Howard Jacob, left, and David Bick will lead the team of top research scientists at the HudsonAlpha Clinic for Genomic Medicine.
Imagine that you’re the parent of a child with a rare medical condition. You’ve spent three years and most of your savings bouncing from doctor to doctor, clinic to clinic, treatment to treatment, without uncovering any real answers. Your child’s condition has stumped some of the best practitioners in the state and country.
What if you could stop the questions and the testing and instead, doctors could survey your child’s DNA, in a test as simple as drawing blood?
Through the high-tech analysis of your child’s genome sequence, physicians could pinpoint without a doubt the genetic components of your child’s condition and ensure that the proper treatment plan was prescribed.
This scenario may sound far-fetched, but it’s completely feasible in modern-day Alabama. In November, the Smith Family Clinic for Genomic Medicine opened in Huntsville under the leadership of renowned clinical genomics expert Howard Jacob, Ph.D., who joined HudsonAlpha Institute for Biotechnology as executive vice president for medical genomics and chief medical genomics officer.
With 25 years of experience in genetic sequencing, most recently at the Medical College of Wisconsin in Milwaukee, Jacob is a vital addition to the team at HudsonAlpha, which aims to connect laboratory discoveries with medical improvements for patients.
“Family history has always been an important part of practicing medicine, but we’ve traditionally practiced genetics through an oral history that’s often incorrect and incomplete, because many families don’t talk about their health conditions, ” Jacob says. “With whole genome sequencing, doctors can get better information about patients’ genetics and we can do family history for real.”
Every disease has some genetic basis, he says, and analyzing a person’s genome sequence can offer significant information about his or her health. After purchasing the latest technology for genome sequencing, HudsonAlpha was ready to move into the clinical arena. Because Jacob’s team was ready to expand its genomic work, coming to Huntsville was the perfect fit, he says.
Assembling a Team
In Milwaukee, Jacob served as founding director of the Human and Molecular Genetics Center and professor of physiology at the College of Medicine. He previously served on the faculty at Massachusetts General Hospital and Harvard Medical School. While in Milwaukee, Jacob and his team were the first in the world to use genomic sequencing to save the life of a child. After efforts to diagnose the child’s life-threatening disorder based on symptoms had failed, the team used genomic analysis to identify a single gene mutation. That discovery led to an accurate diagnosis and a successful course of treatment, and the team went on to help diagnose several other genetic diseases by sequencing more than 500 children’s genomes.
“Our team joined HudsonAlpha because it is already a leader in genomics programs nationally and internationally, ” says David Bick, M.D., researcher, geneticist and medical director of the new Genomic Medicine Clinic. “We bring physician expertise and informatics expertise, taking information from the genome sequence and providing it to physicians so they can use it to change care. Our analysis plucks out the medically important information from the genome.”
After founding the first “exome clinic” in the country, which looked at the part of the genome formed by exons, the Milwaukee team came to HudsonAlpha to take their work further. “We are now using the whole genome sequence instead of just exome sequencing, ” Bick says. “There are 20, 000 different genes in humans. In the past, we were looking at the exome, which represents only 1 percent of the information. Now we’re going to look at everything.”
Changing Medical Practice
The use of genomics, Jacob and Bick predict, will ultimately change the way medicine is practiced, helping to solve difficult diagnoses, ensuring proper treatment and, eventually, creating a more robust understanding of the genetic possibilities in our communities. Those results will be accomplished through clinical practice and ongoing research at the HudsonAlpha Clinic.
For instance, one of Jacob’s goals is to establish a scalable process of whole genome sequencing that will allow doctors to use the technology for millions of patients. Already, the team has reduced the genome sequencing interpretation process time from two weeks to four hours, but eventually they hope to analyze and interpret a whole genome sequence in 10 minutes or less.
After the Jacob team’s success with the exome clinic, a number of similar clinics were started across the country, and the team expects similar results after they begin using whole genome sequencing. “We expect that other groups will follow suit in very short order, ” Bick says. “By this time next year, we predict there will be lots of medical centers using this technology.”
And eventually, genome sequencing may become simply routine. “Someday, when every baby’s born, we will sequence their DNA, just like we do an Apgar score now, ” Jacob says. “Then we would start a medical record that’s actually based on family history that has actual data associated with it. We’d then know every single disease gene in our citizenship, which would help us understand everything we’re chasing, what to research and how to improve our medicines.”
Building a Landmark
As the site of the first medical genomics clinic in the country, Huntsville and Alabama are poised to benefit. “Every state basically is competing with every other state to be doing the most cutting-edge things, ” Bick says. “Every medical center around the country is dying to get into [genomic medicine], and Huntsville will lead the way.”
Not only will the local clinic help improve the health of the people of Alabama, but the research and practice that takes place there is portable, so it can be used to treat patients anywhere in the world, Bick says. In addition to contributing to a healthier community, the clinic will attract new research and more high-tech jobs, he adds.
Jacob believes that Huntsville is the perfect place from which to launch this foray into cutting edge medicine.
“People in Huntsville put the men on the moon, so why can’t we be the ones that put genomics into everyday medicine?” he says. “I would love to make Madison County the first county where we really think about sequencing our population. I’d love to make Alabama the first state where we think about sequencing our newborns. Imagine the research and the benefits that would come into this place.”
Nancy Mann Jackson and Dennis Keim are freelance contributors to Business Alabama. Both are based in Huntsville.
Text By NANCY MANN JACKSON • Photos by DENNIS KEIM