This page provides an independent statistical analysis and educational interpretation of publicly reported results. ClinicalTrials.gov provides the official trial registry record. Numerical trial results on this page are restricted to the results posted in the ClinicalTrials.gov record; calculations added by Clinical Biostats are labelled as such.
1. Trial at a Glance
This page covers the registry results for North Carolina Newborn Exome Sequencing for Universal Screening (NCT02826694), a randomized na study. The primary outcome is Parental Choices Following Decision Aid.
| Feature | Registry value |
|---|---|
| ClinicalTrials.gov identifier | NCT02826694 |
| Phase | NA |
| Condition | Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease |
| Allocation | Randomized |
| Design model | Parallel |
| Masking | None (open label) |
| Enrollment | 106 |
| Arms in the primary outcome | n/a |
| Lead sponsor | University of North Carolina, Chapel Hill |
| Results posted | Yes |
2. Clinical Question
Population
The study record describes healthy infants and their parents, as well as infants and children with diagnosed conditions whose parents consented to sequencing. For the primary outcome, the population is parents initially approached by email with a link to the first online decision aid. The record distinguishes those initially approached from families considered enrolled: enrollment required an in-person consent visit and a decision to have the child’s genome sequenced.
Intervention
The listed interventions are whole exome sequencing for well infants and whole exome sequencing for infants or children with diagnosed conditions. In both descriptions, saliva is used to obtain DNA for sequencing. The study’s brief summary says it explores the utility of next generation sequencing in newborn screening and parental decision making.
Comparator
The record lists a randomized, parallel design and no masking, but it does not report enough detail to identify the intended comparison for the primary outcome or how assignment relates to the two intervention groups. The diagnosed and well-infant groups describe different participant circumstances; the record does not establish that one is a control condition for the other.
Primary question
After completing an online decision aid, do parents choose yes, no, or undecided about participating? The primary outcome records participant counts for those choices. The record describes the outcome timeframe as an average of 3-6 months and notes that a family was not considered enrolled unless the parents attended an in-person consent visit and elected sequencing. Category-specific outcome results are not reported in the registry record.
3. Trial Design
NCT02826694 is listed as a randomized, parallel study with no masking and phase recorded as not applicable. Its status is completed. The registry lists enrollment of 106. The study is titled North Carolina Newborn Exome Sequencing for Universal Screening and is sponsored by the University of North Carolina, Chapel Hill. Its brief summary describes an investigation of next generation sequencing in newborn screening and parental decision making, co-funded by NICHD and NHGRI under a single U-19.
The record describes two genetic interventions: whole exome sequencing for well infants, and whole exome sequencing for infants or children with diagnosed conditions. In the well-infant description, healthy infants and their parents enroll prenatally; after birth, the infant provides a saliva sample for DNA extraction and sequencing. In the diagnosed-condition description, parents enroll and consent to sequencing, and saliva samples are obtained from the child for DNA extraction and sequencing.
The registry lists a study start of 2016-06 and primary completion on 2019-06-30. These dates and the completed status describe the study record, not the timing or completeness of any particular outcome analysis. Although randomization is recorded, the assignment process and its relationship to the intervention groups are not reported in the registry record. The record also does not report a control intervention or explain how the parallel design was used to address the primary question about parental choices.
Parental Reaction Scores are listed as a secondary outcome. The registry lists 3 outcome measures and 2 analyses, but does not provide further details about the analyses in the registry record used for this interpretation. The primary outcome is a count of participants choosing among yes, no, and undecided after an online decision aid. Its population definition makes clear that receiving the decision aid did not, on its own, make a family enrolled in the sequencing study.
4. Participant Flow and Accounting
The registry reports how participants moved through each stage of the study. All counts below are exactly as posted; missing counts are not inferred from other stages.
Overall Study
| Stage | Well Infant, Whole Exome Sequencing | Diagnosed, Whole Exome Sequencing |
|---|---|---|
| STARTED | 61 | 45 |
| Decision Group | 41 | 30 |
| Control Group | 20 | 15 |
| COMPLETED | 61 | 45 |
| NOT COMPLETED | 0 | 0 |
Analysis population for the primary outcome, as defined in the registry: Those parents initially approached received an email link to the 1st Decision Aid. However, they were not considered enrolled unless they came for an in-person consent visit and elected to have their child's genome sequenced.
5. Baseline Characteristics
The table reproduces the baseline characteristics posted in the registry, which describe the participants analysed at baseline and help show whether the randomized groups were comparable.
