Mayo Clinic plans to sequence patients’ genomes to personalise care

 

Image via Wikipedia

Mayo Clinic plans to sequence patients’ genomes to personalise care [The Guardian]

Project will give doctors the genetic information they need to choose drugs that work best and minimise side effects

Excerpt from the 27 December article

Doctors have drawn up plans to sequence the full genetic code of thousands of people in a landmark project to personalise their medical care.

Volunteers will have all six billion letters of their genome read, stored and linked to their medical records to help doctors prescribe more effective drugs and other therapies.

The prestigious Mayo Clinic in the US will launch the pilot study early next year as part of an ambitious move towards an era of “proactive genomics” that puts modern genetics at the centre of patient care.

The trial reflects a growing trend in medicine to use genetic information to identify those patients who will benefit most from a drug and those who will respond better to an alternative.

Other medical centres around the world that are thinking of introducing their own whole genome tests will be watching the trial with interest.

The wealth of information locked up in the human genome can help doctors advise patients on lifestyle changes to stave off diseases they are at risk of developing, but in many cases that advice is familiar and generic – for example focusing on healthy eating, regular exercise, drinking in moderation and not smoking.

The Mayo Clinic trial goes further by giving doctors all the genetic information they need to choose drugs that will work best for a particular patient while minimising side effects.

 Read the entire article

 

 

Related articles

• Gene sequencing to give medicine personal touch (smh.com.au)
• Gene sequencing to give medicine personal touch (theage.com.au)
• Mayo Clinic to sequence genome for thousands in personalized medicine embrace (fiercebiotechresearch.com)
• Mayo Clinic plans to sequence patients’ genomes to personalise care (guardian.co.uk)

The Future of Healthcare Presentation on Video

<p><a href=”http://vimeo.com/27159668″>What is the Future of Healthcare?</a> from <a href=”http://vimeo.com/jonmrich”>Jonathan Richman</a> on <a href=”http://vimeo.com”>Vimeo</a&gt;.</p>

From the 12 August 2011 Science Roll

 

Jonathan Richman at Dose of Digital published his presentation that focused on the future of healthcare. He included the personalized, direct-to-consumer genetic companies, e-health, e-patients and many more emerging topics.

IU Personalized Medicine Institute to develop targeted and individualized treatments

IU Personalized Medicine Institute to develop targeted and individualized treatments

David Flockhart, M.D., Ph.D. Director, Indiana Institute for Personalized Medicine

 

 

From the February 9 2011 Eureka news alert

Indiana University has announced a major commitment to research in one of health care’s most promising fields with the creation of the Indiana Institute for Personalized Medicine.

The institute’s members will be drawn from the IU schools of medicine, informatics and nursing, with $11.25 million in funding provided by the School of Medicine, the school’s Department of Medicine, Indiana University-Purdue University Indianapolis, the Indiana Physician Scientist Initiative and the Indiana University Melvin and Bren Simon Cancer. The Indiana Physician Scientist Initiative is funded by a $60 million grant from the Lilly Endowment.

Building on modern research techniques that have made it possible to decipher the genetic code, detect slight genetic differences between patients and determine how those affect the way the body metabolizes drugs, physicians are beginning to be able to select more appropriate treatments for individual patients. Research to make such tools broadly available remains in the early but promising stages, institute leaders said.

“Much of the future of health care is in personalized medicine, meaning more precise targeting of the right medication to the right patient at the right time,” said David Flockhart, M.D., Ph.D., who has been named director of the institute.

“We believe it should lead to cost benefits – it clearly will be better for patients,” said Dr. Flockhart, Harry and Edith Gladstein Professor of Cancer Epidemiology and Genetics and director of the Division of Clinical Pharmacology.

“The Indiana Institute for Personalized Medicine is a not only a logical extension of our academic mission but is also part of our strategic plan to be a global leader in translational medicine,” said David S. Wilkes, M.D., executive associate dean for research affairs at the IU School of Medicine.

Some of the earliest examples of personalized medicine have come in the field of cancer treatment. Oncologists now can test a breast cancer patient’s tumor to determine not only whether it is the type that is stimulated to grow by the hormone estrogen, but whether it is a subtype that can be treated with hormone therapy or another type that requires chemotherapy. Cardiology, pediatrics and obstetrics also will be important areas of focus for the institute, said Dr. Flockhart.

“To identify more precisely which drugs are likely to be more effective — or less effective and more toxic — will have a substantial impact on optimizing health care delivery and rationally curbing costs. In no discipline is this more keenly needed than in cancer care where drugs can be extremely costly and toxic,” said Patrick J. Loehrer Sr., M.D., director of the IU Simon Cancer Center.

IU scientists have been working on related research for at least a decade, but creating an institute “allows you to really jump start research and raise the level participation of an institution in both the laboratory and in the clinic, in a broad range of research interests,” Dr. Flockhart said.

For example, Janet Carpenter, Ph.D., R.N., professor in the School of Nursing and a member of the institute, sees personalized medicine playing a key role in improving the treatment of menopause.

“About 6,000 American women enter menopause every day yet personalized medicine has not been well-integrated into their health care,” she said. “The institute will play a very important role in ensuring that women receive the most appropriate and effective menopausal symptom management therapies.”

