Abstract
Recent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total. Only 53.6% were aware that genetic testing exists for ASD. Genetic testing was completed in 17.4% of respondents. Rates of awareness were similar across demographic factors including race, family income, education level, and urban, suburban, or rural residence. This supports low awareness as a key factor in the underutilization of genetic testing for ASD, even among members in an organized autism support group. Targeting public awareness through these organizations may be a promising approach for improving the utilization of genetic testing in ASD.
Keywords: Autism spectrum disorder, Support group, Awareness, Community, Genetic testing
Introduction
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication along with restricted, repetitive patterns of behavior, interests, or activities (American Psychiatric Association 2013). The reported prevalence of ASD has continued to increase in recent years, with current estimates now 1 in 54 children in the United States (US) (Maenner et al. 2020). A variety of environmental, genetic, and epigenetic factors contribute to the development of ASD. De novo and inherited variants in over 700 genes have been associated with the condition (Saxena and Chahrour 2017). These molecular mechanisms are diverse, varying from single-gene mutations to copy-number variants on nearly every chromosome (Huguet et al. 2013).
The increasing accessibility of genetic testing in the form of chromosomal microarray (CMA) and next-generation sequencing has improved the clinician’s ability to detect these variants. Genetic testing is now recommended by several professional societies. In 2014, the American Academy of Neurology reaffirmed its recommendation for genetic testing in ASD patients with intellectual delay (ID), dysmorphic features, or family history of fragile X or unexplained ID (Filipek et al. 2000). The American Academy of Child and Adolescent Psychiatry recommends all patients with ASD receive genetic testing, which may include G-banded karyotype, fragile X testing, or CMA (Volkmar et al. 2014). This is reinforced by the American College of Medical Genetics and Genomics with CMA and fragile X testing considered first-tier evaluations for ASD (Schaefer and Mendelsohn 2013). Potential benefits of genetic testing have been well described. These include understanding the etiology of ASD, better prognostic predictions, earlier treatment interventions, and informing reproductive decisions (Hens et al. 2016; Hyman et al. 2020).
Despite these recommendations and benefits, studies show that only about one-third (22–41%) of children with ASD receive genetic testing (Vande Wydeven et al. 2012; Cuccaro et al. 2014; Kiely et al. 2016; Zhao et al. 2019). Utilization of these services has been associated with concomitant intellectual delay (ID) and increased usage of the health care system; however, this does not fully explain the underutilization as only half of ASD children with ID received testing (Kiely et al. 2016). Several studies have associated a lack of caregiver awareness with the underutilization of these services (Chen et al. 2013; Vande Wydeven et al. 2012). A recent national survey in the US identified awareness of genetic testing for ASD as a key factor in utilization of these services (Zhao et al. 2019).
Previous research on family experiences with genetic testing for ASD has recruited participants from regional and national research databases, provider treatment networks, and nationwide surveys. An important and underexplored aspect of ASD genetic testing is the contribution from community support groups. Caregivers join these groups for emotional support and exchanging information related to their child with ASD (Clifford and Minnes 2013; Mohd et al. 2015). Community support groups may be an effective avenue for increasing awareness of ASD issues, such as information on genetic testing. Currently, there is a paucity of data exploring the awareness of genetic testing among ASD support groups. In response, an exploratory study was conducted to characterize the awareness and utilization rates of genetic testing for ASD through a regional chapter of Autism Speaks, a large autism advocacy organization in the US.
Methods
A web-based REDCap survey (Harris et al. 2009) was designed to collect information about demographic factors for both the child and caregiver. Respondents were systematically queried if they (1) are aware of, (2) have been offered, and (3) have completed genetic testing for their child with ASD. Follow-up questions were included with space for open-ended responses. These focused on the caregiver’s experiences and opinions of genetic testing. The survey takes approximately 5–10 min to complete. There was no reward for participation and informed consent was provided in the survey introduction. It was specifically requested that only caregivers for children with ASD participate. The survey was reviewed and approved by the primary author’s Institutional Review Board (IRB) and the national research review board for Autism Speaks prior to dissemination.
Study participants were recruited through Autism Speaks over a period of 8 weeks from October to December 2018. Surveys were anonymous and no identifying information was collected. The survey was made accessible via the chapters e-newsletter (n = 70,000 total viewers) and social media pages (n = 18,597 total viewers).
The primary endpoints were the percentage (95% CI) of caregivers for children with ASD that were aware of, offered, and had completed genetic testing for their child. Associations between demographic factors and awareness of genetic testing were also assessed using chi-square tests. SAS v9.4 (SAS Institute Inc., Cary, NC) was utilized for analysis. Post hoc power analysis was performed for associations between demographic variables and awareness rate. Free responses were reviewed by the research team and summarized in the results.
