What are the Informational Preferences about Genetic Testing of Parents with Children with Autism Spectrum Disorder?
Bibliographic record
Abstract
Abstract BACKGROUND Autism Spectrum Disorder (ASD) affects more than 1% of the population. In 2009, the Canadian College of Medical geneticists recommended genome-wide microarray analysis as a first-line investigation for children with a diagnosis of ASD. OBJECTIVES The purpose of this study is to explore experiences and preferences of parents with children with ASD regarding information about genetic testing. DESIGN/METHODS In this mixed method study, parents of children with a diagnosis of ASD (age 2 to 17 years) were recruited through advertisements on websites and Facebook pages of community partners. The first step was an on-line survey housed on a secure web-based platform. In addition to demographic data, the survey collected information about the experiences and informational preferences of the parents about genetic testing. A subset of participants, based on expressed interest, participated in an in-person semi-structured interview. All interviews were recorded, transcribed and coded for major themes and sub-themes. RESULTS A total of 31 participants responded to the survey and 5 interviews were completed. Their children had received their diagnosis between 2004 and 2017. The online survey revealed that 69% of participants were aware of genetic testing and 38% had genetic testing completed. Overall, 94% wanted to have more information about genetic testing; notably, only 25% had heard about microarray. Receiving information about genetic testing was preferred in a follow up appointment by 56% of participants, but 28% preferred to receive information on the date of ASD diagnosis. Most participants (81%) identified their community paediatrician as the preferred physician to discuss genetic testing with them. Almost all interview participants were concerned that the information from genetic testing could be detrimental to their child, noting, for example, potential difficulties obtaining insurance coverage. Some shared their concerns regarding their paediatrician’s knowledge about genetic testing and ASD; in fact, two families decided to change to a new paediatrician to fulfill their needs of information about ASD and genetic testing. CONCLUSION This study showed that parents of children with ASD are globally interested to learn more about genetic testing, with their paediatrician being their preferred resource. For that reason, it appears important that paediatricians be aware of the recommended investigations for children with ASD and have a good understanding of the implications of genetic testing.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.021 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".