Tag: genetic testing

1. Whole exome sequencing (WES) provided diagnosis for a subset of patients with chronic kidney disease (CKD). 2. Identification of certain mutations, via WES, changed the clinical management of CKD patients. Evidence Rating Level: 2 (Good) Study Rundown: Over the past 10 years, we have seen significant advances in genetics technology that...
1. This Mendelian randomized study found that a genetic predisposition to higher serum calcium levels was associated with an increased risk of coronary artery disease and myocardial infarction. 2. There was no evidence of pleiotropy or heterogeneity between the Mendelian randomization estimates from different single nucleotide polymorphisms in this study. Evidence...
1. Whole genome sequencing (WGS) in primary care reveals new genetic diseases. 2. Currently, the clinical utility of such findings and clinical actions to be taken is unclear in the primary setting. Evidence Rating Level: 1 (Excellent) Study Rundown: WGS, including exome and genome sequencing, is increasingly being used in healthcare for...
1. Next-generation metagenomics detected Human Hepegivirus-1 (HhpgV-1) in a cohort of patients who inject drugs. 2. The clinical significance of detecting HHpgB-1 infection is currently unclear. Evidence Rating Level: 2 (Good) Study Rundown: Next-generation metagenomic sequencing (NGMS) is a technique that involves the sequencing of all the DNA or RNA in a tissue,...
1. From a randomized trial, the disclosure of genetic risk information to those with increased risk of Alzheimer’s disease and coronary artery disease did not increase their anxiety or depression. 2. Disclosing genetic risk information was associated with positive lifestyle modifications, particularly in those who received information about coronary artery...
1. Fewer women were referred for genetic counseling and diagnostic testing after the introduction of non-invasive prenatal testing. 2. A third of abnormalities detected by chorionic villus sampling would not have been detected by non-invasive prenatal testing. Evidence Rating Level: 2 (Good)            Study Rundown: During pregnancy, women are offered genetic screening tests...
1. Direct to consumer genetic tests have increased in popularity due to technology, access, and affordable cost, and present both benefits and risks to the consumer.  2. In order to mitigate risks and still offer consumers the potential advantages direct to consumer genetic tests may provide, this source study suggests...
Feb 24 - The American Academy of Pediatrics (AAP) and American College of Medical Genetics and Genomics (ACMG) update recommendations for childhood genetic testing based on advances in genetic technology. Image: CC/SDietzel In a released statement:  The American Academy of Pediatrics (AAP) and American College of Medical Genetics and Genomics (ACMG) update...