Showing papers on "Personal genomics published in 2008"

The development and impact of 454 sequencing

Abstract: The 454 Sequencer has dramatically increased the volume of sequencing conducted by the scientific community and expanded the range of problems that can be addressed by the direct readouts of DNA sequence. Key breakthroughs in the development of the 454 sequencing platform included higher throughput, simplified all in vitro sample preparation and the miniaturization of sequencing chemistries, enabling massively parallel sequencing reactions to be carried out at a scale and cost not previously possible. Together with other recently released next-generation technologies, the 454 platform has started to democratize sequencing, providing individual laboratories with access to capacities that rival those previously found only at a handful of large sequencing centers. Over the past 18 months, 454 sequencing has led to a better understanding of the structure of the human genome, allowed the first non-Sanger sequence of an individual human and opened up new approaches to identify small RNAs. To make next-generation technologies more widely accessible, they must become easier to use and less costly. In the longer term, the principles established by 454 sequencing might reduce cost further, potentially enabling personalized genomics.

Sequencing breakthroughs for genomic ecology and evolutionary biology.

Abstract: Techniques involving whole-genome sequencing and whole-population sequencing (metagenomics) are beginning to revolutionize the study of ecology and evolution. This revolution is furthest advanced in the Bacteria and Archaea, and more sequence data are required for genomic ecology to be fully applied to the majority of eukaryotes. Recently developed next-generation sequencing technologies provide practical, massively parallel sequencing at lower cost and without the requirement for large, automated facilities, making genome and transcriptome sequencing and resequencing possible for more projects and more species. These sequencing methods include the 454 implementation of pyrosequencing, Solexa/Illumina reversible terminator technologies, polony sequencing and AB SOLiD. All of these methods use nanotechnology to generate hundreds of thousands of small sequence reads at one time. These technologies have the potential to bring the genomics revolution to whole populations, and to organisms such as endangered species or species of ecological and evolutionary interest. A future is now foreseeable where ecologists may resequence entire genomes from wild populations and perform population genetic studies at a genome, rather than gene, level. The new technologies for high throughput sequencing, their limitations and their applicability to evolutionary and environmental studies, are discussed in this review.

Letting the genome out of the bottle--will we get our wish?

Abstract: A patient shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). What should you do? Drs. David Hunter, Muin Khoury, and Jeffrey Drazen discuss the analytic and clinical validity of personal genomics testing. Dr. Muin Khoury discusses the technology behind the personal genomics testing services that are being offered directly to consumers and the limitations in the information they provide. Dr. Khoury is the director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention.

Genetic variation in an individual human exome.

Abstract: There is much interest in characterizing the variation in a human individual, because this may elucidate what contributes significantly to a person's phenotype, thereby enabling personalized genomics. We focus here on the variants in a person's ‘exome,’ which is the set of exons in a genome, because the exome is believed to harbor much of the functional variation. We provide an analysis of the ∼12,500 variants that affect the protein coding portion of an individual's genome. We identified ∼10,400 nonsynonymous single nucleotide polymorphisms (nsSNPs) in this individual, of which ∼15–20% are rare in the human population. We predict ∼1,500 nsSNPs affect protein function and these tend be heterozygous, rare, or novel. Of the ∼700 coding indels, approximately half tend to have lengths that are a multiple of three, which causes insertions/deletions of amino acids in the corresponding protein, rather than introducing frameshifts. Coding indels also occur frequently at the termini of genes, so even if an indel causes a frameshift, an alternative start or stop site in the gene can still be used to make a functional protein. In summary, we reduced the set of ∼12,500 nonsilent coding variants by ∼8-fold to a set of variants that are most likely to have major effects on their proteins' functions. This is our first glimpse of an individual's exome and a snapshot of the current state of personalized genomics. The majority of coding variants in this individual are common and appear to be functionally neutral. Our results also indicate that some variants can be used to improve the current NCBI human reference genome. As more genomes are sequenced, many rare variants and non-SNP variants will be discovered. We present an approach to analyze the coding variation in humans by proposing multiple bioinformatic methods to hone in on possible functional variation.

Sequence census methods for functional genomics

Abstract: Next-generation sequencing technologies are beginning to facilitate genome sequencing. But in addition, new applications and new assay concepts have emerged that are vastly increasing our ability to understand genome function.

Annotating genomes with massive-scale RNA sequencing.

Abstract: Next generation technologies enable massive-scale cDNA sequencing (so-called RNA-Seq). Mainly because of the difficulty of aligning short reads on exon-exon junctions, no attempts have been made so far to use RNA-Seq for building gene models de novo, that is, in the absence of a set of known genes and/or splicing events. We present G-Mo.R-Se (Gene Modelling using RNA-Seq), an approach aimed at building gene models directly from RNA-Seq and demonstrate its utility on the grapevine genome.

An Unwelcome Side Effect of Direct-to-Consumer Personal Genome Testing: Raiding the Medical Commons

Abstract: It is now possible for individuals to learn about their genetic susceptibility to dozens of common and complex disorders, such as coronary artery disease, diabetes, obesity, prostate cancer, and Alzheimer’s disease, without ever seeing a physician. Direct-to-consumer personal genome testing companies, such as 23andMe, Navigenics, and deCODEme hope to empower consumers to take control of their health by providing tailored assessments of genetic risk based on reported associations between genomic variation and susceptibility to disease. Several states limit or forbid this practice as a violation of state law that requires the appropriate involvement of a licensed physician when providing medical diagnostic information (1). Personal genome testing companies claim that their services are for informational and educational purposes only. They warn consumers that the information should not be used for diagnosis, treatment, or health ascertainment purposes and direct them to their physician if they have questions or concerns about their health status (2–3). Because of uncertainty about the validity and clinical utility of test results, Hunter and colleagues advise physicians to discourage patients from pursuing personal genome testing and to respond to test results with general statements about their limited predictive value (4). While this response is consistent with current knowledge, a recent survey of online social networking users suggests that at least some potential consumers would expect their physician to help them interpret test results and believe that physicians have a professional obligation to do so (ALM, unpublished data). This expectation has important implications for primary care physicians, even pediatricians, because many direct-to-consumer personal genome testing companies allow testing of children as well as adults. Primary care physicians already spend much of their time helping patients understand and manage health risks. Assessment of cardiac risk factors, occupational exposures and other health indicators allow physicians to identify health risks and counsel patients accordingly. Physicians are also accustomed to talking with patients about health information disclosed on the internet or through other media outlets. At the same time, primary care physicians have limited time with patients, face many competing demands (5), and are poorly reimbursed for time spent counseling patients about preventive care. Patient concerns about direct-to-consumer test results have the potential to exacerbate these problems and strain already limited health care resources.

Research ethics and the challenge of whole-genome sequencing.

Abstract: The recent completion of the first two individual whole-genome sequences is a research milestone. As personal genome research advances, investigators and international research bodies must ensure ethical research conduct. We identify three major ethical considerations that have been implicated in whole-genome research: the return of research results to participants; the obligations, if any, that are owed to participants' relatives; and the future use of samples and data taken for whole-genome sequencing. Although the issues are not new, we discuss their implications for personal genomics and provide recommendations for appropriate management in the context of research involving individual whole-genome sequencing.

Advantages and limitations of next-generation sequencing technologies: a comparison of electrophoresis and non-electrophoresis methods.

Abstract: The reference human genome provides an adequate basis for biological researchers to study the relationship between genotype and the associated phenotypes, but a large push is underway to sequence many more genomes to determine the role of various specificities among different individuals that control these relationships and to enable the use of human genome data for personalized and preventative healthcare. The current electrophoretic methodology for sequencing an entire mammalian genome, which includes standard molecular biology techniques for genomic sample preparation and the separation of DNA fragments using capillary array electrophoresis, remains far too expensive ($5 million) to make genome sequencing ubiquitous. The National Human Genome Research Institute has put forth goals to reduce the cost of human genome sequencing to $100,000 in the short term and $1000 in the long term to spur the innovative development of technologies that will permit the routine sequencing of human genomes for use as a diagnostic tool for disease. Since the announcement of these goals, several companies have developed and released new, non-electrophoresis-based sequencing instruments that enable massive throughput in the gathering of genomic information. In this review, we discuss the advantages and limitations of these new, massively parallel sequencers and compare them with the currently developing next generation of electrophoresis-based genetic analysis platforms, specifically microchip electrophoresis devices, in the context of three distinct types of genetic analysis.

Putting science over supposition in the arena of personalized genomics

Abstract: Colleen McBride and colleagues argue that progress on a multifaceted research agenda is necessary to reap the full benefits and avoid the potential pitfalls of the emerging area of personalized genomics. They also outline one element of this agenda, the Multiplex Initiative, which has been underway since 2006.

Personal genomes: when consent gets in the way.

Abstract: As the prospect of personal genomes for all promises to revolutionize personal health records, Patrick Taylor says that mandating consent does not protect privacy or ensure public benefit. As the number of humans with their genomes fully sequenced grows and direct-to-consumer gene profiling companies push the boundaries of medical genetics, the once fanciful idea that medical and other interventions can be tailored around an individual's personal genome begins to look plausible. Which raises the question: how do we use this wealth of information? This issue focuses on personal genomics and its consequences. In News Features we seek the 'missing heritability' that seems to limit the number of disease-linked genes being found, look at a technology that may drive next generation of DNA sequencing machines and reflect on the surprise closure of a lab at the forefront of genomics research. Commentaries discuss the problems of balancing an individual's rights to privacy with the maximization for public benefit and the ethics of personal genome tests. These matters are considered in the Editorial and go to http://tinyurl.com/6clk2x to air your views in the Nature forum. See also News and download the podcast from http://www.nature.com/podcast .

Individual Genomes Instead of Race for Personalized Medicine

Abstract: The cost of sequencing and genotyping is aggressively decreasing, enabling pervasive personalized genomic screening for drug reactions Drug-metabolizing genes have been characterized sufficiently to enable practitioners to go beyond simplistic ethnic characterization and into the precisely targeted world of personal genomics We examine six drug-metabolizing genes in J Craig Venter and James Watson, two Caucasian men whose genomes were recently sequenced Their genetic differences underscore the importance of personalized genomics over a race-based approach to medicine To attain truly personalized medicine, the scientific community must aim to elucidate the genetic and environmental factors that contribute to drug reactions and not be satisfied with a simple race-based approach Clinical Pharmacology & Therapeutics (2008); 84, 3, 306–309 doi:101038/clpt2008114

From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors.

Abstract: Genome rearrangements have long been recognized as hallmarks of human tumors and have been used to diagnose cancer. Techniques used to detect genome rearrangements have evolved from microscopic examinations of chromosomes to the more recent microarray-based approaches. The availability of next-generation sequencing technologies may provide a means for scrutinizing entire cancer genomes and transcriptomes at unparalleled resolution. Here we review the methods that have been used to detect genome rearrangements and discuss the scope and limitations of each approach. We end with a discussion of the potential that next-generation sequencing technologies may offer to the field.

Race, risk and medicine in the age of ‘your own personal genome’

Abstract: The intertwined genealogies of racialization and medicalization are mutating once more, with the much heralded arrival of personal genomics. A proliferation of commercial organizations now offer web-based services that, on the basis of an analysis of a DNA sample from a cheek swab and at the cost of a few hundred dollars, promise to scan millions of variations in ‘my genome’ and to tell me where my ancestors came from, to compare my genome with others, and to enable me to calculate my risk for dozens of diseases and conditions from age-related macular degeneration, through Alzheimer's disease and prostate cancer, to restless legs. These new forms of genetic information arise in part from a crisis in genomic medicine, combined with a radical reduction in the costs of gene sequencing. They are linked to a new form of thinking about the genomic bases of disease that link ancestry and medicine in new ways. These cannot be understood simply by deploying the familiar tropes of sociological and anthropological critique—by repeating that ‘race has no biological meaning’. In this article I try to characterize the new ways of thinking about individuals and populations, about risk and responsibility, and about race and population differentiation that are taking shape, and explore their personal and social implications.

Comparative genomics for detecting human disease genes.

Abstract: Originally, comparative genomics was geared toward defining the synteny of genes between species. As the human genome project accelerated, there was an increase in the number of tools and means to make comparisons culminating in having the genomic sequence for a large number of organisms spanning the evolutionary tree. With this level of resolution and a long history of comparative biology and comparative genetics, it is now possible to use comparative genomics to build or select better animal models and to facilitate gene discovery. Comparative genomics takes advantage of the functional genetic information from other organisms, (vertebrates and invertebrates), to apply it to the study of human physiology and disease. It allows for the identification of genes and regulatory regions, and for acquiring knowledge about gene function. In this chapter, the current state of comparative genomics and the available tools are discussed in the context of developing animal model systems that reflect the clinical picture.

The contractual genome: how direct-to-consumer genomic services may help patients take ownership of their DNA.

