The future of medicine is closer than you think. Today, scientists are able to learn more than ever about how our genes are likely to affect our health—and the diseases or conditions we may face later in life—thanks to a process known as genome sequencing (in-depth studying of our DNA). And because of technological advances made in recent years, the process has become less expensive, meaning it could soon be an important aspect of everyday care. (A decade ago it cost $3 million to sequence a person’s genes. Today the process runs about $1,000.)
But, as with any emerging technology, genome sequencing is experiencing a few growing pains as it becomes more commonplace.
Despite how quickly genomes can now be sequenced, science has not been as fast in determining how to apply all this new information to everyday patient care. Figuring out how reliable the data is, and finding ways to deliver it in an understandable way to physicians or patients could be difficult hurdles to overcome before genome sequencing becomes a widespread practice.
“The last major barrier to widespread clinical use of DNA sequencing is the creation of accurate, understandable interpretations of sequence findings,” says David Margulies, MD, executive director of The Gene Partnership at Boston Children’s Hospital.
The answer lies in creating standardized methods for analyzing, interpreting, reporting and, ultimately, using genomic information in a clinical setting. To help this process, Boston Children’s recently held the (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information).
Using genome and exome (a subset of one’s genes) sequencing, CLARITY invited researchers from around the world to join a competition to see who could discover the unknown genetic roots of medical disorders faced by three pediatric patients. Then, once the researchers had successfully sequenced the genomes, they were asked to deliver their findings to physicians in a way that’s clear and concise enough to be used in patient care.
The Burnses, Foyes and a third family who wished to remain anonymous, volunteered their genes for the challenge. Rather than testing individual genes, they had the genetic book thrown at them; 30 research teams examined the families’ entire complement of DNA, made up of about 20,000 genes.
Each family has their own reason for participating. Liam Burns died 12 days after birth from multiple heart defects. His extended family has a range of other heart defects, all on the right side and all unexplained. Yet some Burns family members, like Liam’s cousin, are healthy, needing only regular checkups with a cardiologist.
To figure out why some family members have cardiac problems and others do not, members of Liam’s family have been tested for every gene known to cause heart disease similar to theirs. It was a short list. “There are only four known genes for right-sided heart defects,” says Stephanie Burns, Liam’s mother. “They were all negative.”
Hundreds of miles away, 11-year-old Adam Foye has unexplained muscle weakness and fatigue. He can walk only short distances and needs a ventilator at night to support his breathing. He’s tested negative for genes associated with muscle fatigue; as each new one was discovered (some of them at Boston Children’s), Adam was tested for it.
For the Burns family, CLARITY could lead to a prenatal test should they or someone else in the family decide to have another child. When Stephanie found herself pregnant a year ago, instead of being excited, she was scared. “It was terrifying,” she recalls. “It was like flipping a coin as to whether she’d be healthy.” (Her daughter, now 3 months old, has a healthy heart.)
The Foyes hope to have a better understanding of Adam’s muscle weakness. “Once you have a diagnosis, you can have a feel for what the medical risks are,” says Sarah, Adam’s mother. “You’re not just treating as symptoms arise.”
Today, at a special ceremony in San Francisco, the Division of Clinical Genetics at Brigham and Women’s Hospital was awarded the top CLARITY prize for their ability to process large amounts of genome data and clearly explain their findings. While the future of this exciting new medicine is still unwritten, those at the forefront are excited for the possibilities.
“We’ve been celebrating, we’ve been waiting for this answer for 11 years,” says Sarah. “It doesn’t mean we know the treatment now, but it’s pointing us in the right direction and we can cross other possibilities off the list.”
Read more about this exciting new technology in our sister blog, Vector: