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!
Tag it EASI – a new method for accurate protein analysis
19.06.2018 | Max-Planck-Institut für Biochemie
How to track and trace a protein: Nanosensors monitor intracellular deliveries
19.06.2018 | Universität Basel
Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...
Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.
Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...
The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.
Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.
An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.
Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...
Light detection and control lies at the heart of many modern device applications, such as smartphone cameras. Using graphene as a light-sensitive material for...
13.06.2018 | Event News
08.06.2018 | Event News
05.06.2018 | Event News
19.06.2018 | Physics and Astronomy
19.06.2018 | Life Sciences
19.06.2018 | Physics and Astronomy