Attitudes of Autistic Adults toward Genetic Testing for Autism

doi:10.21203/rs.3.rs-3863634/v1

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Attitudes of Autistic Adults toward Genetic Testing for Autism

https://doi.org/10.21203/rs.3.rs-3863634/v1

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Genetic testing for autism has been a controversial topic within the autistic community. Opinions regarding benefits, risks, and limitations of genetic testing often differ between autistic people, researchers, and healthcare providers. The present study sought to understand the beliefs, attitudes, and intentions to pursue genetic testing of autistic adults, and compare perspectives of autistic people who have had genetic testing with those who have not. An international sample of 173 autistic adults (19 [11%] who had previously undergone autism-related genetic testing) completed an online survey with questions assessing beliefs, attitudes, and intentions to pursue genetic testing. Although beliefs and attitudes about genetic testing varied widely across the sample, the “typical” viewpoint was generally moderate (i.e., not strongly in favor of or against genetic testing). Autistic individuals who had received prior genetic testing had much more positive beliefs about autism-related genetic testing (d = 0.87, CI_95% [0.37, 1.36]) and attitudes toward genetics (d = 1.10, CI_95% [0.61, 1.58]) compared to those who had not received such testing, although there were no meaningful differences between those same groups regarding beliefs about genetic testing unrelated to autism (d = 0.02, CI_95% [-0.45, 0.49], p = .93). Intention to genetically test oneself or one’s (hypothetical) children was also significantly predicted by autism-specific beliefs, attitudes, and prior genetic testing status. A large majority of the sample (78.6%) also agreed that autistic individuals would benefit from contact with a genetic counselor in certain situations. These findings suggest that the autistic community does not have a singular view of genetic testing, and for those autistic individuals who are interested in pursuing genetic testing for themselves or a family member, genetic counselors have the potential to play a key role in clinical care.

Medical Genetics

autism

beliefs

attitudes

genetic testing

genetic counseling

theory of planned behavior

We use identity-first language (e.g., an autistic or an autistic person/individual) in this research article and study materials because many autistic self-advocates use identity-first language as autism is an inherent part of their identity (Bottema-Beutel et al., 2021; Bury et al., 2023; Gernsbacher, 2017; Kapp et al., 2012; Kenny et al., 2016; Robison, 2019). We recognize that the autistic community is diverse and that some individuals prefer to use person-first language (e.g., a person with autism or an individual with autism).

What is known about this topic

Current literature primarily describes parent perceptions and opinions about the utility of genetic testing and genetic research for their autistic children, but research is lacking on the attitudes of autistic adults themselves.

What this paper adds to the topic

This study seeks to describe the beliefs and attitudes of autistic adults in regards to genetic testing for autism and provide clinical implications for genetic counselors.

Autism is a complex neurodevelopmental diagnosis characterized by social, cognitive, and behavioral differences. Based on 2020 data, the CDC reports 1 out of every 36 children aged 8 years is diagnosed with autism, an increase over the 2018 data (1 in 44) (Maenner et al., 2023). The American Academy of Pediatrics has outlined clinical diagnostic criteria for autism based on DSM-5 recommendations and characteristics that fall under two domains: social communication and interaction and restrictive and repetitive patterns of behavior (Hyman et al., 2020). Research has shown that genetics play a significant role in autism (Thapar and Rutter, 2021), and twin-based heritability estimates frequently exceed 80% (Bai et al., 2019; Tick et al., 2016; Taylor et al., 2020; Yip et al., 2018). More than 100 genes with rare genetic variants of large effect and thousands of common genetic variants of small effect have been reported to be associated with autism (Havdahl et al., 2021). Autism has been shown to be part of monogenic disorders like Fragile X and Rett syndrome (Richards et al., 2015), though most autism is thought to be highly polygenic and multifactorial in etiology (Pugsley et al., 2022; Vashisth and Chahrour, 2023). Research focused on identifying genes restricted solely to autism continues to be a challenge (Genovese and Butler, 2020). Current literature reports genetic testing for autism has a diagnostic yield ranging from about 10–25% (Feliciano et al., 2019; Savatt and Myers, 2021; Srivastava et al., 2019).

Genetic testing and genetic research has been a controversial topic within the autistic community. Not all autistic individuals and their families support genetic research on autism, as demonstrated by the recent backlash against Spectrum 10k, a research study in the UK that sought to gather 10,000 DNA samples from autistic individuals (Sanderson, 2021). As of the writing of this manuscript, the Spectrum 10k study has been halted due to the need for the study to be fully redesigned in a way that more effectively incorporates the views of autistic stakeholders (see https://spectrum10k.org/ for more information). In addition to the specific controversy over Spectrum 10k, funding for research on autism has been disproportionately allocated towards genetic research rather than to areas of interest reported by autistics and their supporters (ASAN, 2022; Cervantes et al., 2021; den Houting and Pellicano, 2019; Emerson et al., 2023; Frazier et al., 2018; Pellicano et al, 2014; Roche et al., 2021). Previous literature exploring perceptions of genetic testing and genetic research for autism has mainly focused on parent perceptions and, overall, parent articles have described optimism about genetic testing and/or research (Harrington et al., 2018; Johannessen et al., 2017; Lucas et al., 2021; Reiff et al., 2015; Trottier et al., 2013). Few research studies have explored autistic adult perceptions; through two recent articles published in 2023 begin to address this topic – one from the University of British Columbia which is a descriptive compilation of autistics’ attitudes towards genetic testing for autism (Byres et al., 2023) and a second qualitative study that reports on opinions of autistic adults regarding autism genomic research (Ellis and Asbury, 2023). In addition to building off the findings from these studies, our goal was to better understand autistics’ beliefs, attitudes, and intentions to pursue genetic testing, and compare perspectives of autistics who have had genetic testing with those who have not.

