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Latinx individuals’ knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review

Abstract

Background

The American College of Obstetricians and Gynecologists recommends prenatal genetic testing (PGT) be offered to all pregnant persons regardless of known risk factors. However, significant racial/ethnic differences exist regarding acceptance of PGT contributing to disparities. Latinas (Latinx), one of the fastest growing ethnic groups in the United States, have low PGT acceptance rates. This systematic scoping review aimed to provide a landscape of existing literature on Latinx individuals’ knowledge of, preferences for, and experiences with prenatal and preconception genetic testing. Synthesizing the current state of the science may inform development of culturally tailored interventions to support high-quality PGT decisions (e.g., informed, aligned with a pregnant persons’ values).

Methods

We conducted a structured, systematic literature search of published articles and gray literature in electronic databases (PubMed, PsycINFO, CINAHL, Medline, Embase, Eric, Social Services Abstracts, and PsycArticles). Articles in English published prior to March 2021 were retrieved relating to genetics, pregnancy, and Latina women. Articles underwent title, abstract and full-text review by independent investigators to assess inclusion and exclusion criteria. Risk of bias was evaluated by two investigators. Iterative thematic analysis was employed to group study findings into themes to identify possible targets for interventions.

Results

The search generated 5511 unique articles. After title screening, 335 underwent abstract review and subsequently 61 full-text review. Twenty-eight studies met inclusion criteria and 7 additional studies were included after reviewing reference lists. Three overarching themes emerged: genetic knowledge/literacy (26/35, 74%), provider (mis)communication/patient satisfaction (21/35, 60%), and cross-cultural beliefs (12/35, 34%). Studies indicate discordant patient-provider language (n = 5), miscommunication (n = 4), and lack of concordant decision-making (n = 4) pose barriers to high-quality PGT decisions. Immigration status (n = 1) and religious beliefs (n = 5) are additional factors influencing PGT decisions.

Conclusions

Identified studies suggest that cultural and linguistic factors affect Latinx PGT decision-making. Latinx individual’s comprehension and recall of PGT information is enhanced by culturally and linguistically concordant providers—suggesting that culturally-informed interventions may enhance PGT acceptability and support high-quality decisions. Future directions to surmount PGT disparities may include community health workers and cultural brokers to empower Latinx people to make informed decisions aligned with their values and preferences.

Plain language summary

Significant racial, ethnic, and language disparities exist in prenatal genetic testing (PGT). Latina (Latinx) people, one of the fastest growing ethnic groups in the United States, have low acceptance rates of PGT. This scoping review provides a systematic search of the literature to better understand Latinx individuals’ knowledge of, preferences for, and experiences with PGT. Eight electronic data bases were systematically searched and identified articles underwent title, abstract, full text, and reference review. Iterative thematic analysis was conducted to group article findings into themes. Thirty-five studies met inclusion criteria and three overarching themes were identified: genetic knowledge/literacy, provider (mis)communication/patient satisfaction, and cross-cultural beliefs. Findings indicate that discordant patient-provider decision making and language and patient provider miscommunication pose barriers to high-quality PGT decisions. Latinx individuals’ understanding and recall of PGT information is improved when delivered in a culturally and linguistically concordant manner. This suggests culturally-informed interventions, including the use of community health workers or cultural brokers, may enhance PGT acceptability and support high quality pregnancy decisions.