Abstract: The sequencing and genotyping of personal genomes by commercial services outside traditional clinical settings may help to shape the expectations of research subjects and patients regarding control of and responsibility for the information contained in their DNA. A greater sense of individual ownership of personal genomic information could replace overly complex and paternalistic institutional proxies for the protection of personal genotype and sequence data, and also could encourage research participants and patients to become better educated regarding genetic contributors to disease.

Genome Mapping and Genomics in Animals

Abstract: Genome mapping in animals is now one of the leading disciplines in animal sciences. It is employed for all facets in genome analysis in animals and their improvement for benefit of human beings. Mapping of genomes in farm animals, companion animals, laboratory animals, aquatic animals, insects, and primates, including humans have generated stupendous data bases to elucidate origin, evolution, phylogenetic relationship; position of genes; function, expression, regulation and sequence of genes. This information has tremendous applied value in agriculture, medicine, and environmental sciences. Paradoxically the information is mainly scattered only on the pages of journals, review papers and project/institutional reports. It is imperative now to have a comprehensive compilation of all these research findings in a single series for easy access to all levels of end users. The series Genome Mapping in Animals will fill this gap. It will provide comprehensive and up to date reviews on a large variety of selected animals systems contributed by teams of leading scientists from around the world.

Hippocrates revisited? Old ideals and new realities

Abstract: Individual genomics has arrived, personal deci- sions to make use of it are a new reality. What are the implications for the patient-physician relationship? In this article we address three factors that call the traditional con- cept of confidentiality into question. First, the illusion of absolute data safety, as shown by medical informatics. Second, data sharing as a standard practice in genomics research. Comprehensive data sets are widely accessible. Third, genotyping has become a service that is directly available to consumers. The availability and accessibility of personal health data strongly suggest that the roles in the clinical encounter need to be remodeled. The old ideal of physicians as keepers of confidential information is out- stripped by the reality of individuals who decide themselves about the way of using their data.

Human genetics: Dr Watson's base pairs.

Abstract: The application of new technology to sequence the genome of an individual yields few biological insights. Nonetheless, the feat heralds an era of 'personal genomics' based on cheap sequencing.

What price personal genome exploration

Abstract: Companies offering direct-to-consumer genomic information face tough questions about who regulates them, where they fit in health care and how to value their services. What will it take to move them from niche services to a broader customer base? Jeffrey Fox reports.

Using biointelligence to search the cancer genome: an epistemological perspective on knowledge recovery strategies to enable precision medical genomics.

Abstract: Genomic profiling is beginning to extend beyond the many applications in discovery research toward direct medical applications that hold the promise of more precise and individualized health-care delivery. There are many barriers and challenges that still need to be overcome before ‘Precision Medical Genomics’ can deliver the promise of more informed patient care, not the least of which is the unmet need for a new conceptual framework for recovering, understanding and translating potentially useful information from a single genome. Although a wide spectrum of scientific strategies, bioinformatic approaches, IT tools and knowledge resources have been developed to support discovery research, the interpretive requirements for recovering clinically useful insights from an individual's genome are different in many ways from those of traditional research goals. In this study, we compare and contrast the fundamental conceptual differences that distinguish ‘research’ to discover generalized knowledge from ‘search’ to recover individualized knowledge. We also consider the merits of applying evidence-based medicine and traditional scientific methods when n=1, and consider an alternative perspective based on a translational engineering approach and intelligence for interpreting genomic information from an individual case. Although the general idea of biological intelligence-based knowledge recovery that we introduce here can be broadly applied for personal genomics across many indications in medicine, we make a case that the need for adopting such a paradigm is greatest for supporting the management of complex diseases, and particularly suited for supporting therapeutic decisions in medical oncology. Early concepts for designing and implementing this kind of ‘BioIntelligence’ solution will be discussed. We also review the anticipated challenges of implementing genomic analysis and biological intelligence-based solutions in the practice of medical oncology by discussing some of the related pragmatic considerations for deploying the first generation of a ‘Precision Medical Genomics’ solution that can evolve and improve over time.

