Introduction:
Autism spectrum disorder (ASD) is associated with numerous genetic syndromes1. Practice guidelines from various medical specialties such as AACAP, the American College of Medical Genetics, American Neurological Association, and the American Academy of Pediatrics indicate that genetic testing should be part of the evaluation for ASD1–4. Studies have shown, however, that many patients do not receive indicated genetic testing; reported rates of testing vary widely, from as low as 1.5% to 60% of patients receiving genetic testing as part of the evaluation for ASD4–8. Child and adolescent psychiatrists (CAP) practicing in the US (~8300)9 far outnumber developmental behavioral pediatricians (~900) and child neurologists (~900), but in one study CAP were the least likely to order genetic testing during the evaluation of patients with ASD diagnoses6. Thus, it is critical to understand CAP attitudes toward and barriers to genetic testing to optimize adherence to practice guidelines for appropriate genetic testing in people with ASD. A survey to capture the current practice, knowledge, and perceptions towards genetic testing was developed by content matter experts that included child and adolescent psychiatrists, psychologists, and genetic counselors, as well as lawyers, anthropologists, and bioethicists with expertise in ethical, legal, and social implications of genetics.
Methods:
The survey was refined using the Delphi method involving an expert panel10. The finalized survey consisted of 47 questions with sections assessing current practices, opinions, and self-rated knowledge about diagnostic genetic testing, pharmacogenomic testing, and polygenic risk scores in the context of child and adolescent psychiatry. Items used for this report are available as Supplement 1, available online. Here, we only present data on knowledge and perceptions of utility about diagnostic genetic testing. The electronic version of the survey was distributed over a 4-week period ending in June 2020. Participants were recruited from several sources: academic department websites; publicly available listservs and professional organizations; and venues including national and international professional meetings. Web searches were utilized to identify other sources of publicly available contact information for child and adolescent psychiatrists (websites, listservs, social media, web groups). Further contacts were obtained from initial contacts (snowball sampling). Analysis was limited to individuals practicing in the United States. The study was approved by the Baylor College School of Medicine institutional review board. Subject recruitment and groupings are presented in Supplement 2, available online.
An invitation to participate in the survey was sent to 5,677 emails. We obtained 962 completed surveys with a 16.9% completion rate which reflects ≈11.6% of CAP in current practice in the US9. Survey results were collected using Qualtrics™. Survey responses for questions about knowledge and utility were rated on a 4-point scale. Knowledge and ability questions were rated 1 - Very poor, 2 - poor, 3 - good, 4 - very good, and questions about utility were scaled 1 - Not at all useful, 2 - Slightly useful, 3 - moderately useful, 4 - Very useful. Group differences between those that had ordered a genetic test related to ASD compared to those that had not were ascertained with chi-square or logistic regression for categorical outcomes and analysis of variance (ANOVA) for continuous measures.
Results:
Sociodemographic characteristics as well as the responses to survey questions are presented in Table 1.
Table 1: Demographics and Genetic Testing Habits of Survey Respondents.
The demographics of the survey respondents with CAP training ascertained by self-response. Multiple responses were permitted for the responses to the questions regarding gender and racial/ ethnic identities, and clinical practice. a Other includes Trans man/Trans male, Trans female/Trans woman, Genderqueer/gender non-conforming, other specified, unspecified). b Other includes American Indian, Native American, Alaska Native, Middle Eastern or Northern African/Mediterranean, Native Hawaiian/Pacific Islander, other specified. c Other includes residential treatment, day treatment, dual diagnosis/SUD detox and residential, inpatient psychiatric consults, jail, pediatric practice, college/university counseling center, school, state institution, telepsychiatry. d The number of respondents that reported ordering a genetic test related to ASD by % of self-reported ASD patients in practice. The percentages in parentheses indicates the percentage of respondents in each decile that reported ordering a genetic test for ASD.
| Gender | ||||||||||
| Female | Male | Other a | Prefer not to say | |||||||
| 469 | 455 | 6 | 30 | |||||||
| Race | ||||||||||
| White | Asian | Black | Other b | Multiracial | Prefer not to say | |||||
| 696 | 109 | 39 | 35 | 21 | 53 | |||||
| Ethnicity | ||||||||||
| Latinx | ||||||||||
| 47 | ||||||||||
| Years of Child and Adolescent Psychiatry Practice Post Fellowship | ||||||||||
| Fellow | 1–5 | 6–10 | 11–15 | 16 or more | Retired | Unspecified | ||||
| 19 | 61 | 179 | 167 | 529 | 2 | 3 | ||||
| Practice Setting | ||||||||||
| University Medical Center | Hospital | Clinic | Psychiatric Hospital | Government | Private Practice | Community Agency | Military Setting | Emergency Room | Other c | |
| Total | 220 | 128 | 267 | 82 | 31 | 378 | 112 | 10 | 19 | 17 |
| Only in setting | 120 | 50 | 113 | 26 | 15 | 265 | 44 | 3 | 0 | 4 |
| Respondents that ordered test related to ASD by percentage of patients with ASD in practice d | ||||||||||
| % of Patients with ASD in practice | 0–10% | 10–20% | 20–30% | 30–40% | 40–50% | 50–60% | 60–70% | 70–80% | 80–90% | 90–100% |
| Respondents that ordered test related to ASD (%) | 177(42.4) | 107(62.6) | 91(71.4) | 41(73.2) | 13(92.3) | 16(81.3) | 0(0) | 8(88.5) | 9(100) | 12(100) |
Over half (54.9%: n=526) of respondents had requested a genetic test in the prior 12 months. Among these 526 CAPS that had requested any genetic testing, 59.9% (n=315) did so in relation to a diagnosis of ASD. Those who requested genetic testing related to ASD reported a significantly higher percentage of ASD cases in their practice (25.9%) compared to CAP who did not order a test related to ASD (12.8%; F(1,480)=46.76, p<.001). CAP who requested genetic testing related to ASD reported significantly greater self-rated knowledge about: genetic testing (F(1,950)=7.79, p<0.0001), genetic testing practice guidelines in psychiatry (F(1,935)=30.19, p=0.0001), and how to integrate genetic testing into practice (F(1,951)=65.93, p<0.0001) compared to CAP who did not. CAP who ordered tests related to ASD indicated higher perceived utility of genetic testing related to ASD testing than those that had not (F(1,945)=38.77, p<0.0001). Being at a University medical center was associated with an increased likelihood of ordering a genetic test related to ASD (OR = 2.33, 95% CI = 1.71–3.17, p<.001). Finally, there was a trend for more years of clinical practice being associated with reduced likelihood of ordering a genetic test related to ASD (OR=.94; 95%CI=.87–1.00). Results are summarized in Figure 1 and detailed in Supplement 3, available online.
Figure 1:
The Distribution of Responses of CAP Who Did or Did Not Request a Genetic Test Related to ASD.
Knowledge and ability questions (Figure 2A-C) scaled from 1 - Very poor, 2 - poor, 3 - good, 4 - very good, and question about utility (Figure 2D) scaled from 1 - Not at all useful, 2 - Slightly useful, 3 - moderately useful, 4 - 4 Very useful.
Discussion:
The results demonstrate a direct correlation between the degree of perceived knowledge about genetic testing and the likelihood of ordering a standard of care genetic test for autism. These findings support the idea that more education may increase the frequency of genetic testing by CAP for ASD patients in need. In particular there is a need for education to inform CAP with current standard of care and to assist CAP how to align their practice to meet these standards. Recent recommendations have highlighted this need and how to address this by improving the education of those in training 11: our data may suggest some progress in this respect, given the trend toward more years post training having an inverse relationship with likelihood of ordering a test. This result also suggests the need for provider education post-training. Recent studies have also begun to identify factors such as lack of awareness12 and lower perceived utility13 as barriers to genetic testing on the patient and caregiver end, also indicating a role for education. The association between perceived utility and ordering genetic tests related to ASD demonstrates a need to inform physicians as well as patients and caregivers of the potential impact of genetic testing on clinical management and the potential emotional benefits of genetic testing to the patient and their family14.
