- Project Description
- Clinic
Demographics
- Heatmap of Patient Addresses
- Basic Demographics
- Patient Ages, by Sex
- Significant Differences Between Demographics
- Indications for Visits
- Indications for Visits over Time
- Patient Age, by Indication
- Patient Sex, by Indication
- Patient Race, by Indication
- Visit Type, by Indication
- Visit Type, Over Time
- Circulos Plot of Indications
- Granular Plots of Visit Indications, by Indication Group
- Testing Practices
- Testing Results
- WES/WGS Analysis
MedGenOutcomes 2025
T. Drivas • June 23, 2025
Project Description
Project:
Little is known regarding the outcomes of and barriers to medical genetics evaluation and genetic testing in the adult patient population. This is a retrospective study of over 8,000 patient visits to the University of Pennsylvania Health System’s Adult Medical Genetics clinic from October 1, 2016 to October 1, 2024. This study was conducted at the University of Pennsylvania and approved by the University of Pennsylvania’s Institutional Review Board (protocol number 850058).
Authors:
Stephanie Asher, Zoe Bogus, Teresa Chai, Stacey Cohen, Courtney Condit, Yehuda Elkaim, Isaac F. Elysee, Brielle Gehringer, Jessica Gold, Shannon M. Gray, Laura Hennessy, Emma Kennedy, Anna Raper, Ala Streater, Staci Kallish, Katherine L. Nathanson, Mersedeh Rohanizadegan, and Theodore G. Drivas
Manuscript:
Click here for the google doc to collaboratively work on the manuscript
Clinic Demographics
Heatmap of Patient Addresses
Basic Demographics
Patient Ages, by Sex
Significant Differences Between Demographics
Demographic Differences by Age
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| Variable | Level | n | Mean_Age | Median_Age | Test | p.value | Significant |
|---|---|---|---|---|---|---|---|
| Gender | Kruskal-Wallis | 0.149 | No | ||||
| - Female | 5656 | 41.7 | 39 | ||||
| - Male | 3724 | 42.4 | 40 | ||||
| Race (collapsed) | Kruskal-Wallis | 1.55e-26 | Yes | ||||
| - American Indian or Alaskan Native | 18 | 31.4 | 31 | ||||
| - Asian | 270 | 40.6 | 40.2 | ||||
| - Black or African American | 705 | 42.7 | 41 | ||||
| - Hispanic or Latino of any race | 328 | 35.7 | 32.5 | ||||
| - Native Hawaiian or Other Pacific Islander | 6 | 42.2 | 45.5 | ||||
| - Unknown/Other | 1008 | 37.9 | 35.3 | ||||
| - White | 7045 | 42.9 | 40 | ||||
| Insurance Class | Kruskal-Wallis | 0 | Yes | ||||
| - Commercial | 7067 | 39 | 37 | ||||
| - Medicaid | 808 | 33.4 | 32 | ||||
| - Medicare | 1396 | 61.9 | 67 | ||||
| - Other | 21 | 35.2 | 37 | ||||
| - Self-Pay | 88 | 41.7 | 39 | ||||
| Visit Type | Kruskal-Wallis | 0.0596 | No | ||||
| - Follow up | 1949 | 42.7 | 39.7 | ||||
| - New | 7431 | 41.8 | 39 |
Demographic Differences Significant Confounding
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## some| Outcome | Predictor | Test | Statistic | p.value | Significant | |
|---|---|---|---|---|---|---|
| GENDER…1 | Age | Gender | F | 0.00 | 4.10e-02 | Yes |
| VISIT_TYPE…2 | Age | Visit Type | F | 0.00 | 0.00e+00 | Yes |
| INDICATION…3 | Age | Indication | F | 0.00 | 0.00e+00 | Yes |
| RACE…4 | Age | Race | F | 0.00 | 0.00e+00 | Yes |
| INSURANCE_CLASS…5 | Age | Insurance Class | F | 0.00 | 0.00e+00 | Yes |
| Residuals | Age | NA | F | 0.00 | NA | NA |
| VISIT_AGE…7 | Gender | Age | Wald Chi-sq | 4.16 | 4.14e-02 | Yes |
| VISIT_TYPE…8 | Gender | Visit Type | Wald Chi-sq | 6.05 | 1.39e-02 | Yes |
