Autism Spectrum Disorders (ASD) represent a group of highly inheritable disorders [
Research on the clinical benefits/usage of CMA has shown that this test can potentially help ASD patients and their families to explain the causal link of genetics and autism, predict the recurrence risk, help develop timely treatment (medical, educational, and behavioral) plans, and guide parental decision on reproductive options [
Although CMA has proven to be a more powerful technology in detecting genetic variations over conventional cytogenetic tests [
Albeit CMA has both potential benefits and harms, parents’ awareness and interest in taking their children with ASD to undergo CMA are still largely unknown. To ensure adequate access to genetic technologies and to reduce the potential negative impact of concerns regarding CMA, there is an immediate need to understand perspectives from parents of children with ASD regarding their awareness, motivations, and inhibitors regarding undergoing CMA testing, including testing themselves and their affected children.
This study focused on parents of children with ASD in Eastern North Carolina (ENC), which is rural area that serves a largely diverse, agricultural, and economically challenged area of the state. ASD identification in North Carolina (1 in 58) is higher than the national average (1 in 68) [
This study was part of a larger pilot research project investigating the genetic literacy, education needs, and decisions with regard to CMA genetic testing among parents of children with ASD in ENC. We sought to address three main questions in this particular study. (1) Are parents of children with ASD aware of the availability of CMA testing? (2) What are motivating factors for parents to participate in CMA testing? (3) What do parents identify as barriers that would keep them from participating in CMA testing? The questions we asked containing parents’ motivations and barriers associated with both taking their children to undergo the test and test themselves. Our investigations specifically related to parents’ perceptions on undergoing prenatal CMA were not reported in this paper. Parents were informed that their answers should be provided in a hypothetical scenario.
Based on the current literature and our previous published work [
The reasons we adopted this qualitative research method are threefold: (1) qualitative methods are more relevant for research areas that have not been adequately researched before, (2) qualitative methods are advantageous in procuring in-depth information about a largely unknown topic, and (3) qualitative methods are powerful in understanding a complex decision-making process [
A snowball sampling technique was used to recruit parents of children with ASD living in ENC [
Our initial recruitment team was composed of three researchers who specialize in public health genomics, social behavioral sciences, and special education. We also used a train-the-trainer model and recruited one community member who was bilingual (English/Spanish) and worked with Hispanic families who have children with ASD due to the vast Hispanic population that is present in ENC. Prior to implementation, approval was acquired from the Institutional Review Board at East Carolina University.
In order to protect confidentiality, participant information was coded using a numerical system. A master list of participants was kept in the office of the lead researcher (LX) in order to complete reality checks during data analysis.
Prior to the interview, the purpose of the study as well as the consent document for participation was reviewed with each participant. We also provided brief information regarding CMA genetic testing at the beginning of each interview session. Interviews lasted 45–60 minutes. Information was provided in Spanish for those who were non-English speaking. The community bilingual specialist conducted the interviews for Spanish-speaking participants. All interviews were audio recorded in order to provide a reliability check for information. Researchers also collected field notes during the interviews to ensure that all related information was collected. Each parent received $40 gift card for participation.
Each interview was transcribed verbatim and analyzed using Nvivo 10 [
As illustrated by Table
Sample characteristics (
Characteristics |
|
---|---|
Participants’ age: mean (range) | 39.1 years (24–60) |
Spouses’ age: mean (range) | 38.3 years (24–60) |
Gender | |
Females (mothers) | 27 (60) |
Males (fathers) | 18 (40) |
Number of children with ASD | |
Boys | 35 (79.5) |
Girls | 9 (20.5) |
Race/ethnicity | |
White | 25 (55.5) |
Hispanic/Latino | 14 (31.1) |
Black | 4 (8.9) |
American Indian/Alaskan native | 1 (2.2) |
Others | 1 (2.2) |
Education | |
High school diploma or less | 16 (35.6) |
Some college | 4 (8.9) |
College graduate or above | 25 (55.5) |
Employment status | |
Employed | 32 (71.1) |
Homemaker | 11 (24.4) |
Not employed | 2 (4.4) |
Annual household income | |
< |
7 (15.6) |
|
11 (24.4) |
|
8 (17.8) |
|
5 (11.1) |
|
6 (13.3) |
Over |
8 (17.8) |
Participants not born in USA | 15 (33.3) |
Child’s age of diagnosis: mean (range) | 4.3 years (1.5–13) |
Severity level | |
Level 1 (mild) | 4 (9.1) |
Level 2 (moderate) | 23 (52.3) |
Level 3 (severe) | 11 (25) |
Answer not provided | 6 (13.6) |
Based on parents’ perspectives on undergoing ASD genetic testing, three main themes emerged from the data: parental awareness of CMA genetic testing, test motivations, and perceived barriers to undergoing CMA genetic testing.
