Notable Accomplishments in Genomic Medicine

The NHGRI Genomic Medicine working group has compiled a list of significant advances in the realm of genomic medicine over the past two years. This list will be updated monthly.

• Oncology
• Sequencing
• Disease-based Findings
• Policy

Oncology

2012

• October: Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival [nejm.org]
• September: Comprehensive molecular portraits of human breast tumours [ncbi.nlm.nih.gov]
• September: Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study [ncbi.nlm.nih.gov]
• August: Vemurafenib: a new treatment for BRAF-V600 mutated advanced melanoma [ncbi.nlm.nih.gov]
• July: FDA Approval for Cetuximab: Approved for K-ras wild-type, EGFR-expressing Metastatic Colorectal Cancer [cancer.gov]
• July: Genetic Gamble: New Approaches to Fighting Cancer [nytimes.gov]
  Three-part, New York Times series on cancer sequencing
• March: Intratumor heterogeneity and branched evolution revealed by multiregion sequencing [ncbi.nlm.nih.gov]

2011

• January: Massive genomic rearrangement acquired in a single catastrophic event during cancer development [ncbi.nlm.nih.gov]
• March: Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease [ncbi.nlm.nih.gov]
• February: NT5E mutations and arterial calcifications [ncbi.nlm.nih.gov]

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Sequencing

2012

• December: Diagnostic exome sequencing in persons with severe intellectual disability [www.ncbi.nlm.nih.gov]
• October: Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units [ncbi.nlm.nih.gov]
• August: Tracking a hospital outbreak of carbapenem-resistant Klebsiella pneumoniae with whole-genome sequencing [ncbi.nlm.nih.gov]
• June: Noninvasive whole-genome sequencing of a human fetus [ncbi.nlm.nih.gov]
• March: Personal omics profiling reveals dynamic molecular and medical phenotypes [ncbi.nlm.nih.gov]

2011

• March: Universal noninvasive detection of solid organ transplant rejection [ncbi.nlm.nih.gov]

Top of page [ncbi.nlm.nih.gov]

Disease-based Findings

2012

• February: Truncations of titin causing dilated cardiomyopathy [ncbi.nlm.nih.gov]

2011

• November: A CFTR potentiator in patients with cystic fibrosis and the G551D mutation [ncbi.nlm.nih.gov]
• August: Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease [ncbi.nlm.nih.gov]

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Policy

2013

May: The policy of public health genomics in Italy [ncbi.nlm.nih.gov]
 

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Last Updated: May 15, 2013