| Literature DB >> 28471436 |
Shobana Kubendran1, Siddharthan Sivamurthy1, Gerald Bradley Schaefer1.
Abstract
PurposeOur aim was to improve access to genetic services in an underserved region by developing a collaborative telegenetic service delivery model with a pediatrician, medical geneticist, and genetics counselor (GC).MethodsProtocols for the evaluation of common genetic indications were developed. Patients referred with indications suggestive of a syndromic etiology were scheduled to see the geneticist directly via telegenetics. Other patients were scheduled to see the pediatrician and GC in person before follow-up with the geneticist if indicated. Patients seen by the geneticist and/or pediatrician/GC were enumerated and the next available appointment was tracked. Patient satisfaction surveys were conducted.ResultsOf the 265 patients evaluated during the study period, 116 (44%) were evaluated by a pediatrician and GC in person first, after which 82 (71% of those evaluated) required further follow-up with the geneticist. The next available appointment with a pediatrician and GC never exceeded 6 weeks, while new appointments with a geneticist ranged from 3 to 9 months. All patients reported high satisfaction with this genetic service model.ConclusionThe pediatrician/GC clinic provides a model of collaborative care that is a medical home neighbor and exemplifies the integration of genetics into primary care. The telegenetics clinic offers a viable solution to providing competent and convenient access to a geneticist for patients in chronically underserved regions.Entities:
Mesh:
Year: 2017 PMID: 28471436 PMCID: PMC5682570 DOI: 10.1038/gim.2017.45
Source DB: PubMed Journal: Genet Med ISSN: 1098-3600 Impact factor: 8.822
Figure 1Overlapping and complimentary roles of the pediatrician, genetic counselor and geneticist in the telegenetics clinic. Adapted with permission from Williamson L and LeBlanc DB, 2008.[28]
Protocols for genetic testing
| Indication | Primary genetic testing |
|---|---|
| Global developmental delay | Microarray and/or fragile X[ |
| Global developmental delay with hypotonia and features that could overlap with Prader–Willi syndrome | Microarray and methylation analysis[ |
| Global developmental delay with features that could overlap with Angelman syndrome | Microarray and methylation analysis, |
| Multiple anomalies not specific to a well-delineated syndrome | Microarray[ |
| Autism | Microarray and/or fragile X, |
| Nonsyndromic hearing loss | |
| Connective-tissue disorder with features that are suggestive of Marfan syndrome | |
| Neurofibromatosis type 1 |
In select cases where features are characteristic of Angelman syndrome and if 15 methylation analysis is negative, use UBE3A sequencing or the Rett−Angelman syndrome panel.
If features are suggestive of overlapping connective-tissue disorders, use the Marfan−TAAD panel.
Use if patient is in early childhood and does not fulfill diagnostic criteria for neurofibromatosis.
Figure 2Referral and follow up flow chart.
Results of the survey on appointments with the pediatrician and genetic counselor, n (%)
| Indicate how much you agree with each of the following statements | Strongly disagree | Disagree | Agree | Strongly agree |
|---|---|---|---|---|
| The information I received before the visit helped me understand what was going to happen | 2 (7) | 3 (11) | 10 (37) | 12 (44) |
| Before we started, each person introduced themselves and described their role | 0 (0) | 0 (0) | 4 (14) | 25 (86) |
| The pediatrician and genetic counselor listened and respected the information I provided | 0 (0) | 0 (0) | 3 (10) | 27 (90) |
| The pediatrician and genetic counselor responded to all of my questions | 0 (0) | 0 (0) | 6 (20) | 24 (80) |
| Privacy of information about my child and my family was protected | 0 (0) | 0 (0) | 6 (20) | 24 (80) |
| I feel confident in the quality of the care provided today | 0 (0) | 0 (0) | 5 (17) | 25 (83) |
| I feel confident in the recommendations from today’s visit | 0 (0) | 0 (0) | 7 (23) | 23 (77) |
| I would recommend the genetics clinic to other families | 0 (0) | 0 (0) | 7 (24) | 22 (76) |
| Overall, I was satisfied with the visit today | 0 (0) | 0 (0) | 7 (24) | 22 (76) |
All data are number (%).
Three parents reported “Not applicable.”
One parent did not respond.
Results of the survey about telegenetics appointments with the geneticist, n (%)
| Indicate how much you agree with each of the following statements | Strongly disagree | Disagree | Agree | Strongly agree |
|---|---|---|---|---|
| The information I received before the visit helped me understand what was going to happen[ | 0 (0) | 0 (0) | 33 (51) | 32 (49) |
| The equipment worked well | 0 (0) | 1 (1) | 13 (18) | 57 (80) |
| Before we started, each person introduced themselves and described their role | 0 (0) | 0 (0) | 13 (18) | 58 (82) |
| The use of technology did not get in the way with being able to have a good conversation with the specialist | 0 (0) | 1 (1) | 14 (20) | 56 (79) |
| The specialist listened and respected the information I provided | 0 (0) | 0 (0) | 12 (17) | 59 (83) |
| The specialist responded to all of my questions | 0 (0) | 0 (0) | 12 (17) | 59 (83) |
| Privacy of information about my child and my family was protected | 0 (0) | 0 (0) | 15 (21) | 56 (79) |
| I feel confident in the quality of the care provided today | 0 (0) | 1 (1) | 14 (20) | 56 (79) |
| I feel confident in the recommendations from today’s telemedicine visit | 0 (0) | 0 (0) | 13 (18) | 58 (82) |
| I would recommend telemedicine to other families | 0 (0) | 0 (0) | 14 (20) | 57 (80) |
| Overall, I was satisfied with the visit today | 0 (0) | 0 (0) | 15 (21) | 56 (79) |
| Despite the obstacles to receiving care in person, I would still prefer to travel to see the specialist | 17 (25) | 29 (43) | 12 (18) | 9 (13) |
One parent reported “Not applicable.”
Five parents did not respond.
Four parents did not respond.