Population: Healthy newborns and children up to age 5 with a diagnosed condition
| Characteristic | Unit | Well Infant, Whole Exome Sequencing | Diagnosed, Whole Exome Sequencing | Total |
|---|---|---|---|---|
| Participants analysed | 61 | 45 | 106 | |
| Age, Categorical: <=18 years | Participants | 61 | 45 | 106 |
| Age, Categorical: Between 18 and 65 years | Participants | 0 | 0 | 0 |
| Age, Categorical: >=65 years | Participants | 0 | 0 | 0 |
| Sex: Female, Male: Female | Participants | 29 | 28 | 57 |
| Sex: Female, Male: Male | Participants | 32 | 17 | 49 |
| Ethnicity (NIH/OMB): Hispanic or Latino | Participants | 8 | 2 | 10 |
| Ethnicity (NIH/OMB): Not Hispanic or Latino | Participants | 51 | 42 | 93 |
| Ethnicity (NIH/OMB): Unknown or Not Reported | Participants | 2 | 1 | 3 |
| Race (NIH/OMB): American Indian or Alaska Native | Participants | 0 | 0 | 0 |
| Race (NIH/OMB): Asian | Participants | 5 | 4 | 9 |
| Race (NIH/OMB): Native Hawaiian or Other Pacific Islander | Participants | 0 | 0 | 0 |
| Race (NIH/OMB): Black or African American | Participants | 9 | 3 | 12 |
| Race (NIH/OMB): White | Participants | 44 | 37 | 81 |
| Race (NIH/OMB): More than one race | Participants | 0 | 0 | 0 |
| Race (NIH/OMB): Unknown or Not Reported | Participants | 3 | 1 | 4 |
| Region of Enrollment: United States | Participants | 61 | 45 | 106 |
6. Primary Endpoint
The registry lists the primary outcome as Parental Choices Following Decision Aid, measured over average of 3-6 months.
| Element | Registry entry |
|---|---|
| Result type | Count Of Participants |
| Measure of spread | not applicable |
| Unit | Participants |
| Endpoint classification | Binary Endpoint |
The primary endpoint, titled “Parental Choices Following Decision Aid,” is a count of participants. It concerns parents’ decisions after completing an online decision aid about whether they wish to participate. The listed response options are yes, no, and undecided. The outcome timeframe is described as an average of 3-6 months.
This endpoint addresses a decision-making question rather than a clinical outcome in the child. Counting responses can describe how parents respond to the decision aid and how many select each available choice, when those results are reported. Keeping undecided as a response category matters: it distinguishes uncertainty from a clear choice to participate or not participate. A count also makes the unit of reporting explicit as participants, rather than a score or a measured change in health.
The population definition includes parents who were initially approached by email with a link to the first decision aid. It also clarifies that those parents were not considered enrolled unless they came to an in-person consent visit and elected sequencing for their child. Thus, a response after the decision aid and enrollment in the study are not interchangeable endpoints. The registry record does not report the numbers choosing each option, the analysis population used for the outcome, or an estimate comparing groups. As a result, the endpoint’s definition is available, but its observed distribution cannot be interpreted from the registry record.
7. Why No Re-analysis Is Shown
8. Statistical Interpretation
The registry record establishes that the study was completed and lists the primary outcome, but it does not report the category-specific results for parental choices. In particular, the counts choosing yes, no, or undecided are not reported in the registry record. Without those counts or an analysis comparing groups, the record does not establish how parents responded to the decision aid or whether choices differed across study groups. The endpoint description alone is not evidence of the direction or size of any response pattern.
The outcome’s participant-count format calls for care in interpreting the population. The primary outcome population includes parents initially approached by email, while the registry separately defines enrollment through an in-person consent visit and a decision to have the child’s genome sequenced. A parent’s decision following the decision aid should therefore not be treated as equivalent to completing enrollment. The record does not report the number of parents approached, the number completing the decision aid, or how many reached the consent visit.
The study is recorded as randomized and parallel, but the assignment method and the way assignment relates to the well-infant and diagnosed-condition groups are not reported in the registry record. Those omissions prevent a clear account of what comparison the primary analysis was intended to make. The groups also represent different participant circumstances, so the available description does not justify treating one as the other’s control group.
The record lists Parental Reaction Scores as a secondary outcome but does not report their results in the registry record for this interpretation. It also does not provide a primary-outcome estimate, confidence interval, or hypothesis-test result. A confidence interval, in general, describes the precision of an estimated quantity; without an estimate and interval, the precision of a group difference cannot be assessed. No direction, magnitude, or statistical significance for the primary outcome can be inferred from the study status or endpoint definition.