Mathew Palakal, Ph.D., associate dean for graduate studies and research at the School of Informatics noted that “research in personalized medicine spans a broad spectrum from systems biology to nanomedicine to gene therapy. Our research in such areas as systems biology, biological network analysis and proteomics, along with our graduate programs in health informatics and bioinformatics, will enable informatics and the School of Informatics to play a significant role in the success of the institute.”

“This science will enable physicians to prescribe the right medicines at the right dosages and intervals to maximize efficacy and prevent unwanted toxicity. It should be a very exciting next 10 years of research,” said D. Wade Clapp, M.D., chairman of the Department of Pediatrics…..

 

 

Enabling Personalized Medicine through Health Information Technology: Advancing the Integration of Information

Enabling Personalized Medicine through Health Information Technology: Advancing the Integration of Information

From the Brookings Institute Executive Summary

With federal officials pursuing the goal of a personal human genome map under $1,000 in five years (White House, 2010), it is possible to envision a future where treatments are tailored to individuals’ genetic structures, prescriptions are analyzed in advance for likely effectiveness, and researchers study clinical data in real-time to learn what works. Implementation of these regimens creates a situation where treatments are better targeted, health systems save money by identifying therapies not likely to be effective for particular people, and researchers have a better understanding of comparative effectiveness (President’s Council of Advisors on Science and Technology, 2010).

Yet despite these benefits, consumer and system-wide gains remain limited by an outmoded policy regime.  Federal regulations were developed years before recent advances in gene sequencing, electronic health records, and information technology.  With scientific innovation running far ahead of public policy, physicians, researchers, and patients are not receiving the full advantage of latest developments.  Current policies should leverage new advances in genomics and personalized medicine in order to individualize diagnosis and treatment.  Similarly, policies creating incentives for the adoption of health information technology should ensure that the invested infrastructure is one that supports new-care paradigms as opposed to automating yesterday’s health care practices.

To determine what needs to be done, a number of key leaders from government, academia, non-profit organizations, and business were interviewed about ways to promote a better use of health information technology to enable personalized medicine.  The interviews focused on policy and operational issues surrounding interoperability, standards, data sharing protocols, privacy, predictive modeling, and rapid learning feedback models.

This paper outlines the challenges of enabling personalized medicine, as well as the policy and operational changes that would facilitate connectivity, integration, reimbursement reform, and analysis of information.   Our health system requires a seamless and rapid flow of digital information, including genomic, clinical outcome, and claims data.  Research derived from clinical care must feed back into assessment in order to advance care quality for consumers.  There currently are discrete data on diagnosis, treatment, medical claims, and health outcomes that exist in parts of the system, but it is hard to determine what works and how treatments differ across subgroups.  Changes in reimbursement practices would better align incentives with effective health care practices……

A related commentary…

A commentary featured in the January 19 issue of The Journal of the American Medical Association (JAMA) from AHRQ Health IT grant recipient, Alex Krist, M.D. calls for the design of a patient-centered health information system that goes beyond the Personal Health Record.  Krist explains that in order for technology to be used, a system should be designed to help patients access health information, interpret data from multiple sources and serve as a tool to facilitate action.  Select to access the abstract.
(For suggestions on how to get this article for free or at low cost, click here)

Related articles

• ‘Digital Divide’ Appears To Exist In Adoption Of Online Personal Health Records

March 28, 2011 4:00:00 PM EDT Share

Despite increasing Internet availability, the ‘digital divide’ (disparities in access to technology) appears to exist among primary care patients adopting an online personal health record, according to a report in the March 28 issue of Archives of Internal Medicine, one of the JAMA/Archives journals. “The personal health record (PHR) is an Internet-based set of tools that allows people to access and coordinate their lifelong health information,” the authors write as background information in the article..

• 
  

The gene-environment enigma & personalized medicine

From the December 3, 2010 news item

Personalized medicine centers on being able to predict the risk of disease or response to a drug based on a person’s genetic makeup. But a study by scientists at Washington University School of Medicine in St. Louis suggests that, for most common diseases, genes alone only tell part of the story.

That’s because the environment interacts with DNA in ways that are difficult to predict, even in simple organisms like single-celled yeast, their research shows.

“The effects of a person’s genes – and, therefore, their risk of disease – are greatly influenced by their environment,” says senior author Barak Cohen, PhD, a geneticist at Washington University School of Medicine. “So, if personalized medicine is going to work, we need to find a way to measure a human’s environment.”

The research is available online in PLoS Genetics….

….

The new research raises many questions: what is a human’s environment and how can it be measured? Is the environment a person lived in during childhood important or the environment he lives in now?

Cohen suspects that any environment that matters is likely to leave a measurable molecular signature. For example, eating a lot of fatty foods raises triglycerides; smoking raises nicotine levels; and eating high-fat, high-sugar foods raises blood sugar levels, which increases the risk of diabetes. The key, he says, is to figure out what are good metabolic readouts of the environment and factor those into statistical models that assess genetic susceptibility to disease or response to medication.

“Measuring the environment becomes crucial when we try to understand how it interacts with genetics,” Cohen says. “Having a particular genetic variant may not have much of an effect but combined with a person’s environment, it may have a huge effect.”

Cohen says he’s not hopeless when it comes to personalized medicine. As scientists conduct ever-larger studies to identify rare and common variants underlying diseases such as cancer, diabetes and schizophrenia, they will be more likely to uncover variants that have larger effects on disease. Even then, however, a person’s environment will be important, he adds.