Peer Review reports

Background

Significant technologic advances including next-generation sequencing technologies and novel bioinformatic pipelines have advanced the use of genomic information in healthcare. In obstetrics, prenatal genetic testing (PGT) is used to assess a person’s risk of carrying a fetus with a chromosomal disorder. The American College of Obstetricians and Gynecologists (ACOG) recommends PGT should be offered to all pregnant people regardless of known risk factors [1]. There are a range of PGT options to detect chromosomal aneuploidies (e.g., too few or too many chromosomes) and choices can be complex—as each test has respective advantages and limitations. Screening test options include the first trimester (10–13 weeks), quad screen (15–22 weeks) and more recently, noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) [2]. Genetic screening results can help reassure individuals of a low likelihood of a fetal abnormality or inform the obstetrician and patient of a possible genetic condition warranting altered management plans. A positive screening test result triggers subsequent discussion of additional diagnostic testing options such as amniocentesis, chorionic villus sampling (CVS), and fetal chromosomal microarray testing [3]. Importantly, ACOG advocates that pregnant individuals be clearly informed that both screening and diagnostic tests are optional (e.g., not mandatory) and shared decision-making is a critical component of testing decision-making [1].

Pre-test genetic counseling is an important part of supporting high-quality genetic testing decisions (e.g., informed and aligned with the patient’s values and preferences). Genetic counseling combines patient education and non-directive counseling techniques to educate patients about potential risks/benefits, possible test results and their implications, as well as limitations of genetic testing [4]. Thus, genetic counselors aim to provide clear information, elicit values/beliefs and invite reflection to support high-quality decisions for genetic testing. While genetic testing technologies are increasingly integrated into care pathways, advances in genomic healthcare have not benefitted all populations equally. A 2018 report from the National Academies of Sciences, Engineering and Medicine notes growing disparities in genomic healthcare [5]. Notably, significant racial/ethnic and language differences exist regarding acceptance of genetic testing [6]. Individuals from racial and ethnic minority groups are less likely than non-Hispanic White people to have PGT [7]. Evidence indicates Latinx individuals have significantly lower acceptance rates of prenatal diagnostic testing than their White and Black peers [8]. Also, data show Spanish-speakers are less likely to recall prenatal diagnostic testing discussions with their healthcare provider [9]—raising important ethical concerns regarding the informed consent process. Further, Latinx individuals are less likely to have a preference concordant decision-making process (e.g., aligned with preference for autonomous, shared, or provider-driven decision making respectively) [10]. These data point to significant PGT disparities for Latinx individuals. Such disparities are highly relevant as the Latinx population represents 18% of the United States (U.S.) population and accounts for 28% of children under 18-years of age [11].

We conducted a scoping review to provide a comprehensive review of the literature using qualitative, quantitative, and mixed-methods to chart the current understanding of Latinx people’s knowledge, values, preferences, and experiences with PGT. Providing a landscape of the current state of the science is a rational step for understanding the structural (e.g., health system, healthcare providers) and human factors (e.g., literacy/numeracy, attitudes, knowledge, beliefs) affecting uptake of PGT among Latinx individuals. We aim to synthesize the existing literature to guide the development of culturally-informed interventions to support Latinx individuals in making high quality pregnancy decisions and to reduce genomic health disparities.

Methods

We conducted a comprehensive, systematic scoping review to chart the current understanding of Latinx people’s knowledge, values, preferences and experiences with PGT. A scoping review was conducted, over a systematic review, due to the broad nature of our research question and desire to summarize and disseminate findings in order to inform future research and interventions [12]. We employed the five-stage Arksey and O’Malley framework for scoping reviews [12] which overlap with the sequential steps of a systematic review.

Identifying the research question

This scoping review was guided by two inter-related questions: What is the understanding of, preferences for, and experiences with preconception and prenatal genetic testing and counseling among Latinx pregnant people living in the U.S.? What is known about prenatal genetic literacy and numeracy in Latinx people living in the U.S.?

Identifying relevant literature

We used a two-tiered approach to identify relevant articles. First, we conducted a structured, systematic search in 8 electronic data bases (PubMed, PsycINFO, CINAHL, Medline, Embase, Eric, Social Services Abstracts, and PsycArticles) using search terms related to genetics (Genet*, genetic literacy, genetic counseling, genetic education, heredit*, inherit*), pregnancy (prenatal*, pre-natal, perinatal*, antenatal*, ante natal*, preconception*, pre conception*, family NEAR/3 plan*, pregna*), and Latina women (latin*, hispan*, latin American, cuba*, mexic*, salvador*, guatemal*, nicarag*). All articles were exported into Endnote ™ and duplicates were removed. Second, we employed a “snowball” technique to identify additional articles not found in the structured search. The “snowball” method involved reviewing the reference lists of included articles to identify additional relevant studies.