Before we asked parents their attitudes toward CMA genetic testing, we asked parents “what is the first word that comes to your mind when you hear the word genetics.” Then we provided brief information about CMA (e.g., what did CMA stand for, what was CMA, and what is the testing procedure). Regardless of the diverse socioeconomic status, none of the 45 parents reported that they were knowledgeable of CMA. One of the fathers with twin boys who was highly educated and had previous training in molecular genetics reported that he never knew that CMA was a genetic test that was available to his children (twins) with ASD. According to him,
Another mother who also doubted that anyone in the local autism community had heard of the test before commented that
Table
Motivators for participants with at least one child with ASD to participate in CMA genetic testing (
Theme |
|
Illustrative quote |
---|---|---|
Helping identify a potential cause of autism | 21 (46.7) |
|
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Preparing for having another child with ASD | 21 (46.7) |
|
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||
Family planning | 18 (40) |
|
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||
Early intervention | 17 (37.8) |
|
|
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Research to benefit other families | 15 (33.3) |
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Benefit their own child with autism | 14 (31.1) |
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Getting to know the recurrence risk | 8 (17.7) |
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Confirming autism diagnosis | 3 (6.7) |
|
In addition to identifying participants’ motivations to participate in CMA genetic testing, the research team also synthesized the barriers and reservations parents had before testing themselves and their children (Table
Barriers for participants with at least one child with ASD that would keep them from participating in CMA genetic testing (
Theme |
|
Illustrative quote |
---|---|---|
Cost | 33 (73.3) |
|
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||
Risk and pain associated with testing | 17 (37.8) |
|
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Fear of result | 14 (33.3) |
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Lack of motivation for testing | 7 (15.6) |
|
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Transportation and/or scheduling Issues | 6 (13.3) |
|
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Lack of knowledge about testing | 5 (11.1) |
|
A portion of participants (15.6%,
This exploratory study highlights important findings and applications associated with parents’ before-testing perceptions of CMA. The unique value of this empirical research is fourfold: first, our study was among the first community-based studies that investigated the willingness/motivations related to CMA genetic testing among parents with at least once child diagnosed with ASD. Previous investigations on genetic testing for autism were primarily conducted in clinical settings [
Second, half of our participants were spouses who participated in our study and were interviewed individually. Past studies had investigated couples’ perceptions of undergoing genetic testing for other conditions, such as bipolar disorders and cystic fibrosis, and found that couples had different viewpoints on having themselves or spouses tested for the genetic conditions run in the families [
Third, our study was one of the first studies that addressed the perceptions particularly from low-income parents with diverse ethnicities; for instance, over one-third of our participants were Hispanic/Latino and all were Medicaid eligible. The average age of these Hispanic participants was below 40 (they are still at the reproductive age) and they showed keen interest in undergoing the test if it is available. Before our interviews, we asked parents which language they would prefer, most of them (13 out of the 14 Latino parents) preferred to be interviewed in Spanish. All of these participants mentioned that the cost of testing was the biggest barrier that might hinder their actual behavior of taking their children to undergo the test. Future educational interventions need to be linguistically sensitive for ethnic minorities. This design can enhance both their willingness to participate in the genetic research projects and also the comfort level of sharing information with the researchers.
Fourth, another salient finding of our study was that the overwhelming majority of our participants (almost 85%) showed interest and indicated motivation to either take their children to undergo CMA genetic testing or participate in the testing themselves. We found that parents’ favorable positon towards CMA was slightly higher than two prior published studies that explored parents’ attitudes and interest towards genetic testing for autism [
Parents’ lack of awareness of CMA testing might reflect parents’ limited access to medical professionals, such as genetic counselors, medical geneticists, and pediatricians who can order the CMA testing for the children affected with ASD. Also, genetic testing/assessments were usually not provided before children complete/go through a long diagnostic process. Parents might be referred by primary care practitioners to speak to a medical geneticist or genetic counselor after the initial diagnosis; however, none of the parents in our study, as we discussed, had been referred to any genetic specialists about CMA testing. This might be contributed to the limited resources due to the fact that parents in our study live in relatively underserved areas. For instance, in the specific geographic location where this study was conducted, no genetic counselors are available who might provide the information regarding undergoing CMA for parents and children with ASD. During our research, participating parents queried who they could ask about CMA and who could provide any counseling or education sessions for them. Given the limited number of genetic counselors, health education specialists are in a better position of providing educational resources to parents pertaining to CMA testing. Providers need to be aware of parents’ lack of understanding of CMA, particularly among low-income parents. Our study also suggests the necessity of providing pretest counseling strategies that can be incorporated into the educational materials.
Several limitations of this research deserve attention when interpreting the results. First, our recruitment strategy aimed to reach parents of children with at least one child diagnosed with ASD. However, although we recruited participants from various ASD communities in ENC, the diagnosis and the severity level were self-reported by the participants themselves. We were not able to confirm the information claimed by parents. Second, parents’ attitudes toward CMA genetic testing involved a hypothetical scenario of undergoing the test. We realize that our findings might differ from the actual situations where parents decide to test themselves or take their children to undergo CMA.
Genetic education and counseling tailored to parents of children with ASD are needed. As one of the first studies that explored parents’ attitudes toward CMA, our results indicate a clear need for supporting the genetic services/education interventions for people and families affected with ASD, particularly in economically disadvantaged regions. Future studies might consider using a quantitative method with a larger sample size, such as surveys in various forms, to better understand parents’ attitudes toward CMA genetic testing. In order to maximize the quality of genetic services related to CMA genetic testing, educational efforts should be implemented among clinicians, genetic counselors, and other health professionals, particularly in the context of precounselling stage prior to offering CMA to parents and their children with ASD.
There are no competing interests that exist for each author listed in this paper.
The authors want to give special acknowledgments to all parents of children who were willing to participate in this qualitative study.