Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Setting
2.2. Genetic Counseling Procedures
2.3. Implementation Strategies
2.4. Identification of At-Risk Relatives
2.5. Study Follow-Up Timepoints
2.6. Outcomes
2.6.1. Proband Demographics and GC Completion
2.6.2. Proband Medical Behaviors and Outcomes
2.6.3. Family Communication Choice
2.6.4. Cascade Testing Uptake
2.6.5. Direct Contact
2.7. Statistical Analysis
3. Results
3.1. Proband Demographics and GC Completion
3.2. Proband Medical Behaviors and Outcomes
3.3. Family Communication Choice
3.3.1. First-Degree Relatives
3.3.2. All Relatives
3.4. Cascade Testing Uptake
3.4.1. First-Degree Relatives
3.4.2. All Relatives
3.4.3. Minors
3.5. Direct Contact
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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IMPACT-FH Probands with GC (n = 81) | IMPACT-FH Probands without GC (n = 94) | p-Value | |
---|---|---|---|
Vital Status, n (%) | 0.6499 1 | ||
Alive | 80 (98.8%) | 92 (97.9%) | |
Deceased | 1 (1.2%) | 2 (2.1%) | |
Proband Minimized Contact, n, (%) | 0.0205 1 | ||
No | 78 (96.3%) | 81 (86.2%) | |
Yes | 3 (3.7%) | 13 (13.8%) | |
Age at FH Result Disclosure | 0.0935 2 | ||
Median (IQR) | 55.1 (43.0, 68.4) | 61.8 (45.5, 70.7) | |
Range | 21.9, 86.4 | 21.1, 89.0 | |
Sex, n (%) | 0.4737 1 | ||
Male | 31 (38.3%) | 41 (43.6%) | |
Female | 50 (61.7%) | 53 (56.4%) | |
Number of FDRs | 0.4870 2 | ||
Median (IQR) | 4.0 (3.0, 5.0) | 4.0 (3.0, 5.0) | |
Range | 0.0, 13.0 | 0.0, 13.0 | |
Total Number of Relatives | <0.0001 2 | ||
Median (IQR) | 16.0 (12.0, 24.0) | 5.0 (3.0, 5.0) | |
Range | 2.0, 43.0 | 1.0, 17.0 | |
Race, n (%) | 0.2317 1 | ||
White | 80 (98.8%) | 90 (95.7%) | |
Other 3 | 1 (1.2%) | 4 (4.3%) | |
Ethnicity, n (%) | 0.1048 1 | ||
Non-Hispanic or Latino | 81 (100.0%) | 91 (96.8%) | |
Other 4 | 0 (0.0%) | 3 (3.2%) | |
State, n (%) | 0.2317 1 | ||
Not PA | 1 (1.2%) | 4 (4.3%) | |
PA | 80 (98.8%) | 90 (95.7%) | |
Insurance Type, n (%) | 0.6954 1 | ||
No insurance | 2 (2.5%) | 3 (3.2%) | |
Private insurance only | 40 (49.4%) | 37 (39.4%) | |
Medicaid only | 7 (8.6%) | 11 (11.7%) | |
Medicare only | 4 (4.9%) | 4 (4.3%) | |
Private insurance and Medicaid | 3 (3.7%) | 1 (1.1%) | |
Private insurance and Medicare | 22 (27.2%) | 35 (37.2%) | |
Medicaid and Medicare | 1 (1.2%) | 2 (2.1%) | |
Medicare and Tricare/Military | 1 (1.2%) | 1 (1.1%) | |
Private insurance, Medicaid, and Medicare | 1 (1.2%) | 0 (0.0%) | |
Insurance Type (version 2), n (%) | 0.1926 1 | ||
Private insurance only | 40 (50.6%) | 37 (40.7%) | |
Medicare/Medicaid combinations | 39 (49.4%) | 54 (59.3%) | |
Missing | 2 | 3 | |
Current MyG User, n (%) | 0.0842 1 | ||
Yes | 71 (87.7%) | 73 (77.7%) | |
No | 10 (12.3%) | 21 (22.3%) | |
Gene, n (%) | 0.4951 1 | ||
APOB | 27 (33.3%) | 58 (61.7%) | |
LDLR | 54 (66.7%) | 36 (38.3%) |
Behavior or Outcome | Timepoint | Genetic Counseling Completed by Proband? | p-Value | ||
---|---|---|---|---|---|
Yes (n = 80) | No (n = 90) | ||||
Cardiology Appointment, n (%) | Pre-Disclosure (within 5 yr) | 34 (42.5%) | 36 (40.0%) | 0.7410 1 | |