2.1 | Community involvement statement

The research team recognizes that this study could not be possible without the guidance from one team member (ZJW) who is an autistic self-advocate and autism researcher. Together, our team has expertise in genetics, genetic counseling, autism research, clinical care of autistic individuals and their families, and advocacy.

2.2 | Survey instrument

Participants completed an ad-hoc survey that assessed demographic characteristics; attitudes and beliefs about genetic testing, genetics research, and genetic counseling; and basic knowledge of autism genetics. The present investigation focuses specifically on the questions relevant to attitudes and beliefs toward genetic testing, as well as their demographic and clinical correlates. Our survey was guided by constructs found in the Theory of Planned Behavior (TPB; Azjen, 1991) conceptual framework (Fig. 1). The TPB has been utilized to study an individual’s beliefs, attitudes, and intention to perform a variety of behaviors. Intention, and ultimately behavior, is impacted by a person’s attitude toward the behavior and their perceived benefits (beliefs) of the behavior (Ajzen, 1991). This model has been applied in studies looking at factors that affect intention to pursue genetic testing (Wolff et al., 2011) and attitudes towards preconception carrier screening (Lakeman et al., 2009; Voorwinden et al., 2017). Zhao et al. (2021) also applied the TPB framework in a study looking at parents’ intention to pursue genetic testing for their autistic children. Our survey followed Ajzen’s (2019) TPB questionnaire outline by asking closed-ended questions on a Likert scale to assess the beliefs and attitudes of our participants.

TPB constructs specific to our study include ‘perceived benefits,’ ‘attitudes,’ and ‘intention.’ The first construct, ‘perceived benefits’ refers to the beliefs our participants have regarding the utility of genetic testing. ‘Attitudes’ includes the values that our survey respondents have towards genetic testing, and ‘intention’ refers to the likelihood that participants pursue genetic testing. Specific copies of the survey questions representing the TPB constructs can be found in Supplemental Table S2.

In addition to collecting demographic information (sex assigned at birth, gender identity, current age, person transcribing responses, country of residence, race/ethnicity, level of education, and information on autism diagnosis), our survey consisted of multiple-choice questions, 36 Likert-scale questions, and free-text responses specific to genetic testing. We also included some multiple choice and Likert-scale questions about personal experiences with genetic counselors, if any, and perceptions of genetic counseling, in general. To assess beliefs, attitudes, and intentions, respondents were asked to report ‘level of agreement’ and to report ‘likelihood’ to pursue genetic testing. The survey was self-directed and included a few open-end questions used for descriptive purposes only. Study data were collected and managed using REDCap electronic data capture tools hosted at Vanderbilt University (Harris et al., 2009; Harris et al., 2019).

2.3 | Participants and procedures

The Institutional Review Board of Vanderbilt University Medical Center approved our research protocol (IRB #221551). Our target sample population were autistic adults who were 18 years or older with a clinical or self-diagnosis of autism. Participants had to be able to complete our internet survey in English themselves or by having someone transcribe their responses. Participants were recruited from multiple sources, including social media (Facebook, Twitter) and direct contact with local and national autism advocacy groups. Participation was incentivized by offering 30 randomly-selected participants a $50 USD Amazon gift card or $50 USD via PayPal.

From an initial 444 survey responses, we removed all individuals not identifying as autistic (n = 62), as well as individuals who did not complete the relevant ‘genetic testing’ questions within the larger survey (n = 32). Additionally, the survey contained seven “instructed response” attention check questions (e.g., “To show that you’re paying attention, please select strongly agree.”) to flag participants for careless/low-effort responding, and individuals providing incorrect answers on more than one of these items were also removed from the dataset (n = 150). An additional seven participants were removed due to contradictory survey responses (i.e., impossible combinations of autism diagnostic status, autism family history, and receiving a genetic test specifically for autism). Lastly, free-text responses were examined for responses that appeared invalid (e.g., verbatim replications of other participants’ responses or the same free-text response across multiple text fields, text that did not answer the prompt, nonsense answers), which removed 20 potentially invalid responses. After exclusion of participants, the remaining dataset contained responses from 173 autistic adults (Fig. 2).

2.4 | Data analysis

Descriptive and exploratory analyses were performed in jamovi (version 2.3.21) (The jamovi project, 2022; R Core Team, 2021). Spearman rank correlations (r_s) were used to calculate the strength of bivariate association between variables – beliefs and attitudes, attitudes intentions, and autism genetics knowledge (with confidence intervals calculated manually in R using the Caruso-Cliff [1997] method). For the purposes of our study, a positive correlation between beliefs and attitudes or between attitudes and intentions means “strongly agree” values occur together. A negative correlation indicates that a “strongly agree” value corresponds with a “strongly disagree” value. We considered bivariate correlations greater than 0.5 to demonstrate strong relationships between variables (Cohen, 1992). When comparing variables between groups who had versus had not received genetic testing, continuous variables (e.g., composite item scores) were compared with Welch (unequal-variance) t-tests (Delacre et al., 2017), and ordinal variables were compared using Brunner-Munzel tests and the probability of superiority effect size p̂ (Karch, 2021). Statistical significance for correlations and group comparisons was set to an alpha of 0.05, uncorrected.

To assess the latent structure of the belief and attitude items, we first conducted an exploratory graph analysis (Golino and Epskamp, 2017; Golino et al., 2020), examining the number and membership of Walktrap communities generated in a partial correlation network (EBICglasso estimation based on Pearson correlations). This demonstrated three separate communities of items, which we characterized as “Autism-specific beliefs” (7 items), “General beliefs unrelated to autism” (6 items, including one “attitude”), and “Attitudes about genetic testing” (10 items, including 3 “beliefs”). We reverse-scored three of the attitude items to allow positive scores on the items to represent more positive attitudes toward genetic testing in all cases. We then conducted principal components analysis (PCA) on the Pearson correlation matrix of each item set separately, extracting the first principal component from each item set to include in later correlation and regression analyses. The first principal components for the “Autism-specific beliefs,” “General beliefs,” and “Attitudes” scales explained 79%, 65%, and 59% of the variance in their respective groups of items. For the remaining between-group analyses, we used the unit-weighted mean of item scores in each community on a 1–7 scale, which could be interpreted as the degree to which a typical autistic participant agreed with the statements in that category on average. Mean item scores and principal component scores for the “Autism-specific beliefs,” “General beliefs,” and “Attitudes” constructs were generated from their respective 7-, 6-, and 10-item composites, with all items scored on a 7-point scale ranging from “Strongly Disagree” to “Strongly Agree” (and three of the attitude items reverse-scored such that higher scores indicated more positive feelings toward genetic testing).

To test whether there were associations between participants’ intention to pursue genetic testing for themselves or future children and their beliefs and attitudes towards genetic testing, we performed ordered (proportional-odds) logistic regression analyses (Bürkner & Vuorre, 2019; Harrell, 2015) using the rms R package. In each analysis, we used one of the four intention questions as the outcome variable and one of the principal component scores as a predictor, while also adjusting for age (continuous), gender (categorical: male, female, non-binary/other), and level of education (binary: 4-year college degree or more vs. did not complete college). For example one regression equation was as follows:

[Intention question] ~ [Predictor of interest] + age + gender + level of education

In these regressions, continuous predictors (such as component scores) were standardized such that they had a mean of zero and standard deviation of one in the sample. We repeated this analysis for each of the four intention questions, substituting the Autism-specific Beliefs Component with the General Beliefs Component and the Attitudes Component, respectively.

We conducted additional ordered logistic regression analyses to examine family history (presence or absence of other autistic family members) and autism diagnosis (provider- or self-diagnosed), as influencing factors on intention to pursue genetic testing. In each regression analysis, we used an intention question as the outcome variable and the family history or autism diagnosis as predictors (one focal test per model), while also adjusting for age, gender, and level of education. To account for multiple comparisons (n = 20 tests), we used a Bonferroni-Holm correction to adjust the p-values from focal hypothesis tests.

Finally, as an exploratory analysis, we also tested whether prior knowledge about autism genetics was associated with the participant’s intention to pursue genetic testing (with the standardized 0–10 knowledge composite used as a single predictor in a new regression), while adjusting for the same covariates as above. These analyses were also repeated after adjusting for both the beliefs and attitudes components that were found to significantly predict the intention variable in the initial regression analysis stage. As the analysis was exploratory, we opted not to use any statistical correction for multiple testing.

3.1 | Participant characteristics

Table 1 outlines the demographics of our autistic adult participants. Most of our respondents transcribed their own responses (97.1%, n = 168) with a few having a parent (1.7%, n = 3) or sibling (1.2%, n = 2) transcribe on the participant’s behalf. Participants were asked to specify their gender identity, with 53.8% identifying as women, 31.8% identifying as men, 12.1% identifying as non-binary, and 2.3% identifying as other (“neuroqueer/non-binary woman,” “genderqueer,” “autigender,” and “prefer not to say”). Participants self-described their race and ethnicity by ‘selecting all that apply’ from a curated list or by free-texting, with 75.1% selecting only “white, European” (i.e., Non-Hispanic white) and 24.9% identifying as other or multiracial/multiethnic.

Table 1

Demographics of autistic adult participants (N = 173)
		n	Percent (%)
Sex assigned at birth
	Female	119	68.8%
	Male	53	30.6%
	Intersex/Undetermined	1	0.6%
Gender
	Woman	93	53.8%
	Man	55	31.8%
	Non-binary	21	12.1%
	Other	4	2.3%
Age
	Mean (SD): 32.6 (10.2), Range: 18–67 years
	18–28 years	77	45.0%
	29–38 years	55	31.8%
	39–48 years	26	15.0%
	49–58 years	12	6.9%
	59–68 years	3	1.7%
Person transcribing survey responses
	Myself	168	97.1%
	Parent/sibling	5	2.9%
Country of residence
	Australia	12	6.9%
	Canada	7	4.0%
	United Kingdom	33	19.1%
	United States	88	50.9%
	Other	33	19.1%
Race/ethnicity ('select all that apply')
	Asian	8
	Black, African American	11
	Hispanic or Latin American	19
	Middle Eastern or North African	4
	Native or Indigenous	11
	Native Hawaiian or Pacific Islander	5
	white, European	147
	Other	5
Level of education
	Some high school [secondary school] or less	3	1.7%
	High school diploma or GED	9	5.2%
	Trade school or vocational/technical certificate	5	2.9%
	Some college/university, no degree	23	13.3%
	Associate [two-year] degree	13	7.5%
	Bachelor's [four-year] degree	43	24.9%
	Some graduate/professional school, no degree	16	9.2%
	Master's degree	45	26.0%
	Doctorate or professional degree	16	9.2%
Autism diagnosis
	Provider-diagnosed	128	74.0%
	Self-diagnosed	45	26.0%
Do you have other chronic physical and/or mental health conditions, or disabilities
	No	73	42.2%
	Yes	100	57.8%

Participants' ages ranged from 18- to 67-years-old, with a disproportionately large subgroup of respondents (44.5%; n = 77) falling between 18- and 28-years-old. The following participant demographic results are outlined in Supplemental Table S1. Of our participants who received an autism diagnosis by a provider (74.0%, n = 128), the majority received their diagnosis from either a psychologist (42.9%, n = 55) or a psychiatrist (35.9%, n = 46). Age at the time of diagnosis ranged from 1- to 66-years-old, with 23.4% (n = 30) being diagnosed before the age of 18 and 76.5% (n = 98) being diagnosed at or after the age of 18. Nine participants (5.2%) reported a co-occurring diagnosed genetic condition or disorder potentially associated with autism (one 22q11.2 duplication, two unspecified autism-linked genetic findings received through the SPARK study, and six cases of Ehlers-Danlos syndrome). When asked about other family members being autistic, 53.2% (n = 92) of participants reported another autistic family member, and 9.8% (n = 17) reported a family member with a known genetic condition or disorder (Supplemental Table S1). Knowledge about autism genetics was on average fair (mean [SD] = 7.73 [1.56] out of 10 correct), with between 61.1–91.1% of the sample answering each of the knowledge questions correctly.

