Prenatal genetic counseling challenges with indeterminate <scp>SMA</scp> results
Bibliographic record
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with complex genetic etiology. About 95% of individuals affected with this condition have a homozygous deletion of the SMN1 gene. One scenario that complicates risk is when a parent is identified as a possible silent carrier, meaning they have a [2 + 0] chromosome configuration. This configuration occurs when an individual has two copies of the SMN1 gene on one chromosome and no copies on the other chromosome. It is thought that 3.8-4.0% of the general population is a [2 + 0] carrier with a higher prevalence in African American and Hispanic populations. The [2 + 0] configuration makes it more difficult to calculate residual risk because testing cannot determine the difference between [2 + 0] carriers and [1 + 1] non-carriers, leading to indeterminate SMA carrier screening results. SMA was added to general population carrier screening in 2017, leading to an increase in the number of patients identified to have indeterminate results. Previous research has not examined how this addition has affected counseling practices involving indeterminate results. The purpose of this research was to gain a better understanding of the practices and challenges in this area, specifically within non-Ashkenazi Jewish (AJ) populations. This study utilized a quantitative survey with open-response questions. Responses from 49 prenatal genetic counselors from the United States and Canada were analyzed and it was found that genetic counselors face similar challenges when counseling indeterminate SMA results across all regions. These include negative patient emotions and both patient and referring provider misunderstanding, as highlighted in the qualitative data. Three major categories emerged including (1) challenges with patients, (2) challenges with referring providers, and (3) the effects of the 2017 addition to general population carrier screening. This study highlights the need for provider education surrounding indeterminate SMA results, the development of a visual aid, and future research from the patient and referring provider perspective.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".