Selecting the literature

Articles included in this scoping review met specific inclusion criteria: (1) primary research studies, (2) systematic reviews and meta-analyses, (3) studies concerning Latinx individuals living in the U.S. who received preconception/ prenatal genetic testing/ counseling and (4) studies with at least 40% of the sample identifying as Latinx (or studies that differentiated results by race/ethnicity). Case reports, opinion pieces, review articles, studies regarding in vitro fertilization, and studies on Latina women under the age of 18 years were excluded from the review.

The database search yielded 5511 articles after duplicates (n = 2446) were removed. One researcher (N.G.) reviewed all titles to identify 334 potentially relevant articles. Next, each abstract was independently reviewed by two investigators per the inclusion/exclusion criteria using Rayyan. One author (NG) reviewed all abstracts and two authors (AAD and MPL) each reviewed half of the abstracts. Discrepancies were discussed with the entire research team and resolved by discussion. In total, 61 articles were identified for full-text review. Similar to the abstract review, each article was read in full by two independent investigators (NG reviewed all articles, AAD and MPL each reviewed half of the articles) and a determination to include/exclude was made based on eligibility criteria. After discrepancies were discussed, 28 articles were included for analysis and data extraction. For the second tier (“snowball”) approach, one investigator (NG) examined the reference lists of the 28 studies identifying 7 additional studies meeting inclusion criteria. A total of 35 studies were included in this scoping review (Fig. 1).

Fig. 1
figure 1

Flow diagram of search results

Charting the data

Information pertaining to the study topic, Latinx sample size, data collection methods, research design, validated measurement tools, PGT type, and findings were extracted for each study (N.G.). To assess the methodological rigor of each quantitative study, we used the 8-item JBI Critical Checklist for Analytical Cross-Sectional Studies [13] and 12-item JBI Critical Appraisal Checklist for Randomized Control Trials [14]. Two members of the research team independently scored articles using the checklist to assess risk of bias (NG reviewed all articles, AAD and MPL each reviewed half of the articles). Initial inter-rater agreement for risk of bias assessment was 70.2% and discrepancies were discussed until agreement was reached. Information on the quality of each study obtained from the risk of bias assessment is provided in the Additional file 1.

Collating, summarizing, and reporting results

Extracted data were summarized in tabular format according to study methodology (e.g., quantitative, qualitative, mixed-methods). Data were then synthesized across the 35 studies using an iterative thematic analysis process [15]. In brief, main study findings were clustered into groups (themes) relating to a shared/similar construct. All investigators discussed the themes in iterative meetings to refine and collapse the groupings into the most salient and coherent themes. The final themes were summarized in tables relating to the respective theme and separated by study methodology. Findings within each theme were used to guide discussion regarding targets for interventions among Latinx individuals to promote high-quality PGT decisions.

Results

A total of 35 studies were included comprising qualitative (n = 13), mixed-methods (n = 11), and quantitative (n = 11), studies. Risk of bias assessment for the quantitative studies showed mixed results. Studies published before 2015 had moderate to high risk of bias whereas more recent studies (i.e., 2015–present) generally had low risk of bias. In particular, the majority of studies published prior to 2015 neither used objective measurement criteria nor measured outcomes in a valid/reliable manner. Studies with high risk of bias were not excluded from our synthesis of findings and development of three themes. Rather, the risk of bias assessment was taken into account when discussing future directions for research and intervention development. For example, findings from studies with high risk of bias were not given as much weight when considering future directions of research and intervention development.