Results
During the 8-week data collection period, 138 surveys were received. The number of eligible respondents that viewed the survey link is unclear, so a response rate was not calculated. All 138 responses were included in the final analysis. 96.4% of respondents were biological parents. The median age of the respondents’ child with ASD at diagnosis was 3 years. About three-quarters of the children were identified as white. The majority of respondents (71.3%) received private insurance through their employer, while others received public insurance such as Medicaid or the Children’s Health Insurance Program. Caregivers identified across all levels of family income, educational background, and location of primary residence (Table 1).
Table 1.
Demographic characteristics. Frequency (%) shown for each item except asterisk (*) denotes median (interquartile range)
| Caregiver | |
|---|---|
| Relationship to child (n = 138) | |
| Biological Parent | 133 (96.4%) |
| Adoptive Parent | 3 (2.2%) |
| Other family member | 2 (1.4%) |
| Health Insurance (n = 136) | |
| Private insurance through employer | 102 (75%) |
| Public insurance (Medicaid, Children’s Health Insurance Program) | 33 (24.3%) |
| Other | 1 (0.7%) |
| Income (n = 138) | |
| Less than $24,000 | 13 (9.4%) |
| Between $24,000 and $44,999 | 16 (11.6%) |
| Between $45,000 and $74,999 | 31 (22.5%) |
| Between $75,000 and $119,000 | 39 (28.3%) |
| $120,000 or more | 31 (22.5%) |
| Rather not answer | 8 (5.8%) |
| Education (n = 138) | |
| Some high school | 4 (2.9%) |
| High school graduate | 14 (10.1%) |
| Some college | 28 (20.3%) |
| Associate’s and/or bachelor’s degree | 58 (42.0%) |
| Master’s degree | 29 (21.0%) |
| Doctoral or professional degree | 5 (3.6%) |
| Location of primary residence (n = 138) | |
| Urban | 43 (31.2%) |
| Suburban | 77 (55.8%) |
| Rural | 18 (13.0%) |
| Child | |
| Age of child at time of survey; *median (IQR) | 10 (5, 13) |
| Age of child at time of diagnosis; *median (IQR) | 3 (2, 6) |
| Race (n = 138) | |
| white | 100 (72.5%) |
| Other | 38 (27.5%) |
| Ethnicity (n = 136) | |
| Hispanic or Latino | 22 (16.2%) |
| Not Hispanic or Latino | 114 (83.8%) |
| Provider (diagnosed by) (n = 131) | |
| Physician (general) | 3 (2.3%) |
| Physician (specialist—neurologist or pediatric neurologist) | 24 (18.3%) |
| Physician (specialist—developmental and behavioral) | 46 (35.1%) |
| Psychiatrist (child and adolescent or adult or general) | 15 (11.5%) |
| Psychologist | 25 (19.1%) |
| Special educator/school | 14 (10.7%) |
| Speech therapist | 1 (0.8%) |
| Unknown | 1 (0.8%) |
| Other | 2 (1.5%) |
The proportion of caregivers aware of genetic testing for ASD was 53.6% (n = 74, 95% CI 44.9, 62.2) (Fig. 1). Of those, 41 (56.2%) reported that they were offered genetic testing for their child. Of those that were offered, 24 (58.5%) reported they had completed genetic testing for their child with ASD. In total, only 17.4% (n = 24) of the sample indicated that they had completed genetic testing for their child with ASD. There was no significant difference in awareness rate across demographic groups; however, post hoc analysis revealed insufficient power to detect associations with child race and ethnicity, caregiver education, or caregiver income (Table 2). Seventeen caregivers in this survey were offered genetic testing but did not complete it (Table 3). The most common reasons in this cohort were lack of insurance coverage (n = 7, 42.2%) or not wanting to complete it (n = 8, 47.1%). Others had no guidance (n = 1), were waiting on a referral (n = 1), were waiting for better quality tests (n = 1), will do testing soon (n = 1), or felt that testing offered no path forward (n = 1).
Fig. 1.
Caregivers that were aware of, offered, and completed genetic testing for their child with ASD
Table 2.
