Current Genetic Medicine Reports

http://link.springer.com/journal/40142

List of Papers (Total 67)

Epigenetic Editing: On the Verge of Reprogramming Gene Expression at Will

Genome targeting has quickly developed as one of the most promising fields in science. By using programmable DNA-binding platforms and nucleases, scientists are now able to accurately edit the genome. These DNA-binding tools have recently also been applied to engineer the epigenome for gene expression modulation. Such epigenetic editing constructs have firmly demonstrated the...

Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape

Purpose of Review Psychiatry is steadily moving toward a new conceptualization of brain disorders that blurs long-held diagnostic distinctions among neurodevelopmental and psychiatric conditions, including autism. Genomic discoveries are driving these changing perceptions, yet there has so far been minimal impact on traditional genetic counseling practices that continue to view...

Genetics of Lipid and Lipoprotein Disorders and Traits

Purpose of Review Plasma lipids, namely cholesterol and triglyceride, and lipoproteins, such as low-density lipoprotein (LDL) and high-density lipoprotein, serve numerous physiological roles. Perturbed levels of these traits underlie monogenic dyslipidemias, a diverse group of multisystem disorders. We are on the verge of having a relatively complete picture of the human...

Understanding the Basics of NGS: From Mechanism to Variant Calling

Identifying disease-causing mutations in DNA has long been the goal of genetic medicine. In the last decade, the toolkit for discovering DNA variants has undergone rapid evolution: mutations that were historically discovered by analog approaches like Sanger sequencing and multiplex ligation-dependent probe amplification (“MLPA”) can now be decoded from a digital signal with next...

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice

This paper summarizes the current controversies surrounding the identification and disclosure of “incidental” or “secondary” findings from genomic sequencing and the implications for genetic counseling practice. The rapid expansion of clinical sequencing has influenced the ascertainment and return of incidental findings, while empiric data to inform best practices are still being...

Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

From a neuropathological perspective, elderly patients who die with a clinical diagnosis of sporadic Alzheimer’s disease (AD) are a heterogeneous group with several different pathologies contributing to the AD phenotype. This poses a challenge when searching for low effect size susceptibility genes for AD. Further, control groups may be contaminated by significant numbers of...

The Influences of Genetic and Environmental Factors on Methylome-Wide Association Studies for Human Diseases

DNA methylation (DNAm) is an essential epigenetic mechanism for normal development, and its variation may be associated with diseases. High-throughput technology allows robust measurement of DNA methylome in population studies. Methylome-wide association studies (MWAS) scan the DNA methylome to detect new epigenetic loci affecting disease susceptibility. MWAS is an emerging...

Understanding the Paradigm Challenges Posed by Multiplex Panel Testing for Cancer Susceptibility

Massively parallel (“next generation”) sequencing (MPS) is a technology that has revolutionized genetics. In clinical cancer genetics, MPS affords the opportunity to concurrently analyze the sequence of an arbitrary number of genes that may be related to a clinical presentation, such as breast cancer. This multiplex panel testing may identify germ line pathogenic variants in...

Management Strategies for Ethics in International Research

PERSPECTIVE is a large-scale, international research project that aims to develop a risk stratification approach for breast cancer screening. This project involving many researchers as well as samples and data from 30 different countries creates novel ethical challenges. We discuss some specific issues that have arisen in the context of the PERSPECTIVE project as well as the...

Clinical Management of Pediatric Genomic Testing

As sequencing becomes integrated into clinical medicine, many complex ethical questions arise regarding the return of genomic information, especially in pediatrics. Issues center on the best interests of the child, particularly in return of information about adult-onset conditions. These include the child’s future autonomous decision-making and access to knowledge about treatable...

Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Health Record

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...

Subtle Psychosocial Sequelae of Genetic Test Results

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...

Ethical and Policy Issues in Genetic Prediction of Violence: Implications for Clinicians

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...

After Myriad: Genetic Testing in the Wake of Recent Supreme Court Decisions about Gene Patents

Genetic testing is becoming more common and more powerful by the day. The costs of the underlying DNA sequencing technology are plummeting, making it likely that tests based on it will become even more pervasive. The use of tests to determine DNA sequence to help make clinical decisions is here to stay. DNA sequencing is also finding new uses in forensics, determination of...

Pharmacogenomics for Precision Medicine in the Era of Collaborative Co-creation and Crowdsourcing

The whole gamut of new technologies in the past decade has revolutionized DNA sequencing, making it cheaper, efficient, and scalable. The consequent big-data in genomics have posed new challenges and opportunities. The transformation of internet as a fabric that intertwines multiple technological and social layers and the rise of platforms that can organize and integrate...

The Rapidly Emerging Role for Whole Exome Sequencing in Clinical Genetics

Sequencing of the exome, the protein-coding region of the human genome, has quickly grown into a new approach for clinical diagnosis of disease. Enabled by next-generation sequencing technologies, clinical exomes accompanied by clinical interpretation of the genome variants are used today to guide health care providers in understanding and diagnosing their patient’s disease...

The Genetics of Common Epilepsy Disorders: Lessons Learned from the Channelopathy Era

Idiopathic epilepsies are thought to be almost entirely the result of genetic determinants, most of which remain undiscovered. It was once widely accepted that mutations that change the amino acid sequence of ion channel proteins were the major cause of these epilepsies, making epilepsy in general a “channelopathy.” Since then, more comprehensive analysis of ion channel-encoding...

Copy Number Variation in Congenital Heart Defects

Congenital heart defects (CHDs) are the most common birth defect and a major contributor to mortality, morbidity, and healthcare costs throughout the world. Although improvements in surgical advances and cardiac care have increased the lifespan of individuals with CHDs, the underlying etiologies of disease remain elusive and there have been no interventions that decrease disease...

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses

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...

New Innovations: Therapies for Genetic Conditions

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...

Incidental Finding in Copy Number Variation (CNV) Analysis

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...

CNVs in Epilepsy

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...