In total, 34/35 (97%) studies interviewed Latina women, 17 (50%) of which focused exclusively on the Latino population. Eight (23%) studies observed genetic counseling or educational sessions, five (14%) studies included male partners, three (9%) studies interviewed providers, and two (6%) studies performed chart reviews. The vast majority (19/28, 68%) of studies did not indicate the language in which participants received genetic information. Two (6%) studies specified that genetic information was received in Spanish, two (6%) studies indicated information was communicated via medical interpreters, one (3%) study indicated information was provided by a bilingual provider/interpreter and two (6%) studies indicated information was provided in the patient’s preferred language. Broadly, results of the identified studies spanned three themes: genetic knowledge/literacy, provider (mis)communication/patient satisfaction, and cross-cultural beliefs.

Genetic knowledge/literacy

Twenty six of 35 (74%) studies reported on genetic literacy in Latina women (Table 1). Genetic literacy can be defined as “sufficient knowledge and understanding of genetic principles to make decisions that sustain personal well-being and effective participation in social decisions on genetic issues” [16]. Few studies have used a validated measure to assess genetic knowledge or literacy in Latina women. Two (8%) studies used the Rapid Estimate of Adult Literacy in Medicine-Revised Scale (REALM-R) [9, 10], one (4%) the Lipkus Expanded Numeracy Scale [10] and another (4%) used the Rapid Estimate of Adult Literacy in Genetics (REAL-G) [17] to assess genetic literacy and numeracy. Overall, the majority of studies found that even after receiving educational interventions or genetic counseling, Latina women did not have optimal knowledge of PGT [17,18,19,20,21,22,23,24,25]. Two studies utilizing linguistically concordant providers to communicate genetic information found Latina women were able to better understand and retain complex genetic information [26, 27].

Table 1 Characteristics of studies with the theme ‘genetic knowledge/literacy

Although genetic knowledge was limited, 4/6 (67%) studies did not identify differences in genetic knowledge between Latina women who accepted or declined PGT [18, 19, 26, 28]. Two (2/6, 33%) studies found differences. One study indicated that genetic knowledge was lower in Latinas who declined PGT [29] whereas Kupperman and colleagues (2014) found genetic knowledge to be higher [30] for Latinas who declined testing. Kupperman and colleagues’ (2014) randomized control trial is noteworthy because the intervention focused both on prenatal genetic education and supporting high-quality decisions [30]. Women randomized to the intervention had higher prenatal genetic knowledge scores than women in the control group. However, no between-group differences were observed in terms of decisional regret after accepting or declining testing [30].

In relation to amniocentesis, perceived risks and fear of the testing were common reasons why women declined testing [22, 27, 28, 31,32,33,34,35]. Several studies note Latina women had misconceptions about testing and were unaware of testing limitations [29, 34, 36]. For example, Case and colleagues (2007) found, 640/676 (95%) women opted for PGT to receive in utero medical treatment if an anomaly was detected [36]. Further, many Latina women considered a negative prenatal genetic test as guaranteeing a healthy fetus and baby [20, 22, 35, 37].

Studies examining differences in Latina women who accepted and refused PGT found differing attitudes towards Western medicine and science (e.g., skeptical of medicine) between women who accepted and declined PGT [32, 37, 38]. Several studies identified that Latina women trusted their health care providers and valued their physicians as key sources of information [21, 27, 35, 39, 40]. However, others note the importance of religious beliefs [38] and familial influences/norms [27] as important mediating factors in PGT decision-making. Browner and colleagues (1999b; 2000a) found that many Latina women in their sample were motivated to accept PGT to maintain a good relationship with their physician [24, 32]—suggesting that hierarchy and power structures influenced decision-making. In contrast, Browner and colleagues (2003) found that using interpreters and ethnically non-concordant providers posed barriers for establishing trust with genetic counselors [41].

