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Vol. LXIII, No. 12
June 10, 2011
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STEP Forum Looks at DNA Sequencing and Its Role in Patient Care

Dr. Laura Lyman Rodriguez
Dr. Laura Lyman Rodriguez

Our genes can tell us a lot of things. They can tell us the likelihood of developing cancer or heart disease. They can tell us how we might react to drugs and treatments. And now, thanks to new advances in DNA sequencing, our genes can tell us more than ever before.

The speakers at a recent Staff Training in Extramural Programs forum, “Knowing Our DNA Sequence: What It Means for You and Me,” used the image of water gushing from a hose to demonstrate the vast amount of information now available based on a person’s genome—the DNA sequence that makes each of us unique.

“Ultimately, we want to help the physician understand what this information means, help guide our care and make the information meaningful so it can be implemented and used in clinics,” said Dr. Laura Lyman Rodriguez, director, Office of Policy, Communications and Education, National Human Genome Research Institute.

The forum explored genome sequencing technology and how it fits into “personalized medicine,” which Rodriguez defined as “health care tailored to the individual.”

“We’ve always been doing personalized medicine,” said Dr. John Belmont, professor in the department of molecular and human genetics at Baylor College of Medicine. “And genomics is a new, powerful tool for achieving careful and improved care.”

What does genomics bring to the table? Prevention, improved health through targeted medicine and reduced cost of care, according to Belmont.

He gave examples of how genomics is contributing to disease prevention. One recent project combined known risk factors (such as family history, lifestyle and age) together with biomarkers from genomic testing to refine screening for atherosclerosis, the blocking of the arteries that is typically the cause of heart disease.

Dr. Marc Williams Participants at the recent STEP session on DNA and medicine included (from l) Flavia Facio, Williams, Rodriguez, Dr. John Belmont, Dr. Sara Hull and Rebecca Fisher.
Dr. Marc Williams of the Intermountain Healthcare Genetics Institute in Salt Lake City pointed out obstacles to translation of clinical research.

Participants at the recent STEP session on DNA and medicine included (from l) Flavia Facio, Williams, Rodriguez, Dr. John Belmont, Dr. Sara Hull and Rebecca Fisher.



Flavia Facio, a genetic counselor at NHGRI, also discussed atherosclerosis in relation to her work on ClinSeq, a large-scale genome sequencing project that seeks to uncover the gene variations behind the disease.

Another study showed that one gene variation can determine a person’s reaction to warfarin, a commonly prescribed anticoagulant drug. This information could help eliminate the estimated 43,000 yearly emergency room visits due to warfarin complications.

Dr. Marc Williams, of the Intermountain Healthcare Clinical Genetics Institute in Salt Lake City, pointed out that there are obstacles in moving science from the lab to actual improved patient care. “Implementation is a problem. It takes too long. The system is resistant to change even though the science is there,” he said.

Doctors often do not have time to go out and research every disease and health problem. In light of this, Williams suggests the “intelligent use of electronic health records” in the form of an automated system that would alert physicians about potential health problems in their patients. Such a system would eliminate the step of doctors needing to actively seek out and then interpret genomic data.

There are ethical issues to be aware of as well. “Genomic research is not yet equivalent to genomic medicine,” said Dr. Sara Hull, director of the bioethics core, NHGRI.

Using hypothetical scenarios, Hull described how the medical community must take into consideration issues like the role of race and ethnicity and fair access to information.

Currently, it costs around $20,000 to have your genome mapped and scientists are working on getting the price down to $1,000. Once the price drops, the information will be more readily available to everyone, but it will still take much longer for researchers and clinicians to fully understand the meaning of the vast amount of information contained in an individual’s genomic sequence.

Baylor’s Belmont said, “Genomics is a new, powerful tool for achieving careful and improved care.”

Baylor’s Belmont said, “Genomics is a new, powerful tool for achieving careful and improved care.”

Photos: Ernie Branson

Rebecca Fisher, a patient advocate at the Clinical Center and breast cancer survivor, spoke last and described her experience of being “one of personalized medicine’s earliest experiments.” She described how her family, which has a history of breast cancer going back several generations, had to fend for themselves for several decades in finding information about cancer and figuring out if they were at risk of developing it.

The day the “secret sauce” of physicians was no longer secret, according to Fisher, was “June 24, 1997—the day Medline became available on the Internet.” With the advent of online searching, she and many other knowledge- seeking individuals became advocates for their own health, often serving as educators to their physicians.

Fisher believes all the information online, and within each of our DNA sequences, has the potential to change lives for the better. She emphasized the importance of genomic research being carried out by scientists at NIH. “Every single moment of your work here matters to an individual somewhere.” NIHRecord Icon


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