Of our 173 participants, 11.0% (n = 19) reported having genetic testing specifically for autism previously, with ages ranging from 3- to 42-years-old at the time of testing and 68.4% (n = 13) having testing at or after the age of 18. Some of our participants completed genetic testing for autism as part of a research study (57.9%, n = 11), such as SPARK (Feliciano et al., 2019; SPARK Consortium, 2018). Of the individuals who completed the ‘genetic counseling’ section of our survey (n = 150), 16.0% (n = 24) reported meeting with a genetic counselor, with ages at the time of genetic counseling ranging from 9- to 39-years-old and 83.3% (n = 20) having received genetic counseling at or after the age of 18 (M [SD] age of counseling = 22.96 [8.16] years). Notably, of the 24 individuals who previously met with a genetic counselor, 10 (41.6%) had previously received genetic testing for autism specifically, a rate much higher than the remainder of the sample (OR = 20.94, CI_95% [5.23, 104.15]).

3.2 | Beliefs and attitudes regarding genetic testing

3.2.1 | Comparing beliefs and attitudes between the yes-test and no-test group

We started by comparing the attitude and belief scores of participants who already completed genetic testing (referred to as the ‘yes-test’ group, n = 19) to participants with no prior genetic testing (referred to as the ‘no-test’ group, n = 154). As Table 2 outlines, the mean autism-specific belief composite score for the no-test group was 3.60 (between “Neutral” and “Slightly Disagree”), and the mean autism-specific belief composite score for the yes-test group was substantially higher at 4.94 (an average response between “Neutral” and “Slightly Agree”). This difference between groups was large and statistically significant (t(25.63) = 3.96, p < .001, d = 0.87, CI_95% [0.37, 1.36]). Alternatively, when examining between-group beliefs about genetic testing unrelated to autism (general beliefs), mean item score differences were very small and did not differ significantly between groups (t(23.12) = 0.09, p = .93, d = 0.02, CI_95% [-0.45, 0.49]), with mean scores of 5.59 (between “Slightly Agree” and “Agree”) in the no-test group and 5.61 (between “Slightly Agree” and “Agree”) in the yes-test group. Lastly, the attitudes toward genetics held by the participants were also higher in the yes-test group (M = 5.22, SD = 0.92) than the no-test group (M = 3.91, SD = 1.41), with these differences being large and statistically significant (t(29.55) = 5.46, p < .001, d = 1.10, CI_95% [0.61, 1.58]).

Table 2

Composite beliefs and attitudes data for yes-test and no-test groups.
Previous genetic testing for autism	n	Construct	Mean	SD	Range	Closest Anchor
Yes-test group	19	Autism-specific Beliefs	4.94	1.35	1.00–6.57	Slightly Agree
		General Beliefs	5.61	0.97	4.00–7.00	Agree
		Attitudes	5.22	0.92	3.70–6.50	Slightly Agree
No-test group	154	Autism-specific Beliefs	3.60	1.70	1.00–7.00	Neutral
		General Beliefs	5.59	1.01	1.00–7.00	Agree
		Attitudes	3.91	1.41	1.00–6.60	Neutral

3.2.2 | Correlations between the composite beliefs and attitudes

Within the total sample (N = 173), we additionally examined bivariate (Spearman) correlations between the three PCA-based item composites. The correlation between the “Autism-specific beliefs” and “Attitudes” components was very large (r_s = 0.798, CI_95% [0.731, 0.850], p < .001), although there were much more moderate positive correlations between “Autism-specific beliefs” and “General beliefs” (r_s = 0.256, CI_95% [0.109, 0.393], p < .001) and between “General beliefs” and “Attitudes” (r_s = 0.361, CI_95% [0.220, 0.487], p < .001). Correlations between the genetics knowledge composite and all beliefs/attitudes composite were negative and significant for both the “Autism-specific beliefs” (r_s = -0.247, CI_95% [-0.391, -0.091], p = .002) and “Attitudes” composites (r_s = -0.205, CI_95% [-0.352, -0.048], p = .011), but not the “General beliefs” composite (r_s = 0.110, CI_95% [-0.048, 0.263], p = .171).

3.3 | Genetic counseling beliefs

Overall, our respondents had positive beliefs regarding genetic counseling (n = 150), with 73.3% agreeing to any extent that “autistic individuals would benefit from talking with a genetic counselor about their genetic testing results” (mean item score: 4.98/7), 54.7% agreeing to any extent that “autistic individuals would benefit from talking with a genetic counselor about genetic testing options not related to autism” (mean item score: 4.49/7), 54.0% agreeing that “an autistic couple interested in family planning would benefit from talking with a genetic counselor” (mean item score: 4.42/7), 47.3% agreeing to any extent that “autistic individuals would benefit from talking with a genetic counselor about their autism diagnosis” (mean item score: 3.95/7), and 51.3% agreeing to any extent that “autistic individuals would benefit from talking with a genetic counselor about genetic testing options for autism” (mean item score: 3.99/7). Overall, a total of 78.6% of participants (77.3% when excluding the “genetic testing options not related to autism” item) endorsed at least one of these roles of genetic counselors in the clinical care of autistic individuals. Additionally, 88.7% of participants agreed to any extent that “if my family had a hereditary condition (e.g., cystic fibrosis, familial hypercholesterolemia), I would be interested in talking with a genetic counselor about my chance to also have that condition” (mean item score: 5.63/7). When asked about “interest in talking with a genetic counselor about the chance for a child/pregnancy to have autism,” only 35.3% agreed to any extent, while 13.3% were neutral, and 51.3% disagreed to some extent (mean item score: 3.29/7).

