Posts (102)

Feb 26, 2015 · World Rare Disease Day 2015

 

Following the Rare Disease Day theme Living with a Rare Disease, the 2015 video poignantly recognises the millions of families, friends and carers whose daily lives are impacted by rare diseases.

 

 

A big round of applause goes out to the many individuals involved in the creation of the video. Special thanks to video participants RitaPietro and Beatrice who are each living with a rare disease, as well as their family members who accompanied them to the filming of the video. Thanks also to UNIAMO, the Italian national rare disease alliance, for making the video production possible and to director Carlo Hintermann, animators Lulu Cancrini and Marco Varriale and all of their team for their in-kind contribution of the creation and production of the video.

The cooperation between all those involved in this year’s video is symbolic of the unity and solidarity that families, professionals, policy makers, researchers and industry are demonstrating by living day-by-day, hand-in-hand with rare disease patients. Get involved today!

Be a part of the Rare Disease Day momentum – share the Rare Disease Day 2015 video and show the world how to live in solidarity day-by-day, hand-in-hand.

 

 

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Feb 18, 2015 · Biobanking and Precision Medicine

 

Biomarker

 

Mayo Clinic is excited about the national focus on individualized medicine and what the future holds. More than half ($130 million) of the total $215 million budget request, put forth by President Obama’s Precision Medicine Initiative, is for a national biobanking initiative that draws on existing collections across the country. Mayo Clinic has among the country’s largest collections through the Mayo Clinic Biobank and the Biorepositories Program.

Mayo Clinic and the Mayo Clinic Center for Individualized Medicine have made a significant commitment to building a scalable biorepository infrastructure, which includes multiple specimen processing laboratories and centralized storage.

One of these collections is the Mayo Clinic Biobank, a collection of blood samples and health information donated by Mayo Clinic patients. The Biobank collects samples and health information from patients and other volunteers, regardless of health history. The Biobank was established at Mayo Clinic’s campus in Rochester, Minn., and recruitment began in April 2009. Since then, the Biobank has expanded to Mayo Clinic’s campuses in Jacksonville, Fla. and Scottsdale, Ariz., in addition to the Mayo Clinic Health System. The Biobank aims to enroll 50,000 Mayo Clinic patients by 2016 to support a wide array of health-related research studies at Mayo Clinic and other institutions.

Steve Thibodeau, David F. and Margaret T. Grohne Director, Biorepositories Program facts about the Mayo Clinic Biobank.
 


 
 
 
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Feb 10, 2015 · Building a National Cohort for Precision Medicine

 

NIH Precision Medicine Workshop

 

With the State of the Union announcement of the $215 Million Precision Medicine Initiative, one of the most exciting aspects of the Initiative was the call for a national cohort for research and genomic sequencing.

The National Institutes of Health (NIH) will be hosting a two-day workshop starting tomorrow, February 11th, of which Richard Weinshilboum, M.D., director of the Pharmacogenomics Program at the Center for Individualized Medicine, will be attending.

The NIH workshop will discuss the opportunities and challenges around building a large research cohort focused on precision medicine. There will be several leading experts from many disciplines and sectors, and the event will be webcast live both days.

Four working groups from many scientific disciplines and sectors were assembled in advance of the workshop to identify challenges and opportunities related to building a large research cohort and to outline concrete steps to meet these challenges. The working group members brought expertise in epidemiology, genomics, privacy, health information, and mobile technologies. These reports reflect the views of the authors and were designed to aid discussion at the NIH Workshop and do not represent official NIH findings.

Read the White Papers:

 

You can follow along online via the webcast here, and on Twitter with #PMINetwork.

 

 

 

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Jan 30, 2015 · National Unveiling of Precision Medicine Initiative

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Former Medical Director of the Center for Individualized Clinic, Gianrico Farrugia, is currently in the East Room of the White House awaiting the unveiling of the Precision Medicine Initiative. Mayo Clinic is excited about the national focus on individualized medicine, and what the future holds with this $215 million investment.

The Precision Medicine Initiative proposes a joint investment into the National Institutes of Health (NIH), the Food and Drug Administration (FDA) and the Office of the National Coordinator for Health Information Technology (ONC).

