Scientific materials
Understanding Your DNA Test Results
The science behind T1D genetic risk — what your results mean, how our test was developed, and what we can predict.
T1D scout
October 16, 2023
What You Need to Know
Our DNA test analyzes your child's genetic information to determine their inherited risk for Type 1 Diabetes. By identifying those at higher genetic risk, we can provide targeted monitoring and early detection — while offering reassurance to families whose children have lower genetic risk.
Your child's DNA test result tells us how likely they are to have autoantibodies — the earliest biological marker that the autoimmune process leading to Type 1 Diabetes has started. This isn't a diagnosis, and it doesn't predict exactly when or if T1D will develop. But it helps us know who needs closer monitoring and who can be reassured.
How the DNA Test Works
We Analyze 50 Genetic Variants
Your child's saliva sample is tested for 50 specific genetic markers associated with T1D risk.
Calculate Your Risk Score
Our validated model combines all 50 variants to calculate an overall genetic risk score.
Receive Your Risk Category
You receive either Higher Risk or Lower Risk based on your score.
What Your Results Mean
Your child receives one of two results: Higher Genetic Risk or Lower Genetic Risk. Here's what each means, based on our clinical study of 433 children with family history of Type 1 Diabetes.
Higher Genetic Risk (Top 20%)
If your child is in the higher genetic risk group, their DNA test shows they have inherited genetic variants that make them more susceptible to developing Type 1 Diabetes. This doesn't mean they have T1D or will definitely develop it — but it does mean we should watch them more closely.
What the data shows: In our clinical study, 10 out of every 100 children in the higher genetic risk group tested positive for multiple autoantibodies — the earliest sign that the autoimmune process has begun. These children are at Stage 1 T1D, meaning they're in the presymptomatic phase of the disease.
- Top 20% of genetic risk scores
- 10% had multiple autoantibodies in our study
- 11.85 times higher odds than lower-risk group
- These children benefit from monitoring every 6–12 months
- Early detection prevents serious complications (DKA) in 95% of cases
What This Means for Your Family
- Autoantibody Testing Recommended: We recommend proceeding with our at-home autoantibody test to check current status.
- Regular Monitoring: If autoantibodies are positive, monitoring every 6–12 months helps catch progression early.
- Stay Informed: New treatments like teplizumab can delay T1D onset in Stage 2 patients.
- Family Planning: Knowledge helps your family prepare and avoid emergency situations.
Lower Genetic Risk (Bottom 80%)
If your child is in the lower genetic risk group, their DNA test shows they have a genetic profile similar to the general population. While they still have a family history of T1D (which does carry some increased risk), their genetic risk is significantly lower than those in the higher-risk group.
What the data shows: In our clinical study, fewer than 1 out of every 100 children in the lower genetic risk group (0.93%, to be exact) tested positive for multiple autoantibodies. This is similar to the background rate in the general population without family history.
- Bottom 80% of genetic risk scores
- 0.93% had multiple autoantibodies in our study
- Similar to general population (without family history)
- These children may not need intensive monitoring
- Provides meaningful reassurance while staying informed
What This Means for Your Family
- Baseline Testing Available: You may choose to do a baseline autoantibody test for peace of mind.
- Less Intensive Monitoring: Annual or less frequent checking may be sufficient.
- Stay Aware: Lower risk doesn't mean zero risk — watch for symptoms and stay informed.
- Focus Your Energy: You can feel reassured while focusing on other aspects of your child's health.
A lower genetic risk result doesn't completely rule out Type 1 Diabetes. Your child still has a family history, which carries some elevated risk compared to the general population. However, their genetic profile suggests that risk is much lower than children in the higher-risk category. Think of it as: they're at lower risk, not no risk.
Understanding the Numbers: Higher vs. Lower Risk
The difference between higher and lower genetic risk is substantial. Here's what the data from our clinical study shows.
We studied 433 children with family history of Type 1 Diabetes and tested both their DNA and their autoantibody status. The results were clear: children with higher genetic risk were 11.85 times more likely to have multiple autoantibodies compared to children with lower genetic risk.
What Does "11.85 Times More Likely" Mean?
Let's put this in perspective. An odds ratio of 11.85 is a significant difference. Here are some analogies:
- Weather analogy: If the chance of rain on a sunny day is 5%, then 11.85 times higher would be like a 59% chance on a cloudy day.
- Coin flip analogy: It's like comparing the odds of getting heads once (50%) versus getting heads at least 4 times out of 5 flips.
- Real-world impact: This difference is large enough that it meaningfully changes how we monitor and support your child.
See the statistical evidence
Statistical Significance
- Odds Ratio: 11.85 (95% Confidence Interval: 3.26 – 43.1)
- P-value: <0.001 (highly statistically significant)
- What this means: We can be >99.9% confident this difference is real, not due to chance
Study Population
- 433 children with family history of T1D
- 110 in higher risk group, 323 in lower risk group
- 81.5% Caucasian, mean age 8.3 years
- Tested using ADAP assay for multiple autoantibodies
Autoantibody Positivity by Risk Group
10 in 100 children
<1 in 100 children
Data from T1D Scout clinical validation study (n=433)
Risk Group Comparison
| Metric | Higher Risk Group | Lower Risk Group |
|---|---|---|
| Percentage of Total | Top 20% | Bottom 80% |
| Children in Study | 110 children | 323 children |
| Multiple Antibody Positive | 11 children (10.0%) | 3 children (0.93%) |
| Multiple Antibody Negative | 99 children (90.0%) | 320 children (99.07%) |
| Odds Ratio | 11.85× higher | Reference (1.0×) |
| Recommended Action | Autoantibody testing + regular monitoring | Baseline test optional, less intensive follow-up |
The Science Behind the Test
Our genetic risk model was developed through rigorous scientific research and validated in real-world families. Here's how we built a test you can trust.
50 Carefully Selected Genetic Markers
Your DNA contains millions of genetic variants, but only a small number are associated with Type 1 Diabetes risk. We selected 50 specific variants (called SNPs, or "single nucleotide polymorphisms") based on:
- Large-scale research studies: Thousands of individuals with T1D studied worldwide
- Replicated findings: Only variants confirmed across multiple independent studies
- Known biology: Variants in genes involved in immune system function
- HLA and non-HLA variants: Including the major histocompatibility complex (HLA) genes on chromosome 6, which account for ~50% of T1D genetic risk
What Makes Our Approach Different: No Imputation Required
Most genetic risk scores use a statistical technique called "imputation" to guess at genetic variants that weren't directly measured. This can introduce errors, especially in non-European populations.
Our test directly measures all 50 variants on a standard genotyping array — no guessing, no imputation. This means:
- More accurate results
- Better performance across diverse ancestries
- Simpler laboratory implementation
- Easier to validate and reproduce
See technical specifications
- Genotyping Platform: Illumina Global Screening Array (GSA)
- Sample Type: Saliva-derived DNA
- Variants Measured: 50 SNPs directly genotyped (no imputation)
- Variant Selection Criteria: Published in large-scale T1D GWAS studies; low linkage disequilibrium (r² < 0.2); replicated across independent cohorts; MAF > 1%
- Laboratory Certification: CLIA-certified laboratory
- Quality Control: Standard QC including call rate, sex concordance, Hardy-Weinberg equilibrium
Training with Real Cases and Controls
To build our risk model, we used machine learning techniques to find the optimal way to combine all 50 genetic variants into a single risk score. Here's what we used:
Training Data:
- 179 individuals with confirmed Type 1 Diabetes (cases), recruited through the T1D Exchange registry — adults with established T1D diagnosis, diverse racial and ethnic backgrounds
- ~1,000 healthy controls without diabetes: in-house Type 2 Diabetes controls (~130), UK Biobank healthy participants (~870), matched for ancestry, filtered to exclude misclassified cases
Why This Ratio?
We deliberately used a balanced ratio of cases to controls (about 1:5.6) rather than using all available controls. This prevents the model from being overwhelmed by the control group and helps it learn to accurately identify T1D risk rather than just predicting "not T1D" for everyone.
The Statistical Model: Regularized Logistic Regression
We used a statistical technique called regularized logistic regression with:
- Cross-validation: Tested model performance on held-out data to prevent overfitting
- L2 regularization: Prevents the model from relying too heavily on any single variant
- Stratified folds: Ensured each test fold had balanced cases and controls
The result: A model that generalizes well to new individuals and doesn't memorize the training data.
Model Development Timeline
Variant Selection
50 SNPs selected from T1D GWAS literature.
Training
179 T1D cases + 1,000 controls.
Validation
91 independent T1D cases + 150,000 population controls.
Real-World Testing
531 children with family history.
Tested Against 150,000+ Controls
After training our model, we tested it on completely independent data that the model had never seen before. This is the gold standard for validating machine learning models.
Validation Results:
- 91 independent T1D cases (not used in training)
- 150,000+ UK Biobank population controls
- AUC = 0.934 (95% CI: 0.930 – 0.938)
What Does AUC Mean?
AUC stands for "Area Under the Curve" and measures how well the model can distinguish between people with T1D and people without T1D.
- AUC = 0.50: No better than a coin flip
- AUC = 0.70–0.80: Acceptable discrimination
- AUC = 0.80–0.90: Excellent discrimination
- AUC = 0.90+: Outstanding discrimination
Our model: AUC = 0.934. This is equivalent to leading research models (GRS1: 0.88–0.92, GRS2: 0.92) and demonstrates our test can accurately distinguish genetic risk levels.
Prospectively Tested in 531 Real Families
The ultimate test of any genetic risk score is: Does it work in real families who are seeking T1D screening? We prospectively validated our model in a real-world cohort.
Study Design:
- 1,000+ families enrolled through digital advertising
- Fully remote: At-home saliva DNA testing + at-home autoantibody testing
- No selection bias: Any family with a T1D-affected member could enroll
- 531 children provided both DNA and autoantibody results
- Prospective design: DNA results determined before antibody testing, not after
Why This Matters
Most genetic risk scores are only validated in research databases — case-control studies where you already know who has T1D and who doesn't. We went further and tested our model prospectively in real families seeking screening, where we didn't know the outcome in advance. This is a much stronger validation.
Study Results (Caucasian participants)
- Higher Risk: 10.00% multiple antibody positive
- Lower Risk: 0.93% multiple antibody positive
- Odds Ratio: 11.85 (95% CI: 3.26 – 43.1)
- Statistical Significance: p < 0.001
This prospective validation confirms that our genetic risk score meaningfully stratifies real-world autoantibody risk in families with T1D history.
Real-World Study Flow
Who We Studied
Age Distribution — Mean age: 8.3 years
- 0–5 years: 35%
- 6–10 years: 40%
- 11–15 years: 20%
- 16–19 years: 5%
Ethnicity (n=531)
- Caucasian: 81.5%
- Hispanic/Latino: 8%
- African American: 4%
- Asian: 3%
- Other/Mixed: 3.5%
Prior Screening: Most families (75%+) had never been screened before.
Being Honest About What We Can and Cannot Predict
Transparency is important to us. No genetic test can predict the future with certainty. Here's what our DNA test can tell you — and what it cannot.
Our DNA test measures your child's inherited genetic risk for Type 1 Diabetes. It's very good at identifying who is more likely to develop autoantibodies (the earliest sign of the autoimmune process). But like all genetic tests, it has limitations.
What We Know
- Your Child's Genetic Risk LevelYour child inherited specific genetic variants that influence T1D risk. We know exactly which variants they have and what their combined risk score is.
- Likelihood of Current Autoantibodies10% of higher-risk children have autoantibodies now, versus <1% of lower-risk children.
- Comparative Risk Between GroupsHigher-risk children are 11.85 times more likely to have autoantibodies than lower-risk children.
- Population-Level Accuracy93.4% accuracy (AUC) in distinguishing T1D cases from controls.
- Which Group Benefits Most from MonitoringHigher-risk individuals clearly benefit from regular autoantibody screening.
What We Don't Know
- Individual Progression TimelineWe can't predict exactly when autoantibodies will appear, or how quickly they'll progress from Stage 1 to Stage 3 T1D.
- Exact Lifetime T1D ProbabilityWe can't give an exact percentage for your specific child.
- Whether Autoantibodies Will Develop90% of higher-risk children in our study were antibody-negative. Some may never develop them.
- Environmental TriggersViruses, diet, gut microbiome also play a role — we can't predict exposures.
- Response to Future TreatmentsWe can't predict how your child would respond to disease-modifying therapies.
The Value of Knowing Your Genetic Risk
You might be wondering: If you can't tell me exactly whether my child will get T1D, why do the test at all? Here's why genetic risk information is valuable, even with limitations:
1. Early Detection Prevents Serious Complications
The DKA Problem: When Type 1 Diabetes is diagnosed after symptoms appear (the traditional way), 30–60% of children present with diabetic ketoacidosis (DKA) — a life-threatening emergency.
Early Screening Changes This: When children are monitored through autoantibody screening and caught before symptoms, DKA rates drop to less than 5%.
How Genetic Testing Helps: By identifying higher-risk children who need autoantibody monitoring, we prevent the majority of DKA cases. This isn't just about avoiding a scary hospitalization — DKA causes lasting harm:
- Cerebral edema (brain swelling)
- Long-term cognitive effects
- Worse glucose control for years after diagnosis (HbA1c higher by 0.9–1.4% for up to 15 years)
2. Access to Disease-Modifying Therapy
Teplizumab (Tzield): In November 2022, the FDA approved the first drug that can delay Type 1 Diabetes onset. Teplizumab delays median progression from Stage 2 to Stage 3 by about 32.5 months (nearly 3 years).
Who Qualifies: Only people identified in Stage 1 or Stage 2 T1D — before symptoms appear. You can't benefit from this therapy if you don't know you're at risk.
Pipeline of New Therapies: Multiple other disease-modifying therapies are in clinical trials. The earlier you identify risk, the more options your child may have in the future.
3. Targeted Monitoring vs. Anxiety-Driven Testing
The Problem with "Test Everyone": If we autoantibody-test every child with family history repeatedly, we create unnecessary anxiety for lower-risk families, high cost and burden (blood draws every 6–12 months), and many families avoid screening altogether because it's too much.
Genetic Risk Stratification: Higher-risk children get intensive monitoring where it matters most. Lower-risk children can be reassured and avoid frequent blood draws. Families feel empowered by knowledge rather than paralyzed by uncertainty.
Research Shows: In our study, parental anxiety decreased significantly after a lower-risk DNA result (from 36.9 to 26.6 on STAI-6 scale). Reassurance has real value.
4. Family Planning and Preparation
Even without a crystal ball, knowing your child's genetic risk helps your family:
For Higher-Risk Families:
- Learn the warning signs of T1D (increased thirst, urination, weight loss)
- Educate extended family, teachers, and caregivers
- Prepare emotionally and logistically
- Make informed decisions about clinical trial participation
- Connect with the T1D community before diagnosis (if it comes)
For Lower-Risk Families:
- Feel reassured while staying appropriately vigilant
- Make informed decisions about autoantibody testing frequency
- Reduce anxiety about every symptom
- Focus energy on other aspects of health and wellness
While we can't predict your child's individual path, large research studies have shown:
Multiple Autoantibody Positive (Stage 1 T1D): ~70% progress to Stage 3 (clinical diabetes) within 10 years · ~100% lifetime progression risk · Progression can happen quickly (months) or slowly (decades).
Single Autoantibody Positive: Much lower and more variable risk · Many revert to negative on follow-up testing · We don't count single positives for this reason.
Autoantibody Negative: Very low near-term risk · Can occasionally convert to positive later · Most children with family history never develop autoantibodies.
Sources: Insel et al. 2015 (staging guidelines), Steck et al. 2015 (TEDDY study)
Our Clinical Validation Study
We didn't just validate our genetic risk model in research databases. We tested it prospectively in real families seeking T1D screening — the same families you represent.
A Real-World, Fully Remote Screening Program
Study Population: Children under 19 with at least one family member with Type 1 Diabetes. No other eligibility restrictions (real-world inclusion). Nationwide enrollment through digital advertising.
Study Procedures:
- Online enrollment: Parents consented electronically
- At-home DNA collection: Saliva sample, mailed to CLIA-certified lab
- Genetic risk stratification: Higher risk (top 20%) or lower risk (bottom 80%)
- At-home autoantibody testing: All participants offered dried blood spot testing
- Genetic counseling: Provided to all higher-risk families
What Made This Study Unique:
- Fully Remote — no clinic visits, no healthcare provider referral
- Universal Autoantibody Testing — both higher and lower risk groups tested
- Prospective Design — genetic risk determined before antibody results known
- Real-World Cohort — families who sought screening, not research volunteers
- Fast Enrollment — 3,000+ families registered within weeks
Higher Risk = Higher Autoantibody Rates
| Group | Multiple AAb Positive | AAb Negative | Total |
|---|---|---|---|
| Higher Risk (Top 20%) | 11 (10.00%) | 99 (90.00%) | 110 |
| Lower Risk (Bottom 80%) | 3 (0.93%) | 320 (99.07%) | 323 |
| Total | 14 (3.23%) | 419 (96.77%) | 433 |
- Odds Ratio: 11.85 (95% CI: 3.26 – 43.1)
- Fisher's Exact Test: p < 0.001
- Interpretation: Highly statistically significant difference
What These Results Mean
Overall Autoantibody Rate: ~3%. The overall multiple autoantibody positivity rate in our cohort (3.23%) is consistent with published rates in first-degree relatives: TrialNet 5.5%, INNODIA 6%, Type1Screen 5.9%. This confirms our study population represents a typical family-history cohort.