3.4 | Other factors impacting intention

Regarding the cost of genetic testing for autism, 53.8% of participants agreed to some extent that testing is expensive, 39.9% were “Neutral,” and the remaining 6.4% disagreed to some extent (mean item score: 5.00/7). When asked about privacy, 46.8% agreed to some extent that “genetic testing results are kept private,” 32.4% were “Neutral,” and 20.8% disagreed to some extent (mean item score: 4.60/7). Lastly, 57.8% of our participants agreed to some extent that “genetic testing leads to discrimination,” with 17.3% being “Neutral,” and 24.9% disagreeing to some extent (mean item score: 4.66/7).

3.5 | Intention to pursue genetic testing

Intention questions were based on a 5-point Likert scale indicating one’s likelihood to pursue a specific test for oneself or one’s (hypothetical) children. The following four intention items were assessed: (1) intention to pursue genetic testing for autism in the future for themselves (excluding individuals who had already received genetic testing for autism, i.e., the yes-test group), (2) intention to pursue genetic testing for autism for their children or future children (if applicable), (3) intention to pursue genetic testing not related to autism in the future for themselves, and (4) intention to pursue genetic testing not related to autism for their children or future children (if applicable). Of the respondents, 25 (14.5%) indicated on at least one question that they do not plan on having children, so these individuals were excluded from all questions on pursuing testing for future children. The remaining respondents were either 25.7% “Likely” or 14.2% “Extremely Likely” to pursue genetic testing not related to autism for future children, with 31.1% being “Neutral,” 17.6% being “Unlikely,” and 11.5% being “Extremely Unlikely” (mean item score: 3.14/5). In regards to genetic testing specifically for autism in future children, 18.2% of participants expressed being “Likely” to pursue testing, 12.8% reported being “Extremely Likely,” with 13.5% being “Neutral,” 15.5% being “Unlikely,” and 39.9% being “Extremely Unlikely” (mean item score: 2.49/5). When asked about the likelihood of pursuing genetic testing for oneself not related to autism, 32.9% were “Likely,” 9.8% were “Extremely Likely,” 28.3% were “Neutral,” 19.7% were “Unlikely,” and 9.2% were “Extremely Unlikely” (mean item score: 3.14/5). Pertaining to genetic testing for oneself related to autism (excluding yes-test group), 26.6% were “Likely,” 3.2% were “Extremely Likely,” 7.1% were “Neutral,” 18.8% were “Unlikely,” and 44.2% were “Extremely Unlikely” (mean item score: 2.26/5). When comparing the yes-test and no-test groups on the three intention items completed by both groups (using Brunner-Munzel tests), the yes-test group reported significantly higher intention to test in all cases (Test self for non-autism: t(27.47) = 4.58, p < .001, p̂ = .730, CI_95% [.627, .833]; Test children for autism: t(28.22) = 8.75, p < .001, p̂ = .848, CI_95% [.767, .930]; Test children for non-autism: (21.62) = 3.32, p = .003, p̂ = .711, CI_95% [.579, .843]).

Our regression analyses revealed significant associations between the attitudes component, autism-specific beliefs component, and all four intention questions at the Bonferroni-Holm correction level, with more positive attitudes or beliefs about testing associated with more intention to test oneself or one’s future children (ORs ranging from 1.59 to 10.97; Table 3). Similarly, higher endorsement of (positive) autism-specific beliefs regarding genetic testing was associated with more intention to test oneself or one’s children (ORs ranging from 1.59 to 5.98). Additionally, we found a significant association between higher scores on the general beliefs component (more positive general beliefs about genetic testing) and the intention to pursue genetic testing unrelated to autism (OR = 2.35, CI_95% [1.69, 3.26], p < .001). None of the associations with self-diagnosis or family member status survived corrections for multiple comparisons.

Finally, when examining the effect of prior knowledge about autism genetics on intention to pursue autism-relevant genetic testing, results were mixed. In our sample, higher knowledge composite scores (i.e., more genetics knowledge) were associated with less reported intention to test both oneself and one’s child for autism-related genetic mutations (Supplemental Table S3), although only the association with intention to test oneself remained after controlling for relevant beliefs and attitudes.

Table 3

Ordinal regression analyses assessing associations with intention
		OR [95% CI]	p_Holm
Intention to pursue genetic testing not related to autism for yourself in the future
	Attitude Component	1.80 [1.30, 2.48]	0.005
	General Beliefs Component	2.35 [1.69, 3.26]	5.04 × 10^− 6
	Specific (Autism-Related) Beliefs Component	1.59 [1.16, 2.19]	0.047
	Family History of Autism	1.34 [0.76, 2.37]	0.93
	Lack of Professional Diagnosis	0.87 [0.46, 1.63]	1.00
Intention to pursue genetic testing not related to autism for your children or future children
	Attitude Component	1.72 [1.23, 2.41]	0.002
	General Beliefs Component	1.57 [1.12, 2.19]	0.088
	Specific (Autism-Related) Beliefs Component	1.84 [1.30, 2.59]	0.007
	Family History of Autism	0.673 [0.355, 1.28]	0.90
	Lack of Professional Diagnosis	0.925 [0.473, 1.81]	1.00
Intention to pursue genetic testing for autism for yourself in the future
	Attitude Component	10.72 [5.97, 19.24]	3.59 × 10^− 14
	General Beliefs Component	1.42 [0.999, 2.02]	0.252
	Specific (Autism-Related) Beliefs Component	5.31 [3.35, 8.41]	2.22 × 10^− 11
	Family History of Autism	0.410 [0.212, 0.792]	0.088
	Lack of Professional Diagnosis	2.44 [1.19, 5.01]	0.101
Intention to pursue genetic testing for autism for your children or future children
	Attitude Component	10.97 [6.24, 19.29]	1.78 × 10^− 15
	General Beliefs Component	1.61 [1.10, 2.36]	0.101
	Specific (Autism-Related) Beliefs Component	5.98 [3.70, 9.67]	5.32 × 10^− 12
	Family History of Autism	0.417 [0.215, 0.811]	0.088
	Lack of Professional Diagnosis	2.66 [1.27, 5.56]	0.088
Note. All rows represent focal hypothesis tests from independent proportional-odds logistic regression models (each adjusting for age, gender, and education). None of the regressions controlled for any other principal components or family history/diagnostic status. Bolded tests are significant at the p < 0.05 level after Bonferroni-Holm correction.

