SAVE THE DATE
Mark your calendar for October 3-4, 2012 and join us at the Blackwell Inn on the campus of The Ohio State University for The 2012 Johanna and Ralph DeStefano Personalized Health Care Conference.
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Playback the 2011 Personalized Health Care Conference
Author Archives: Sherri L. Kirk
A new study finds that certain changes in blood vessels in the eye’s retina can be an early warning that a person is at increased risk forglaucoma, an eye disease that slowly robs people of their peripheral vision. Using diagnostic photos and other data from the Australian Blue Mountains Eye Study, the researchers showed that patients who had abnormally narrow retinal arteries when the study began were also those who were most likely to have glaucoma at its 10-year end point. If confirmed by future research, this finding could give ophthalmologists a new way to identify and treat those who are most vulnerable to vision loss from glaucoma. The study was recently published online byOphthalmology, the journal of the American Academy of Ophthalmology.
Open-angle glaucoma (OAG), the most common form of the disease, affects nearly three million people in the U.S[i] and 60 million worldwide.[ii] Vision loss occurs when glaucoma damages the optic nerve, the part of the eye that transmits images from the retina to the brain. Unfortunately, because glaucoma does not have symptoms, many people don’t know they have the disease until a good portion of their sight has been lost. Early detection is critical to treating glaucoma in time to preserve vision.
The findings of the new study, led by Paul Mitchell, M.D., PhD, of the Centre for Vision Research, University of Sydney, supports the concept that abnormal narrowing of retinal blood vessels is an important factor in the earliest stages of OAG. Tracking nearly 2,500 participants, the study found that the OAG risk at the 10-year mark was about four times higher in patients whose retinal arteries had been narrowest when the study began, compared with those who had had the widest arteries.
Johns Hopkins researchers have developed a new way of looking at standard MRI scans that more accurately measures damage to the blood-brain barrier in stroke victims, a process they hope will lead to safer, more individualized treatment of blood clots in the brain and better outcomes.
The blood-brain barrier is a unique shielding of blood vessels that limits the passage of molecules from the blood stream into the brain. Without it, the brain is open to infection, inflammation and hemorrhage. Ischemic stroke patients are at risk of bleeding into the brain when there is damage to the barrier. By more accurately identifying areas of damage, the researchers, in a report published in the journal PLOS ONE, say they hope to use their new tool to predict and reduce the risk of complications from clot-dissolving drugs used to treat this kind of stroke.
“A better characterization of blood-brain barrier damage opens the door to new approaches to treating stroke patients,” says study leader Richard Leigh, M.D., an assistant professor of neurology and radiology at the Johns Hopkins University School of Medicine. “We want to help patients, but we need to make sure our treatments don’t make things worse.”
In an ischemic stroke, a blood clot is stuck in a vessel, cutting off blood flow to a portion of the brain, which will begin to die the longer the clot remains. When patients come to the hospital within three-to-four hours of suffering an ischemic stroke, doctors quickly move to give them the intravenous clot-busting drug tPA, hoping that it will dissolve the clot without causing additional damage.
Patients with Diabetes May Not Receive Best Treatment to Lower Heart Disease Risk; One Size Doesn’t Fit All
For some people with diabetes, there may be such a thing as too much care.
Traditional treatment to reduce risks of heart disease among patients with diabetes has focused on lowering all patients’ blood cholesterol to a specific, standard level. But this practice may prompt the over-use of high-dose medications for patients who don’t need them, according to new research from the VA Ann Arbor Healthcare System (VAAAHS) and the University of Michigan Health System.
The study encourages a more individualized approach to treatment that adjusts treatment according to the patient in order to improve the quality of care. The findings appear in Circulation: Cardiovascular Quality and Outcomes.
Authors also suggest that blanket goals routinely used to lower heart attack risks may unnecessarily expose some patients to potential adverse side effects of high-dose medications. Researchers also note that when these standard goals are used to assess whether a health provider delivered high quality care, they may encourage overly aggressive treatment.
Scientists at the Johns Hopkins Kimmel Cancer Center have combined the ability to detect cancer DNA in the blood with genome sequencing technology in a test that could be used to screen for cancers, monitor cancer patients for recurrence and find residual cancer left after surgery.
“This approach uses the power of genome sequencing to detect circulating tumor DNA in the blood, providing a sensitive method that can be used to detect and monitor cancers,” says Victor Velculescu, M.D., Ph.D., professor of oncology and co-director of the Cancer Biology Program at Johns Hopkins.
A report describing the new approach appears in the Nov. 28 issue of Science Translational Medicine. To develop the test, the scientists took blood samples from late-stage colorectal and breast cancer patients and healthy individuals and looked for DNA that had been shed into the blood.
The investigators applied whole-genome sequencing technology to DNA found in blood samples, allowing them to compare sequences from cancer patients with those from healthy people. The scientists then looked for telltale signs of cancer in the DNA: dramatic rearrangements of the chromosomes or changes in chromosome number that occur only in cancer cells.
Molecular, or personalized, medicine uses genetic information to determine the right treatment for the right patient at the right time.
By studying a patient’s genetic makeup, researchers can identify their susceptibility to disease, predict their response to a particular drug and match the patient with a personalized therapy.
