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This is especially the case in the asymptomatic, with perilous consequences, not only for the index case, but also for the entire family. First of all, concerns are related to labeling. Transforming an ostensibly healthy individual into a patient based on a genetic result, can give rise to unnecessary treatments, such as implantation of an implantable cardiac defibrillator, with associated adverse events, e.
In order to reach concordance between expert laboratories, efforts on securing that all clinical laboratories have access to the most extensive variant and phenotype information available are warranted. Also, improved guidelines in interpreting and classifying a genetic result are vital. Concerns regarding the latest recommendations by ACMG have been raised in a recent report by Amendola et al.
However, when the laboratories were asked to classify the variants applying the most recent ACMG criteria, their concordance level did not increase. The aim is not simply to agree with one another in our classification and methods, but also to ensure that our classifications are correct and will hold over time.
One of the main reasons to inconsistency between laboratories when interpreting variants has been reliance on unpublished internal data. Different information on variants between laboratories will unavoidably lead to different interpretation. Individual and not necessarily clinical laboratories should be encouraged to share unpublished data by depositing it to public repositories, such as ClinVar. Also uniform access to the most recent information on sequenced data is needed, in order to avoid differences in classification and need for reassessment over short periods of time.
A database is in principle just a large collection of related or separate data, systematically stored in a computer. It should be possible for the data to be easily . Provides rapid, easy-to-use access to important official guidelines developed by leading Canadian medical associations and societies, and.
This is particularly important for genes whose role in disease is newly established where data on functional and clinical consequence accumulate rapidly. Regions such as the Middle East, South Asia as well as Western Africa are poorly genetically characterized, and remain an important issue in contemporary genetic medicine.
Clinical genetic testing is rapidly evolving, and generates an unprecedented amount of sequence variation to be interpreted and in a larger variety of genes than we have sequenced in the past. Despite the increase of data available, variant interpretation remains an important task in modern genetics, and better methods are warranted. Large publicly available reference databases have provided important insight into the location and nature of genetic variation, which in turn has improved variant interpretation and classification.
Also, continuous efforts in sharing of data between laboratories, researchers, and clinicians will indubitably prove paramount in future variant classification. In combination with our rapidly growing understanding of the human genome, these efforts will indubitably improve our ability to make rational use of genomics in medical care. Table S1. List of variants previously associated with long QT syndrome, and present in the Exome Aggregation Consortium database.
Table S2. Variants identified in the Exome Aggregation Consortium database, and evaluated using the American College of Medical Genetics and Genomics guidelines in variant interpretation. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries other than missing content should be directed to the corresponding author for the article. Volume 93 , Issue 3. The full text of this article hosted at iucr. If you do not receive an email within 10 minutes, your email address may not be registered, and you may need to create a new Wiley Online Library account.
If the address matches an existing account you will receive an email with instructions to retrieve your username. Clinical Genetics Volume 93, Issue 3. Olesen Corresponding Author E-mail address: morten.
Tools Request permission Export citation Add to favorites Track citation. Share Give access Share full text access. Share full text access. Please review our Terms and Conditions of Use and check box below to share full-text version of article. Abstract Advances in clinical genetic testing have led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation.
A genetic result ought to be analyzed in a probabilistic manner. Variants identified through genetic testing are generally categorized as benign, likely benign, variants of unknown significance, likely pathogenic, or pathogenic. Figure 2 Open in figure viewer PowerPoint. Each dot represents a distinct variant.
AF, allele frequency.
Quality Improvement in Cardiac Care. News ECG January 08, Circulation: Cardiovascular Interventions 8 3 ; e Even more importantly, increased access to a comprehensive clinical record is helping diagnosticians and clinicians make better and timelier treatment decisions. Although this is reportedly a voluntary reporting system, there is considerable external pressure to join since it is publicly reported and those that do not volunteer are publicly listed as nonparticipants. Using the logistic regression method developed by the Collaborative Study in Coronary Artery Surgery investigators, under the direction of Karl E.
Conflict of interest Nothing to declare. Genetic testing for inherited cardiac disease.
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