Risk Stratification Works. The genetic test successfully identified a higher-risk subgroup (top 20%) with 10% autoantibody positivity — nearly 2× the average FDR rate — and a lower-risk subgroup (bottom 80%) with <1% autoantibody positivity, similar to the general population.
Is Genetic Risk Disclosure Safe? Measuring Parental Anxiety
One concern about genetic testing is: Will learning your child is at higher risk cause excessive anxiety? We measured parental anxiety at multiple timepoints to answer this question.
Method: We used the STAI-6 (State-Trait Anxiety Inventory, 6-item version). Parents completed it at T0 (before results), T1 (after DNA result), and T2 (after genetic counseling, positive group only).
Results:
- Negative (Lower Risk) Result: Baseline 36.9 → After result 26.6. Decrease of 10.3 points (statistically significant). A lower-risk result provides meaningful reassurance.
- Positive (Higher Risk) Result: Baseline 43.0 → After result 43.0 → After counseling 35.8. Anxiety doesn't spike dramatically, and counseling helps normalize it.
Key Takeaways
- Lower-risk results reduce anxiety: Parents feel meaningfully reassured
- Higher-risk results don't cause panic: Anxiety remains in normal-to-moderate range
- Genetic counseling helps: Post-counseling anxiety returns to near-baseline
- Remote delivery is safe: Telehealth counseling is effective for anxiety management
"I was terrified before testing. When we got a lower-risk result, I finally felt like I could breathe. We're still watching for symptoms, but I'm not constantly worried anymore." — Parent from our study
How T1D Scout Compares to Other Options
Families with T1D history have several options for screening. Here's how our DNA test fits into the landscape — and what makes our approach unique.
| Feature | T1D Scout DNA Test | TrialNet (Research) | Traditional Clinical Testing |
|---|---|---|---|
| Sample Type | Saliva (at home) | Blood draw (clinic visit) | Blood draw (clinic visit) |
| Location | Nationwide (fully remote) | Limited sites (~150 US) | Depends on provider access |
| Speed | Fast — 2–3 weeks | Varies — Research pace | Varies — Depends |
| Cost | Paid — $89 | Free | Varies — Insurance / OOP |
| Genetic Risk Stratification | Yes — 50-SNP model | No — Antibodies only | No — Usually not |
| Autoantibody Testing | Yes — Optional add-on | Yes — Primary test | Yes — Primary test |
| Genetic Counseling | Yes — Included | No — Not routinely | No — Rarely |
| Research vs. Clinical | Clinical product | Research participation | Clinical service |
| Designed For | Families wanting convenient, comprehensive risk assessment | Families willing to participate in research | Families with provider access and referral |
What Makes T1D Scout Different
1. Saliva vs. Blood
Blood draws are a major barrier to T1D screening, especially in young children. In our study:
- 80% of families returned DNA test kits (saliva)
- 60% of families returned autoantibody test kits (blood)
The 20-point gap shows that even within motivated families, blood draws reduce participation. Saliva-based genetic testing removes this barrier for the first step.
2. Genetic Risk Stratification First
Traditional approach:
T1D Scout approach:
Why This Works Better:
- Targeted resources: Focus intensive monitoring on the 20% who need it most
- Reduced burden: 80% of families can avoid frequent blood draws
- Better engagement: Families more likely to complete screening when burden is lower
- Psychological benefit: Lower-risk families feel reassured rather than anxious
3. Designed as a Product, Not a Research Program
TrialNet and other research programs are excellent — but they're research. That means research timelines and protocols, data used for scientific studies, possible enrollment criteria or capacity limits, and a focus on advancing science (which benefits everyone long-term).
T1D Scout is a clinical product: Consumer-focused experience, fast turnaround designed for families, no enrollment restrictions (if you have family history, you can test), and support services built in (genetic counseling).
Both Are Valuable. We're not competing with research programs — we're complementary. Some families prefer free research programs and are happy to participate in studies. Others prefer a fast, convenient product designed specifically for their needs.
4. Validated in Real-World Families
Most genetic risk scores are validated in case-control research cohorts: databases where you already know who has T1D and who doesn't. We went further: we prospectively validated our model in 531 real families seeking screening, measuring autoantibody positivity as an independent endpoint. This is a more rigorous validation that reflects real-world performance.
Can You Trust This Test?
We hold ourselves to the highest scientific and clinical standards. Here's what backs up our DNA test.
Quality Standards
CLIA-Certified Laboratory
All DNA testing is performed in a laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA), ensuring strict quality control procedures, regular proficiency testing, standardized protocols, and regulatory compliance.
Validated Assay
Our 50-SNP panel is run on the Illumina Global Screening Array, a widely-used, clinically-validated genotyping platform with high call rates (>99%), low error rates, established protocols, and extensive quality control checks.
Standard Quality Control
Every sample undergoes:
- Call rate threshold checks (>95%)
- Sex concordance verification
- Ancestry inference
- Duplicate sample detection
- Hardy-Weinberg equilibrium testing (in controls)
Samples that fail QC are reprocessed or excluded to ensure accuracy.
Model Performance Metrics
Comparison to Published Research Models
We benchmark our model against the leading published genetic risk scores:
Our model performs at or above the level of leading research models (GRS1, GRS2), while offering key advantages: no imputation required, standard genotyping array (GSA), saliva-compatible, and prospectively validated in real families.