3.6 | Participants’ written responses

Optional free-text responses varied from our participants. Optimistic, but few, perspectives came from those who had already completed genetic testing for autism. One participant wrote:

“Receiving a genetic diagnosis was very reassuring because it verified and substantiated the clinical diagnoses I have received over the past 20 years. I have always felt like an imposter, just misunderstood but not possibly autistic…I feel remarkably better about my official clinical autism diagnosis.” – 43-year-old clinically diagnosed at age 16 and genetic testing completed at age 42

Several participants additionally wrote about the potential of genetic testing to provide clinically-relevant information (either now or in the future) about an individual’s autism, other neurodivergence, or physical/mental health issues, as well as available health management opportunities based on this information. One participant wrote:

“Right now I'm interested in genetic testing because I'm in the camp of "many autisms" and if specific genetic defects/polymorphisms are causing different autism profiles, finding them helps target treatments (and by treatments I mean symptom management of distressing symptoms, medication or otherwise)...” – 35-year-old clinically diagnosed at age 35 by multidisciplinary team in Netherlands

But many other autistics expressed concerns about consent, utility, discrimination, and stigmatization surrounding genetic testing for autism. Being able to assent or consent for testing is important to many autistics and one participant shared:

“Like anything, a choice is useful.” – 58-year-old clinically diagnosed at age 58 by primary care provider

And another wrote:

“Autism genetic testing should follow the advice of patients themselves.” – 30-year-old clinically diagnosed at age 1

Indeed, many expressed an ambivalence about genetic testing, with some feeling that there was utility in some aspects of autism clinical care but not others, or that some forms of genetic testing were warranted but others may be used in unethical, harmful, or unproductive ways. One wrote:

“I have concerns that increased genetic testing for autism may lead to selective termination or curative approaches. I am more interested in genetic answers to conditions such as EDS (Ehlers-Danlos syndrome), which are known to be genetic and that frequently co-occur with autism.” – 37-year-old in USA, clinically diagnosed at age 35

And another wrote:

“I think for syndromic autism it is very valuable. However, autism that is not connected to other developmental syndromes or intellectual disability doesn't strongly benefit from genetic testing. I believe that most autism is from epigenetic factors and therefore there is no one gene that is going to say if someone has autism. Additionally I think pursuing a gene for autism could invalidate a lot of autistic people who may not have the same mutation.” – 23-year-old in USA with Ehlers-Danlos syndrome, clinically diagnosed at age 13

Prioritizing the autistic community's needs was another common thread by our respondents with one sharing:

“There is no need for genetic testing in autism. What is most important is that we have community members we can connect with, but a genetic test does not help us form that community. The core features of autism…are [what help] me connect with other autistics, not the shared genetic markers. I worry that genetic testing for autism will further pathologize the condition and lead to increased stigmatization.” – 31-year-old in USA who identifies as autistic, but has not been professionally diagnosed

And another expressing:

“I understand autism as a framework for how a person thinks/behaves rather than a disorder that needs to be cured. Overall, I feel that educating parents/community members about autism through the social model of disability is invaluable and should be prioritized over preventing autism.” – 26-year-old in USA who identifies as autistic, but has not been professionally diagnosed

Lastly, a sizable number of autistic participants objected outright to genetic testing in principle, expressing variants of the perspective that any investigation into the cause(s) of autism would be inevitably tied to discrimination against autistic people, selective abortion based on testing results, and/or additional discourse around treating/curing autism, which they fundamentally disagreed with. These perspectives varied in the strength of their opposition and whether or not they additionally mentioned behavioral autism interventions as something they additionally felt was harmful or fundamentally wrong (see Chapman & Bovell, 2022; Graber & Graber, 2023 for more on this issue). One participant wrote:

“... While in some ways finding a genetic cause and test would be fascinating from a scientific and personal point of view I would worry about how it will be used by wider society. I feel like it will become a social engineering measure to breed autism out of the population which is a scary and undesirable prospect. Many pregnant people report being pressured to take the test for Down Syndrome. I fear the same would be true for autism.” – 29-year-old in the UK, clinically diagnosed at age 6

Stated even more bluntly by a different participant:

“Knowing the genetic role to being autistic doesn't help improve our lives and will lead to more discourse around "curing" autism when being autistic is not bad and doesn't need to be cured. Also, improving access to ABA should not be the goal because ABA is extremely harmful to autistic people… Autistic people don't need treatment, we need understanding and accommodations in society. The genetic counselling community should be aware of the risks for eugenics and violence that comes with searching for a genetic cause for autistic people.” – 26-year-old in Canada who identifies as autistic, but has not been professionally diagnosed

Our study is one of the first, large-scale studies to assess autistic adults’ beliefs and attitudes about genetic testing, describe autistics’ intention to pursue genetic testing, and report novel descriptive data from autistic adults. Overall, our participants' responses were varied; Some beliefs and attitudes leaned strongly positive and others strongly negative, with median responses trending in the mildly positive range. Despite concerns about representativeness of the autistic community (due to convenience sampling in our study population), it’s unlikely that community sentiment is overwhelmingly positive or negative towards genetic testing. Positive autism-specific beliefs and attitudes were strongly correlated with each other, but only weakly correlated with positive beliefs about genetic testing in general and with knowledge of autism genetics. Only autism-specific beliefs and attitudes significantly predicted intention to genetically test oneself or one’s hypothetical children, except in the instance of testing oneself for conditions unrelated to autism, which was also predicted by general genetic testing beliefs. A small number of autistic adults in this sample had undergone genetic testing, several of which participated via research studies like SPARK (2018). Those who had undergone these tests typically had more positive beliefs about genetic testing for autism, and more positive attitudes toward genetic testing in general. However, these individuals did not differ in their beliefs about genetic testing unrelated to autism. Though these results support our TPB-based model of genetic testing in our population, it is notable that we did not specifically test the causal relations between variables, and only cross-sectional associations were examined.

