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Bella Santorum and Trisomy 18: Care has shifted for genetic disorder

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According to a study published in the online version of the journal The Oncologist, a genetic variation that increases the risk of individuals who take bisphosphonates, developing serious necrotic jaw bone lesions, has been identified by researchers at the Columbia University College of Dental Medicine.

Bisphosphonates are a common class of osteoclastic inhibitors that work by attaching to calcium in the bone and inhibiting osteoclasts, bone cells that disintegrate the bone's mineral structure. The finding opens the door for a genetic screening test to determine which individuals can take these medications safely.

At present, approximately 3 million women in the U.S. take oral bisphosphonates for the treatment or prevention of osteoporosis. Furthermore, each year, thousands of cancer patients are given intravenous bisphosphonates to prevent excess calcium (hypercalcemia) from gathering in the blood and to control the spread of bone cancer.

Lead researcher of the study, Athanasios I. Zavras, DMD, MS,DMSc, associate professor of Dentistry and Epidemiology and Director of the Division of Oral Epidemiology & Biostatistics at the Columbia University College of Dental Medicine, explained:

“These drugs have been widely used for years and are generally considered safe and effective. But the popular literature and blogs are filled with stories of patients on prolonged bisphosphonate therapy who were trying to control osteoporosis or hypercalcemia only to develop osteonecrosis of the jaw.”

Often, osteonecrosis of the jaw (ONJ) results in painful and difficult-to-treat bone lesions, which can ultimately result in entire jaw loss. Among individuals taking bisphosphonates, ONJ usually occurs in those who go through invasive dental procedures or those with dental disease.

At present, figures on the incidence of ONJ in individuals taking oral bisphosphonates are unreliable. According to the American College of Rheumatology, estimates vary from 1 in 1,000 to 1 in 100,000 patients each year of exposure to the drug. Approximately 5% to 10% of cancer patients taking intravenous bisphosphonates are affected by ONJ.

According to prior investigations, genetic factors play a significant role in predisposing patients to ONJ. Dr. Zavras and his team conducted genome-wide examination of 30 individuals who have developed ONJ while taking bisphosponates and compared them with several disease free individuals who used bisphosphonates.

Results showed that individuals who has a small variation in the RBMS3 gene were 5.8 times more likely to develop ONJ than individuals without the variation. The researchers also identified small variations in two other genes that may contribute to ONJ risk – IGFBP7 and ABCC4.

Dr. Zavras, explained:

“Our ultimate goal is to develop a pharmacogenetic test that personalizes risk assessment for ONJ, a test that you could give to people before they start to use bisphosphonates.

Those who are positive for this genetic variation would select some other treatment, while those who are negative could take these medications with little fear of developing ONJ.”

Dr. Zavras, continued:

“At the moment, many women discontinue or avoid treatment for serious osteoporosis because they are afraid of losing their jaw bones. There even are reports of dentists who have refused to perform certain invasive procedures in patients taking bisphosphonates. So there is a great need for a pharmacogenetic screening test to determine which patients are really at risk for ONJ.”

The researchers explain that additional studies are required in order to determine if the RBMS3 gene variation is seen in other racial groups, as the current investigation only examined Caucasians.

The study was supported by the National Institute of Dental and Craniofacial Research.

Written by Grace Rattue
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

Visit our genetics section for the latest news on this subject. “Genomewide Pharmacogenetics of Bisphosphonate-Induced Osteonecrosis of the Jaw: The Role of RBMS3” Paola Nicoletti et al.
The Oncologist, First Published Online January 20, 2012; doi: 10.1634/theoncologist.2011-0202

Source: Columbia University Medical Center

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Osteoporosis Drug Complications Linked To Genetic Factors

“ROS1 encodes a protein that is important for cell growth and survival, and deregulation of ROS1 through chromosomal rearrangement drives the growth of tumors,” says Alice Shaw, MD, PhD, of the MGH Cancer Center – co-lead author of the paper which has been published online in the Journal of Clinical Oncology. “This finding is important because we have drugs that inhibit ROS1 and could lead to the sort of dramatic clinical response we describe in this paper.”

The current findings add ROS1 to the list of genes known to drive NSCLC growth when altered – a list that includes KRAS, mutations of which account for about 25 percent of cases; EGFR, accounting for 10 to 15 percent; and ALK, rearranged in about 4 percent. Altogether, known cancer-causing genetic changes have been found in a little more than half of NSCLC tumors. Originally identified in brain tumors, ROS1 rearrangement previously had been identified in one NSCLC patient and one NSCLC cell line. The current study was designed to determine the frequency of ROS1 rearrangement in NSCLC and to define the characteristics of patients with ROS1-rearranged tumors.

