My brother, Bruce, isn’t a doctor, but he saved someone in our family using the most current medical knowledge. When a family member of ours was diagnosed with a brain tumor, Bruce took matters into his own hands. He had the tumor’s genome sequenced and found several mutations. Then he used the Internet to do the necessary research and found a new and innovative chemotherapy that wasn’t even available locally. The physicians didn’t think that way, but my brother did. It was amazing, and our entire family is grateful. What brother Bruce did, is called “precision medicine.” There is now an initiative, with government money to do what Bruce discovered on his own. Most people can’t do what my brother did, but now they will have the help needed.
On Thursday, President Obama described the White House Precision Medicine Initiative by saying big data, genomics and cross collaboration can lead to a revolution in medicine.
“My hope is that this becomes the foundation, the architecture, whereby 10 years from now we can look back and say we’ve revolutionized medicine,” Obama said to a panel attending the White House summit on the matter.
One of the main goals of the initiative is to have people donate their health data and their genomes for analysis. Obama cited privacy issues and patient access to this health data as a primary concern, but said this is an issue that can be sorted out.
Dr. Francis Collins, director of the National Institute of Health, which will receive the bulk of the projected $309 million in imitative funding, said the goal is to get a cohort of a million people to donate their data. He predicted that it would take three to four years to assemble and enable those volunteers.
Using this data, scientists can work to map the causes of diabetes, mental illness, obesity, heart disease as well as other more unusual diseases. The goal is to connect genetic data with questionnaires regarding lifestyles and a person’s environment. The more genetic samples, “the more we can learn,” Obama said.
Project curators want to see veterans enrolled. As of today, 455,236 have signed up to take part in the study.
This project empowers patients to not just to be patients, but to be partners in this research, allowing then to elect their data to go into research projects of their choice and to make this “human-centered design,” said the president.
When Dr. James Hamblin spoke as part of the summit, he said previous health care was ineffective or inefficient, and the goal is to develop databases and pool the information.
Obama called the current system of health care a “disease care system,” where people wait until they are sick to seek health. The goal in all of this, he said, is to “empower individuals.”
When asked if this initiative could solve the epidemic of people dying from drug overdoses, the president said a lot of people don’t have basic health care, and they put off pain management. It then becomes less expensive to get heroin than refill a prescription.
Although there were several people who told their stories concerning the discoveries they had made mining their genome to get well, the one that stuck with me was the story told by Matt Might, a computer science professor who had a disabled son. They had “run out of diseases,” and they found that they could do a less-expensive sequencing of his son’s exome – the part of the genome that codes for proteins and is responsible for many genetic disorders. They found a gene, NGLY1, and because of using social media they now have 44 confirmed cases of a new disease. Matt Might also used what I call “Dr. Google” and found a compound on Amazon that worked. His child now can cry tears. As Matt Might said, “Every patient deserves the hope of a cure.”
Brother Bruce was not alone; there are other people doing what he did, even if there are just a few people searching for cures. They are taking matters in their own hands, and finding cures for family members who would be left to die or live their lives in a hopeless state.
The Precision Medicine Initiative is the right step for people who don’t have a Bruce or Matt as an advocate. It is a step that we need, and can make a world of difference for individuals and families and the change medicine entirely.