American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Adoption of a clinical pharmacogenomics implementation program during outpatient care–initial results of the University of Chicago “1,200 Patients Project”
Pharmacogenomic testing is viewed as an integral part of precision medicine. To achieve this, we originated The 1,200 Patients Project which offers broad, preemptive pharmacogenomic testing to patients at our institution. We analyzed enrollment, genotype, and encounter‐level data from the first year of implementation to assess utility of providing pharmacogenomic results. Results were delivered via a genomic prescribing system (GPS) in the form of traffic lights: green (favorable), yellow (caution), and red (high risk). Additional supporting information was provided as a virtual pharmacogenomic consult, including citatio...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Peter H. O'Donnell, Keith Danahey, Michael Jacobs, Nisha R. Wadhwa, Shennin Yuen, Angela Bush, Yasmin Sacro, Matthew J. Sorrentino, Mark Siegler, William Harper, Andrea Warrick, Soma Das, Don Saner, Christopher L. Corless, Mark J. Ratain Tags: Research Article Source Type: research

Implementing individualized medicine into the medical practice
We present our experience designing and executing such an individualized medicine clinic, sharing lessons learned and describing early implementation outcomes. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Konstantinos N. Lazaridis, Tammy M. MCAllister, Dusica Babovic‐Vuksanovic, Scott A. Beck, Mitesh J. Borad, Alan H. Bryce, Asher A. Chanan‐Khan, Matthew J. Ferber, Rafael Fonseca, Kiley J. Johnson, Eric W. Klee, Noralane M. Lindor, Jennifer B. MCCormic Tags: Research Article Source Type: research

Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand
The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk‐stratified evidence‐based prevention guidelines using MeTree, a patient‐facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population‐level risk) patients identified for breast/ovarian cancer, colon cancer, hereditary syndrome risk, and thrombosis; the prevalence of FHH elements triggering increased‐risk status; and the resources needed to manage their risk. Study design: hybrid ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Lori A. Orlando, R. Ryanne Wu, Chris Beadles, Tiffany Himmel, Adam H. Buchanan, Karen P. Powell, Elizabeth R. Hauser, Vincent C. Henrich, Geoffrey S. Ginsburg Tags: Research Article Source Type: research

Genomic medicine implementation: Learning by example
This article concisely reviews the working group and provides a broader context for the articles in the special issue including an assessment of anticipated provider needs and ethical, legal, and social issues relevant to the implementation of genomic medicine. The challenges of implementation of innovation in clinical practice and the potential value of genomic medicine are discussed. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Marc S. Williams Tags: Introduction Source Type: research

Return of results: Ethical and legal distinctions between research and clinical care
The return of individual results to research participants has been vigorously debated. Consensus statements indicate that researchers and bioethicists consider the return of research results most appropriate when the findings are clinically relevant. Even when clinical utility is the motivator, however, the return of individual research results is not equivalent to clinical care. There are important differences in the domains of research and medical care, both from a legal standpoint and in terms of the ethical responsibilities of clinicians and researchers. As a corollary, researchers risk promoting a therapeutic misconce...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Wylie Burke, Barbara J Evans, Gail P Jarvik Tags: Research Article Source Type: research

Implementation of an electronic genomic and family health history tool in primary prenatal care
“The Pregnancy and Health Profile,” (PHP) is a free genetic risk assessment software tool for primary prenatal providers that collects patient‐entered family (FHH), personal, and obstetrical health history, performs risk assessment, and presents the provider with clinical decision support during the prenatal encounter. The tool is freely available for download at www.hughesriskapps.net. We evaluated the implementation of PHP in four geographically diverse clinical sites. Retrospective chart reviews were conducted for patients seen prior to the study period and for patients who used the PHP to collect data on document...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Emily A. Edelman, Bruce K. Lin, Teresa Doksum, Brian Drohan, Vaughn Edelson, Siobhan M. Dolan, Kevin S. Hughes, James O'Leary, Shelley L. Galvin, Nicole DeGroat, Setul Pardanani, W. Gregory Feero, Claire Adams, Renee Jones, Joan Scott Tags: Research Article Source Type: research

Refining the structure and content of clinical genomic reports
To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. To communicate results of a randomized control trial aimed at the evaluation of exome sequencing for clinical medicine, we developed a structured narrative report. With feedback from genetics and non‐genetics professionals, we developed separate indication‐specific and incidental findings reports. Standard test report elements were supplemented with research study‐specific language, which highlighted the limitations of exome sequencing and provided detailed, structured results, and inte...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 10, 2014 Category: Genetics & Stem Cells Authors: Michael O. Dorschner, Laura M. Amendola, Brian H. Shirts, Lesli Kiedrowski, Joseph Salama, Adam S. Gordon, Stephanie M. Fullerton, Peter Tarczy‐Hornoch, Peter H. Byers, Gail P. Jarvik Tags: Research Article Source Type: research

Pontocerebellar hypoplasia
(PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes. In this review we will address the clinical picture, neuroradiological, pathoanatomic, and genetic findings in the currently known PCH subtypes. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2014 Category: Genetics & Stem Cells Authors: Sabine Rudnik‐Schöneborn, Peter G. Barth, Klaus Zerres Tags: Research Article Source Type: research

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that occurs due to either increased number or size of neurons and glial cells. The former may be due to either increased neuronal proliferation or decreased apoptosis. The degree of brain overgrowth may be extensive, ranging from generalized MEG affecting the entire cortex–as with mutations in PTEN (phosphatase and tensin homolog on chromosome ten)–to unilateral hemispheric malformations–as in classic hemimegalencephaly (HME). On the other hand, some lesions are more focal or segmental. These developmental brain abnormalities may occur...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2014 Category: Genetics & Stem Cells Authors: Ghayda M. Mirzaa, Annapurna Poduri Tags: Research Article Source Type: research

Agenesis of the corpus callosum: A clinical approach to diagnosis
This review article aims to guide the clinician in establishing a diagnosis in patients with agenesis of the corpus callosum (ACC), presenting antenatally or postnatally. ACC may be isolated, or occur in association with other neuroanatomical lesions and/or congenital anomalies, and has many different genetic causes. Neuropsychological outcome varies considerably from normal to profound intellectual disability depending on the etiology. Approximately 25% of individuals with antenatally diagnosed apparently isolated ACC have intellectual disability. Subtle neurological, social, and learning deficits may still occur in those...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2014 Category: Genetics & Stem Cells Authors: Elizabeth Emma Palmer, David Mowat Tags: Research Article Source Type: research

The genetics of lissencephaly
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years. Identification of the genetic basis of these disorders has brought fascinating insights into the mechanisms of brain development, as well as benefits to patients through improved molecular diagnosis and genetic counseling. This review explores the clinical presentation, radiological features, histological findings and molecular basis of lissencephaly with the aim of facilitat...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2014 Category: Genetics & Stem Cells Authors: Andrew E. Fry, Thomas D. Cushion, Daniela T. Pilz Tags: Research Article Source Type: research