Provider (mis)communication/patient satisfaction

Twenty one of 35 (60%) studies reported findings related to provider (mis)communication and patient satisfaction (Table 2). Notably, miscommunication did not appear to diminish Latina women’s perceived acceptability of genetic counseling [32]. Overall, studies revealed relatively low levels of interaction between Latina women and providers when discussing genetic information [31, 42]. The literature identifies several factors contributing to limited engagement with genetic healthcare professionals including use of interpreters [41, 42], medical jargon [41], and Latina women opting to converse in English (in lieu of Spanish or utilizing an interpreter) [9]. Additionally, four (19%) studies found information provided to Latina women often focused on the test/procedures and related risk factors, rather than presenting information on potential findings (e.g., genetic abnormalities) [23,24,25, 42, 43]. For example, one study found that in 19/35 (54%) prenatal intakes, participants were told the purpose of PGT (i.e., what the test screened for) whereas 31/35 (89%) prenatal intakes, discussed the timeframe when testing would take place [25]. Further, one study observed genetic counseling sessions and found that Latina patients were not able to engage in conversations about risk (e.g., risk of complications from genetic testing or risk of a fetal anomaly) [43]. Patient demographics do not appear to influence the content delivered in genetic counselling sessions, rather, provider time constraints determined the breadth of information provided and quality of the discussion [25]. Hunt and colleagues (2005) found 25/40 (63%) Latina patients neither understood the reason for PGT nor the reason for being referred to a genetic specialist (following an abnormal screening test result) [24]. Cultural mismatch also appeared to contribute to miscommunication. For example, genetic counseling uses a non-directive approach yet many Latina women prefer a provider-driven approach [10, 26, 32, 41]. A study observing genetic counseling sessions found clinicians were hesitant to address ethnic ‘myths’ out of a desire to respect the patient’s culture—contributing to information gaps [41]. The lack of clarity in communication during genetic counseling sessions often led Latina women to decline genetic testing and further counseling [17, 41]. Another source of miscommunication relates to discussions of the financial aspects of PGT. Discussion of financial considerations for PGT are not universally discussed in pre-test counseling and one study revealed Latina women desired more information on costs and financial implications of genetic testing [44]. Cumulatively, these various factors affect interactions with genetic counselors and potentially undermine the quality of genetic counseling encounters.

Table 2 Characteristics of studies with the theme ‘mis(communication)/patient satisfaction’

Several studies document the perceived poor quality of genetic counseling sessions [24, 31, 32, 41, 41]. However, others report Latina women express relatively high levels of satisfaction with genetic counseling [23, 25, 32, 33]. Press and colleagues (1993) found that 30/40 (75%) women reported reading and understanding the educational pamphlets—yet women retained very little information [23]. Several studies support the notion that Latina women value genetic testing [17, 27, 45] and perceive consultations as a means to learn more about their pregnancy [27] as well as plan and prepare emotionally [17, 21, 34, 35, 43] and financially [17] for their baby’s arrival. The literature suggests that Latina women desire information (e.g., risks/benefits of genetic testing procedures, possible results, genetic abnormalities) in lay language to demystify technical medical jargon [17]. Moreover, Latina women appear to value receiving information in written form [19, 21, 33] as it enables more time for comprehension and the ability to share information with family members. This observation is important as male partners may be unable to attend genetic counseling appointments due to work or other constraints [46]. Of note, studies indicate that providing culturally/linguistically concordant genetic counseling improves comprehension [26] and empowers women to make genetic testing decisions—reducing the need for written information [27]. One study examined Latina perspectives on one-on-one versus group counseling models. Approximately one-third (8/25) of participants preferred group sessions whereas more than half (13/25) preferred individual sessions [33]. Group genetic counseling was perceived to be potentially helpful for facilitating exchange of knowledge and resources (e.g., crowdsourcing) as well as peer support. In contrast, confidentiality and individualized recommendations were seen as benefits of individual sessions [33].

