P609: Mainstreaming genetics: Evaluation of a digital application to scale and spread oncologist-initiated genetic testing
Bibliographic record
Abstract
Introduction: Reproductive carrier screening, which initially targeted ethic-specific genetic conditions, is now recommended for all populations.Despite technological capacity for expansive screening, in Singapore only thalassemia is routinely offered.Genetic condition severity and prevalence are main considerations in gene panel development, yet carrier screening uptake can be influenced by other factors such as lived experience and available support services.As most exploratory studies have been conducted in healthcare settings with European-derived populations, further research is required regarding participation and barriers amongst diverse populations to understand acceptability and impact.We explored the attitudes and preferences towards the implementation of carrier screening in Singapore, a population comprising of Chinese, Indian and Malay, by engaging with community members, healthcare professionals and religious leaders.Methods: As an initial scoping exercise, individuals of reproductive age attending outpatient appointments at a tertiary hospital in Singapore were invited to complete a questionnaire regarding their preferences towards carrier screening participation and genetic conditions to be screened.In parallel, the views and attitudes from healthcare professionals working in genetics or obstetric departments regarding carrier screening implementation were also collated by questionnaire.To increase awareness, religious leaders representing Islam, Buddhism, Christianity, Hinduism, and Judaism were also engaged.Results: To date, 296 community members have responded, with the majority of participants aged 25 to 44 years (range 18-54 years) and 57% identifying as female.Although most had not previously undergone reproductive carrier screening, 94% expressed interest in learning their carrier status.Concerns over potential insurance implications and increased medical appointments were the most common reasons for declining carrier testing.A large proportion of respondents (85%) indicated they would consider further testing if found to be at increased risk of having a child with a genetic condition, while 48% reported they may consider not having children.In addition to severe conditions, most respondents supported testing for late onset or mild genetic conditions.Among the 94 healthcare professional respondents, most acknowledged carrier screening will be routinely incorporated into clinical practice yet only half felt comfortable offering testing to patients.All religious leaders were supportive of carrier screening being offered to prospective parents.Conclusion: Overall, this preliminary data suggests that there is support for the expansion of carrier screening in Singapore from the perspectives of the community, healthcare providers and religious leaders.The responses also highlight key areas for educational initiatives and as well as insights into which genetic conditions to be considered for screening.These findings will help inform the design and implementation of a carrier screening program which is tailored, accessible and equitable for the Singaporean population.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".