Jana Monoco can tell you how important those screenings are. She knows that now. She didn't know, when her son Stephen was born 10 years ago, that he carried a gene that would trigger a disease that would send his body into full crisis when he was 3 years old, and would leave him brain-damaged for life. But when Monoco became pregnant with Stephen's little sister, Caroline, she knew all about that gene and had Caroline tested in the womb. Caroline had the gene. So Jana lined up a phalanx of specialists who rushed in the minute Caroline was born, started her on high-powered medication, and laid out a medical plan for her that has her, at age 7, healthy and happy.
"It was designed by the hour what to do with this baby once she was born," Monoco said, cradling Stephen, 10, as she administers his medicines. Caroline, 5, lovingly brought a toy to her older brother, who cannot speak. In that moment, the difference that a genetic test made in her life is startlingly clear. "We knew she could have a healthy normal life if she had that early intervention," Monoco said.
And that thought holds true for so many of us, on so many levels. Early intervention is key not only in treating disease, but in preventing it.
That's where scientists are really hopeful They envision, in the not-too-distant future — maybe 20 years from now, maybe less — that the health screenings for newborn babies will include a full genome-scan, of all 20,000-plus genes in that baby's body. It could provide a kind of medical road-map for life, outlining which diseases are most likely to be a concern for that baby as it grows up. It could also tell doctors which medicines and treatments and screenings will work best for that child, as a child and then as an adult.
Topol, of the Scripps Genomic Medicine Program, believes that will make all the difference.
"Today," he explained, "we say every woman has to have a mammogram every year after age 40, and everyone should have a colonoscopy every five years," he said. " Well, that's crazy. What we should be saying is: Look, you have no risk of breast cancer so maybe we can just check it every ten years. Or, you should have a colonscopy every ten or twenty years, or never, because you don't have a risk of colon cancer."
And when the genetic tests show an elevated risk, he said, "those who have significant risk we will be able to track so much more precisely in a refined and elegant way."
That's exactly where Collins sees medicine heading.
"The whole idea here is to take medicine, which at the moment is the best we can do, sort of a generalized one-size-fits-all approach, and really make it appropriate for the individual," he said. "You wouldn't go to the shoe store and walk down the aisle and just grab any old pair of shoes without checking the size. But, you know, when you go to the hospital or the clinic or your doctor's office, that's kind of what's happening because that's all we've known how to do. All that is changing. I think in 10 or 15 or 20 years, we'll look back at 2008 and shake our heads and go, you know, how did you possibly think that was the right way to manage diabetes or cancer? Because things will be so different. We will finally shine a lot into these areas that have been so mysterious."
Topol is every bit as optimistic. Maybe more so. "This would be a good time right now to be born," he said.