Cross-cultural beliefs

Twelve of 35 (34%) studies reported findings related to cross-cultural beliefs which entails the differing views Latina women and medical providers have on pregnancy (Table 3). Markens and colleagues (2010) noted that Latina women do not experience pregnancy through a medical/scientific lens [38]. Rather, health and illness tend to be viewed through a cultural or metaphysical lens and pregnancy is considered a natural, routine part of a woman’s life [26]—and not a medicalized condition [38]. In comparison to women who identify as Black, Asian, or White, Latina women were more likely to state that in their culture, they learn to accept ‘what is given’ [40]. This cultural perspective is important because it reveals that risk perception may be influenced by personal and cultural experiences as opposed to scientific data [26]. As noted above, faith has been reported to influence “genetic knowledge/literacy”—yet it also affects “cross-cultural beliefs”. While faith does not appear to predict uptake of genetic services [17, 28, 32, 37, 40, 47], many Latina women are guided by faith in their pregnancy-related decision-making [27, 47].

Table 3 Characteristics of studies with the theme ‘cross-cultural beliefs

Latina women frequently interpret genetic information (e.g., genetic abnormalities, fetal anomalies) through their individual cultural/religious lens. For example, genetic abnormalities may be thought to result from a strong emotional reaction during pregnancy [22, 48] or God’s will [22]. Evidence suggests that in Latino cultures reducing stress, healthy eating, self-care and engaging in cultural health practices are considered ways to avoid genetic abnormalities [22]. Browner and colleagues (2000b) found that Latina women believe the fetus (and heredity) can be altered through non-medical action (e.g., prayer) [37]. Browner and colleagues (2000b) also noted that women who refused amniocentesis after positive alpha-fetoprotein (AFP) screening almost universally engaged in alternative interventions (e.g., prayer, seeking a traditional healer) [37]. A more recent study found Latina women were able to successfully intertwine traditional cultural beliefs and Western medical knowledge [49]. Specifically, Latina women believed genetics, behaviors during pregnancy, God and community practices contribute equally to pregnancy outcomes. However, Latina women largely focused on behaviors during pregnancy—as they are amenable to change, whereas genetics is non-modifiable [49]. Similar to findings in the other themes, studies suggest that Latina women are better able to understand and recall complex genetic information when providers appropriately incorporate culture into PGT and counseling discussions [26, 27].

It is worthwhile to note that immigration status is distinct from culture. However, it is an important consideration when understanding Latina women’s experiences with pregnancy and interactions with the medical system. A recent study examined how immigration-related stressors (e.g., fear of deportation, family separation, lack of family support) not only pose barriers to accessing prenatal healthcare, but also are emotional influences affecting PGT decisions [27]. For instance, separation from one’s nuclear family compromised the availability of family support to make PGT decisions [27]. This may explain why Learman and colleagues (2003) found that compared to other racial/ethnic groups, family influence on PGT decisions was lowest among Latina women [40]. Further, separation from older children (remaining in the country of origin) led to feelings of guilt, as these children were not provided with the same health care opportunities as children born in the U.S. [27].

Discussion

The scoping review of the literature identifies three main themes relating to Latinx individuals’ knowledge, values, preferences and experiences around PGT: (1) genetic knowledge/literacy, (2) provider (mis)communication/patient satisfaction, and (3) cross-cultural beliefs. First, we found that even after receiving informational/educational interventions for PGT, Latinx individuals’ knowledge remained relatively low. However, when genetic information was provided by linguistically concordant providers (e.g., Spanish-speaking providers), Latinx individuals were more likely to understand and retain information about PGT. Thus, it appears that observed gaps in comprehension and knowledge may largely be attributed to language barriers. Such findings are not unique to the field of PGT. A number of public health studies have used promotoras or community health workers (CHWs) to relay important health information and improve comprehension, knowledge and community buy-in. A recent systematic review [50] of global studies utilizing CHWs found that CHW interventions can be highly effective for increasing credibility and buy-in from participants as well as supporting long-term sustainability of public health programs [50]. It is well-documented that Latinx individuals accept genetic testing at lower rates than their White and Black counterparts [8]. Thus, it seems that future interventions could incorporate CHWs to increase PGT knowledge and support high quality testing decisions—thereby decreasing racial/ethnic disparities. To achieve maximum benefits, the optimal timing of these interventions (prior to or during pregnancy) should also be considered [51].