The safety record lists zero serious events in each of the two groups and records other events for the diagnosed-condition group. Those counts are descriptive safety entries, not results for parental decision-making. They do not resolve the unanswered primary-outcome question. Overall, the registry record gives meaningful information about the question, the intervention descriptions, and the endpoint definition, while leaving the primary outcome results and key analysis details unreported.
9. Statistical Methods Explained
The registry describes a participant-count outcome with three possible choices: yes, no, and undecided. Counts are a natural way to report how many participants fall into each response category. They are not continuous measurements such as a score, and the three choices should not be collapsed into a single yes-or-no result unless the analysis plan specifies that grouping. The registry record does not report such a grouping or a category-specific analysis.
What does the endpoint count?
The outcome counts participants’ decisions after the online decision aid. The stated population begins with parents initially approached by email, while enrollment requires an in-person consent visit and a choice to have the child’s genome sequenced. These are different stages in the study process. For a count to be interpreted, it is important to know which participants were included in each reported response category and how missing or incomplete responses were handled. Those details are not reported in the registry record.
Counts can be presented without making a model-based comparison. If a study seeks to compare response patterns between groups, the analysis must also define the groups and the statistical question. For a multi-category outcome, possible questions include whether the overall distribution differs or whether a particular category differs. These questions are not interchangeable, and the choice affects what an estimate means. The registry record does not specify which question or method was used for the primary outcome.
What does randomization tell the reader?
The study is recorded as randomized, parallel, and unmasked. Randomization generally uses an assignment process intended to make comparison groups comparable with respect to factors that may affect outcomes. That general purpose does not establish how this study implemented randomization, what units were assigned, or which groups were compared. The registry record does not report those details. Its intervention descriptions distinguish well infants from children with diagnosed conditions, but they do not explain whether or how these groups correspond to randomized assignments. Therefore, the design label alone is not enough to identify the primary treatment contrast or support a causal interpretation of parental choices.
Unmasked means the registry records no masking. In general, masking is intended to limit the influence of knowledge about assignment on some aspects of study conduct or outcome assessment. The relevance depends on what is being assessed and how. For a reported parental choice, awareness of the study context could matter to the interpretation, but the registry record does not describe procedures or assess any such influence. No claim about bias can be established from the masking label alone.
How should a confidence interval be read?
In general, a confidence interval expresses uncertainty around an estimated quantity. A narrow interval indicates greater statistical precision than a wide interval, given the same method and target quantity. It does not by itself establish that an effect is important or that the analysis is free of bias. The registry record does not report a primary-outcome estimate or confidence interval, so the precision of any difference in parental choices cannot be evaluated.
Similarly, a hypothesis test can assess compatibility between observed data and a specified null hypothesis under the test’s assumptions. A p-value does not measure the size or practical importance of an effect. The registry record does not report a test or p-value for the primary outcome. Neither statistical significance nor a lack of statistical significance can be inferred from the information recorded about the endpoint.
What does the planning illustration represent?
The record describes a sample-size planning illustration based on an observed effect, with a two-sided significance level of 0.05, equal allocation between arms, and a normal approximation. It describes the effect to detect as a stated fraction of the observed effect. The record explicitly characterizes this as a planning illustration, not the trial’s own design. Specific planning estimates are not reported in the registry record. Such planning values, when available, describe assumptions for a hypothetical design; they are not observed outcomes and are not observed power.
The record’s planning description does not supply a resolved primary comparison. The primary outcome has several categories and is not reduced to one comparison in the registry information. A planning calculation based on an observed effect would require a defined effect and analysis target; neither a primary result nor a category-specific estimate is reported. The planning assumptions therefore cannot fill the gap in the primary-outcome results.
Why can over-dispersion matter?
In general, over-dispersion occurs when observed variability exceeds what a statistical model assumes. If present, it can make standard errors too small and confidence intervals too narrow unless the model allows for the extra variability. The primary outcome is described as participant counts across choices, but the registry does not report a model, dispersion assessment, or an analysis that would permit judging whether over-dispersion was relevant. This general issue should not be mistaken for evidence that over-dispersion occurred in this study.
Finally, the record lists 3 outcome measures and 2 analyses but does not describe the statistical methods used for the primary outcome. The methods, adjustment choices, and analysis populations are not reported in the registry record. Accordingly, the endpoint can be described, and general statistical principles can clarify what would be needed for interpretation, but no unreported analysis should be inferred.