Our study shows that autistic individuals who previously had genetic testing for autism (yes-test group, 11.0%, n = 19) have more favorable autism-specific beliefs and positive attitudes about genetic testing for autism specifically, despite no difference in overall level of positive beliefs about genetic testing in general. Of note, 57.9% (n = 11) of our yes-test group received their genetic testing as a part of a research study, like the SPARK study through the Simon Foundation (Feliciano et al., 2019). When considering why this group had more favorable beliefs and attitudes, one explanation could be that genetic testing has actually been beneficial and the yes-test group’s beliefs and attitudes were influenced by the positive results of testing. For example, 89.5% (n = 17) reported testing helped to get or confirm their autism diagnosis. This is an interesting finding because clinicians do not use genetic testing to confirm an autism diagnosis since the diagnosis is defined by clinical criteria, and that criteria does not include confirmatory genetic testing (Schaefer and Mendelsohn, 2013). Perhaps for some individuals, confirming a clinical diagnosis with genetic testing is impactful because it validates their experiences in ending a diagnostic odyssey (Lucas et al., 2021; Harrington et al., 2018). Having a diagnosis confirmed by genetic testing could also help an individual in building an identity or bring a sense of belonging within a community. Of our yes-test group, 73.7% (n = 14) felt that genetic testing was beneficial because it gave them more information about themselves. Another reason for the differences between yes- and no-test groups is that individuals who had more positive beliefs and attitudes about genetic testing for autism were more likely to seek out genetic testing in the first place. Given that we do not have any longitudinal data to corroborate this, we can only speculate on the matter. In their own words, our yes-test respondents cited the following benefits regarding genetic testing for autism in the survey’s optional free-texts: targeted and early treatment, confirming and validating clinical diagnosis, understanding impact in family planning, increased knowledge, and understanding etiology.

We recognize that there are many influences on an autistic person’s intention to pursue genetic testing. In the optional free-text portions of our survey, participants shared various perspectives about the pros and cons of genetic testing for autism. The diversity of the responses emphasizes the complex and nuanced reasons an autistic individual may pursue or decline genetic testing for autism. Those supporting benefits of genetic testing include validation of a clinical diagnosis and alleviating imposter syndrome. Given that many autistics in our study have co-occurring conditions (57.8%, n = 100 ), a proportion expressed an interest in genetic testing with the hope of managing and treating coexisting conditions and symptoms. Additionally, some felt that genetic testing for autism is only valuable for syndromic autism versus isolated autism that is not associated with a developmental or intellectual disability. Many individuals shared a perspective that genetic testing for autism is expensive (53.8%, n = 93) and this finding is reported in other studies as well (Harrington et al., 2018; Johannessen et al., 2017; Li et al., 2016). Along with expense, many participants (46.8%, n = 81) expressed worry about privacy of genetic testing for autism, with 32.4% (n = 56) being ‘Neutral.’ Worry over privacy is a common theme in similar studies (Ellis and Asbury, 2023; Johannessen et al., 2017; Li et al., 2016; Wagner et al., 2020).

With the majority of our participants (57.8%, n = 100) agreeing that genetic testing leads to discrimination, several free-text responses focused on this matter. For example, one respondent shared:

I'm experiencing extreme levels of discrimination without genetic testing for autism, I could only imagine how much worse it would be if there was genetic evidence involved.

Discrimination is a main concern for the autistic community as reported in the ASAN genetic research letter and expressed in other studies (ASAN, 2022; Byres et al., 2023; Ellis and Asbury, 2023). Additionally, there has been ethical outrage on the potential for genetic testing to lead to finding a cure for autism or increase terminations for pregnancies with a high chance for autism (ASAN, 2022; Byres et al., 2023; Ellis and Asbury, 2023; Pellicano and Stears, 2011). One respondent stated:

I am extremely worried about well-intentioned autism genetic research being used for eugenics. I constantly hope that scientific research is unsuccessful at identifying the genes behind autism.

Instead of focusing efforts on genetic testing for autism, some participants expressed the importance of community support and understanding, and appropriate societal accommodations. Finding connection with others in the autistic community was far more valuable to some participants than pursuing genetic testing for autism. Ultimately, the motivations for and against pursuing autism genetic testing are deeply personal and complex, and autistic adults should feel empowered regardless of their intention to test.

...[Autism] is a way of being. I would never be anyone other than me. I love my perception. Autism is more, not less.

4.1 | Study Limitations

One limitation of this study is that the sample population may not be a comprehensive representation of the autistic community at large. Internet access and the ability to communicate in English were requirements of our autistic respondents to successfully complete our survey. We recognize that autistic individuals communicate in a variety of ways, such as, speaking, sign language, and with use of augmentative and alternative communication devices (computers and tablets). For this reason, we aimed to make the survey more accessible by supporting the participation of individuals who filled out the survey with the help of a support person (e.g., a parent or sibling transcribing the autistic person’s survey answers). However, of all our participants, only 2.9% (n = 5) completed our survey with the assistance of a parent or sibling transcribing responses. While this is a small start towards the inclusion of the broader autistic community, continual development of more cognitively-accessible survey tools is needed going forward to ensure that individuals with borderline or less significant intellectual impairments who are able to self-report can continue to do so (Nicolaidis et al., 2020). Additionally, as recruitment was mainly done through Twitter and social media groups, this may have biased the sample toward more polarized opinions on autism and genetics, given that many of the autistic self-advocates on these platforms are known to have quite strong beliefs on the topic, and those who took the time to answer the questions are likely those who were the ones with the strongest opinions. Future studies on this topic will likely generate more accurate and unbiased estimates if participants are recruited from more diverse sources and attitudes about genetic testing are embedded in larger sets of questions about other topics (such that participation in the study is not contingent on desire to answer questions about autism genetics). Finally, we acknowledge that only a small portion of our sample population previously had genetic testing for autism (11.0%, n = 19). It may be difficult to generalize the genetic testing experience of 19 autistic individuals (particularly when so few report positive genetic findings or autism-linked genetic syndromes), so more focus is needed on this subpopulation to better summarize the perceived benefits, beliefs, attitudes and impact genetic testing has within the autistic community. Despite this proportion being quite small, it is nevertheless more than double the fraction of participants reporting previous genetic testing in the one comparable study of autistic adults’ attitudes on genetics to date (5%, Byres et al., 2023).

