CDC STACKS serves as an archival repository of CDC-published products including scientific findings, journal articles, guidelines, recommendations, or other public health information authored or co-authored by CDC or funded partners.
As a repository, CDC STACKS retains documents in their original published format to ensure public access to scientific information.
i
Challenges and opportunities for integrating genetic testing into a diagnostic workflow: heritable long QT syndrome as a model
-
2 23 2021
-
-
Source: Diagnosis (Berl). 8(1):17-26
[PDF-498.60 KB]
Details:
-
Alternative Title:Diagnosis (Berl)
-
Personal Author:
-
Description:Background:
An increasing number of diagnostic evaluations incorporate genetic testing to facilitate accurate and timely diagnoses. The increasing number and complexity of genetic tests continue to pose challenges in deciding when to test, selecting the correct test(s), and using results to inform medical diagnoses, especially for medical professionals lacking genetic expertise. Careful consideration of a diagnostic workflow can be helpful in understanding the appropriate uses of genetic testing within a broader diagnostic workup.
Content:
The diagnosis of long QT syndrome (LQTS), a life-threatening cardiac arrhythmia, provides an example for this approach. Electrocardiography is the preferred means for diagnosing LQTS but can be uninformative for some patients due to the variable presentation of the condition. Family history and genetic testing can augment physiological testing to inform a diagnosis and subsequent therapy. Clinical and laboratory professionals informed by peer- reviewed literature and professional recommendations constructed a generalized LQTS diagnostic workflow. This workflow served to explore decisions regarding the use of genetic testing for diagnosing LQTS.
Summary and outlook:
Understanding the complexities and approaches to integrating genetic testing into a broader diagnostic evaluation is anticipated to support appropriate test utilization, optimize diagnostic evaluation, and facilitate a multidisciplinary approach essential for achieving accurate and timely diagnoses.
-
Keywords:
-
Source:
-
Pubmed ID:31287796
-
Pubmed Central ID:PMC7015124
-
Document Type:
-
Funding:
-
Volume:8
-
Issue:1
-
Collection(s):
-
Main Document Checksum:
-
Download URL:
-
File Type:
