Current genetic medicine reports最新文献_第10页

Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues. 扩大妊娠cfDNA筛查的使用:当前和新出现的伦理、法律和社会问题

IF 2.1

Current genetic medicine reports Pub Date : 2017-03-01 Epub Date: 2017-02-11 DOI: 10.1007/s40142-017-0113-x

Lindsay Parham, Marsha Michie, Megan Allyse

{"title":"Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues.","authors":"Lindsay Parham, Marsha Michie, Megan Allyse","doi":"10.1007/s40142-017-0113-x","DOIUrl":"10.1007/s40142-017-0113-x","url":null,"abstract":"Purpose of review: In 2011, screening platforms became available in the US that detect and analyze fragments of cell-free placental DNA (cfDNA) in maternal blood serum. Marketed as noninvasive prenatal tests (NIPT), cfDNA screening is more accurate than previously available serum screening tests for certain aneuploidies. The combination of a noninvasive procedure, high specificity and sensitivity, and lower false positive rates for some aneuploidies (most notably Down's syndrome) has led to broad clinician and patient adoption. New ethical, legal, and social issues arise from the increased use and expanded implementation of cfDNA in pregnancy.Recent findings: Recently, several professional associations have amended their guidelines on cfDNA, removing language recommending its use in only \"high-risk\" pregnancies in favor of making cfDNA screening an available option for women with \"low-risk\" pregnancies as well. At the same time, commercial cfDNA screening laboratories continue to expand the range of available test panels. As a result, the future of prenatal screening will likely include a broader range of genetic tests in a wider range of patients.Summary: This article addresses the ethical, legal, and social issues related to the shift in guidance and expanded use of cfDNA in pregnant women, including concerns regarding routinized testing, an unmet and increasing demand for genetic counseling services, social and economic disparities in access, impact on groups living with disabling conditions, and provider liability.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"44-53"},"PeriodicalIF":2.1,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10715629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42214999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bioinformatics in the Identification of Novel Targets and Pathways in Neurodegenerative Diseases 生物信息学在神经退行性疾病新靶点和新途径鉴定中的应用

IF 2.1

Current genetic medicine reports Pub Date : 2017-02-18 DOI: 10.1007/s40142-017-0115-8

J. Paananen

引用次数: 1

Recent Progress in Functional Genomic Studies of Depression and Suicide 抑郁症与自杀的功能基因组研究进展

IF 2.1

Current genetic medicine reports Pub Date : 2017-02-16 DOI: 10.1007/s40142-017-0112-y

Daniel Almeida, G. Turecki

引用次数: 1

Editing the Genome: Prospects, Progress, Implications, and Cautions 编辑基因组：前景、进展、意义和注意事项

IF 2.1

Current genetic medicine reports Pub Date : 2017-01-19 DOI: 10.1007/s40142-017-0109-6

N. King, Pat C. Lord, Douglas E. Lemley

引用次数: 3

The Genetics of Intracranial Aneurysms 颅内动脉瘤的遗传学

IF 2.1

Current genetic medicine reports Pub Date : 2017-01-14 DOI: 10.1007/s40142-017-0111-z

A. Lindgren, A. Kurtelius, M. von Und Zu Fraunberg

引用次数: 1

Using Mendelian Randomization studies to Assess Causality and Identify New Therapeutic Targets in Cardiovascular Medicine. 利用孟德尔随机化研究评估心血管医学的因果关系并确定新的治疗靶点。

Current genetic medicine reports Pub Date : 2016-12-01 Epub Date: 2016-09-10 DOI: 10.1007/s40142-016-0103-4

Wei Zhao, Jung-Jin Lee, Asif Rasheed, Danish Saleheen

{"title":"Using Mendelian Randomization studies to Assess Causality and Identify New Therapeutic Targets in Cardiovascular Medicine.","authors":"Wei Zhao, Jung-Jin Lee, Asif Rasheed, Danish Saleheen","doi":"10.1007/s40142-016-0103-4","DOIUrl":"https://doi.org/10.1007/s40142-016-0103-4","url":null,"abstract":"Integration of knowledge generated from genetic studies on intermediate biomarkers and CHD can provide a reliable approach to help assess causal pathways in coronary heart disease. Mendelian Randomization (MR) studies are a powerful tool to assess causal relevance of a range of pathways. These analyses use genetic variants as proxies for soluble biomarkers in association studies of disease risk. MR studies can provide unbiased estimates of causal effects and avoid distortions due to confounding factors arising later in life, because genetic variants are fixed at conception. MR studies have provided evidence pointing towards the likelihood of a causal relevance of a range of pathways in CHD, including LDL-C, triglycerides, lipoprotein (a), and interleukin-6 receptor. On the other hand, MR studies have refuted the causal relevance of a number of biomarkers, including C-reactive protein (CRP), fibrinogen, uric acid, LpPLA2 activity, and homocysteine. Carefully conducted MR studies should overcome the limitations that are inherent to other observational studies (e.g., residual confounding and reverse causality) to help assess causal relevance of a range of pathways in CHD.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"4 4","pages":"207-212"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-016-0103-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35649149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Erratum to: MeCP2… Nature’s Wonder Protein or Medicine’s Most Feared One? MeCP2:自然界的神奇蛋白质还是医学上最可怕的蛋白质?

IF 2.1

Current genetic medicine reports Pub Date : 2016-11-05 DOI: 10.1007/s40142-016-0108-z

Rafael Claveria-Gimeno, O. Abián, A. Velázquez‐Campoy, J. Ausió

引用次数: 0

The Role of Mediator Complex Subunit 12 in Leiomyoma Biology 介质复合体亚基12在平滑肌瘤生物学中的作用

IF 2.1

Current genetic medicine reports Pub Date : 2016-10-26 DOI: 10.1007/s40142-016-0106-1

Priya Mittal, X. Wang, A. Rajkovic

引用次数: 0

MeCP2… Nature’s Wonder Protein or Medicine’s Most Feared One? MeCP2:大自然的奇迹蛋白质还是医学上最可怕的蛋白质?

IF 2.1

Current genetic medicine reports Pub Date : 2016-10-06 DOI: 10.1007/s40142-016-0107-0

Rafael Claveria-Gimeno, O. Abián, A. Velázquez‐Campoy, J. Ausió

引用次数: 3

Epigenetic Editing: On the Verge of Reprogramming Gene Expression at Will 表观遗传编辑:在基因表达重编程的边缘

IF 2.1

Current genetic medicine reports Pub Date : 2016-10-01 DOI: 10.1007/s40142-016-0104-3

David Cano-Rodriguez, M. Rots

引用次数: 48