@Article{chd.12817,
AUTHOR = {Gabrielle C. Geddes, Erin Syverson, Michael G. Earing},
TITLE = {Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {14},
YEAR = {2019},
NUMBER = {5},
PAGES = {832--837},
URL = {http://www.techscience.com/schd/v14n5/38854},
ISSN = {3071-1738},
ABSTRACT = {<b>Objective:</b> To describe the first 3 years of experience of having an inpatient “cardiogenetics” program which involves medical geneticist assessment of infants with 
major congenital heart disease (CHD) requiring surgical intervention in the first year 
of life.<br/>
<b>Patients:</b> Patients less than a year of age admitted to Children’s Hospital of Wisconsin’s 
Herma Heart Institute for surgical intervention for CHD seen by the cardiogenetics 
program. Patients with major trisomies (13, 18, and 21) were excluded.<br/>
<b>Outcome Measures:</b> Utilization and yield of genetic testing, and diagnostic rate were 
assessed as outcome measures and compared to a baseline time period and a genetic 
testing protocol time period.<br/>
<b>Results:</b> There were 201 infants with CHD evaluated by the cardiogenetics program 
over 3 years. A total of patients 46 patients of the 196 who underwent genetic testing had multiple tests completed. This is a significant decrease from the baseline 
(247/329, P < .0001) and from the genetic testing protocol (29/81, P < .0387) time 
periods. The diagnostic rate was 33% which is significantly increased compared to 
the baseline rate of 15% (80/524, P < .0001) and trends toward a significant increase 
during the testing protocol rate (25/113, P = .0520). The number of dual diagnosis increased to 9 of 201 compared to the baseline (2/524) and the genetic testing protocol 
(1/113) time periods. The rate of incidental diagnoses altering care increased to 6 of 
201 from the baseline (1/524) and the genetic testing protocol (1/113) time periods.<br/>
<b>Conclusion:</b> An inpatient cardiogenetics program significantly increases the diagnostic rate, the detection of complex phenotypes with dual diagnoses, the identification of incidental genetic diagnoses associated with changes in care, and significantly 
decreases the likelihood of multiple tests being completed on an individual patient. 
Increased medical geneticist involvement in programs that care for infants with CHD 
should be encouraged to improve patient care and genetic testing utilization.},
DOI = {10.1111/chd.12817}
}