Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses
Abstract
Craniosynostosis, a condition that includes the premature fusion of one or multiple cranial sutures, is a relatively common birth defect in humans and the second most common craniofacial anomaly after orofacial clefts. There is a significant clinical variation among different sutural synostoses as well as significant variation within any given single-suture synostosis. Craniosynostosis can be isolated (i.e., nonsyndromic) or occurs as part of a genetic syndrome (e.g., Crouzon, Pfeiffer, Apert, Muenke, and Saethre–Chotzen syndromes). Approximately 85 % of all cases of craniosynostosis are non...
Source: Current Genetic Medicine Reports - September 1, 2014 Category: Genetics & Stem Cells Source Type: research
New Innovations: Therapies for Genetic Conditions
Abstract
New, mechanistic understanding of genetic disease is prompting the rapid advancement of treatments for these diseases. Treatment strategies for monogenic hereditary disorders and complex genetic disorders are evolving with novel uses of traditional medications, targeted therapies for biochemical deficiencies including enzyme replacement, and pathology-targeted pharmacologic approaches to enhance normal function. There is also tangible progress in the development of nucleic acid-derived therapies, utilizing both DNA and RNA to modify gene expression and to correct a genetic disease process. Tech...
Source: Current Genetic Medicine Reports - September 1, 2014 Category: Genetics & Stem Cells Source Type: research
Incidental Finding in Copy Number Variation (CNV) Analysis
Abstract
When interrogating the human genome, the most significant finding at times might not even be the one related to the referring diagnosis. Such incidental findings (IFs) can pose challenges with regard to which results should be revealed? Such issues have begun to be addressed with the recent American College of Medical Genetics and Genomics (ACMG) recommendations for reporting IFs in clinical exome and genome sequencing; however, copy number variants (CNV) were not specifically addressed. The recommendations found that while some incidental CNV findings are currently of uncertain clinical signif...
Source: Current Genetic Medicine Reports - September 1, 2014 Category: Genetics & Stem Cells Source Type: research
CNVs in Epilepsy
Abstract
Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilitate studies of large cohorts of patients and controls to identify CNVs that cause increased risk for disease. Over the past 5 years, studies of patients with epilepsy confirm that both recurrent and non-recurrent CNVs are an important source of mutation for patients with various forms of epilepsy. Here, we will review the latest findings and explore the clin...
Source: Current Genetic Medicine Reports - September 1, 2014 Category: Genetics & Stem Cells Source Type: research
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
Abstract
One of the most fundamental goals of the study of human genetics was to determine the relationship between genomic variation and human disease. The effects of large-scale structural variation, such as aneuploidy and other cytogenetically visible imbalances, as well as sequence-level variation, have been studied for several decades. However, compared to these, the impact of submicroscopic copy number variants (CNV) has only recently been appreciated. Despite this, lessons learned from the study of CNVs have already proven significant and broadly applicable. From expanding the concept of normal h...
Source: Current Genetic Medicine Reports - September 1, 2014 Category: Genetics & Stem Cells Source Type: research
Ethical and Policy Issues in Genetic Prediction of Violence: Implications for Clinicians
Abstract
This paper reviews the ethical and policy issues raised by current biomedical research into violent behavior. Increasing awareness of the environmental mediation of genetic influence may not reduce the risks of social control and stigmatization. The review concludes that (1) public anxiety about mass killings and mental illness will increase pressure to detect individual biological features that predispose to crime. The pressure to find such individual differences may be even greater than it was in the 1990s, when more pervasive violent crime was easier to attribute to “shared environment.” F...
Source: Current Genetic Medicine Reports - August 23, 2014 Category: Genetics & Stem Cells Source Type: research
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Health Record
Abstract
Recent successes in the use of gene sequencing for patient care highlight the potential of genomic medicine. For genomics to become a part of usual care, pertinent elements of a patient’s genomic test must be communicated to the most appropriate care providers. Electronic health records may serve as a useful tool for storing and disseminating genomic data. Yet, the structure of existing EHRs and the nature of genomic data pose a number of pragmatic and ethical challenges in their integration. Through a review of the recent genome-EHR integration literature, we explore concrete examples of these...
Source: Current Genetic Medicine Reports - August 20, 2014 Category: Genetics & Stem Cells Source Type: research
Subtle Psychosocial Sequelae of Genetic Test Results
Abstract
Research using standard psychological measures has not revealed a dramatic psychological reaction to receipt of predictive genetic test results. Qualitative research, however, indicates that there are subtle psychosocial sequelae of receiving such results that should be considered by individuals and their clinicians prior to testing. Among these more subtle, but burdensome sequelae of testing are (i) changed social relationships (including relationships with clinicians), (ii) the impact of test results on important life decisions (e.g., career and reproductive choices), and (iii) altered self-con...
Source: Current Genetic Medicine Reports - August 20, 2014 Category: Genetics & Stem Cells Source Type: research
Clinical Management of Pediatric Genomic Testing
This article first discusses the framework for returning genomic information, and then ethical issues regarding return of results. Finally, it discusses potential harms and benefits, while recognizing that little is known about what these actually are. A new era of genomic information is in its infancy; handling genomic information in a way that provides patients and their families with knowledge that is helpful without causing distress is the greatest challenge. (Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - August 9, 2014 Category: Genetics & Stem Cells Source Type: research
The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia
Abstract
Familial hypercholesterolemia (FH) is the most common inherited cause of premature coronary heart disease and leads to significant morbidity and mortality. Genetic counselors are specialized health care professionals with advanced degrees and training in both medical genetics and psychosocial counseling. FH patients and their families require focused education regarding the heritable nature of their disease, the risk to family members, the necessity of cascade screening, and the availability of genetic testing. Patients and families may also benefit from additional services genetic counselors p...
Source: Current Genetic Medicine Reports - June 1, 2014 Category: Genetics & Stem Cells Source Type: research
