For years, Alexis Beery, 15, relied on daily doses of an incredibly potent inhalant and injections of adrenaline just to stay alive.
Now she and her similarly sick twin brother, Noah, have gone from racing to the ER on a regular basis to racing to high-school track and volleyball practice — thanks to treatment designed specifically for their unique genetic makeup.
Gene-specific treatments have been used for years for a handful of diseases. Women with breast cancer who are found to carry the BRCA1 or BRCA2 genetic mutation, for instance, can undergo a regimen tailored for that specific gene mutation.
But with the advent of cheaper, better gene-sequencing technology, geneticists say personalized medicine will soon become as common as a blood test. Instead of treating “cancer,” doctors will treat “Bob’s cancer.”
“We are actually seeing the first fruits of the Human Genome Project,” says Dr. David A. Wheeler, an associate professor of Baylor College of Medicine’s Human Genome Sequencing Center, in Houston.
The Beery twins were diagnosed with cerebral palsy when they were 2 years old, but that turned out to be an incomplete diagnosis, says their mother, Retta, of San Diego.
When Alexis turned 13, years of night coughs turned into an inability to breath. If the twins were going to get better, doctors needed to understand what was really wrong.
Retta’s husband, Joe, works at Life Technologies, a biotech company that helps fund genetic-testing studies at Baylor College’s center. Baylor used sequencing technology to determine that the twins carried mutations in a gene that caused their health problems.
The discovery led to a relatively simple modification — adding to their medicine regimen an amino acid that can be bought over the counter — and now the siblings are so healthy, active and intelligent, their mother says, “You would never know they had any problems at all.”
Now Baylor is helping Texas Children’s Cancer Center to sequence tumor and blood samples from all young cancer patients to better understand each individual child’s tumor and develop more-targeted therapies.
Doctors at the University of Iowa use gene sequencing to determine which deaf children would likely benefit from hearing aids or cochlear implants and help slow the progression of blindness in children found to have the gene for a specific degenerative disease.
And in New York, novel treatments are expected to emerge from the New York Genome Center, a collaboration of 11 academic medical centers and research organizations, which is expected to open its doors at the end of the year in Manhattan.
One of the most accessible innovations, exome sequencing, is available now to patients enrolled in specific studies at hospitals such as New York Presbyterian Hospital and Baltimore’s Kennedy Krieger Institute. Doctors at Kennedy Krieger were recently able to use a diagnostic test to uncover why two of Cathy Rzepkowski’s four children were severely mentally disabled.
For two decades, Rzepkowski blamed herself. Maybe the showers she took while pregnant were too hot. Maybe the carpet she chose for her new home exposed her to strange toxins.
Thanks to sequencing, Rzepkowski finally has an answer. Doctors discovered a rare recessive genetic mutation in both Cathy and her husband, Kenneth, that caused their sons Kevin, 25, and Keith, 23, to develop cerebral palsy, autism and other mental disorders.
“Did I think I was going to get an answer? Absolutely not,” says Rzepokwski, of Baltimore. “When they told me, I’m telling you, I could cry.”
“This is personal genomic medicine,” says Elizabeth Chao, director of translational medicine at Ambry Genetics, which developed the sequencing test clinicians used for the Rzepowskis. “It’s going to be done better in the future, but it’s here now.”
“For those of us in genetics, this has been something we’ve thought about for so long, and to be able to do it and do it now is amazing,” Chao says.
Among the biggest hurdles to genomic medicine continues to be cost (about $50,000) and the vast storage capacity needed to house the information.
Chao’s team circumvented both issues by using exome sequencing, which only focuses on the exon, the protein-coding regions of the genome thought to be involved in disease. The human genome is 3 billion base pairs deep. Meanwhile, our exomes only represent 1% of that. Exome sequencing costs only about $4,000.
Several companies, meanwhile, are racing to provide whole genome sequencing for even less than that.
Affordability will contribute to the mainstreaming of these tests — something that has ethicists, geneticists and politicians on edge.
“The risk is finding things you’re not looking for, like a predisposition to cancer or Alzheimer’s disease. As clinicians we want to keep our eye on the target: What is the cause of my child’s disability,” for instance, said Julie Cohen, a genetic counselor at Kennedy Krieger who worked with the Rzepkowski family. “We don’t have the capability to interpret and counsel about all the other things we might find.”
But patients and their families who have spent their lives in the dark say the information can be life-changing. The knowledge that the Rzepkowski boys’ disorders were the result of a rare recessive genetic mutation unlikely to be passed on to the next generation has given their newlywed older sister, Chrissy, the confidence to start a family.
And in San Diego, personal genomic medicine has given two teens the ability to live normal, active lives.
“Personal genomics will help people function at a higher level. ‘Live life to the fullest,’ is my daughter’s motto,” Retta Beery says. “That’s what we all want, and personalized medicine is going to get us there.”