Our findings also indicate a possible role for subspecialization within CAP given increased genetic testing occurring in practices characterized by higher percentage of ASD patients as well as in university medical centers. The low level of self-rated knowledge indicated about integrating genetic testing into practice by those who did not order tests related to ASD may speak to opportunities for integration of other professionals, such as genetic counselors, into the clinical practice network of CAP, similar to how non-MD psychotherapists have been integrated successfully into many CAP practice networks. Psychiatrists, like other physicians, are already trained to have discussions about the risks and benefits of a clinical test and there is likely a role for training to specifically target deficits regarding genetic testing.
Several limitations should be acknowledged, including the self-report nature of responses and an overall response rate of 16.9% and completion rate of ~11.6% of active CAP in the USA. The nature of our recruitment and sample did not permit comparisons between respondents and non-respondents. We were able to account for some possible biases by asking about them in the survey, including several participant characteristics, such as years post training and practice setting. Despite these limitations, this survey is the largest survey on psychiatric genetic testing perceptions and knowledge of psychiatrists (not just CAP) to date and highlights the need for systematic educational efforts and multidisciplinary collaboration to maximize assessment and outcomes for youth with ASD.
Supplementary Material
Supplement 1: Items from child and adolescent psychiatry genomics survey used for this letter.
Supplement 2: Flowchart of survey distribution, response, assessment of eligibility, and allocation into groups analyzed.
Supplement 3: Values utilized to calculate the distribution of responses of CAP who did or did not request a genetic test related to ASD.
Acknowledgments:
The authors thank Clarissa Sanchez, MPH, of the Baylor College of Medicine for helpful assistance in manuscript preparation. Research for this article was funded by the National Institutes of Health (NIH)-National Human Genome Research Institute, parent grant R00HG008689 (Lázaro-Munoz) and supplemental grant R00HG008689-05S1 (Lazaro-Munoz, Storch). The views expressed are those of the authors and do not necessarily reflect views of the NIH, Baylor College of Medicine, Duke University, University of British Columbia, nor the University of South Florida.
Disclosures:
Dr. Soda reports research grants from the NIH and the Foundation of Hope for Research and Treatment of Mental Illness. Dr. Pereira reports research grants from the NIH, NHGRI, and NICHD. Dr. Small reports no biomedical financial interests or potential conflicts of interest. Ms. Torgerson reports no biomedical financial interests or potential conflicts of interest. Ms. Muñoz reports no biomedical financial interests or potential conflicts of interest. Dr. Austin reports research grants (unrelated to this work) from the Canadian Institutes of Health Research, NIH, Pfizer, and Genome BC, and is supported by the Canada Research Chairs Program and BC mental health and substance use services. Dr. Storch receives research support from NIH, Texas Higher Education Coordinating Board, Houston Community Foundation and Ream Foundation. He receives book royalties from Elsevier, Wiley, Oxford, Springer, Jessica Kingsley, and American Psychological Association. He is a consultant for Levo Therapeutics. Dr. Lázaro-Muñoz reports research grants from the NIH.
Contributor Information
Takahiro Soda, Duke University School of Medicine.
Stacey Pereira, Baylor College of Medicine.
Brent J. Small, University of South Florida.
Laura N. Torgerson, Baylor College of Medicine.
Katrina A. Muñoz, Baylor College of Medicine.
Jehannine Austin, University of British Columbia.
Eric A. Storch, Baylor College of Medicine.
Gabriel Lázaro-Muñoz, Baylor College of Medicine.
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
Supplement 1: Items from child and adolescent psychiatry genomics survey used for this letter.
Supplement 2: Flowchart of survey distribution, response, assessment of eligibility, and allocation into groups analyzed.
Supplement 3: Values utilized to calculate the distribution of responses of CAP who did or did not request a genetic test related to ASD.