کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5959550 | 1175809 | 2015 | 20 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue
ترجمه فارسی عنوان
خالص سازی ژنتیکی و کانالوپاتی های قلبی: در معرض انواعی از موضوع مهم / نامعلوم است
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کلمات کلیدی
WESACMGCPVTLQTSChannelopathiesBRSVUS - SUVGenetic testing - آزمایش ژنتیک ECG - الکتروکاردیوگرام یا نوار قلبelectrocardiogram - الکتروکاردیوگرام یا نوار قلبCatecholaminergic polymorphic ventricular tachycardia - تاکیکاردی بطنی پلی مورفید CatecholaminergicWhole exome sequencing - توالی کامل exomeICD - دفیبریلاتورهای کاردیوورتر کاشتنیLong QT syndrome - سندرم QT طولانیBrugada syndrome - سندرم بروگاداImplantable cardioverter-defibrillator - کاردیوورتر-دفیبریلاتور قابل کاشتAmerican College of Medical Genetics - کالج ژنتیک پزشکی آمریکاIon channels - کانال های یونی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
کاردیولوژی و پزشکی قلب و عروق
چکیده انگلیسی
Merriam-Webster's online dictionary defines purgatory as “an intermediate state after death for expiatory purification” or more specifically as “a place or state of punishment wherein according to Roman Catholic doctrine the souls of those who die in God׳s grace may make satisfaction for past sins and so become fit for heaven.” Alternatively, it is defined as “a place or state of temporary suffering or misery.” Either way, purgatory is a place where you are stuck, and you don't want to be stuck there. It is in this context that the term genetic purgatory is introduced. Genetic purgatory is a place where the genetic test-ordering physician and patients and their families are stuck when a variant of uncertain/unknown significance (VUS) has been elucidated. It is in this dark place where suffering and misery are occurring because of unenlightened handling of a VUS, which includes using the VUS for predictive genetic testing and making radical treatment recommendations based on the presence or absence of a so-called maybe mutation. Before one can escape from this miserable place, one must first recognize that one is stuck there. Hence, the purpose of this review article is to fully expose the VUS issue as it relates to the cardiac channelopathies and make the cardiologists/geneticists/genetic counselors who order such genetic tests believers in genetic purgatory. Only then can one meaningfully attempt to get out of that place and seek to promote a VUS to disease-causative mutation status or demote it to an utterly innocuous and irrelevant variant.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Heart Rhythm - Volume 12, Issue 11, November 2015, Pages 2325-2331
Journal: Heart Rhythm - Volume 12, Issue 11, November 2015, Pages 2325-2331
نویسندگان
Michael J. MD, PhD,