4.2 | Practice Implications

Genetic counselors are uniquely positioned to advocate for marginalized communities, including autistic and other neurodivergent individuals. This study has the ability to inform genetic counselors on the current climate of genetic testing for causes of autism. Additionally, when it comes to counseling patients and families with regards to autism, genetic counselors will have a holistic perspective of parents-with-autistic-children-based research and autistic-adult-focused research. Results from this study have important implications for genetic counselors in the pre-test counseling setting. Our data can help parents understand potential, future opinions of their autistic children regarding genetic testing, and provide insight into potential attitudes about the need for autonomy in making a decision about testing. These results also inform genetic counselors that autistic adults may have a number of concerns about the way genetic information is used with regard to autism, and this can cause them to hold opinions about genetic testing for autism (ranging from ambivalence to complete opposition) even when they otherwise feel positively about genetic testing (and may therefore seek out genetic counseling for other reasons). Moreover, considering that some participants felt that genetic diagnoses validated their clinical autism diagnoses, sufficient pre-test counseling is imperative to help patients and their families navigate the various emotions that come not only with positive genetic findings, but that also come with negative results (i.e., no genetic findings identified). With these perspectives, genetic counselors can help mediate differing opinions between parents, autistics, researchers, and healthcare providers.

In summary, our study synthesized autistic adult perceptions regarding genetic testing for autism and genetic testing in general. We compared two subpopulations, those who previously had genetic testing for autism and and those who have not, to better understand the autistic communities beliefs, attitudes, and intentions with respect to autism genetic testing. Positive autism-specific beliefs and attitudes were strongly correlated with each other, but only weakly correlated with positive beliefs about genetic testing in general and with knowledge of autism genetics. Intention to pursue autism genetic testing and genetic testing in general for oneself or one’s hypothetical children was significantly and primarily predicted by autism-specific beliefs and attitudes. Our study offers genetic counselors multifaceted perspectives when counseling about autism and can help them advocate for the healthcare needs of autistics.

Author Contributions:

Conceptualization: TG, KT, GH

Data curation: ZJW, TG

Formal analysis: TG, MN, ZJW, GH

Methodology: ZJW, MN, GH

Funding acquisition: TG, KT

Project administration: TG, KT

Supervision: ZJW, KT, GH

Validation: TG

Visualization: TG

Writing - original draft: TG

Writing - review and editing: ZJW, KT, LD

Authors TG and ZJW confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Acknowledgements

This research study was conducted by the first author, Tielle Gallion, as part of her degree requirement for the Master of Genetic Counseling program at Vanderbilt University School of Medicine. Financial support for this study was provided by the Vanderbilt University Master of Genetic Counseling program.

Conflict of Interest

Zachary J. Williams has received consulting fees from Roche, Autism Speaks, and the May Institute, and he owns stock in Acadia Therapeutics. He is also a member of the Autistic & Neurodivergent Scholars Working for Equity in Research (ANSWER) committee of the Autism Intervention Network on Physical Health (AIR-P). Gillian Hooker is an employee of Concert Genetics. Tielle Gallion, Maria Niarchou, Laura Duncan and Kelly Taylor declare that they have no conflict of interest.

Human Studies and Informed Consent

This study was approved by and conducted according to the ethical standards of the Institutional Review Board of Vanderbilt University Medical Center. Informed consent was obtained from all participants in this study.

Animal Studies

No non-human animal studies were carried out by the authors for this article.

Data Availability Statement

The data that support the findings of this study are available from the corresponding author upon reasonable request, subject to any restrictions from our Institutional Review Board at the time of request.

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The authors declare potential competing interests as follows: Zachary J. Williams has received consulting fees from Roche, Autism Speaks, and the May Institute, and he owns stock in Acadia Therapeutics. He is also a member of the Autistic & Neurodivergent Scholars Working for Equity in Research (ANSWER) committee of the Autism Intervention Network on Physical Health (AIR-P). Gillian Hooker is an employee of Concert Genetics. Tielle Gallion, Maria Niarchou, Laura Duncan and Kelly Taylor declare that they have no conflict of interest.

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Attitudes of Autistic Adults toward Genetic Testing for Autism

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Abstract

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A note about language

What is known about this topic

What this paper adds to the topic

1 | INTRODUCTION

2 | MATERIALS AND METHODS

2.1 | Community involvement statement

2.2 | Survey instrument

2.3 | Participants and procedures

2.4 | Data analysis

[Intention question] ~ [Predictor of interest] + age + gender + level of education

3 | RESULTS

3.1 | Participant characteristics

3.2 | Beliefs and attitudes regarding genetic testing

3.2.1 | Comparing beliefs and attitudes between the yes-test and no-test group

3.2.2 | Correlations between the composite beliefs and attitudes

3.3 | Genetic counseling beliefs

3.4 | Other factors impacting intention

3.5 | Intention to pursue genetic testing

3.6 | Participants’ written responses

4 | DISCUSSION

4.1 | Study Limitations

4.2 | Practice Implications

5 | CONCLUSIONS

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References

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