Mayo Clinic and TGen team treat deadly pancreatic tumor
SCOTTSDALE, Ariz. - Feb. 16, 2011 - Whole genome sequencing -
spelling out a person's entire DNA genetic code - has moved one
step closer to being a medical option for direct patient
care.
Physicians and researchers at Mayo Clinic in Arizona and the
Translational Genomics Research Institute (TGen) successfully
completed sequencing both a single patients normal and cancer cells
- a tour de force of more than 6 billion DNA chemical bases.
While the whole genomes of several individuals or their cancers
have been sequenced in recent years, this is believed to be among
the first successful application of whole genome sequencing
performed in support of the medical care of a specific cancer
patient.
A male patient with pancreatic cancer was the first patient at Mayo
Clinic to have whole genome sequencing performed on both his tumor
and non-cancerous cells as part of a clinical research project. By
comparing the tumor DNA to the patient's normal DNA, researchers
found genetic changes (mutations) that were important in helping
inform doctors about how best to plan the patient's next treatment.
This was a case of using a definable genetic change that could be
linked to specific treatment, something believed to be a glimpse
into the almost certain future of individualizing cancer
care.
Mayo Clinic administered all the clinical aspects of the research.
TGen performed the genetic sequencing.
While the Mayo-TGen sequencing was done as part of ongoing
research, it signals a major step toward implementation of whole
genome sequencing to support clinic treatment options.
"This is a demonstration of the clinical utility of whole genome
sequencing," said Keith Stewart, M.B., Dean of Research at Mayo
Clinic. "As we do more and more of this, we will move closer and
closer to personalized genetic medicine, which means using genetic
information to minimize or prevent disease."
Details of this research, its results and implications for the
future, will be included in an upcoming scientific paper.
Cost reductions start to make whole genome sequencing
practical
In 2003, after 13 years and nearly $2.7 billion, the
government-funded international Human Genome Project deciphered the
first entire human genome sequence. Continuing technological
advances now allow scientists to evaluate the entire human genome
at a fraction of the time and cost.
"No one thought that this would be possible this soon, and the key
now is to combine all medical and scientific information together,"
said Mitesh J. Borad, M.D., Assistant Professor of Medicine and
oncology specialist at Mayo Clinic. "However, we are still very
early in the process. A lot of questions will come out of this. But
in the long run, this will only help."
Other sequencing techniques - such as genome-wide association
studies - are less expensive tests, but examine only selected
portions of DNA. Whole genome sequencing (WGS) looks at the entire
genome, giving scientists the most comprehensive view of the
potential genetic origins of disease.
"Increasingly we will use information from an individuals DNA
sequence to expand from today's attempts to define disease risk to
actual disease management," said Jeffrey Trent, Ph.D., President
and Research Director at TGen and the former Scientific Director of
the federal government's National Human Genome Research Institute.
"We recognize our lack of complete knowledge of many of the genetic
changes we observe, and how exactly they will align with drugs for
treatment. However, the use of new compounds for some
leukemias and gastrointestinal tumors with defined genetic
alterations is the prototype example of a genetic change matched to
a targeted therapy providing profound clinical benefit. Our
study is one of a handful now underway that is attempting to
identify and then match a gene alteration to targeted
agents."
Uncovering a precise origin of diseases
Performing genomic sequencing on cancerous tumors may provide
clinicians with information to treat cancer more precisely,
especially for patients who are resistant to traditional
treatments. Cancer is a disease often rooted in genetic mutations
and can change a person's DNA. Essentially, WGS distills all the
molecular ingredients that make up a person's genetics so
physicians can pinpoint the root cause of a disease. The knowledge
gained from this research should allow clinicians to design
treatments to address many specific diseases.
"Every step we take in research gets us closer to making this
routine for cancer patients," said Rafael Fonseca, M.D., Deputy
Director, Mayo Clinic Cancer Center in Arizona. "If we look in the
not too distant future, this is a possibility for every cancer
patient."
At this point, start-up costs for WGS are still significant.
Genetic sequencing of tumors requires immense technological and
human resources. Once processes are developed and regularly
implemented, the long-term costs of sequencing are expected to
further drop.
"Whole genome sequencing allows us to dig deeper into the genome
than ever before by providing more information and increasing our
probability of identifying an 'Achilles heel' not previously
recognized by more conventional approaches," said John Carpten,
Ph.D., Director of TGen's Integrated Cancer Genomics Division. "The
long-term hope is that doctors will leverage this information to
inform decisions about patient care in cancer, and beyond.''
# # #
About Mayo Clinic
Mayo Clinic is a non-profit worldwide leader in medical care,
research, and education for people from all walks of life. For more
information, visit www.mayoclinic.org/about/ and
www.mayoclinic.org/news. To request an appointment at Mayo Clinic,
please call 480-422-1490 for the Arizona campus; 904-494-6484 for
the Florida campus; or 507-216-4573 for the Minnesota campus.
Press Contact:
Jim McVeigh
Mayo Clinic Public Affairs
480-301-4368
[email protected]
*
About TGen
The Translational Genomics Research Institute (TGen) is a Phoenix,
Arizona-based non-profit organization dedicated to conducting
groundbreaking research with life changing results. Research at
TGen is focused on helping patients with diseases such as cancer,
neurological disorders and diabetes. TGen is on the cutting edge of
translational research where investigators are able to unravel the
genetic components of common and complex diseases. Working with
collaborators in the scientific and medical communities, TGen
believes it can make a substantial contribution to the efficiency
and effectiveness of the translational process. TGen is affiliated
with the Van Andel Research Institute in Grand Rapids, Michigan.
For more information, visit: www.tgen.org.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]