Selected new reviews and commentaries, 3 August 2007

3 August 2007

HER2 status in breast cancer—an example of pharmacogenetic testing. Kroese M, Zimmern RL, Pinder SE (2007) J R Soc Med. 100(7):326-9. Review of breast tumour HER2 testing for trastuzumab (Herceptin) treatment, including discussion of future options for the national provision of HER2 testing in the UK (PubMed).

Non-replication of association studies: "pseudo-failures" to replicate? Gorroochurn P, Hodge SE, Heiman GA, Durner M, Greenberg DA (2007) Genet Med. 9(6):325-31. Commentary arguing that the scientific community usually has unreasonably high expectations of replication success for genetic association studies (PubMed).

Update on psychiatric genetics. Zuchner S, Roberts ST, Speer MC, Beckham JC (2007) Genet Med. 9(6):332-340. Review of current understanding of the role of genetic factors in various psychiatric disorders, predicting future lines of research (PubMed).

Preimplantation genetic screening in older mothers. Collins JA (2007) N Engl J Med. 357(1):61-3. Editorial accompanying research article on a trial of PGD, which reported that use of the technique reduced the rate of successful pregnancies and live births; the author concludes that PGD for aneuploidy should not be used solely for advanced maternal age, and calls for adequately powered randomized trials (PubMed).

Should families own genetic information? Yes. Lucassen A (2007) BMJ 335(7609):22. ‘Head to head’ debate article arguing that if anyone is to own genetic information, it should be all those who have inherited it (PubMed).

Should families own genetic information? No. Clarke A (2007) BMJ 335(7609):23. ‘Head to head’ debate article arguing that genetic information is private and personal, and that non-disclosure does not usually result in immediate grave damage to a family member; however, the author notes that specific disease-causing mutations, information could be said to belong to the laboratory or health service rather than the individual or family (PubMed).

NHS research ethics committees. Robinson L, Murdoch-Eaton D, Carter Y (2007)BMJ 335(7609):6. Editorial proposing that NHS research ethics committees need more commen sense and less bureaucracy (PubMed).
Genetic linkage and association analyses for trait mapping in Plasmodium falciparum. Su X, Hayton K, Wellems TE (2007) Nat Rev Genet. 8(7):497-506. Review of genomic information presently available for malaria parasites, and implications for the understanding of malaria pathogenesis, transmission and treatment (PubMed).
RNA regulons: coordination of post-transcriptional events. Keene JD (2007) Nat Rev Genet. 8(7): 533-43. Review of the function of RNA operons in different species, and their potential role in normal and pathological mechanisms (PubMed).

Communicating genetic information in the family: the familial relationship as the forgotten factor. Gilbar R (2007) J Med Ethics. 33(7):390-3. Discussion article advocating a relationalperception of autonomy with respect to genetic information, which would take into account the effect of disclosure or non-disclosure on family dynamics, and require a relaxation of medical confidentiality so that the family (rather than the patient) is perceivedas the unit of care (PubMed).

Stem cells: The magic brew. Rossant J (2007) Nature 448(7151):260-2. News and views piece on prospects for extending work creating embryonic stem-like cells from mouse skin cells into humans (PubMed).

Neurobiology: New order for thought disorders. Role LW, Talmage DA (2007) Nature 448(7151):263-5.News and views piece on insights into complex human psychiatric disorders gained from genetic studies in mice (PubMed).

The Role of Genetic Testing for Cancer Susceptibility in Gynecologic Practice. Karlan BY, Berchuck A, Mutch D (2007) Obstet Gynecol. 110(1):155-167. Discussion of the role of inherited cancer susceptibility, genetic testing for mutations and practical applications of results in gynaecological practice (PubMed).

Discriminating on genes. Nature 2007 448(7149):2. Editorial piece endorsing the recent US Genetic Information Nondiscrimination Act and calling for other countries to enact legislation to protect genetic information from insurers and employers (PubMed).

The search for genetic variants predisposing women to endometriosis. Di W, Guo SW (2007) Curr Opin Obstet Gynecol. 19(4):395-401. Review of current evidence on genetic factors that influence risk of endometriosis, concluding that further and more robust genetic epidemiological studies are required (PubMed).

Advancing stroke therapeutics through genetic understanding.Ross OA, Worrall BB, Meschia JF (2007) Curr Drug Targets. 8(7):850-9. Review looking at how validated associations between genetic variants and stroke may affect the development of novel and improved treatments (PubMed).

Rational design of cancer-drug combinations. Ramaswamy S (2007) N Engl J Med. 357(3):299-300. Clinical implications of basic research article on prospects and barriers for new, intelligent design of chemotherapeutics (PubMed).

Common pathways in inflammatory diseases revealed by genomics. Massey DC, Parkes M (2007) Gut Jul 16; [Epub ahead of print. Review of recent progress towards identifying genetic variants involved in predisposition to common diseases such as Crohn’s disease, from genome-wide association studies (PubMed).

Innate immunogenetics: a tool for exploring new frontiers of host defence. Bochud PY, Bochud M, Telenti A, Calandra T (2007) Lancet Infect Dis. 7(8):531-42. Article looking at prospects for improved understanding of genetic influences on innate immune responses, and potential applications in the development of anti-microbial interventions (PubMed).

Achondroplasia. Horton WA, Hall JG, Hecht JT (2007) Lancet. 370(9582):162-72. Seminar on this most common form of short-limb dwarfism, including epidemiology, genetics and pathophysiology (PubMed).

Genes, cancer risks, and clinical outcomes. Hartge P (2007) N Engl J Med. 357(2):175-6. Editorial accompanying report on the influence of BRCA1/2 mutation status on presentation, treatment and survival of breast and ovarian cancer patients (PubMed).

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