| INDICATION…9 | Gender | Indication | Wald Chi-sq | 383.62 | 0.00e+00 | Yes |
| RACE…10 | Gender | Race | Wald Chi-sq | 8.76 | 1.88e-01 | No |
| INSURANCE_CLASS…11 | Gender | Insurance Class | Wald Chi-sq | 4.34 | 3.62e-01 | No |
| VISIT_AGE…12 | Visit Type | Age | Wald Chi-sq | 76.86 | 0.00e+00 | Yes |
| GENDER…13 | Visit Type | Gender | Wald Chi-sq | 6.09 | 1.36e-02 | Yes |
| INDICATION…14 | Visit Type | Indication | Wald Chi-sq | 1130.63 | 0.00e+00 | Yes |
| RACE…15 | Visit Type | Race | Wald Chi-sq | 31.01 | 2.53e-05 | Yes |
| INSURANCE_CLASS…16 | Visit Type | Insurance Class | Wald Chi-sq | 38.49 | 1.00e-07 | Yes |
| VISIT_AGE…17 | Indication | Age | LR Chi-sq | 881.56 | 0.00e+00 | Yes |
| GENDER…18 | Indication | Gender | LR Chi-sq | 483.56 | 0.00e+00 | Yes |
| VISIT_TYPE…19 | Indication | Visit Type | LR Chi-sq | 1557.65 | 0.00e+00 | Yes |
| RACE…20 | Indication | Race | LR Chi-sq | 363.47 | 0.00e+00 | Yes |
| INSURANCE_CLASS…21 | Indication | Insurance Class | LR Chi-sq | 313.41 | 0.00e+00 | Yes |
| VISIT_AGE…22 | Race | Age | LR Chi-sq | 75.65 | 0.00e+00 | Yes |
| GENDER…23 | Race | Gender | LR Chi-sq | 8.12 | 2.29e-01 | No |
| VISIT_TYPE…24 | Race | Visit Type | LR Chi-sq | 29.59 | 4.70e-05 | Yes |
| INDICATION…25 | Race | Indication | LR Chi-sq | 370.53 | 0.00e+00 | Yes |
| INSURANCE_CLASS…26 | Race | Insurance Class | LR Chi-sq | 534.29 | 0.00e+00 | Yes |
| VISIT_AGE…27 | Insurance Class | Age | LR Chi-sq | 2632.61 | 0.00e+00 | Yes |
| GENDER…28 | Insurance Class | Gender | LR Chi-sq | 6.65 | 1.56e-01 | No |
| VISIT_TYPE…29 | Insurance Class | Visit Type | LR Chi-sq | 33.49 | 9.00e-07 | Yes |
| INDICATION…30 | Insurance Class | Indication | LR Chi-sq | 355.59 | 0.00e+00 | Yes |
| RACE…31 | Insurance Class | Race | LR Chi-sq | 548.22 | 0.00e+00 | Yes |
Indications for Visits
Indications for Visits over Time
Stats on indications over time
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Patient Age, by Indication
Statistical Analysis of Patient Age Differences, by Indication
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Statistical Analysis of Patient Age Differences, by Indication, with Covariates
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Patient Sex, by Indication
Statistical Analysis of Patient Sex Differences, by Indication
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Statistical Analysis of Patient Sex Differences, by Indication, with Covariates
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Patient Race, by Indication
Statistical Analysis of Patient Race Differences, by Indication
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Statistical Analysis of Patient Race Differences, by Indication, Residuals
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if (file.exists("stacked_corrplot.png")) knitr::include_graphics("stacked_corrplot.png")
Statistical Analysis of Patient Race Differences, by Indication, with Covariates, excluding some races
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Visit Type, by Indication
Statistical Analysis of Visit Type, by Indication
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Statistical Analysis of Visit Type, by Indication, Covariate adjusted
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Visit Type, Over Time
Circulos Plot of Indications
Granular Plots of Visit Indications, by Indication Group
Bar Plots
Cancer
Multisystem
Metabolic
Immune/hematologic disorder
