans have been categorized as having more severe lung disease than they actually do (Pesheva).
Another contributor to current respiratory health inequities was the 1930s practice of “redlining,” a government-sanctioned practice that denied loans, insurance, and other economic services to residents living in neighborhoods based on what rating the neighborhood received from A-D (Meier & Mitchell). Neighborhoods with the lowest rating of “D” were denoted with a red outline on real estate maps. The letter grade a neighborhood received was determined by investment risk, structural condition, and location–but also by the racial and ethnic groups living there. Historically redlined neighborhoods had the highest proportion of ethnic and racial minorities and are still mostly populated by Black and Hispanic Americans today. These neighborhoods also have higher levels of nitrogen dioxide (NO2) and fine particulate matter (PM2.5) pollution than other neighborhoods, contributing to the disproportionate pollution exposure racial and ethnic minorities experience (Svoboda). In addition, there is a strong association between pollutant exposure and asthma symptom severity among children living in redlined areas (Langowska). Similarly, Dr. McColley finds that “there's an association between air quality and admission to the hospital for a pulmonary exacerbation of CF” in children (S. McColley, personal communication, November 1, 2024).
More recently, historical inequities and systemic racism in healthcare have sown a growing mistrust of the medical system among minority groups that further widens these gaps in health services. During the COVID-19 pandemic, for instance, both England and the USA saw lower vaccination rates in Black and Hispanic populations than in White populations due to vaccine hesitancy; reports early in the pandemic saw that 40% of Black Americans would not receive the vaccine compared to 16% of White Americans (“Fighting for Air”). This may have contributed to higher mortality rates in racial and ethnic minority groups during the pandemic (Artiga et al.). “The lack of trustworthiness by the American healthcare system…contributes to inadequate therapeutic relationships, and that can affect how people take their medicines and how they do or don't show up for appointments,” Dr. McColley (S. McColley, personal communication, November 1, 2024) notes, “But that's on us. That's on the systems that we have developed and the differential treatment that people are given.”
An argument can be made that these disparities in mortality can be attributed to socioeconomic status instead of race and ethnicity. However, research indicates that a disparity exists even after adjustment for socioeconomic status. In fact, pollutant exposure in the United States varies 2.4 times more between White people and people of color than it does between people of color in different socioeconomic groups (Tessum, 2021). While higher socioeconomic status does reduce the risk of chronic lung diseases such as chronic obstructive pulmonary disease (COPD), this risk reduction is significantly greater for non-Hispanic Whites than it is for racial and ethnic minorities. Differences in respiratory health outcomes are thus undeniably impacted by race.
This has alarming implications for CF treatment today. Non-White CF patients have a higher risk of mortality, and being a racial and/or ethnic minority is a risk factor associated with CF-related mortality before the age of 18 (Holland, 2024; McColley, 2017). Neither of these facts is surprising upon examination of the long-term treatment options for CF. For instance, CF modulator therapy works to fight CF from the source by correcting the dysfunctional proteins that are produced by the mutated CFTR genes. However, this is only effective in patients with specific CFTR mutations (“CFTR Modulator Therapies”). Similarly to CFTR NBS panels, mutations that are most common in White patients are overrepresented in this list of qualifying mutations. As a result, only 69.7% of Black/African American patients, 75.6% of Hispanic patients, and 80.5% of other race patients are eligible for any form of CFTR modulator therapy whereas 92.4% of non-Hispanic White patients are eligible (McGarry & McColley, 2021). Looking ahead to more substantial treatment, a similar disparity can be found in lung transplant reception. As damage to the lungs accrues, a lung transplant is often necessary for people with CF. Approximately 10% of people with advanced cystic fibrosis who have not received a transplant die each year, while those who do receive a transplant live an average of 9.9 additional years because of it (“Lung Transplant Today”). Many patients in need of these transplants are children: the most common reason that children are referred for lung transplantation is CF (Benden, 2017). However, the Organ Procurement and Transplant Network (n.d.) reports that there are far more patients in need of lung donations than there are lung donors;. Therefore, patients are prioritized by assigning them a Composite Allocation Score (CAS) using a variety of metrics—for example, whether they are under the age of eighteen—to ensure that those that do receive new lungs are the patients that would benefit the most from those lungs. Even this system, however, doesn’t work for patients of color; non-white transplant candidates are less likely to actually receive a transplant even after risk-adjustment (Mooney et al., 2018). When considering the CAS system, this is unsurprising because one of the primary factors is the patient being under the age of eighteen, and if patients of color go undiagnosed during NBS at a higher rate, they are also more likely to be older than the age of eighteen when they are placed on the recipient list. Compounding this issue, racial and ethnic minorities are more likely to have chronic conditions such as obesity, diabetes, and hypertension that may negatively influence their estimated likelihood of survival after five years (Price et al., 2013). Being diagnosed later and receiving less treatment ultimately sets up non-White CF patients for higher mortality rates.
