Precision Medicine will need to get out of the pharma silo that is based on symptoms


Welcome to the digital era of biology (and to this modest blog I started in early 2005).

To cure many diseases, like cancer or cystic fibrosis, we will need to target genes (mutations, for ex.), not organs! I am convinced that the future of replacement medicine (organ transplant) is genomics (the science of the human genome). In 10 years we will be replacing (modifying) genes; not organs!


Anticipating the $100 genome era and the P4™ medicine revolution. P4 Medicine (Predictive, Personalized, Preventive, & Participatory): Catalyzing a Revolution from Reactive to Proactive Medicine.


After low-cost airlines (Ryanair, Easyjet ...) comes "low-cost" participatory medicine. Some of my readers have recently christened this long-lasting, clumsy attempt at e-writing of mine "THE LOW-COSTE INNOVATION BLOG". I am an
early adopter of scientific MOOCs. My name's Catherine Coste. I've earned myself four MIT digital diplomas: 7.00x, 7.28x1, 7.28.x2 and 7QBWx. Instructor of 7.00x: Eric Lander PhD.

Upcoming books: Doomsdare, a medical thriller (action taking place in Beijing) Fall 2016; Jesus CRISPR Superstar, a sci-fi -- French title: La Passion du CRISPR (2017). Special thanks to Prof. Emmanuel Lincot, lawyer David Kilgour and Isabelle Provost for their help.

I love Genomics. Would you rather donate your data, or... your vital organs?

Audio files on this blog are Windows files ; if you have a Mac, you might want to use VLC (http://www.videolan.org) to read them.

Concernant les fichiers son ou audio (audio files) sur ce blog : ce sont des fichiers Windows ; pour les lire sur Mac, il faut les ouvrir avec VLC (http://www.videolan.org).


Who wants a lifetime risk of 65-90% of developing breast cancer? Not Angelina (and others)

"Since I trained as a research biologist, I have known for a long time the implication for my own health of having a mother, maternal grandmother and great-aunt who died following diagnoses of breast cancer in their 40s and 50s. I was just making the transition from working in a lab to working in science publishing when the BRCA1 gene was cloned, and I continued to make the non-decision not to find out my own mutation status as BRCA2 was also cloned and as certain mutations in BRCA1 and BRCA2 were found to be prevalent in people of Ashkenazi Jewish descent (as I am).
Blood Matters cover
http://blogs.plos.org/biologue/2013/09/24/a-dispatch-from-the-genetic-frontier/
But as my age crept closer to the age my mother was when diagnosed, I thought some more. I read the fascinating and well-researched book ‘Blood Matters: A Journey Along the Genetic Frontier’ by Masha Gessen, in which she took a similar decision to Jolie’s. I read research articles where I could get access to them – and incidentally increased my zeal for open access when they were hidden behind a subscription pay-wall. I spoke to friends and family. And finally I requested a referral from my general practitioner to a clinical geneticist who in due course asked for my family tree and medical history and then walked me through the implications.
He told me some harsh probabilities:
  • ‘Anywoman’ in the UK:
has a 1 in 9 lifetime chance of developing breast cancer.
  • With my family history:
make that 1 in 3.
  • Add in Ashkenazi descent:
extremely likely to be due to one of the small handful of mutations in BRCA1 or BRCA2 known to be specifically associated with this population.
  • And if you do have a BRCA1/2 mutation:
a lifetime risk of 65-90% of developing breast cancer. And add in a significant risk of ovarian cancer, which is much harder to screen for or diagnose early."


http://www.plosbiology.org
 

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