10. Multiplicity, Missing Data and Analysis Populations
The registry lists 3 outcome measures, including Parental Reaction Scores as a secondary outcome, and lists 2 analyses. It does not report the analysis plan, the relationship between analyses and outcomes, or whether any adjustment for multiple comparisons was used. When a study evaluates several outcomes or contrasts, testing each can increase the chance of finding an apparently notable result by chance. In general, multiplicity methods address that issue, but the appropriate approach depends on the questions and analysis plan. No adjustment method is reported in the registry record, so the handling of multiplicity cannot be assessed.
The primary endpoint has three response categories, but category-specific results and the analysis population are not reported. The record identifies parents initially approached by email as the population of interest and states that enrollment required an in-person consent visit and choosing sequencing. It does not report how many parents completed the decision aid, how missing responses were handled, or whether the analysis included everyone approached or a narrower group. These omissions matter because the interpretation of response counts depends on who was included and what happened to incomplete observations.
The registry record also does not report a protocol-level statistical analysis plan, interim analyses, or a sample-size justification for the trial. Their absence from the record does not establish that such plans or procedures did not exist; it means they are not reported in the registry record. The planning illustration described in the record is explicitly not the trial’s own design and cannot substitute for those details.
11. Safety Results
The registry reports serious adverse events as affected participants divided by participants at risk.
| Arm | Participants with serious adverse events | Participants at risk | Percentage |
|---|---|---|---|
| Well Infant, Whole Exome Sequencing | 0 | 61 | 0.0% |
| Diagnosed, Whole Exome Sequencing | 0 | 45 | 0.0% |
Deaths
| Arm | Deaths (participants affected of at risk) |
|---|---|
| Well Infant, Whole Exome Sequencing | 0 of 61 |
| Diagnosed, Whole Exome Sequencing | 0 of 45 |
Other (non-serious) adverse events
Participants with at least one non-serious event at or above the registry's 0% reporting threshold.
| Arm | Participants affected of at risk |
|---|---|
| Well Infant, Whole Exome Sequencing | 0 of 61 |
| Diagnosed, Whole Exome Sequencing | 2 of 45 |
Most frequent non-serious adverse event terms
| Event term | Organ system | Well Infant, Whole Exome Sequencing | Diagnosed, Whole Exome Sequencing |
|---|---|---|---|
| Sample mixup | Congenital, familial and genetic disorders | 0 of 61 | 2 of 45 |
The registry lists serious adverse event counts of 0 among 61 at risk in the well-infant whole exome sequencing group and 0 among 45 at risk in the diagnosed whole exome sequencing group. It lists other adverse event counts of 0 among 61 at risk in the well-infant group and 2 among 45 at risk in the diagnosed group. Death counts are 0 in both groups. The registry lists no top serious-event terms.
These are recorded counts and denominators, not a comparison adjusted for differences between groups. The two group descriptions refer to well infants and participants with diagnosed conditions; the record does not explain how assignment to those groups was carried out. The counts therefore should not be read as evidence that the groups were otherwise comparable or that any observed difference is attributable to sequencing.
A zero count means no event was recorded for that entry in the registry. It does not prove that an event could not occur, establish that all events were captured, or describe the precision of an estimated risk. The registry record does not provide further details about event definitions, observation periods, or the handling of missing safety information. These safety figures are separate from the primary endpoint, which concerns parents’ choices after the decision aid.
12. What the Result Does, and Does Not, Mean
The registry record is useful for identifying the study’s stated purpose, intervention descriptions, and primary decision-making outcome. It describes whole exome sequencing in well infants and in infants or children with diagnosed conditions, and it frames the primary question around parents’ choices after an online decision aid. It also makes an important distinction between being approached and being considered enrolled: enrollment required an in-person consent visit and a decision to sequence the child’s genome.
That information does not answer how parents actually responded. The registry record does not report how many selected yes, no, or undecided, nor does it give an estimated comparison, confidence interval, or test result for the primary endpoint. The study’s completed status is not itself evidence that the decision aid changed choices or that a particular response was common. The secondary outcome is listed, but its results are not reported in the registry record for this interpretation.
The recorded randomized, parallel design could be relevant to comparisons, but the assignment process and intended comparison are not described. The two intervention descriptions correspond to different participant circumstances, and the registry does not establish that one group served as a control for the other. Consequently, no causal effect of an intervention on parental choices can be inferred from the design label alone.
The safety counts are also limited descriptive information. They report recorded event counts for the listed groups, but do not answer the primary decision-making question or establish a complete safety profile. Overall, the registry supports a clear account of what the study set out to examine, but not a conclusion about the observed distribution, size, or precision of parental-choice results.
13. Why This Trial Matters Statistically
This study is statistically interesting because it treats a decision process as an outcome rather than focusing only on a clinical measure in the child. Parents’ choices after a decision aid can be described as counts across yes, no, and undecided. Preserving all three categories can matter: undecided is a meaningful response state, not automatically equivalent to either acceptance or refusal. The registry’s endpoint definition therefore raises a substantive analysis question about how the response distribution should be represented.
The distinction between being approached and being enrolled also matters for statistical interpretation. A count among parents who received an email link would answer a different question from a count among families who completed an in-person consent visit and elected sequencing. Without reported numbers for each stage or an explicit analysis population, readers cannot determine which group the primary outcome represents in practice.
The record also illustrates why a design label is not a complete statistical analysis. Randomized and parallel describe aspects of the study design, but interpretation requires knowing what was assigned, which groups were compared, and how the primary outcome was analyzed. Those details are not reported in the registry record. This is especially relevant because the intervention descriptions distinguish well infants from children with diagnosed conditions.
Finally, a completed study record can still leave the central statistical question unresolved when endpoint results and uncertainty estimates are absent. The listed safety counts do not substitute for parental-choice results, and a planning illustration does not supply observed evidence. The record’s value lies in clarifying the intended question and the information needed for a meaningful comparison, while its omissions limit conclusions about the result.
14. Limitations
- The posted summary statistics are the only data these results rest on; patient-level data, full protocols and statistical analysis plans are not available.
- Recalculated results are simple, unadjusted calculations from posted summaries. They do not replace the sponsor's prespecified analysis.
The main limitation for interpreting this trial is that category-specific primary-outcome results are not reported in the registry record. Without the counts for yes, no, and undecided, readers cannot describe the observed response distribution or assess a group contrast. No primary-outcome estimate, confidence interval, or hypothesis-test result is reported either, so precision and statistical compatibility with a null hypothesis cannot be evaluated.
The primary outcome population is defined as parents initially approached with an online decision-aid link, while enrollment requires an in-person consent visit and a decision to sequence the child. The registry does not report how many people progressed through these stages, how incomplete responses were handled, or the analysis population used. This limits assessment of whether the outcome counts represent all parents approached or a selected subset.
Although randomization and a parallel design are recorded, the assignment process and intended comparison are not reported. The two intervention descriptions concern different participant circumstances, and the record does not explain how those groups relate to randomization or the primary analysis. The registry also does not report the statistical methods, multiplicity handling, interim analyses, or a trial-specific sample-size justification. These details cannot be reconstructed from the endpoint definition.
The safety entries are limited to the reported group counts and at-risk counts. Event definitions, follow-up periods, and completeness of adverse-event ascertainment are not reported in the registry record. The study’s status as completed and the listed enrollment do not resolve these outcome and methods gaps. These limitations are specific to the information available for this trial record and constrain interpretation without establishing that unreported procedures were absent.
15. Related Tutorials
16. Related Statistical Calculators
17. Sources
- ClinicalTrials.gov: North Carolina Newborn Exome Sequencing for Universal Screening — NCT02826694.
- Registry record last updated 2020-07-08; status last verified 2019-03.
- Results first posted 2020-07-08.
- Data retrieved from ClinicalTrials.gov on 2026-11-09.
- Group sizes, means, event counts and sponsor-reported p-values are reproduced as posted. Effect estimates, confidence intervals and p-values not attributed to the sponsor are independently calculated from the posted summary statistics.
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18. Record Summary
NCT02826694, North Carolina Newborn Exome Sequencing for Universal Screening, is listed as a completed, randomized, parallel study with no masking. The registry lists enrollment of 106, a start date of 2016-06, and primary completion on 2019-06-30. The sponsor is the University of North Carolina, Chapel Hill.
The study describes whole exome sequencing for well infants and for infants or children with diagnosed conditions. The primary outcome concerns parents’ choices after an online decision aid, with responses of yes, no, or undecided and a timeframe described as an average of 3-6 months. Parental Reaction Scores are listed as a secondary outcome.
Category-specific primary results, the intended comparison, and the statistical analysis details are not reported in the registry record. Safety entries list zero serious events in both groups and other events in the diagnosed-condition group.