This complex problem requires a complex set of solutions. To address false-negatives caused by IRT cutoffs, simply lowering the cutoffs would lead to far more genetic testing without improving detection in a significant way (Martiniano et al., 2021). An alternative method that has proven more effective is the practice of using floating cutoffs (Ostrav). This method both accounts for natural fluctuations in average IRT levels that may occur year to year and ensures inclusivity in areas with diverse populations because the data of all infants influences the cutoff. However, improving CFTR variant detection is more critical to ensuring equitable diagnosis than improving the accuracy of IRT screening. Increasing the number of variants on NBS panels throughout the country initially seems to yield promising results (McGarry et al., 2024), but the sheer number of CFTR variants that exist limits the effectiveness of this strategy. In fact, this method has yet to demonstrate improvements in variant detection for Native American infants at all (McGarry et al., 2024). To circumvent this problem, it may be worth emulating the vanguard of CF screening: California. California’s robust NBS protocol was updated recently to include three phases instead of two: an IRT level test, a CFTR variant panel if elevated IRT levels are found, and CFTR sequencing if only one CFTR variant is identified. CFTR panels scan for a very specific list of nucleotide sequences that could result from an altered CFTR gene, so this list only represents a small fraction of the CF-causing mutations that exist. Sequencing, in contrast, actually records the sequence of nucleotides present in an infant’s CFTR gene, which can then be compared to a functional CFTR gene’s nucleotides to detect any and all mutations that could possibly be present. This could help close the gap between diagnosis of White and non-White infants. Dr. McColley has observed that when only one gene variant is detected on the NBS panel, which is more common in minority populations, the child is often not tested further until much later, if at all. It’s especially unlikely that the child will undergo further testing if they belong to a racial or ethnic minority because of the bias against CF diagnosis in these populations.
Currently, the state is considering the use of next-generation sequencing (NGS), a method that would enable physicians to screen many infants via sequencing very quickly (Ostrav). NGS is particularly useful for large-scale testing because it allows many genes to be sequenced very quickly. While expenses currently prevent NGS from being used for newborn screening, the costs of NGS have been steadily dropping since 2018 in a pattern that suggests this strategy will be viable in the near future (Wetterstrand).
The racial and ethnic disparities in CF NBS accuracy is a pervasive problem in the United States that is deeply rooted in systemic and historical racism. However, there’s huge room for improvement if current procedures continue to be modified with inclusivity in mind and novel screening methods are clinically tested to fill in the gaps of the ones currently in common use. “The overarching goal is that every baby gets their diagnosis as quickly as possible, and that everybody with CF gets detected”, Dr. McColley declares (S. McColley, personal communication, November 1, 2024).
Solutions
This complex problem requires a complex set of solutions. To address false-negatives caused by IRT cutoffs, simply lowering the cutoffs would lead to far more genetic testing without improving detection in a significant way (Martiniano et al., 2021). An alternative method that has proven more effective is the practice of using floating cutoffs (Ostrav). This method both accounts for natural fluctuations in average IRT levels that may occur year to year and ensures inclusivity in areas with diverse populations because the data of all infants influences the cutoff. However, improving CFTR variant detection is more critical to ensuring equitable diagnosis than improving the accuracy of IRT screening. Increasing the number of variants on NBS panels throughout the country initially seems to yield promising results (McGarry et al., 2024), but the sheer number of CFTR variants that exist limits the effectiveness of this strategy. In fact, this method has yet to demonstrate improvements in variant detection for Native American infants at all (McGarry et al., 2024). To circumvent this problem, it may be worth emulating the vanguard of CF screening: California. California’s robust NBS protocol was updated recently to include three phases instead of two: an IRT level test, a CFTR variant panel if elevated IRT levels are found, and CFTR sequencing if only one CFTR variant is identified. CFTR panels scan for a very specific list of nucleotide sequences that could result from an altered CFTR gene, so this list only represents a small fraction of the CF-causing mutations that exist. Sequencing, in contrast, actually records the sequence of nucleotides present in an infant’s CFTR gene, which can then be compared to a functional CFTR gene’s nucleotides to detect any and all mutations that could possibly be present. This could help close the gap between diagnosis of White and non-White infants. Dr. McColley has observed that when only one gene variant is detected on the NBS panel, which is more common in minority populations, the child is often not tested further until much later, if at all. It’s especially unlikely that the child will undergo further testing if they belong to a racial or ethnic minority because of the bias against CF diagnosis in these populations.
Currently, the state is considering the use of next-generation sequencing (NGS), a method that would enable physicians to screen many infants via sequencing very quickly (Ostrav). NGS is particularly useful for large-scale testing because it allows many genes to be sequenced very quickly. While expenses currently prevent NGS from being used for newborn screening, the costs of NGS have been steadily dropping since 2018 in a pattern that suggests this strategy will be viable in the near future (Wetterstrand).
The racial and ethnic disparities in CF NBS accuracy is a pervasive problem in the United States that is deeply rooted in systemic and historical racism. However, there’s huge room for improvement if current procedures continue to be modified with inclusivity in mind and novel screening methods are clinically tested to fill in the gaps of the ones currently in common use. “The overarching goal is that every baby gets their diagnosis as quickly as possible, and that everybody with CF gets detected”, Dr. McColley declares (S. McColley, personal communication, November 1, 2024).
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