The second theme identified ineffective provider-patient communication and low levels of engagement with limited interaction between Latinx individuals and their providers around PGT. The literature suggests that Latinx individuals frequently have questions related to pain accompanying testing procedures, cost of PGT, and risks of the tests for the fetus. These findings are particularly salient given the increasing role of non-invasive PGT (e.g., NIPT using cf-DNA). Our findings point to future interventions that ensure clear provider communication describing the importance of prenatal genetic counseling to Latinx individuals. Similarly, transparent presentation of risks and benefits should be provided in plain language and a culturally relevant manner. Data indicate that some Latinx individuals prefer a provider-driven approach [10]. Thus, part of culturally appropriate pre-test counseling should include eliciting decision-making preferences (e.g., provider-driven, shared, autonomous) complemented by interventions that aim to empower patients to be actively engaged in the decision-making process (e.g., promoting shared decision-making). However, it is imperative that interventions promoting shared decision making use a culturally grounded approach whenever possible (e.g., promotoras). Specifically, using a culturally grounded approach means that shared decision making may not just involve the patient alone. Rather, the decision-making process may involve others based on the patient’s preferences (e.g., patient’s family and/or community members) [52].

Finally, included studies indicate that Latinx individual’s religiosity, as well as immigration status, are key barriers to PGT. Culturally, religiosity plays an important role in the lives of pregnant Latinx people [53] and many people rely on prayer and other non-Western approaches (not based on Western medicine) to ensure a healthy pregnancy. Therefore, it is important that future interventions consider such religious and cultural perspectives to promote access to PGT and support high quality decisions that are informed and aligned with the values and preferences of Latinx people. Moreover, the immigration experience and immigrant status are relevant and should be considered in the context of prenatal genetic counseling for Latinx individuals. It is worthwhile to note that Latinx ethnicity and immigration status often intersect [54]. As such, it is appropriate and necessary to address client concerns that may be strictly related to immigration. For instance, it may be necessary for interventions to include content to assess and address how pregnancy is viewed in Latin American countries and particular customs and practices that surround the birth of the baby. Working with Latinx immigrants may also entail creating a space and opportunities for teleconsultations (e.g., video calls) to include family members who still reside in the country of origin. Such approaches could place additional responsibilities on already busy clinicians, yet adopting a culturally empowered approach to pre-test counseling appears crucial for surmounting disparities faced by Latinx people and may help support high-quality health decisions for PGT. Approaches that engage transnational families may improve the quality of pre-test counseling interventions and enhance PGT among Latinx people.

Overall, the results from this scoping review suggest that future interventions to promote prenatal genetic counseling among Latinx individuals must be culturally grounded. Viable approaches to promote culturally empowered care may include the use of community-based participatory approaches such as involving CHWs and other key community stakeholders (e.g., religious leaders, community organizers) to bolster engagement and improve acceptability of PGT. Further, leveraging technology (e.g., telemedicine, virtual counseling) to include family members (living in the U.S. and abroad) in decision-making is an additional way to support high quality PGT decisions among Latinx people. Third, culturally inclusive practices that consider religiosity as a cultural norm in decision-making may support more tailored approaches that are not exclusively based on Western medical practices. Currently, there is a paucity of data using such approaches for Latinx individuals in relation to PGT. Well-designed interventional studies that include cultural and community stakeholders are needed to understand how the interventions can ameliorate the identified barriers for Latinx people in relation to PGT.

