5 November 2007
Personalized Medicine in the Era of Genomics. Burke W, Psaty BM (2007) JAMA 298:1682-1684. Commentary offering useful ‘reality check’ on the real prospects for genomics in medicine, explaining that clinical practice has always had the aim of individualized care, and noting that genetic test information will simply add an additional dimension to the spectrum of information and interventions that clinicians consider for each patient (PubMed).
Use and misuse of preimplantation genetic testing. Braude P, Flinter F (2007) BMJ 335(7623):752-4. Analysis piece contrasting the success of PGD with the lack of evidence to support prenatal genetic screening , looking ahead to possible future applications and the necessity to ensure the technique is only used with suitable medical justification (PubMed).
Pluripotency redux - advances in stem-cell research. Gearhart J, Pashos EE, Prasad MK (2007) N Engl J Med. 357(15):1469-72. Perspective piece reviewing recent developments in stem cell research (PubMed).
The 4th October issue of Nature has a special technology feature on genomics:
Genomics: the personal side of genomics. Blow N (2007) Nature 449(7162):627-30. Piece looking at the advances in sequencing and genotyping technology that are driving the pursuit of ‘personal genomics’ (PubMed). Followed by a series of brief profiles:
Genomics: Being Well Informed. Blow N (2007)Nature 449(7162):627 (PubMed).
Genomics: Truth and accuracy. Blow N (2007) Nature 449(7162):628 (PubMed).
Genomics: Chipping out our differences. Blow N (2007) 449(7162):629 (PubMed).
A matter of trust. Nature 2007 449(7163):637-8. Editorial piece calling for social scientists studying data protection to contribute to research on trust and scientific research, and proposing that abuse of personal data should be made a criminal offence (PubMed).
Ethical and legal aspects of cancer genetic testing. Offit K, Thom P (2007) Semin Oncol. 34(5):435-43. Review of ethical issues and legal liabilities associated with genetic testing for cancer (PubMed).
The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology? Jaquish CE (2007) BMC Med Genet. 8(1):63. Commentary accompanying articles on genome-wide association studies using data from the Framingham Heart Study (PubMed).
The 18th October issue of Nature has several features on personal genomics:
Do-it-yourself science. Nature 449(7164):755-6.Editorial suggesting that clinical geneticists will have to revise the professional and ethical framework for collaborating with patients and their advocates, now that so much genetic information is available to members of the public (PubMed).
So similar, yet so different. Check Hayden E (2007) Nature 449(7164):762-3. News feature on the possible impact in terms of disease risk and variability of very small sections of the human genome that show a high degree of variation between individuals (PubMed).
Personal genomics: His daughter's DNA. Maher B (2007) Nature 449(7164):773-6.News feature on a trained geneticist who set out to find the cause of his baby’s congenital defects for himself (PubMed).
Common sense for our genomes. Brenner SE (2007) Nature 449(7164):783-4. Commentary piece considering how a personal genome sequence could be of use if the means were available to properly interpret the information therein, and proposing the establishment of a public knowledge database of human genetic variation and its effect (PubMed).
Genetics. The science and business of genetic ancestry testing. Bolnick DA et al. (2007) Science. 318(5849):399-400. Policy forum article on the limitations and potential dangers of commercial genetic ‘ancestry testing’ (PubMed)
When Is Open Access Not Open Access? MacCallum CJ (2007) PLoS Biology 5(10): e285. Editorial calling for more precise definitions of ‘open access’ and distinguishing between ‘open access’ and ‘free access’ journals (article).
Are “Ultraconserved” Genetic Elements Really Indispensable? Gross L (2007) PLoS Biol 5(9): e253 (article).
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Kobrynski LJ, Sullivan KE (2007) Lancet 370(9596):1443-52. Seminar on a relatively common form of chromosomal deletion syndrome (PubMed).
Molecular screening for cervical cancer - time to give up Pap tests? Runowicz CD (2007) N Engl J Med. 357(16):1650-3. Editorial piece accompanying latest results from a trial comparing HPV DNA testing with conventional screening (Pap tests) for cervical cancer (PubMed).
Genetics. Why genomes in pieces? Landweber LF (2007) Science 318(5849):405-7. Perspectives piece on recent discoveries of discontinuous genetic systems in eukaryotic organisms and how they challenge the central dogma of molecular biology (PubMed).
A brief history of (DNA sequencing) time. Mardis ER (2007) Nature Rev Genet 8, S21; doi:10.1038/nrg2240 (article).
Celebrating invention. Southern E (2007) Nature Rev Genet 8, S22; doi:10.1038/nrg2248 (article).
A lasting marriage: histones and DNA tie a knot that is here to stay. Shechter D, Allis CD (2007) Nature Rev Genet 8, S23; doi:10.1038/nrg2249 (article).
Embracing the complexity of common human diseases through technology integration. Schadt EE (2007) Nature Rev Genet 8,S24 (2007); doi:10.1038/nrg2241 (article).
Genetic links between diet and lifespan: shared mechanisms from yeast to humans. Bishop NA, Guarente L (2007) Nat Rev Genet. 8(11):835-44. Review of underlying pathways and prospects for the treatment of age-related illnesses (PubMed).
Recent and ongoing selection in the human genome. Nielsen R, Hellmann I, Hubisz M, Bustamante C, Clark AG (2007) Nat Rev Genet. 8(11):857-68. Review on how regions of the human genome have been subject to evolutionary selection, and prospects and caveats for medical research (PubMed).
Gene interactions in depression: pathways out of darkness. Harvey M, Belleau P, Barden N (2007) Trends Genet. Oct 24; [Epub ahead of print]. Review on genetic associations with depression and their implications (PubMed).
New links to the pathogenesis of Crohn disease provided by genome-wide association scans. Mathew CG (2007) Nat Rev Genet. Oct 30; [Epub ahead of print]. Review of genetic factors associated with CD and their implications (PubMed).
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Emanuel BS, Saitta SC (2007) Nat Rev Genet. 8(11):869-83. Review of genetic disorders mediated by segmental duplications (PubMed).
Specialization and evolution of endogenous small RNA pathways. Chapman EJ, Carrington JC (2007) Nat Rev Genet. 8(11):884-96. Review of current understanding of small RNA pathways for regulation of the human transcriptome (PubMed).
Histone lysine demethylases: emerging roles in development, physiology and disease. Shi Y (2007) Nat Rev Genet. 8(11):829-33. Progress report on the role of this group of enzymes in health and disease, plus prospects for therapeutic targeting of epigenetic regulators (PubMed).
Technologies of humility. Jasanoff S (2007) Nature 450(7166):33. Essay on the inevitable uncertainties that scientific research produces, and the inherent partiality of such research, calling for both researchers and policy makers to take this into account (PubMed).
Can we use family history as a tool for disease prevention and public health? Online seminar provided by the US CDC National Office of Public Health Genomics and National Center for Chronic Disease Prevention and Health Promotion (presentation).