Appropriate Use of Genetic Testing in Congenital Heart Disease Patients

Ito, Seiji; Kisling, Monisha S.; John, Anitha S.

doi:10.1007/s11886-017-0834-1

Cited by 17 publications

(15 citation statements)

References 24 publications

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“…One of the many considerations for a patient with CHD is the etiology of their malformation and genetic assessment of CHD is becoming more emphasized in the care of these patients . Participation of a medical geneticist in care for individuals with CHD has been repeatedly recommended and shown to be beneficial for patients with CHD of all ages in both inpatient and outpatient settings for improvement of patient care and improved resource utilization . It is well established that the presence of a genetic syndrome greatly affects outcomes and that genetic syndromes are often diagnosed later during follow up .…”

Section: Introductionmentioning

confidence: 99%

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease

Geddes

Syverson

Earing

2019

Congenital Heart Disease

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Objective 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. Patients 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. Outcome Measures 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. Results 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. Conclusion 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.

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Section: Introductionmentioning

confidence: 99%

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease

Geddes

Syverson

Earing

2019

Congenital Heart Disease

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“…In neonates and young infants, it can be difficult to appreciate dysmorphic features, cognitive delays and extracardiac anomalies. Testing should be considered for these patients if they have a type of CHD that is frequently associated with genetic syndromes including TOF, IAA, truncus arteriosus and left‐sided obstructive lesions, even in the absence of other features (Ito, Chapman, Kisling, & John, ). For fetuses diagnosed with CHD, there is a higher chance of identifying genetic abnormalities.…”

Section: Recommendations For Clinical Genetic Testingmentioning

confidence: 99%

The genetics of isolated congenital heart disease

Nees

Chung

2019

American J of Med Genetics Pt C

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The genetic mechanisms underlying congenital heart disease (CHD) are complex and remain incompletely understood. The majority of patients with CHD have an isolated heart defect without other organ system involvement, but the genetic basis of isolated CHD has been even more difficult to elucidate compared to syndromic CHD. Our understanding of the genetics of isolated CHD is advancing in large part due to advances in next generation sequencing, and the list of genes associated with CHD is rapidly expanding. Variants in hundreds of genes have been identified that may cause or contribute to CHD, but a genetic cause can still only be identified in about 20–30% of patients. Identifying a genetic cause for CHD can have an impact on clinical outcomes and prognosis and thus it is important for clinicians to understand when and what to test in patients with isolated CHD. This chapter reviews some of the known genetic mechanisms that contribute to isolated inherited and sporadic CHD as well as recommendations for evaluation and genetic testing in patients with isolated CHD.

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“…An accurate genetic evaluation and diagnosis in individuals and families affected by CHD is important for the following reasons: (a) guidance of medical, surgical and palliative management, (b) early evaluation of anomalies of other organs and neurodevelopmental disabilities, (c) a better understanding of prognosis, (d) identification and testing of at‐risk relatives, (e) estimation of recurrence risk for future pregnancies, and (f) enabling preimplantation and prenatal diagnosis, which will become more relevant due to increased survival of CHD patients to childbearing age (Ito, Chapman, Kisling, & John, ; Ntiloudi et al, ).…”

Section: Approach To Genetic Testingmentioning

confidence: 99%

“…Also, it is important to remember that the implications of the results in the familial cases go beyond the proband and may affect other family members. Likewise, the risk recurrence must be carefully considered for future pregnancies (Ito et al, ). New technologies create a growing amount of data that is challenging to handle and interpret.…”

Section: Genetic Counselingmentioning

confidence: 99%

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The genetic workup for structural congenital heart disease

Jerves

Beaton

Kruszka

2019

American J of Med Genetics Pt C

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Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.

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Appropriate Use of Genetic Testing in Congenital Heart Disease Patients

Cited by 17 publications

References 24 publications

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease

The genetics of isolated congenital heart disease

The genetic workup for structural congenital heart disease

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