Post- Disclosure | All Appointments | 57 (71.2%) | 22 (24.4%) | <0.0001 1 | |
New Appointments | 28 (35.0%) | 5 (5.6%) | <0.0001 1 | ||
Lipid Lowering Therapy, n (%) | Pre-Disclosure Prescriptions (within 1 yr) | 48 (60.0%) | 51 (56.7%) | 0.6600 1 | |
All Active Meds Post-Disclosure | 62 (77.5%) | 52 (57.8%) | 0.0063 1 | ||
Lipid Panel, n (%) | Pre-Disclosure (within 1 yr) | 47 (58.8%) | 52 (57.8%) | 0.8979 1 | |
Post-Disclosure | 66 (82.5%) | 53 (58.9%) | 0.0008 1 | ||
Average LDL-C Levels (mg/dL), n (%) | Pre-Disclosure | Median (IQR) | 124.0 (99.0, 153.0) | 122.0 (96.0, 152.5) | 0.6913 2 |
Missing | 4 | 10 | |||
Post- Disclosure | Median (IQR) | 100.0 (64.0, 128.0) | 118.0 (81.0, 150.0) | 0.0473 2 | |
Missing | 14 | 37 | |||
Change in LDL-C | Median (IQR) | −13.0 (−61.0, 4.0) | −1.0 (−16.0, 17.0) | 0.0054 2 | |
Missing | 17 | 39 | |||
Cardiovascular Event 3 | Pre-Disclosure | 15 (18.8%) | 26 (28.9%) | 0.1230 1 | |
Post- Disclosure | New Event | 7 (8.8%) | 3 (3.3%) | 0.1341 1 | |
Recurrent Event | 13 (16.2%) | 16 (17.8%) | 0.7915 1 |
First Degree Relatives: Proband Completed Genetic Counseling | Yes (n = 343) | No (n = 382) | Total (n = 725) | p-Value |
---|---|---|---|---|
Total FDRs with Strategy Selection | <0.0001 1 | |||
No strategy, n (%) | 119 (34.7%) | 228 (59.7%) | 347 (47.9%) | |
1+ strategy, n (%) | 224 (65.3%) | 154 (40.3%) | 378 (52.1%) | |
FDR with 1+ Strategy, per Proband | 0.0005 2 | |||
Probands, n | 64 | 53 | 117 | |
Mean (SD) | 3.6 (1.97) | 2.9 (1.44) | 3.3 (1.78) | |
Median (IQR) | 3.0 (2.0, 4.0) | 3.0 (2.0, 4.0) | 3.0 (2.0, 4.0) | |
Range | 1.0, 9.0 | 1.0, 7.0 | 1.0, 9.0 | |
Strategies Selected, per FDR | 0.0915 2 | |||
FDR with 1+ strategy selected, n | 224 | 154 | 378 | |
Mean (SD) | 1.3 (0.46) | 1.2 (0.41) | 1.2 (0.45) | |
Median (IQR) | 1.0 (1.0, 2.0) | 1.0 (1.0, 1.0) | 1.0 (1.0, 1.0) | |
Range | 1.0, 3.0 | 1.0, 3.0 | 1.0, 3.0 | |
Type of Strategy Selections, n, (%) | <0.0001 1 | |||
Packet Only | 118 (34.4%) | 115 (30.1%) | 233 (32.1%) | 0.2160 1 |
Chatbot Only | 38 (11.1%) | 8 (2.1%) | 46 (6.3%) | <0.0001 1 |
Direct Contact Only | 9 (2.6%) | 2 (0.5%) | 11 (1.5%) | 0.0209 1 |
Packet and Chatbot | 42 (12.2%) | 24 (6.3%) | 66 (9.1%) | 0.0053 1 |
Packet and Direct Contact | 9 (2.6%) | 2 (0.5%) | 11 (1.5%) | 0.0209 1 |
Chatbot and Direct Contact | 6 (1.8%) | 2 (0.5%) | 8 (1.1%) | 0.1585 3 |
Chatbot, Direct Contact, and Packet | 2 (0.6%) | 1 (0.3%) | 3 (0.4%) | 0.6054 3 |
All Relatives: Proband Completed Genetic Counseling | Yes (n = 1440) | No (n = 475) | Total (n = 1915) |
---|---|---|---|
Total Relatives with Strategy Selection | |||
No strategy, n (%) | 1073 (74.5%) | 301 (63.4%) | 1374 (71.8%) |
1+ strategy, n (%) | 367 (25.5%) | 174 (36.6%) | 541 (28.2%) |
Relatives with 1+ Strategy, per Proband | |||
Probands, n | 65 | 56 | 121 |
Mean (SD) | 5.9 (5.37) | 3.1 (1.58) | 4.6 (4.29) |
Median (IQR) | 5.0 (3.0, 6.0) | 3.0 (2.0, 4.0) | 4.0 (2.0, 5.0) |
Range | 1.0, 32.0 | 1.0, 7.0 | 1.0, 32.0 |
Strategies Selected, per Relative | |||
Relatives with 1+ strategy selected, n | 367 | 174 | 541 |
Mean (SD) | 1.2 (0.44) | 1.2 (0.42) | 1.2 (0.44) |
Median (IQR) | 1.0 (1.0, 1.0) | 1.0 (1.0, 1.0) | 1.0 (1.0, 1.0) |
