After describing himself as an “unemployed geneticist”, Francis Collins now reveals that he has been “working night and day” with the White House transition for health and human services with Tom Daschle.  Now that that’s over, he is ready to discuss the progress that personalized medicine needs for it to move forward in a responsible way.

Francis Collins, the public face of the human genome research and former director of the National Human Genome Research Institute, spoke to biomedical researchers, biotech execs and policy people at a meeting in Washington DC organized by the Personalized Medicine Coalition.

"If we’re serious about preventive medicine, and using personalized genomics to inform that, we’re not going to change the genome," he said. "It’s the environment we’re going to want to change."

And I wholeheartedly agree! Whether we know about our specific risks to certain diseases (which is the useful information out of personalized medicine) or we are unaware of such risks, nothing beats having a healthier lifestyle at preventing unwanted health problems.

Collins also addressed the lack of oversight surrounding direct-to-consumer genetic testing services. He suggests the creation of a public database where consumers can find out about these tests objectively – how useful the tests are, how valid their results, and how responsible are the companies that provide for them.

Francis Collins also commented on the much talked-about drugs Abacavir and Wafarin. Read the rest of the story here - Francis Collins Addresses State of Personalized Medicine.

Image: Newscom

With still no gene therapy drug approved by the FDA, and only one controversial product in the market (Gendicine, approved only in China) since 2004, gene therapy is very much in its experimental stages.

And yet, the global market for gene therapy is already projected to reach $484 million by 2015. There is quite a huge revenue to be made, but still way below the estimates when Gendicine first came out. Market predictions depend on the approval of products, cost of treatment and the population that the drugs target but progress has been slow until this year. In May 2008, Phase III trial for end-stage head and neck cancer, the first for cancer, showed marked improvements in patient survival. In April and later in October, six patients with inherited blindness reported better vision when treated using an adeno-associated virus delivered directly to the eyes.

Currently, many other cancer and cardiovascular diseases are already in Phase III/Phase II of clinical trials, so there is promise in the horizon.

Image credit: Newscom

I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it.

Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding.

Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him that his $20,000-per-week treatment didn’t seem to be working (in delaying the progression of the disease). Trey hasn’t grown an inch or gained a pound in months. Trey soon met a 20-year old man who has been suffering from the same disorder and the two families found mutual support. Later, word got out about the young boy’s struggles and schools and other children began donating to his treatment. Next month, Trey will go back to Minnesota and try another round of treatments. The Arizona Central article didn’t mention the specific treatments for Trey, but a clinical trial for an enzyme replacement therapy using recombinant human arylsulfatase B (rhASB) recently found success.