Friday, September 8, 2017

Very Brief Blog: JAMA Publishes Flurry of Genomics Articles

This week, JAMA publishes a little flurry of genomics articles.

  • Mandelker et al. review the value of mutation detection in patients with cancer by simultaneously screening BOTH tumor mutations AND germline variants.  JAMA 318:825, here.
  • Van Allen discusses the clinical implications of combined tumor/germline testing in an Op-Ed.  JAMA 318:801, here.
  • Dolan et al. discuss preimplantion genetic diagnostics for Mendelian conditions.  JAMA 318:859, here.    


A few weeks ago, JAMA published Muin Khoury's "No Shortcuts on the Long Road to Evidence Based Genomic Medicine," JAMA 318:27, here.  

And regarding the new publication on preimplantation genetic diagnostics, this single cell technology in zygotes is only practical if you know what you are looking for, which may be identified earlier by carrier screening; Haque et al., a study of 346,000 individual genotypes, JAMA 2016 316:734, here.