 

 

Objectives of the Precision Medicine Initiative:

  • Better Treatment for Cancer: The National Cancer Institute (NCI) will accelerate the design and testing of effective, tailored treatments for cancer by expanding genetically based clinical cancer trials, exploring fundamental aspects of cancer biology, and establishing a national “cancer knowledge network” that will generate and share new knowledge to fuel scientific discovery and guide treatment decisions.
  • Creation of a Voluntary National Research Cohort: The NIH in collaboration with other agencies and stakeholders, will launch a national, patient-powered research cohort of one million or more Americans who volunteer to participate in research.  Participants will be involved in the design of the Initiative and will have the opportunity to contribute diverse sources of data—including medical records; profiles of the patient’s genes, metabolites (chemical makeup), and microorganisms in and on the body; environmental and lifestyle data; patient-generated information; and personal device and sensor data.  Privacy will be rigorously protected.
  • Commitment to Protecting Privacy: To ensure from the start that this Initiative adheres to rigorous privacy protections, the White House will launch a multi-IMG_0204stakeholder process with HHS and other Federal agencies to solicit input from patient groups, bioethicists, privacy, and civil liberties advocates, technologists, and other experts in order to identify and address any legal and technical issues related to the privacy and security of data in the context of precision medicine.
  • Regulatory Modernization: The Initiative will include reviewing the current regulatory landscape to determine whether changes are needed to support the development of this new research and care model, including its critical privacy and participant protection framework.  As part of this effort, the FDA will develop a new approach for evaluating Next Generation Sequencing technologies — tests that rapidly sequence large segments of a person’s DNA, or even their entire genome. The new approach will facilitate the generation of knowledge about which genetic changes are important to patient care and foster innovation in genetic sequencing technology, while ensuring that the tests are accurate and reliable.
  • Public-Private Partnerships: The Obama Administration will forge strong partnerships with existing research cohorts, patient groups, and the private sector to develop the infrastructure that will be needed to expand cancer genomics, and to launch a voluntary million-person cohort.  The Administration will call on academic medical centers, researchers, foundations, privacy experts, medical ethicists, and medical product innovators to lay the foundation for this effort, including developing new approaches to patient participation and empowerment.  The Administration will carefully consider and develop an approach to precision medicine that ensures consumers have access to their own health data – and to the applications and services that can safely and accurately analyze it – so that in addition to treating disease, we can empower individuals and families to invest in and manage their health.

 

More to come as it happens.

 

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Jan 28, 2015 · How the President's Precision Medicine Plan Might Help You

Precision Medicine

 

Article Originally Feature on Washington Post by Lenny Bernstein

 

PRECISIONMEDICINE

 

In his hour-long State of the Union address Tuesday night, President Obama spent a few seconds announcing a “Precision Medicine Initiative,” but did little to explain what he has in mind. Background materials distributed by the White House show that Obama wants to invest in this “innovative field that provides healthcare professionals with tools, knowledge and treatments to tailor care to a person’s unique characteristics–such as their genetic makeup.”

Here’s a primer on “precision medicine,” a term you’ll doubtless hear more about in years to come.

What is precision medicine?

Clinically, experts don’t even agree on a single term for it. But “individualized,” “personalized,” and “precision,” medicine are all used to convey the same idea, according to Gianrico Farrugia, former director of the Mayo Clinic’s Center for Individualized Medicine:

 

“rather than treating a person as [part of] a group, treat the person as an individual, based on [his or her] own genetic material, to enable us to provide individualized, personalized and precise care.”

On a grander scale, said Keith Yamamoto, vice-chancellor for research at UC San Francisco, precision medicine envisions collecting enormous amounts of information — not just from humans, but from other species and from basic science research — and crunching that data to identify ways to diagnose and treat individuals.

 

Read the full article.

 

 

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Jan 26, 2015 · New Exam For Dense Breast Tissue Nearly Quadruple Detection For Invasive Breast Cancers

A new breast imaging technique pioneered at Mayo Clinic nearly quadruples detection rates of invasive breast cancers in women with dense breast tissue, according to the results of a major study published this week in the American Journal of Roentgenology.

 

Molecular Breast Imaging (right) detected 3.6 times as many invasive cancers as digital mammography (left) in the latest study of more than 1,500 women with dense breast tissue. Results are published in the American Journal of Roentgenology.

Molecular Breast Imaging (right) detected 3.6 times as many invasive cancers as digital mammography (left) in the latest study of more than 1,500 women with dense breast tissue. About half of screening-age women have dense breast tissue, which digital mammography renders the same whitish shade as tumors. Results are published in the American Journal of Roentgenology.

Molecular Breast Imaging (MBI) is a supplemental imaging technology designed to find tumors that would otherwise be obscured by surrounding dense breast tissue on a mammogram. Tumors and dense breast tissue can both appear white on a mammogram, making tumors indistinguishable from background tissue in women with dense breasts. About half of all screening-aged women have dense breast tissue, according to Deborah Rhodes, M.D., a Mayo Clinic Breast Clinic physician and the senior author of this study.

MBI increased the detection rate of invasive breast cancers by more than 360 percent when used in addition to regular screening mammography, according to the study. MBI uses small, semiconductor-based gamma cameras to image the breast following injection of a radiotracer that tumors absorb avidly. Unlike conventional breast imaging techniques, such as mammography and ultrasound, MBI exploits the different behavior of tumors relative to background tissue, producing a functional image of the breast that can detect tumors not seen on mammography.