See full technical specifications
Genetic Variants
- 50 SNPs directly genotyped (no imputation)
- Selected from T1D GWAS literature (2007–2022)
- Low linkage disequilibrium (r² < 0.2 within windows)
- Includes HLA region variants (chromosome 6) and non-HLA loci
- All variants MAF > 1% in European populations
Statistical Model
- Algorithm: Regularized logistic regression (L2 penalty)
- Training: 179 T1D cases, ~1,000 controls (5.6:1 ratio)
- Cross-validation: Stratified 5-fold CV for hyperparameter tuning
- Validation: 91 independent T1D cases, 150,000+ population controls
- Score scale: Base-10 log-odds, probability = 10^s / (1 + 10^s)
Quality Control
- Per-sample call rate: >95%
- Per-marker call rate: >98%
- Hardy-Weinberg equilibrium: p > 1×10⁻⁶ in controls
- Sex concordance: self-report vs. genetic inference must match
- Ancestry inference: Principal components analysis (PCA)
Laboratory
- CLIA-certified facility
- Platform: Illumina Global Screening Array (GSA) v2.0
- Sample type: Saliva-derived DNA
- DNA extraction: Standard protocols with quality checks
- Genotyping call rate: >99.5% typical
Validation Endpoint
- Primary: Multiple autoantibody positivity (≥2 of GAD65, IA-2, insulin)
- Assay: ADAP (Antibody Detection by Agglutination-PCR)
- Sample: Dried blood spot card (at-home capillary collection)
- Sensitivity: Comparable to standard radioimmunoassay (RIA)
What You Should Know About Limitations
No test is perfect. We want you to understand the limitations of our DNA test so you can make informed decisions.
1. Ancestry and Performance
Our model was developed and validated primarily in populations of European (Caucasian) ancestry. While the test works in diverse populations, performance may vary.
What Our Data Shows:
- Caucasian participants (81.5% of our study): OR = 11.85, highly significant
- Non-Caucasian participants: smaller sample size, less precise estimates
Why This Happens: Genetic risk variants have different frequencies across ancestries, and effect sizes may differ. Most T1D genetic research has been conducted in European populations, so models tend to work best there.
What We're Doing About It: We're actively working on multi-ancestry validation studies, particularly focusing on East Asian populations (to support our Japan program and expand globally).
What This Means for You: If your child is primarily of European ancestry, our test is well-validated. If your child has mixed or non-European ancestry, the test will still provide information, but estimates may be less precise. We'll clearly communicate confidence in your specific case.
2. Genetic Risk ≠ Certainty
Genetic risk is probabilistic, not deterministic. Higher genetic risk means higher probability, not certainty.
Accurate "Children with higher genetic risk are 11.85 times more likely to have autoantibodies"
Misleading "Children with higher genetic risk will definitely get Type 1 Diabetes"
The Reality: 90% of higher-risk children in our study did NOT have autoantibodies. Some children with lower genetic risk DO develop autoantibodies (~1%). Genetics is only part of the story — environment matters too.
How to Think About It: Genetic testing changes probabilities, not destinies. It helps us know who needs closer monitoring, but it doesn't predict individual outcomes with certainty.
3. What the Test Cannot Do
- Cannot diagnose Type 1 Diabetes. This is a screening test for genetic risk, not a diagnostic test. If your child has symptoms of T1D, see a doctor immediately — don't wait for test results.
- Cannot predict exact timing. We can't tell you when (or if) autoantibodies will appear, or how fast progression will occur.
- Cannot replace autoantibody testing. Genetic risk stratification is a first step. Higher-risk individuals still need autoantibody monitoring to detect actual disease onset.
- Cannot assess environmental risk. We only measure genetic factors. Environmental triggers (viruses, diet, etc.) also play a role and aren't captured by this test.
- Cannot predict treatment response. If your child develops Stage 1 or Stage 2 T1D, we can't predict how they'll respond to therapies like teplizumab.
4. False Reassurance Risk (Lower Risk Group)
A lower-risk result doesn't mean zero risk. Some children with lower genetic risk can still develop T1D.
What Our Data Shows: 0.93% of lower-risk Caucasian children had autoantibodies. This is ~1 in 100 — rare, but not zero.
How to Stay Safe:
- Learn the warning signs of T1D (thirst, urination, weight loss, fatigue)
- Consider a baseline autoantibody test for peace of mind
- Don't ignore symptoms just because genetic risk is lower
- Retest antibodies if symptoms develop
Our Recommendation: Lower risk means you can be reassured and avoid intensive monitoring, but maintain appropriate vigilance.
5. Longitudinal Data Limitations
Our real-world validation study measured autoantibody status at a single time point (cross-sectional), not progression to clinical T1D over time (longitudinal).
What We Know: Genetic risk predicts current autoantibody status (proven). Multiple autoantibodies predict T1D progression (well-established in literature).
What We're Still Learning: Long-term progression rates in our cohort specifically, and whether genetic risk predicts speed of progression from Stage 1 to Stage 3.
Our Plan: We're following our cohort longitudinally to generate this data. As results become available, we'll update our understanding and recommendations.
We will always be honest about what our test can and cannot do. As we learn more through ongoing research and follow-up studies, we'll update our materials to reflect the latest evidence.
If new data suggests our test performs differently than expected in certain groups, we'll communicate that clearly. Your trust matters more to us than marketing claims.
Questions about limitations? Contact our genetic counseling team — we're here to help you understand.
Your Questions Answered
We've compiled answers to the most common questions families ask about our DNA test.
Q1. Is genetic risk the same as having Type 1 Diabetes?
No. Genetic risk means you inherited DNA variants that make you more susceptible to developing T1D, but it's not a diagnosis. Think of it like inheriting a risk for high cholesterol — genes increase the likelihood, but environment, lifestyle, and chance also play roles. Most children with higher genetic risk (90% in our study) do NOT currently have autoantibodies, and many will never develop T1D.
Q2. If my child has higher genetic risk, will they definitely get Type 1 Diabetes?
