Even with the ethical dilemmas involved and murky predictability, I still think the potential is fascinating. A story on the whole genome of a family of four, and how the research predicted the daughter's risk of blood clots and a warning against possible preventive pharmacological intervention, caught my eye.
The dad had two pulmonary embolisms in 2003, and later tests showed a mutation on the Factor V gene that increases the risk of blood clots. His daughter has the same mutation, plus a few others that not only put her at risk for embolism but also inherited thrombophilia (although that one's controversial). Yet they also found that the daughter and mother would have a higher bleeding risk from using the blood thinner Plavix - which could have been prescribed if the daughter ever developed a thrombosis.
Others can speak more eloquently than I about the merits and challenges with this paper, but I thought it was an interesting story and wanted to share.
Here's the Wall Street Journal article and here's the PLoS Genetics article.
- Heparin Ineffective At Preventing Blood Clots In Pregnant Women
- Researchers Identify 5 Genetic Variations Associated With Venous Thrombosis In Women
- 'Clot Busters' No Better Than Traditional Blood Thinners For Lung Blood Clots
- Sanofi's Investigational Semuloparin In Cancer Patients Initiating Chemotherapy Shows A 64 % Risk Reduction In Life-Threatening Venous Thrombo-Embolism
- Curing Disease Through Genome Editing