Demographic characteristics for those that were aware and not aware of genetic testing for ASD
| Caregiver awareness of genetic testing for ASD | Yes (n=74) | No (n=64) | |
|---|---|---|---|
| Child ethnicity | |||
| Hispanic or Latino | 15 (68.20%) | 7 (31.80%) | p=.1178 |
| Not Hispanic or Latino | 57 (50.00%) | 57 (50.00%) | |
| Child race | |||
| White | 52 (52.00%) | 48 (48.00%) | p=.5135 |
| Other | 21 (58.30%) | 15 (41.70%) | |
| Parent/guardian education | |||
| Some high school or high school graduate | 10 (55.60%) | 8 (44.40%) | p=.2044 |
| Some College | 10 (35.70%) | 18 (64.30%) | |
| Associate’s and/or bachelor’s degree | 34 (58.60%) | 24 (41.40%) | |
| Master’s, doctoral, or professional degree | 20 (58.80%) | 14 (41.20%) | |
| Income | |||
| Less than $24,000 | 7 (53.90%) | 6 (46.10%) | p=.0866 |
| Between $24,000 and $44,999 | 6 (37.50%) | 10 (62.50%) | |
| Between $45,000 and $74,999 | 17 (54.80%) | 14 (45.20%) | |
| Between $75,000 and $119,000 | 22 (56.40%) | 17 (43.60%) | |
| $120,000 or more | 14 (45.20%) | 17 (54.80%) | |
| Rather not answer | 8 (100.00%) | 0 | |
Table 3.
Follow-up responses regarding genetic testing for ASD
| For those that were offered but did not complete testing, why was it not complete? (n=17) | |
|---|---|
| Not covered by insurance | 7 (41.2%) |
| Cannot afford co-pay | 0 |
| No guidance to complete testing | 1 (5.9%) |
| Did not want to complete testing | 8 (47.1%) |
| Other (waiting on a referral, 1; Will do soon, 1; Waiting for better quality testing, 1; Offers no path forward, 1) | 4 (23.5%) |
| For those that did not complete genetic testing, would you utilize genetic testing to look for a cause of ASD if it was available to you? (n=113) | |
| Yes | 92 (81.3%) |
| No | 21 (18.6%) |
| For those that would utilize genetic testing for ASD, how do you anticipate it to be useful? (n=92) | |
| Finding a cause of ASD | 82 (89.1%) |
| Providing prognosis of expected clinical course | 53 (57.6%) |
| Making reproductive family planning decisions | 30 (32.6%) |
| Refining treatment options | 63 (68.5%) |
| Avoiding unnecessary additional tests | 39 (42.4%) |
| Identifying associated medical risks | 58 (63.0%) |
| Improving access to research treatment protocols | 57 (62.0%) |
| Other (finding a cure, 2; adding to aggregate data, 1; peace of mind for child, 1; future life decisions other than reproductive, 1) | 5 (5.4%) |
| For those that would not utilize genetic testing for ASD, why not? (n=21) | |
| Results are not valuable for me | 15 (71.4%) |
| Results may do more harm than good | 7 (33.3%) |
| For religious and/or cultural reasons | 1 (4.8%) |
| Results may cause family conflict | 0 |
| Results are not accurate | 0 |
| Other (attributed to prematurity and/or birth complication, 2; do not care why they have ASD, 1; fear of genetic etiology promoting pregnancy terminations, 1; genetic testing is dangerous, 1) | 5 (23.8%) |
| For those that did complete genetic testing, how was it useful to you? (n=24) | |
| Finding a cause of ASD | 4 (16.7%) |
| Providing prognosis of expected clinical course | 2 (8.3%) |
| Making reproductive family planning decisions | 1 (4.2%) |
| Refining treatment options | 3 (12.5%) |
| Avoiding unnecessary additional tests | 1 (4.2%) |
| Identifying associated medical risks | 6 (25.0%) |
| Improving access to research treatment protocols | 2 (8.3%) |
| It was not useful | 12 (50.0%) |
| Other (have not yet received results, 1) | 1 (4.2%) |
Note: All variables are reported as frequency (percent)
For caregivers who had not completed genetic testing, 92 (81.4%) indicated that they would utilize these services for their child if available to them (Table 3). Among this group, the most common rationales were hopes of finding a cause (n = 82, 89.1%), refining treatment options (n = 63, 68.5%), and identifying associated medical risks (n = 58, 63.0%). On the contrary, twenty-one caregivers responded that they would not complete genetic testing if available. They felt the results would not be useful (n = 15, 71.4%) or would do more harm than good (n = 7, 33.3%) (Table 3). For those who did complete testing, 12 of the 24 caregivers (50%) reported that it was not useful to them. Others responded that finding a cause of ASD (n = 4, 16.7%), refining treatment outcomes (n = 3, 12.5%), and identifying associated medical risks (n = 6, 25%) were useful benefits (Table 3).
Discussion
This study explored the awareness and utilization of genetic testing for children with ASD in a regional chapter of Autism Speaks, a national autism support group. Only about half (53.6%) of the caregivers reported being aware of genetic testing for their child with ASD. This is consistent with studies implicating low caregiver awareness as a key factor in the underutilization of these services, yet the awareness rate here was higher than previously suggested (Chen et al. 2013; Vande Wydeven et al. 2012; Zhao et al. 2019). Surveying members of an organized and active community support group may contribute to this finding. Although no significant difference was detected in awareness rate across demographic groups, a larger sample size is required to adequately assess associations with child race and ethnicity, caregiver education, and caregiver income (Table 2).