No. Higher genetic risk means they're more likely to develop the autoimmune process that leads to T1D, but it's not certain. In our study, 10% of higher-risk children had autoantibodies (Stage 1 T1D) and 90% did NOT. Even among those who develop autoantibodies, progression timelines vary widely — some progress quickly, others slowly, and new therapies may delay or prevent progression.
Q3. If my child has lower genetic risk, are they definitely safe from Type 1 Diabetes?
No. Lower genetic risk means they're much less likely to develop T1D compared to higher-risk children, but risk isn't zero. In our study, 0.93% of lower-risk Caucasian children had autoantibodies — about 1 in 100, rare but possible. Your child still has a family history, which carries some elevated risk. A lower genetic risk result provides reassurance and suggests less intensive monitoring is appropriate, but doesn't eliminate all risk.
Q4. What does "11.85 times more likely" actually mean?
It means the odds of having autoantibodies in the higher-risk group are 11.85 times the odds in the lower-risk group. Concretely: lower-risk group — about 1 in 100 children (0.93%) had autoantibodies. Higher-risk group — about 10 in 100 children (10%) had autoantibodies. If you line up 100 higher-risk kids and 100 lower-risk kids, you'd expect to find autoantibodies in about 10 of the higher-risk children and just 1 of the lower-risk children. This is a statistically significant, clinically meaningful difference that changes how we recommend monitoring.
Q5. Can my child's genetic risk change over time?
No. Your DNA doesn't change, so your genetic risk score stays the same throughout life. However, your autoantibody status can change — that's what we're monitoring for in higher-risk individuals. Think of genetic risk as the "background probability" you were born with. Autoantibodies are the "signal" that the disease process has actually started.
Q6. How do you collect DNA from my child?
We use a saliva (spit) sample collected at home. Here's how it works:
- We send you a collection kit with a special tube
- Your child spits into the tube until it reaches the fill line (usually 1–2 minutes)
- You close the tube, which releases a preservative to stabilize the DNA
- Mail it back to our lab in the prepaid envelope
No blood draw, no needles, no clinic visit required. Most children find it easy and painless.
Q7. What genetic variants are you testing?
We test 50 specific genetic variants (SNPs — single nucleotide polymorphisms) that have been associated with Type 1 Diabetes risk in large research studies. These include:
- HLA region variants on chromosome 6 (account for ~50% of genetic risk)
- Non-HLA variants in immune-related genes throughout the genome
All 50 variants are directly measured from your child's DNA — we don't use imputation (statistical guessing), which makes the test more accurate and less prone to ancestry-related errors.
Q8. How accurate is the test?
The test has 93.4% accuracy (AUC = 0.934) in distinguishing people with Type 1 Diabetes from population controls. This is considered "outstanding" discrimination and is equivalent to leading research models.
In our real-world validation study of 531 children with family history: higher-risk children were 11.85 times more likely to have autoantibodies, the difference was highly statistically significant (p < 0.001), and results were consistent with what we expected based on model performance. No test is 100% perfect, but our accuracy is among the best available for T1D genetic risk prediction.
Q9. Does the test work for all ethnicities?
The test works best for children of European (Caucasian) ancestry, which was 81.5% of our validation study. It will still provide information for children of other ancestries, but the estimates may be less precise. This limitation exists because most T1D genetic research has been done in European populations, genetic variant frequencies differ across ancestries, and effect sizes may vary by population. We're actively working on multi-ancestry validation studies to improve performance in diverse populations.
Q10. My child has higher genetic risk. What should I do now?
We recommend:
- Autoantibody Testing: Proceed with our at-home autoantibody test (or through your doctor) to check current status.
- If Autoantibodies Are Positive (Stage 1 T1D): regular monitoring every 6–12 months; education on T1D symptoms and warning signs; discussion of clinical trials or disease-modifying therapies (like teplizumab); connection to endocrinology specialists.
- If Autoantibodies Are Negative: repeat antibody testing every 6–12 months; stay aware of T1D symptoms; continued monitoring as recommended.
- Genetic Counseling: Schedule a session with our genetic counselors to discuss implications, next steps, and answer questions.
Q11. My child has lower genetic risk. What should I do now?
Your child's lower genetic risk provides reassurance, but doesn't eliminate all risk. We recommend:
- Consider Baseline Autoantibody Test: Optional, but can provide additional peace of mind.
- Stay Informed: Learn the warning signs of T1D; educate family, teachers, and caregivers; keep family history in mind.
- Less Intensive Monitoring: Annual or less frequent antibody testing may be sufficient (vs. every 6–12 months for higher-risk).
- Don't Ignore Symptoms: If T1D symptoms develop, see a doctor immediately regardless of genetic risk level.
Think of it this way: you can feel reassured and avoid the burden of frequent testing, while maintaining appropriate awareness.
Q12. Should I still do autoantibody testing if the genetic test is lower risk?
It's your choice.
Reasons to do a baseline antibody test: provides additional information and peace of mind; rules out current autoimmunity; establishes a negative baseline for future comparison; still recommended by some guidelines for all first-degree relatives.
Reasons you might skip intensive antibody monitoring: burden of repeated blood draws; very low probability (<1%) of finding autoantibodies; cost considerations; can always test later if symptoms develop or concerns arise.
Our Recommendation: at minimum, do one baseline autoantibody test. After that, annual or less frequent testing is reasonable for lower-risk individuals, rather than every 6–12 months.
Q13. Can my child participate in clinical trials?
Yes, potentially. Many Type 1 Diabetes prevention trials are looking for participants, especially children with autoantibodies (Stage 1 or Stage 2 T1D), children with family history and higher genetic risk, and children in specific age ranges. If your child has higher genetic risk and/or positive autoantibodies, they may be eligible for trials testing disease-modifying therapies, prevention strategies, and monitoring protocols. We can connect you with clinical trial coordinators and provide information about ongoing studies.
Q14. How is this different from TrialNet?