With the technological advances and racial/ethnic disparities in genomic healthcare and precision medicine, this scoping review is unique and comes at an opportune time for the changing socio-political landscape. However, this review has some limitations. First, a majority of studies 20/35 (57%) were from the 1990s and 2000s. This was especially true for studies that comprised the cross-cultural beliefs theme—where 2/12 (17%) studies were from the last decade. This is problematic both because of the tremendous technological advances in gene sequencing over the past decade [2] and shifting demographics of the Latinx population in the United States. Today, fewer Latinx people are foreign-born and they come from an increasingly diverse set of Latin American countries compared to prior decades [55]. The risk of bias assessment allowed us to partially offset this limitation. Studies conducted in the 1990s and 2000s had moderate to high risk of bias. We, therefore, did not give as much weight to these studies when considering directions of future research and intervention development. Second, one team of investigators focused on this topic in the 1990s and 2000s and it is unclear if they were utilizing the same sample. Specifically, 11/35 (31%) studies were from this team of investigators and we recognize that disproportionate weighting may bias our conclusions. Third, few studies utilized valid measures to assess for genomic knowledge pointing to a need of developing culturally validated measures. It is worthwhile to note that there is a shifting sense of terminology used to describe identity. As such, the terms Latinx are more inclusive than the previous use of Latina. Similarly, pregnant women may not accurately reflect the gender identify of individuals with a uterus who do not identify as women—and thus pregnant persons would be a more inclusive term. Cumulatively, the identified limitations highlight the need for more research on knowledge, attitudes, and preferences for PGT in pregnant Latinx persons.

Conclusion

The ‘genomic era’ has re-conceptualized our understanding of health and illness. Powerful next generation sequencing technologies and bioinformatics have enabled us to advance diagnostics and move non-invasive detection earlier and earlier (e.g., cfDNA for NIPT) [2]. However, if we are to harness the full potential of genomic discovery to improve health and wellbeing (e.g., precision medicine) of all populations alike, then we must also strive to develop and implement culturally empowered approaches to address human factors that influence decision-making for genetic testing. Culturally tailored and personalized approaches to counseling that support high quality decisions are critical to ensure acceptability of and equal access to precision medicine.

Availability of data and materials

Not applicable.

Abbreviations

ACOG:

American College of Obstetricians and Gynecologists

AFP:

Positive alpha-fetoprotein

Amnio:

Amniocentesis

cfDNA:

Cell-free DNA

CHW:

Community health worker

CVS:

Chorionic villus sampling

NIPT:

Noninvasive Prenatal Testing

PGT:

Prenatal genetic testing

REAL-G:

Rapid Estimate of Adult Literacy in Genetics

REALM-R:

Rapid Estimate of Adult Literacy in Medicine-Revised Scale

US:

United States

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Acknowledgements

This work was supported by a Schiller Institute Grant for Exploratory Collaborative Scholarship. Dr. Dwyer also receives support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (1 P50 HD104224-01 NICHD, “The Massachusetts General Hospital Harvard Center for Reproductive Medicine”).

Funding

This work was supported by a Boston College Type 2 Schiller Institute Grant for Exploratory Collaborative Scholarship (SIGECS).

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All authors contributed to the development of the research question and study design. NG conducted the first stages of the scoping review by identifying relevant studies and selecting studies the for abstract review. All three authors participated in the abstract and full-text reviews and risk of bias assessment. The first draft of the introduction was written by AD, results and methods sections by NG, and discussion by MPL. All authors reviewed, edited, and provided extensive feedback on all portions and drafts of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Natalie Grafft.

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Supplementary Information

Additional file 1: Table S1.

JBI Critical Appraisal Checklist for Analytic Cross-Sectional Studies (response options: yes, no, unclear, n/a) included in the review. Table S2. JBI Critical Appraisal Checklist for Randomized Control Trials (response options: yes, no, unclear, n/a) included in the review.

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Grafft, N., Dwyer, A.A. & Pineros-Leano, M. Latinx individuals’ knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review. Reprod Health 19, 134 (2022). https://doi.org/10.1186/s12978-022-01438-2

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Keywords

  • Health literacy
  • Genetic counseling
  • Genetic testing
  • Genomic healthcare
  • Genetic literacy
  • Attitudes
  • Prenatal testing
  • Latinx populations