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.
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 a targeted agents."
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:
Steve Yozwiak | EurekAlert!
Symbiotic bacteria: from hitchhiker to beetle bodyguard
28.04.2017 | Johannes Gutenberg-Universität Mainz
Nose2Brain – Better Therapy for Multiple Sclerosis
28.04.2017 | Fraunhofer-Institut für Grenzflächen- und Bioverfahrenstechnik IGB
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
28.04.2017 | Event News
20.04.2017 | Event News
18.04.2017 | Event News
28.04.2017 | Medical Engineering
28.04.2017 | Earth Sciences
28.04.2017 | Life Sciences