TrialNet is an excellent research program that offers free autoantibody screening to families with T1D history.
TrialNet: Free autoantibody testing · research-quality data and follow-up · requires blood draw (clinic visit) · ~150 sites in the US · no genetic risk stratification · research timelines.
T1D Scout DNA Test: at-home saliva collection · nationwide availability · genetic risk stratification before antibody testing · fast turnaround (2–3 weeks) · genetic counseling included · $89 cost.
Both are valuable. Some families prefer free research programs. Others prefer the convenience and genetic information from our test. You can also use both.
Q15. Why should I pay for your test when TrialNet is free?
Great question. Here's what you're paying for:
- Convenience: no clinic visits, no blood draws, no geographic limitations.
- Genetic Risk Information: guides how intensively you should monitor.
- Fast Results: 2–3 week turnaround designed for families.
- Product Experience: customer support, genetic counseling, streamlined process.
- Peace of Mind: 80% of families receive lower-risk results and feel reassured.
Free programs are excellent, but require blood draws and clinic access. Many families in our study (75%+) had never been screened despite family history — barriers kept them from accessing free programs. We remove those barriers.
Q16. What is an odds ratio, and why does it matter?
An odds ratio (OR) tells you how much more (or less) likely an outcome is in one group compared to another.
In our study: Higher-risk children — 10.00% had autoantibodies. Lower-risk children — 0.93% had autoantibodies. Odds ratio: 11.85.
Context in medical research: OR < 1.5 weak, 1.5–3.0 moderate, >3.0 strong, >10 very strong (that's us). An OR of 11.85 is large and clinically significant — strong evidence that the genetic test is capturing real biological differences between groups.
Q17. What is AUC, and why is 0.934 good?
AUC stands for "Area Under the Curve" (specifically, the ROC curve). It measures how well a test can distinguish between two groups.
AUC scale: 0.50 no better than chance · 0.70–0.80 acceptable · 0.80–0.90 excellent · 0.90–1.00 outstanding (our model).
Our AUC = 0.934 means the test is very good at distinguishing people with Type 1 Diabetes from those without. Analogy: If you randomly picked one person with T1D and one person without and asked the model to identify which is which, it would correctly identify the T1D person 93.4% of the time.
Q18. What's the difference between genetic risk and autoantibodies?
Genetic Risk (DNA Test): Measures inherited genetic variants you were born with. Fixed at birth. Meaning: probability/susceptibility to developing T1D autoimmunity. Analogy: your "starting point."
Autoantibodies (Blood Test): Measures current presence of antibodies attacking pancreatic beta cells. Can appear at any age and change over time. Meaning: the autoimmune process has actually started (Stage 1 T1D). Analogy: the "signal" that disease has begun.
How They Relate: Genetic risk predicts who is more likely to develop autoantibodies. Most people with higher genetic risk (~90%) do NOT have autoantibodies yet. Some people with lower genetic risk (<1%) DO have autoantibodies.
Q19. How many people have you tested with this model?
Our model has been evaluated in multiple cohorts:
- Model Training: 179 T1D cases, ~1,000 healthy controls
- Independent Validation: 91 additional T1D cases (not used in training), 150,000+ UK Biobank population controls
- Real-World Prospective Validation: 531 children with family history of T1D, 433 Caucasian participants (primary analysis)
Total: Over 150,000 individuals across all validation stages, with prospective testing in 531 real families seeking screening.
Q20. Is my child's genetic information private?
Yes. We take data privacy very seriously and comply with all applicable regulations:
- HIPAA Compliance: Protected health information is secured per federal law
- Encrypted Storage: All genetic data is encrypted at rest and in transit
- Limited Access: Only authorized personnel can access identifiable information
- No Selling: We will never sell your genetic data to third parties
- Research Use: De-identified data may be used for research, but only with your explicit consent
You own your genetic information. You can request deletion at any time.
Q21. Will this affect my child's insurance?
The Genetic Information Nondiscrimination Act (GINA) protects against genetic discrimination:
- Covered Health Insurance: GINA prohibits health insurers from using genetic information to deny coverage or raise premiums
- Covered Employment: GINA prohibits employers from using genetic information in hiring, firing, or promotion decisions
- Not covered Life Insurance: GINA does NOT cover life insurance, disability insurance, or long-term care insurance
Consult with our genetic counselors if you have concerns about insurance. In general, genetic risk information (especially pre-symptom) should not affect health insurance coverage.
Q22. Is the saliva test safe for my child?
Yes, completely safe. Saliva collection involves spitting into a tube (no needles, no invasive procedures), takes 1–2 minutes, has no discomfort or risk, and is suitable for children of all ages who can spit into a container.
The preservative solution in the tube is non-toxic but should not be swallowed — keep the kit away from very young children who might try to drink it.
Q23. How much does the test cost?
The DNA test is $89. This includes at-home saliva collection kit, DNA genotyping on clinical-grade platform, genetic risk score calculation, result report and interpretation, and access to genetic counseling.
Optional Add-On: autoantibody test (additional cost).
Compare to: clinical genetic testing often $200–500+, traditional doctor visits + lab work (variable, depends on insurance), research programs (free, but require blood draws and clinic visits).
Q24. Does insurance cover this test?
Currently, most insurance plans do not cover predictive genetic testing for Type 1 Diabetes risk. We are working toward insurance coverage, but for now, this is an out-of-pocket expense. Genetic risk testing for T1D is relatively new; insurance typically covers diagnostic testing, not risk prediction; reimbursement requires evidence of clinical utility and cost-effectiveness (which we're building).
Q25. How long does it take to get results?
Typical timeline:
- Order Kit: 3–5 business days for delivery
- Collect Sample: takes 2 minutes
- Return to Lab: 2–3 days shipping
- Lab Processing: 10–14 days (genotyping + analysis)
- Results Delivered: secure online portal + email notification
Total time from sample collection to results: ~2–3 weeks.
