Imogene, and the broad CF community,
I am so excited, over what this means for the CF community, and for you and what you represent! For the CF community, we can generate "Un-FitBit" data, with all due respect for the athletes with CF. Add the medical data from our endless tests and images, treatments along with our genetics and we can provide a valuable dossier that science and medicine is praying for. I hate to keep comparing this to the story of how 23&Me sold, with permission to use the genetic and other information to advance science and medicine. IMHO, they should have been more direct about their plans to sell depersonalized genetic test data in the question about using the data to advance science and medicine. Even with my objections, I know this is what is required for the next leap in how medicine and medicines are going to help humanity.
I had the pleasure of working on the Human Genome Project. It's amazing how many people and institutes hammered out a small contribution to the HGP. After a great deal of combined discovery Craig Venter and his team came up with a novel plan. They cut human chromosomes into readable DNA strings with no concern for where the snippets belonged. Computer software read the masses of little strings and used the discovered overlaps, assembled the completed genome of a human. Actually there were seven if memory serves me. Most people don't realize how little that enormous project was worth. It's not as if we knew what all the A's, T's, G's, and C's meant.
The HGP was declared complete in 2003, with the goal of decoding the DNA, locating all the genes and their function. Not! We had the sequence of DNA, and some genes and and their functions representing a small fraction of them.
Fifteen years have passed and we know a great deal more about many if not most of our genes. In order to make real sense of how our genes get on with the functions of life, science needs rich deep genomic diaries, lot of them. Genetics has been advanced most from twin studies and island populations. Island populations don't have to be sequestered on a physical island. Religion and tribal cultures often keep to themselves, marrying within a tight population. CFers and other populations with genetic diseases, especially rare genetic diseases like CF afford an opportunity to understand much more than what a specific genetic error is like.
Most people have at least a passing interest in writing an autobiography. Reading the life stories of many people, often ordinary people in extraordinary circumstances enriches our understanding of humankind. When science can have the valuable genomic diaries on the order of a thousand people within a unique population, like Imogene has gathered from our community and the same from many groups following this model, the picture of how genetic medicine can contribute to the quality of life will come into focus.
Thank you so much Jeanne,
LL