Range | 1.0, 3.0 | 1.0, 3.0 | 1.0, 3.0 |
Type of Strategy Selections, n, (%) | |||
Packet Only | 193 (13.4%) | 125 (26.3%) | 318 (16.6%) |
Chatbot Only | 73 (5.1%) | 12 (2.5%) | 85 (4.4%) |
Direct Contact Only | 18 (1.2%) | 2 (0.4%) | 20 (1.0%) |
Packet and Chatbot | 61 (4.2%) | 30 (6.3%) | 91 (4.8%) |
Packet and Direct Contact | 13 (0.9%) | 2 (0.4%) | 15 (0.8%) |
Chatbot and Direct Contact | 6 (0.4%) | 2 (0.4%) | 8 (0.4%) |
Chatbot, Direct Contact, and Packet | 3 (0.2%) | 1 (0.2%) | 4 (0.2%) |
First Degree Relatives: Proband Completed Genetic Counseling | Yes (n = 343) | No (n = 382) | Total (n = 725) | Incidence Rate Ratio (95% CI) | p-Value |
---|---|---|---|---|---|
Cascade Testing Uptake, n (%) | 2.25 (1.29, 3.93) | 0.0043 1 | |||
Cascade testing completed | 93 (27.1%) | 46 (12.0%) | 139 (19.2%) | ||
Cascade testing not completed | 250 (72.9%) | 336 (88.0%) | 586 (80.8%) | ||
Genetic Testing Completed Only, n (%) | 4.45 (1.51, 13.10) | 0.0066 1 | |||
Yes | 24 (7.0%) | 6 (1.6%) | 30 (4.1%) | ||
No | 319 (93.0%) | 376 (98.4%) | 695 (95.9%) | ||
Lipid Testing Completed Only, n (%) | 1.61 (0.82, 3.14) | 0.1634 1 | |||
Yes | 52 (15.2%) | 36 (9.4%) | 88 (12.1%) | ||
No | 291 (84.8%) | 346 (90.6%) | 637 (87.9%) | ||
Both Genetic and Lipid Testing Completed, n (%) | 4.73 (0.88, 25.36) | 0.0695 1 | |||
Yes | 17 (5.0%) | 4 (1.0%) | 21 (2.9%) | ||
No | 326 (95.0%) | 378 (99.0%) | 704 (97.1%) |
All Relatives: Proband Completed Genetic Counseling | Yes (n = 1440) | No (n = 475) | Total (n = 1915) |
---|---|---|---|
Cascade Testing Uptake, n (%) | |||
Cascade testing completed | 123 (8.5%) | 54 (11.4%) | 177 (9.2%) |
Cascade testing not completed | 1317 (91.5%) | 421 (88.6%) | 1738 (90.8%) |
Genetic Testing Completed Only, n (%) | |||
Yes | 39 (2.7%) | 9 (1.9%) | 48 (2.5%) |
No | 1401 (97.3%) | 466 (98.1%) | 1867 (97.5%) |
Lipid Testing Completed Only, n (%) | |||
Yes | 65 (4.5%) | 40 (8.4%) | 105 (5.5%) |
No | 1375 (95.5%) | 435 (91.6%) | 1810 (94.5%) |
Both Genetic and Lipid Testing Completed, n (%) | |||
Yes | 19 (1.3%) | 5 (1.1%) | 24 (1.3%) |
No | 1421 (98.7%) | 470 (98.9%) | 1891 (98.7%) |
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Morgan, K.M.; Campbell-Salome, G.; Walters, N.L.; Betts, M.N.; Brangan, A.; Johns, A.; Kirchner, H.L.; Lindsey-Mills, Z.; McGowan, M.P.; Tricou, E.P.; et al. Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling. J. Pers. Med. 2024, 14, 841. https://doi.org/10.3390/jpm14080841
Morgan KM, Campbell-Salome G, Walters NL, Betts MN, Brangan A, Johns A, Kirchner HL, Lindsey-Mills Z, McGowan MP, Tricou EP, et al. Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling. Journal of Personalized Medicine. 2024; 14(8):841. https://doi.org/10.3390/jpm14080841
Chicago/Turabian StyleMorgan, Kelly M., Gemme Campbell-Salome, Nicole L. Walters, Megan N. Betts, Andrew Brangan, Alicia Johns, H. Lester Kirchner, Zoe Lindsey-Mills, Mary P. McGowan, Eric P. Tricou, and et al. 2024. "Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling" Journal of Personalized Medicine 14, no. 8: 841. https://doi.org/10.3390/jpm14080841