Challenges with existing molecular medicine programs include:
- The amount of time that it takes to develop a new drug or treatment.
- 70 percent of all medications prescribed to children have been tested only in adults. (Clinical studies in children lead to a better understanding of the specific differences between children and adults, thus leading to the development of safer, more effective and age-appropriate treatments.)
- Research and development of novel treatments for pediatric diseases have fallen short over past decades.
An all-new edition of Genomic and Personalized Medicine promises to be a one-stop shop for doctors and other health professionals as they face the rapid growth of genetic and genomic testing in the clinic. The comprehensive resource volumes edited by the Duke Institute for Genomes Sciences & Policy’s Geoffrey Ginsburg and Huntington Willard are one solution to an increasingly obvious problem: the healthcare workforce on the whole lacks the background to make personalized medicine a reality for patients.
The two-volume set is now available for purchase from Elsevier and Amazon.com as either a hard copy or Kindle Edition. The books can also be purchased electronically in whole or as individual chapters (for just over $30 a piece) from Science Direct, with institutional bulk rates available.
“These books directly connect to our goal of making the genome relevant to our patients and to society,” Ginsburg said. “We took this project on because we saw a need to pull together all these bits of fragmented genomic information that could have a bearing on health and healthcare and put them in one place. There is nothing else like it.”
The first book in the two-volume set covers everything from essential genome technologies and approaches to their ethical and societal implications and their translation to personalized medicine in the clinic. The second volume presents the latest developments in disease-based genomic and personalized medicine, with sections dedicated to cardiovascular disease, cancer, metabolic disease, mental health, and infectious disease. It’s a soup-to-nuts resource intended for specialists in all medical disciplines, for research professionals, and for medical and graduate students alike.
“Once again, Ginsburg and Willard have recruited an impressive cast of geneticists and genomicists to contribute chapters spanning a wide spectrum of topics – from fundamentals in genomics research to key clinical areas that represent some of the ‘lowest hanging fruit’ in terms of opportunities to have genomics change medical practice,” writes Director of the National Human Genome Research Institute Eric Green in the foreword. “Together, these chapters provide unequivocal evidence about the current state of genomic and personalized medicine – that the opportunities are breathtaking, that the challenges are immense, and that the potential to improve health is nearly unlimited.”
“This is the definitive textbook providing the content for a new era of medicine – an era where disease is defined at the molecular level rather than the anatomic level; where therapies are individualized and targeted rather than uniformly applied across a population,” said Dietrich Stephan, President and CEO of Silicon Valley Biosystems and Co-Founder of Navigenics. “We have an opportunity with this text to improve patient outcomes using new tools and strategies, which is certainly an exciting prospect for each of us. This text should be mandatory reading for every physician, or physician in training.”
New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from early breast cancer screening with mammograms beginning at age 40, and manual breast exams as early as adolescence.
In a small study of 126 women with NF1 at the Johns Hopkins Comprehensive Neurofibromatosis Center, the Johns Hopkins scientists identified four cases of breast cancer. The study showed a four-fold increased risk for breast cancer in women with NF1 compared to the general population of women under the age of 50. NF1 is characterized by the uncontrolled growth of mostly non-cancerous tumors along the body’s nerves, often resulting in pain and disfigurement.
Beyond their implications for breast cancer screening guidelines for women with NF1, the findings may also shed light on the origins and nature of breast cancer in those without the syndrome, the researchers say, because other recent studies suggest that some women without neurofibromatosis-1 had breast cancers fueled primarily by an NF1 mutation. A recent study, for example, described in the journal Nature, estimated that 3 percent of all breast cancers in the general population are caused by NF1 mutations that arise spontaneously.
“When we study rare populations intensively, we learn things that also may be factors in very common diseases, like breast cancer,” says Jaishri Blakeley, M.D., an assistant professor of neurology, neurosurgery and oncology at the Johns Hopkins University School of Medicine, and leader of the new study described online in the American Journal of Medical Genetics. “What we learn from this population will help us learn more about the subtleties of different types of breast cancers.”
The major implication of their study, Blakeley says, is the need for medical specialty societies to develop guidelines recognizing NF1 patients under the age of 50 as a group at increased risk for breast cancer. Guidelines developed by medical societies would change clinical practice and, just as importantly, encourage insurance companies to pay for potentially lifesaving screening in younger women with the debilitating disease, the researchers add.
“There are guidelines for how to care for women at high risk for breast cancer because of a family history of the disease, or because they have the BRCA genetic mutations, but there are no guidelines for women with NF1,” Blakeley says. “Women with NF1 haven’t even been on the radar as a high-risk population. Now that we increasingly understand the risk, we have to make sure doctors are talking to their patients about the benefits and risks of early screening.”
Blakeley, director of the Johns Hopkins Comprehensive Neurofibromatosis Center, says she recommends that her NF1 patients get a manual breast exam from a physician annually, beginning in their teens. She recommends mammograms beginning at age 40, 10 years earlier than current National Cancer Institute guidelines for the general population. Research has not yet determined the ideal time for NF1 patients to get their first mammograms; some physicians suggest age 30, the age recommended for women with BRCA mutations. Blakeley says that because radiation exposure can sometimes trigger benign tumors to change to malignant tumors in NF1 patients, she worries about an extra 10 years of radiation exposure due to mammography.