Autism Speaks is a national organization and leader in the funding of ASD research, particularly with the creation of the Autism Treatment Network to improve the standard of care for individuals with ASD (Singh et al. 2007; Murray et al. 2016). Given this focus, it is surprising that only half of respondents in this study were aware that genetic testing exists for ASD. Well-organized “toolkits” have been created by Autism Speaks to provide both providers and families with important information pertaining to ASD (Bellando et al. 2016). These toolkits serve as key mediators between clinical practice guidelines and the general public. In this manner, ASD support groups may be able to play a key role in improving the awareness of genetic testing.
Only 17.4% of caregivers in this sample completed genetic testing for their child with ASD, similar to previous reports (Vande Wydeven et al. 2012; Cuccaro et al. 2014; Kiely et al. 2016; Zhao et al. 2019). It is important to note that the utility of genetic testing is highest when ASD is associated with ID or syndromic features (Munnich et al. 2019). Despite this, copy-number variants have been detected in up to 22.9% of individuals when ASD alone is the indication for testing (Ho et al. 2016). Several reports of the diagnostic yield continue to support the use of genetic testing, particularly CMAs, in the initial diagnostic workup for ASD (Shen et al. 2010; McGrew et al. 2012; Jang et al. 2019). In our study, 50% of participants also reported some benefit from testing. Nonetheless, it is important for clinicians to discuss the diagnostic yield with each family in order to set realistic expectations, particularly in patients without syndromic features or ID (Ross et al. 2013; Tammimies et al. 2015; Munnich et al. 2019).
Lastly, caregiver preference seems to have little significance in the underutilization of these services. The majority of caregivers stated they would use these services if available, which falls within range of previous reports (Chen et al. 2013; Johannessen et al. 2017; Li et al. 2016). The most common justifications for desiring testing in this study align with previously described benefits (Hens et al. 2016; Hyman et al. 2020). Given that some prefer not to obtain testing for their children, it is useful to know that the majority of families are interested in these services. Caregivers who would not participate in genetic testing attribute their decision to the results not being valuable or potentially harmful (such as “testing was dangerous” or identifying genetic etiologies may encourage pregnancy terminations in the future). All of these values must be taken into consideration when clinicians discuss genetic testing for their patients and families with ASD.
Since the completion of this survey, new recommendations from the American Academy of Pediatrics encourage providers to discuss and offer genetic testing to all patients with ASD (Hyman et al. 2020). Improving the awareness of genetic testing for ASD is important to best comply with these evidence-based recommendations. Furthermore, additional barriers beyond awareness of genetic testing also seem to be at play. Similar to our study, insurance coverage has previously been identified as a barrier to genetic testing for ASD (Rutz et al. 2019). It is imperative that insurance organizations are made aware of the aforementioned guidelines and promising studies of diagnostic yield to promote better coverage.
A key limitation in this study is a small sample size, although the results are similar to other previously discussed data on genetic testing for ASD. A larger sample size may reveal significant differences in awareness rate between demographic factors upon subgroup analysis. Furthermore, self-selection bias is inherent with online survey methodology employing nonprobability sampling. It is also possible that the true response rate was very low. The survey specifically asked that only caregivers for a child with ASD complete the survey, but the link was accessible by all members of the support group. Multiple responses from a given participant could have been collected or collected from somebody other than a caregiver; however, caregivers were asked to complete the survey just once and there was no financial incentive for a respondent to fill out the survey. The survey tool also assumed that the caregiver and child held the same insurance. This may have impacted data in cases where the child had a different type of insurance.
In summary, nearly half of caregivers for children with ASD identified from an autism support group were unaware that genetic testing exists for ASD. This is likely a key factor in the underutilization of these services. Social programs directed towards increasing awareness may have the most profound effects on increasing the utilization rate. Community support groups often have the resources and connections to facilitate public awareness campaigns. Ultimately, these organizations may be fundamental in spreading public awareness of genetic testing for ASD in an effort to increase the number of families that benefit from these services.
Acknowledgments
The authors wish to acknowledge Amy Helgeson, Field Development–Executive Director of Autism Speaks Illinois and Wisconsin, who facilitated the dissemination of the survey and the caregivers of the Autism Speaks support group who participated in our survey.
Author contributions
Aaron Zebolsky contributed to the conceptualization, investigation, and initial draft of this manuscript. Data analysis was carried out by Duncan Vos. Neelkamal Soares contributed to the methodology, resources, and supervision of the project. All authors were involved in editing the manuscript and approved of the final draft.
Compliance with ethical standards
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
Conflict of interest
The authors declare that they have no conflict of interest.
Footnotes
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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