Waiting for the genetic revolution

Abstract: The sequencing of the human genome was completed in 2003. Since then we’ve been told that we’re living in the “genomic era”—the biggest revolution in human health since antibiotics, some say, and the beginning of scientific, personalised medicine. In the United States we’ve spent about $4bn (£2bn; €2.8bn) since 2000 to fund the National Human Genome Research Institute, so it seems fair to ask what we’ve got for our money. Certainly there have been dramatic improvements in the efficiency of DNA sequencing and other related technologies. Polymerase chain reaction and other amplification techniques have made what was exotic and painstaking work commonplace and quick. And I guess that some indirect applications of genomics can be found in the doctor’s surgery. Human papillomavirus DNA testing, rapid tests for some infectious diseases by polymerase chain reaction, HIV analyses, and other diagnostic laboratory tests have found their way into general practice. Genomic tools have been used to develop some drugs that specialists use, and more are being evaluated all the time. But most that I’ve heard of are the province of oncologists or ophthalmologists. Given that we baby boomers are all getting older, I suppose I should be happy that new drugs are available for age related macular degeneration, arthritis, and various cancers, but I’m not sure how big a difference they’ve made on a population basis. Pharmacogenomic testing may be able to help us target specific drugs at the people most likely to benefit from them, telling us who should get trastuzumab (if they can afford it), who is likely to be hypersensitive to which antiretroviral, or which chemotherapy regimen is likely to be most effective. But again this is consultant level stuff. What about the common, everyday diagnoses—heart disease, diabetes, and other multigene disorders? I hope that there is some new information out about them. Generally when I hear experts addressing GPs on genomics they offer the same stock examples: the woman with breast and cervical cancer in her family history who is referred with her daughters for testing; the man with colorectal cancer at a young age who turns out to have a hereditary syndrome. But we knew about these kinds of things a long time ago—we just didn’t have the exact gene. It comes down to taking a good family history. Maybe the future lies in the flashy new genetic testing websites that have sprung up, all planning to start collecting our money and DNA this year. Just pay your $995 to $2500, spit into a tube or scrape your cheek, and in four to six weeks you can see your genetic destiny on a special secure website. Apparently the smart money is betting on these companies, to judge from the venture capitalists they have behind them, including Google founder Sergey Brin and Silicon Valley guru Esther Dyson. These “personal genomic services” allow you to “unlock the secrets of your own DNA.” They can tell you your risk of developing lots of common and less common diseases, in comparison with the rest of the population. The rub, of course, is what to do with these data. All the sites take pains to point out that they aren’t giving medical advice. And most of them don’t report any single gene disorders that are the daily work of clinical geneticists and genetic counsellors. What are you supposed to do with the knowledge that you have a 30% increased risk of Alzheimer’s disease or a 40% less likelihood of developing atrial fibrillation? Change your behaviour? How? There is precious little evidence that simple knowledge about anything changes people’s health related behaviours. And even less is known about how people’s knowledge of their genetic risks will affect them. The US Centers for Disease Control and Prevention convened a panel of experts in 2004 to assess genetic tests and technologies for their appropriateness in practice. After three years of work setting up a systematic, evidence based process they have just issued their first recommendation. They evaluated pharmacogenomic testing for cytochrome P450 in depressed patients to predict how well selective serotonin reuptake inhibitors would work. Their conclusion: the evidence to recommend for or against such testing is insufficient (Genetics in Medicine 2007;7:819-25). And what about all the legal and ethical challenges involved in genetic testing, especially the broad genetic surveys? It’s probably not an accident that these new websites steer clear of conventional medical care. What will happen if (or when) insurance companies get hold of our genetic profiles? Legislation that would prohibit discrimination on the basis of genetic risks has been pending at the US Congress for a number of years but never seems to pass. It is no surprise that the US National Human Genome Research Institute has a whole programme devoted to research and policies on what they call “ELSI,” the ethical, legal, and social issues involved in genomics. This is not to say that progress hasn’t been made or that these discoveries won’t some day revolutionise health care. But the day when the genome is a regular part of the medical record, when personalised medicine is a reality rather than a catchphrase, seems a long way off. Precious little is known about how people’s knowledge of their genetic risks will affect their behaviour

Human genetics: Individual genomes diversify.

Abstract: The link between a person's genetic ancestry and the traits — including disease risk — that he or she exhibits remains elusive. Routine sequencing of the genomes of an African and an Asian individual offer a step forward. The power of the latest massively parallel synthetic DNA sequencing technologies is demonstrated in two major collaborations that shed light on the nature of genomic variation with ethnicity. The first describes the genomic characterization of an individual from the Yoruba ethnic group of west Africa. The second reports a personal genome of a Han Chinese, the group comprising 30% of the world's population. These new resources can now be used in conjunction with the Venter, Watson and NIH reference sequences. A separate study looked at genetic ethnicity on the continental scale, based on data from 1,387 individuals from more than 30 European countries. Overall there was little genetic variation between countries, but the differences that do exist correspond closely to the geographic map. Statistical analysis of the genome data places 50% of the individuals within 310 km of their reported origin. As well as its relevance for testing genetic ancestry, this work has implications for evaluating genome-wide association studies that link genes with diseases.

