Suchergebnisse

Genomics is an advancing field of medicine, science, ethics, and legislation. Keeping up to date with this challenging discipline requires continuous education and exchange of knowledge between many target groups. Specific challenges in genomic education include tailoring complex topics to diverse audiences ranging from the general public and patients to highly educated professionals. National genomic projects face many of the same challenges and thus offer many opportunities to highlight common educational strategies for improving genomic literacy. We have reviewed 41 current national genomic projects and have identified 16 projects specifically describing their approach to genomic education. The following target groups were included in the educational efforts: the general public (nine projects), patients (six projects), and genomic professionals (16 projects), reflecting the general overall aims of the projects such as determining normal and pathological genomic variation, improving infrastructure, and facilitating personalized medicine. The national genomic projects aim to increase genomic literacy through supplementing existing national education in genomics as well as independent measures specifically tailored to each target group, such as training events, research collaboration, and online resources for healthcare professionals, patients, and patient organizations. This review provides the current state of educational activities within national genomic projects for different target groups and identifies good practices that could contribute to patient empowerment, public engagement, proficient healthcare professionals, and lend support to personalized medicine.

Economic Evaluation in Genomic Medicineintroduces health economics and economic evaluation to genomic clinicians and researchers, while also introducing the topic to health economists. Each chapter includes an executive summary, questions, and case studies, along with supplementary online materials, including process guides, maps, flow charts, diagrams, and economic evaluation spreadsheets to enhance the learning process. The text can easily be used as course material for related graduate and undergraduate courses, providing a succinct overview of the existing, state-of-the-art application of economic evaluation to genomic healthcare and precision medicine. Interrelates economic evaluation and genomic medicine Instructs healthcare professionals and bioscientists about economic evaluation in genomic medicine Teaches health economists about application of economic evaluation in genomic medicine Introduces health economics and economic evaluation to clinicians and researchers involved in genomics Includes process guides, maps, flow charts and diagrams

In More Science, Less Fear?, Jennifer Hochschild shows how the fraught politics of genomics is unfolding in American life. She focuses on genetically modified medicines that target African Americans, DNA evidence in the criminal justice system, the ancestry craze, and genetic tests in prenatal exams. She finds that contending camps differ in how they answer two questions: How significant are genetic factors in explaining human traits and behaviors? And, what is the right balance between risk acceptance and risk avoidance? Hochschild develops solutions that can reduce the ideological heat and more closely align the use of genomics with democracy.

The announcement of the Precision Medicine Initiative was an important step towards establishing the use of genomic information as part of the wider practice of medicine. The US military has been exploring the role that genomic information will have in health care for service members (SMs) and its integration into the continuum of military medicine. An important part of the process is establishing robust protections to protect SMs from genetic discrimination in the era of exome/genome sequencing.

Interoperable metadata is key for the management of genomic information. We propose a flexible approach that we contribute to the standardization by ISO/IEC of a new format for efficient and secure compressed storage and transmission of genomic information ; This work is partly supported by the Spanish Government (GenCom, TEC2015-67774- C2-1-R and TEC2015-67774-2-R). We also thank the EGA team for their valuable comments. ; Peer Reviewed ; Postprint (author's final draft)

Interoperable metadata is key for the management of genomic information. We propose a flexible approach that we contribute to the standardization by ISO/IEC of a new format for efficient and secure compressed storage and transmission of genomic information ; This work is partly supported by the Spanish Government (GenCom, TEC2015-67774- C2-1-R and TEC2015-67774-2-R). We also thank the EGA team for their valuable comments. ; Peer Reviewed ; Postprint (author's final draft)

Patient genomes are interpretable only in the context of other genomes. However, privacy concerns over genetic data oftentimes deter individuals from contributing their genomes to scientific studies and prevent researchers from sharing their data with the scientific community. In this talk, I will describe how we can leverage secure multiparty computation techniques from modern cryptography to perform useful scientific computations on genomic data while protecting the privacy of the participants' genomes. In multiple real scenarios, our methods successfully identified the disease-causing genes and even discovered previously unrecognized disease genes, all while keeping nearly all of the participants' most sensitive genomic information private. We believe that our techniques will help make currently restricted data more readily available to the scientific community and enable individuals to contribute their genomes to a study without compromising their personal privacy.
The material from this talk is based on joint works with Gill Bejerano, Bonnie Berger, Johannes A. Birgmeier, Dan Boneh, Hyunghoon Cho, and Karthik A. Jagadeesh.