The study, conducted at Mayo Clinic, included 1,585 women with heterogeneously or extremely dense breasts who underwent an MBI exam at the time of their screening mammogram.

 

  • Of these women, 21 were diagnosed with cancer — five through mammography alone (24 percent or 3.2 cancers per 1,000 women) and 19 with mammography plus MBI (91 percent or 12 cancers per 1,000 women).
  • Particularly notable was the four-fold increase in detection of invasive cancers (1.9 invasive cancers per 1,000 women with mammography and 8.8 per 1,000 women with mammography plus MBI). Detection rates for noninvasive cancers were not significantly different.
  • The risk of incurring an unnecessary biopsy because of a false positive exam increased in this study, from 1 in 100 women with mammography to 4 in 100 women with mammography plus MBI. (By comparison, recent studies have shown that alternative supplemental screening techniques, such as ultrasound and MRI, generate about eight additional unnecessary biopsies per 100 women.)

“The finding that MBI substantially increases detection rates of invasive cancers in dense breasts without an unacceptably high increase in false positive findings has important implications for breast cancer screening decisions, particularly as 20 states now require mammography facilities to notify women about breast density and encourage discussion of supplemental screening options,” says Dr. Rhodes. “These findings suggest that MBI has a more favorable balance of additional invasive cancers detected versus additional biopsies incurred relative to other supplemental screening options.”

“Recent studies have reported supplemental cancer detection rates of 1.9 per 1,000 women screened with automated whole breast ultrasound and 1.2 to 2.8 per 1,000 women screened with digital breast tomosynthesis, so our finding of an additional 8.8 cancers per 1,000 women makes MBI a very compelling option for women who elect supplemental screening,” says Dr. Rhodes.

Michael O’Connor, Ph.D., a Mayo Clinic scientist and inventor of the MBI technology, calls this latest study a major milestone for both safety and efficacy of the imaging device, largely because of the high detection rates achieved through low radiation exposure.

“This new study is important because it incorporates many of the advances in MBI pioneered here at Mayo Clinic and shows that studies can be performed safely, with low radiation exposure to the patient,” says Dr. O’Connor. “This means MBI is safe and effective as a supplemental screening tool.”

“We are very excited about what MBI can offer women with dense breasts,” says Amy Conners, M.D., chair of Mayo Clinic’s Breast Imaging Division and a co-author of this study. “While we endorse annual mammography for all women age 40 and over, and the addition of annual MRI for women at high risk, MBI fills an important gap for supplemental screening in women with dense breasts who are not otherwise at high risk.”

The study was made possible by a grant from the Susan G. Komen Foundation and a Clinical and Translational Science Awards (CTSA) grant from the National Center for Advancing Translational Sciences (NCATS), a component of the National Institutes of Health (NIH).

 

 

Individualizing Medicine Conference 2015

 

 

 

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Jan 22, 2015 · The President's Precision Medicine Plan & How it Might Help You

 

In his hour-long State of the Union address Tuesday night, President Obama spent a few seconds announcing a “Precision Medicine Initiative,” but did little to explain what he has in mind. Background materials distributed by the White House show that Obama wants to invest in this “innovative field that provides healthcare professionals with tools, knowledge and treatments to tailor care to a person’s unique characteristics–such as their genetic makeup.”Here’s a primer on “precision medicine,” a term you’ll doubtless hear more about in years to come. 

What is precision medicine?

Clinically, experts don’t even agree on a single term for it. But “individualized,” “personalized,” and “precision,” medicine are all used to convey the same idea, according to Gianrico Farrugia, former director of the Mayo Clinic’s Center for Individualized Medicine: “rather than treating a person as [part of] a group, treat the person as an individual, based on [his or her] own genetic material, to enable us to provide individualized, personalized and precise care.”

On a grander scale, said Keith Yamamoto, vice-chancellor for research at UC San Francisco, precision medicine envisions collecting enormous amounts of information — not just from humans, but from other species and from basic science research — and crunching that data to identify ways to diagnose and treat individuals.

 

What does that mean for me, in a practical sense?

Let’s say you have cancer. By analyzing the makeup of a tumor, doctors may be able to better choose which drug to use, rather than employing a hit-and-miss approach based on knowledge of your form of cancer. The use of Tamoxifen for one form of breast cancer is a good example. And they can track the evolution of the tumor over time, to determine whether you need a different drug. If you need medication for another kind of illness, analyzing part of your genome might allow physicians to avoid ineffective or even dangerous drugs that interact poorly with your personal makeup.