1000 Genomes on the Road to Personalized Medicine.

Abstract: The recently announced 1000 Genomes Project is an international collaboration to sequence 1000 individuals in an effort to produce the most complete catalog of human genetic variation to date Building on the International HapMap Project, the 1000 Genomes Project will utilize new sequencing technologies to catalog genetic variants that are present in the human population across most of the genome at a rate of 1 percent or greater frequency Investigators will not only look for single letter changes in the genome (called single nucleotide polymorphisms or SNPs), but will also look for differences in structural variants in the genome (segments of the genome that have been rearranged, deleted, or duplicated) (1) The first phase of the Project will involve three pilot studies The first will sequence the genomes of two nuclear families (an adult child and both parents) at deep coverage (20x) The second will sequence the genomes of 180 people at low coverage (2x) The third will sequence the coding regions (exons) of about 1000 – 2000 gene regions in 1000 people at deep coverage (20x) (2) The 1000 Genomes Project represents a major step forward on the road to personalized genomic medicine By creating an important scientific resource, the Project will help advance understanding of the complex relationship between genetic variation and human health and disease The promise of personalized genomics is not new; it was almost twenty years ago that the New York Times published an article that predicted: “In the not-so-distant future, we can expect to walk into a physician's office for an annual physical and walk out with a blueprint of our genetic inheritance - and with the knowledge of the most likely cause of our own death” (3) In the past year, individual genome sequencing has become possible (4–5) but it is still a long way from becoming a routine part of medical care In order to achieve its fullest potential, the 1000 Genomes Project, like other large scale sequencing projects that came before it, will have to be carefully designed to ensure adequate protection and respectful treatment of research participants In addition to addressing the research ethics issues involved, however, this new initiative creates an opportunity to reflect on the larger health system challenges that will have to be addressed before the knowledge that is gained through genome research can be integrated into routine clinical care

Legume Comparative Genomics

Abstract: The ability to make comparisons between genome sequences will be crucial for leveraging and exchanging knowledge learned in these model systems, and applying that knowledge to a wide range of agronomically important species. Sequence comparisons are also a key tool for the evolutionary trajectories giving rise to new plant functions, structures, chemistries, and physiologies. At the time of writing, four plant genome sequences are almost completely determined: Arabidopsis thaliana (At), two rice cultivars (Oryza sativa; Os), and Populus trichocarpa (Pt; black cottonwood or western balsam poplar). Genome sequencing is well underway for three legumes genomes: the model forage legumes Medicago truncatula (Mt) and Lotus japonicus (Lj), and Glycine max (Gm; soybean). Numerous other plant genome sequencing projects are also underway or planned, including tomato, corn, Mimulus guttatus (monkey flower), Physcomitrella patens (a moss), Miscanthus (switchgrass), Citrus sinensis (orange), Sorghum, cotton, cassava, Brachypodium distachyon (a model grass), and Aquilegia formosa (columbine). The extent to which knowledge can be extrapolated between genomes depends in large part on this fundamental question: how do genomes change, and do they all change the same way and at roughly similar rates? This very broad question can be divided and made more specific: what are (1) the organization of genes and non-genes; (2) the mechanisms of large-scale genome change; (3) the pace of synteny loss? Restating and elaborating these questions, (1) How similar are various genomes in organization of their component small parts: genes, regulatory regions, repetitive DNA, low-copy intergenic material, centromeric repeats, pericentromeric and telomeric sequences, etc? Do these elements behave essentially the same in all plant genomes? (2) Do all genomes change via similar mechanisms – acting in

What are the stakes? Genetic nondiscrimination legislation and personal genomics

Abstract: . These DTC genetic testing servicescover a wide range of topics from nutrigeneticsand genetic ancestry testing to testing forgenetic predispositions for hair loss. SinceNovember 2007, most North American andEuropean residents can also access informationon their own genetic predispositions to a widerange of phenotypes directly over the internet.For between US$985 and US$2500 and a smallamount of saliva, three companies examinebetween 600,000 and 1.1 million SNPs spreadacross their customers’ genomes to inform themabout their genetic ‘lifetime risks’ of afflictionwith a variety of diseases and conditions rangingfrom diabetes to Alzheimer’s disease. WhileNavigenics (CA, USA)