Abstract
Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes are usually visible microscopically by chromosome studies. Human diseases that result from genomic rearrangements have been called genomic disorders. Three major mechanisms have been proposed for genomic rearrangements in the human genome. Non-allelic homologous recombination (NAHR) is mostly mediated by low-copy repeats (LCRs) with recombination hotspots, gene conversion and apparent minimal efficient processing segments. NAHR accounts for most of the recurrent rearrangements: those that share a common size, show clustering of breakpoints, and recur in multiple individuals. Non-recurrent rearrangements are of different sizes in each patient, but may share a smallest region of overlap whose change in copy number may result in shared clinical features among different patients. LCRs do not mediate, but may stimulate non-recurrent events. Some rare NAHRs can also be mediated by highly homologous repetitive sequences (for example, Alu, LINE); these NAHRs account for some of the non-recurrent rearrangements. Other non-recurrent rearrangements can be explained by non-homologous end-joining (NHEJ) and the Fork Stalling and Template Switching (FoSTeS) models. These mechanisms occur both in germ cells, where the rearrangements can be associated with genomic disorders, and in somatic cells in which such genomic rearrangements can cause disorders such as cancer. NAHR, NHEJ and FoSTeS probably account for the majority of genomic rearrangements in our genome and the frequency distribution of the three at a given locus may partially reflect the genomic architecture in proximity to that locus. We provide a review of the current understanding of these three models.

Chagas disease is a complex illness caused by the protozoan Trypanosoma cruzi displaying highly diverse clinical outcomes. In this sense, the genome sequence elucidation and comparison between strains may lead to disease understanding. Here, two new T. cruzi strains, have been sequenced, Y using Illumina and Bug2148 using PacBio, assembled, analyzed and compared with the T. cruzi annotated genomes available to date. The assembly stats from the new sequences show effective improvement of T. cruzi genome over the actual ones. Such as, the largest contig assembled (1.3 Mb in Bug2148) in de novo attempts and the highest mean assembly coverage (71X for Y). Our analysis reveals a new genomic expansion and greater complexity for those multi-copy gene families related to infection process and disease development, such as Trans-sialidases, Mucins and Mucin Associated Surface Proteins, among others. On one side, we demonstrate that multi-copy gene families are located near telomeric regions of the "chromosome-like" 1.3 Mb contig assembled of Bug2148, where they likely suffer high evolutive pressure. On the other hand, we identified several strain-specific single copy genes that might help to understand the differences in infectivity and physiology among strains. In summary, our results indicate that T. cruzi has a complex genomic architecture that may have promoted its evolution. ; This work was supported by the "Consejo Nacional de Ciencia y Tecnología" (CONACYT, México) through the FC-H Ph.D. studentship number 411595 and the "Consejo de Ciencia, Tecnología e Innovación de Hidalgo (CITNOVA, México);; "Ministerio de Economía y competitividad" (SAF2015-63868-R (MINECO/FEDER) to N.G., SAF2016-75988-R (MINECO/FEDER) to M.F.); "Red de Investigación de Centros de Enfermedades Tropicales" (RICET RD12/0018/0004 to M.F.); European Union (HEALTH-FE-2008-22303, ChagasEpiNet to M.F.); Comunidad de Madrid (S-2010/BMD-2332 to M.F.); and Institutional grants from "Fundación Ramón Areces" and "Banco de Santander"