All of this followed the completion of the Human Genome Project in 2003. As my colleague Brady Dennis wrote last year: “For reasons scientific and economic, one-size-fits-all blockbuster drugs are giving way to treatments tailored to individuals’ genetic makeups and aimed at narrow subsets of broader diseases.”

Other possible applications: alternatives to opioids for pain relief, drugs for specific psychological illnesses, a drug for a small sliver of the people who suffer from cystic fibrosis.

 

What if I’m healthy? Can precision medicine do anything for me?

If you’re planning to have children, genetic testing can reveal their chances of inheriting certain diseases. That’s been around for a while. But according to the Web site at UC San Francisco, which hosted a summit on precision medicine in 2013, the hope is that such individualized testing might one day be used to predict, say, whether a woman is likely to develop certain forms of breast cancer or other conditions.

But then you may be confronted with other cost-benefit decisions. If your doctor can tell you with certainty that you’ll get Alzheimer’s Disease and when onset may begin, would you want to know?

 

The whole thing sounds really expensive. Is it covered by insurance?

For now, insurance companies are, by and large, agreeing to pay for expensive drugs that target a small number of people. For instance, they are largely covering Kalydeco, a drug for about 4 percent of the estimated 30,000 U.S. cystic fibrosis patients, which costs about $300,000 a year per patient. But they are rebelling at covering the cost of Sovaldi, a new treatment for hepatitis C, which runs about $84,000 for a 12-week treatment — $1,000 per pill. Even so, pharmaceutical companies increasingly are investing in such medications.

But as such treatments proliferate, many worry that insurance coverage simply won’t be able to keep up. For cancer treatment, the most common use of precision medicine, coverage varies by insurance company, Farrugia said.

For predictive care, coverage is rare, he said.

Yamamoto points out that at some point, diagnosing and treating people this way will save money, by eliminating wasteful spending on ineffective tests and treatment.

 

What is government’s role?

Providing money, of course, for everything from research to subsidizing new technology, and testing and approving new drugs. Government also might establish databases for all the information yielded by the millions upon millions of genomic tests and other research. Think of what we might be able to learn when researchers can compare all that information and recognize patterns. And government might be the one place where all those samples can be stored.

 

Whoa, I don’t know whether I want the government to have access to my genetic information.

Privacy and security questions have been raised almost since the beginning of this effort. Experts say they must be worked out if people are to feel comfortable enough to allow the work to proceed.

 

 

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Jan 21, 2015 · 5 Genomic Innovations

Individualized medicine, also known as personalized medicine or precision medicine, means tailoring diagnosis and treatment to each patient to optimize care. Patients have experienced this kind of care for 150 years at Mayo Clinic, where teams of specialists have always worked together to find answers.

Now, at a time when we can routinely sequence a whole human genome and better understand the function of genes, individualized medicine at Mayo Clinic has been taken to the molecular level. We’re using genomics and other sequencing technologies to more effectively and precisely diagnose, treat, predict and eventually prevent disease.

And that’s what the Center for Individualized Medicine is all about — solving the clinical challenges of today and tomorrow by bringing the latest discoveries from the research laboratory to your doctor’s fingertips in the form of new genomics-based tests and treatments.

 

  1. The Individualized Medicine Clinic. For patients with particularly difficult cancers and people with rare and undiagnosed diseases, the Individualized Medicine Clinic uses whole exome sequencing to better understand tumors and disease mechanisms.
  2. Drug-Gene Alerts. Every time Mayo Clinic providers order a prescription for their patients, an automated safety system scours the medical record for potential adverse reactions or sub-optimal dosing based on the latest genomic information. Results suggest that providers alter dosage or find a substitute medication to improve patient safety and care efficiency. These rules are active for 12 common medications, including pain relievers and statins, with more currently under development.
  3. Predictive Genomics. A growing number of patients are participating in the Predictive Genomics Service of the Individualized Medicine Clinic, which helps patients and providers anticipate response to a variety of medications and the possibilities of disease onset later in life and in family planning.
  4. Laboratory testing. Lab-developed tests are improving care dramatically through Mayo Medical Laboratories. Examples include a new cancer test that evaluates 50 genes known to affect how patients respond to chemotherapy and the RAS/RAF Targeted Gene Panel Test by Next Generation Sequencing, which evaluates tumor mutations known to affect response or resistance to different chemotherapies.
  5. Breast Cancer Treatment. The Breast Cancer Genome-Guided Therapy (BEAUTY) Study uses several of the latest sequencing technologies and mice avatars to transform our understanding of breast cancer genomics and how the disease responds to chemotherapy. In addition to sequencing tumors before and after treatment, tumors are transplanted into mouse avatars that carry the individual patient’s disease. Should a woman’s cancer return after chemotherapy and surgery, researchers and physicians will use the avatars to identify the optimal treatment options for that particular patient.

 

 

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