Q26. What if the sample fails or doesn't work?
Sometimes samples fail quality control. If this happens, we'll contact you and send a replacement kit at no charge — no additional cost for reprocessing. Common reasons: not enough saliva, eating/drinking shortly before collection, kit damage in shipping. Success rate: ~95%+ on the first attempt.
Tips for success: don't eat, drink, or chew gum for 30 minutes before collection; follow instructions carefully; mail the sample within 24 hours of collection; use the prepaid envelope.
Q27. How old does my child need to be?
Our program is designed for children under 19 years old with family history of T1D. There's no minimum age — if your child can spit into a tube, they can be tested.
Young Children (0–5): may need help understanding what to do; parents can demonstrate first. School-Age (6–12): usually easy — most kids think it's fun. Teens (13–19): should be involved in decision-making; may have questions about results.
Q28. Should I test multiple children in my family?
If you have multiple children with the same family history of T1D, then yes, each child's genetic risk should be assessed individually. Siblings don't inherit identical genetics (each gets 50% from each parent, but different combinations) — one sibling might be higher risk, another lower risk. Contact us about multi-child testing discounts.
Q29. My child has autism/ADHD/developmental differences. Can they still be tested?
Yes. The test only requires a saliva sample — no behavioral cooperation beyond spitting into a tube.
Accommodations: demonstrate the process; use social stories or visual schedules; practice with a similar container first; break it into small steps; offer rewards/incentives. If your child truly cannot provide a saliva sample, contact us to discuss alternative collection methods.
Q30. How do I explain this test to my child?
Young Children (5–8): "We're going to find out a little bit about your body. Some kids have a higher chance of getting a thing called Type 1 Diabetes, like [family member]. We're going to check if you're one of those kids so we can keep you extra healthy."
Older Children (9–12): "You know how [family member] has Type 1 Diabetes? Sometimes it runs in families. We can test your DNA — the instructions your body uses — to see if you might be more likely to get it too. This helps us watch for it early, which keeps you safer."
Teens (13+): "Because [family member] has Type 1 Diabetes, you have a higher chance of developing it too. This DNA test looks at your genes to see if your risk is higher or lower than average. If it's higher, we'll do some monitoring to catch it early — there are even treatments now that can delay it. If it's lower, that's great news."
Key Points to Emphasize: this is NOT a test to see if they have diabetes now; higher risk doesn't mean they'll definitely get it; we're being proactive and careful; knowledge helps us keep them healthy.
Your Testing Journey
Order
Order online, provide family history. Kit ships within 3–5 days.
Collect
Simple at-home saliva collection. Mail back in prepaid envelope.
Analysis
DNA genotyping in CLIA-certified lab. 50 variants analyzed, risk score calculated.
Results
Secure online results portal. Higher Risk or Lower Risk category.
Counseling
Genetic counseling session (if higher risk). Discuss implications, next steps.
Monitoring
Autoantibody testing based on risk level. Early detection, peace of mind.
Scientific Foundation
Our test is built on peer-reviewed research and validated clinical studies. Here are the key scientific publications that support our approach.
Primary Publication
T1D Scout Validation Study (In preparation for
publication)
"A Scalable, Imputation-Free Genetic Risk Score for Population-Level
Type 1 Diabetes Screening: Development, Validation, and Real-World
Deployment in a Fully Remote At-Home Program."
Key Findings: AUC 0.934 in distinguishing T1D from population controls; prospectively validated in 531 families; OR 11.85 for autoantibody positivity (higher vs. lower risk).
- Insel RA, et al. (2015). "Staging presymptomatic type 1 diabetes: a scientific statement of JDRF, the Endocrine Society, and the American Diabetes Association." Diabetes Care 38(10):1964–1974. — Defines Stage 1, 2, and 3 T1D; establishes autoantibody-based staging system.
- Steck AK, et al. (2015). "Predictors of progression from the appearance of islet autoantibodies to early childhood diabetes: the Environmental Determinants of Diabetes in the Young (TEDDY)." Diabetes Care 38(5):808–813. — Multiple autoantibodies predict progression.
- Alonso GT, et al. (2020). "Diabetic ketoacidosis at diagnosis of type 1 diabetes in Colorado children, 2010–2017." Diabetes Care 43(1):117–121. — DKA rates: 30–60% in unscreened, <5% in screened.
- Duca LM, et al. (2017). "Diabetic ketoacidosis at diagnosis of type 1 diabetes predicts poor long-term glycemic control." Diabetes Care 40(9):1249–1255. — Long-term consequences of DKA at diagnosis.
- Herold KC, et al. (2019). "An anti-CD3 antibody, teplizumab, in relatives at risk for type 1 diabetes." N Engl J Med 381(7):603–613. — Teplizumab delays T1D onset by ~32.5 months; FDA-approved for Stage 2 T1D (2022).
- Sharp SA, et al. (2019). "Development and standardization of an improved type 1 diabetes genetic risk score for use in newborn screening and incident diagnosis." Diabetes Care 42(2):200–207. — GRS2 model: AUC 0.92.
- Winkler C, et al. (2016). "A type 1 diabetes genetic risk score can aid discrimination between type 1 and type 2 diabetes in young adults." Diabetes Care 39(3):330–332. — GRS1 model: AUC 0.88–0.92.
- Sims EK, et al. (2022). "Screening for type 1 diabetes in the general population: a status report and perspective." Diabetes 71(4):610–623. — Reviews CASCADE, PLEDGE, PRiMeD programs; two-step screening model (genetics → autoantibodies).
- Martin AR, et al. (2017). "Human demographic history impacts genetic risk prediction across diverse populations." Am J Hum Genet 100(4):635–649. — PRS performance varies by ancestry; importance of diverse training cohorts.
Copy link
T1D scout
October 16, 2023
Copy Link
%20(1).jpg)