The investigators screened tumor samples from more than 1,000 NSCLC patients treated at the MGH, Vanderbilt University, the University of California at Irvine, and Fudan University in Shanghai, China. ROS1 rearrangement was identified in 18 tumor samples, for a prevalence of 1.7 percent; ALK rearrangements were identified in 31 samples, with no samples showing alterations in both genes. Patients with ROS1-positive tumors tended to be younger, never to have smoked and to have a type of lung cancer called adenocarcinoma – characteristics very similar to those of ALK-positive patients.

An earlier MGH study of an experimental ALK inhibitor had found the drug suppressed the growth of a ROS1-positive cell line in addition to ALK-positive cell lines, suggesting that ROS1-positive tumors might be sensitive to the ALK-inhibitor crizotinib. This observation led corresponding author John Iafrate, MD, PhD, and his team to develop a diagnostic test that could identify ROS1-positive tumors. Around the time that test became clinically available, a lung cancer patient whose tumor had not responded to drugs targeting EGFR mutations was referred to the MGH Cancer Center for genetic testing. His tumor was negative for ALK but later proved to harbor a ROS1 rearrangement, and he was enrolled in an extension of the crizotinib clinical trial first reported in the October 28, 2010, New England Journal of Medicine.

“When he enrolled in the trial last April, this patient was extremely sick – with significant weight loss and very low oxygen levels – and was barely able to walk,” says Shaw. “Within a few days of starting crizotinib, he felt better; and by the time we scanned his chest at seven weeks, the tumors had essentially disappeared from his lungs.” Nine months after starting crizotinib therapy, this patient continues to do well. Additional ROS1-positive patients have been enrolled in this trial at MGH, at UC Irvine and at the University of Colorado.

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Study defines a new genetic subtype of lung cancer

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Researchers decipher genetic material of 48 pediatric glioblastomas

Contact: Katie Marquedant
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Massachusetts General Hospital

A report from investigators at the Massachusetts General Hospital (MGH) Cancer Center has defined the role of a recently identified gene abnormality in a deadly form of lung cancer. Tumors driven by rearrangements in the ROS1 gene represent 1 to 2 percent of non-small-cell lung cancers (NSCLC), the leading cause of cancer death in the U.S. The researchers show that ROS1-driven tumors can be treated with crizotinib, which also inhibits the growth of tumors driven by an oncogene called ALK, and describe the remarkable response of one patient to crizotinib treatment.

“ROS1 encodes a protein that is important for cell growth and survival, and deregulation of ROS1 through chromosomal rearrangement drives the growth of tumors,” says Alice Shaw, MD, PhD, of the MGH Cancer Center ? co-lead author of the paper which has been published online in the Journal of Clinical Oncology. “This finding is important because we have drugs that inhibit ROS1 and could lead to the sort of dramatic clinical response we describe in this paper.”

The current findings add ROS1 to the list of genes known to drive NSCLC growth when altered ? a list that includes KRAS, mutations of which account for about 25 percent of cases; EGFR, accounting for 10 to 15 percent; and ALK, rearranged in about 4 percent. Altogether, known cancer-causing genetic changes have been found in a little more than half of NSCLC tumors. Originally identified in brain tumors, ROS1 rearrangement previously had been identified in one NSCLC patient and one NSCLC cell line. The current study was designed to determine the frequency of ROS1 rearrangement in NSCLC and to define the characteristics of patients with ROS1-rearranged tumors.

The investigators screened tumor samples from more than 1,000 NSCLC patients treated at the MGH, Vanderbilt University, the University of California at Irvine, and Fudan University in Shanghai, China. ROS1 rearrangement was identified in 18 tumor samples, for a prevalence of 1.7 percent; ALK rearrangements were identified in 31 samples, with no samples showing alterations in both genes. Patients with ROS1-positive tumors tended to be younger, never to have smoked and to have a type of lung cancer called adenocarcinoma ? characteristics very similar to those of ALK-positive patients.

An earlier MGH study of an experimental ALK inhibitor had found the drug suppressed the growth of a ROS1-positive cell line in addition to ALK-positive cell lines, suggesting that ROS1-positive tumors might be sensitive to the ALK-inhibitor crizotinib. This observation led corresponding author John Iafrate, MD, PhD, and his team to develop a diagnostic test that could identify ROS1-positive tumors. Around the time that test became clinically available, a lung cancer patient whose tumor had not responded to drugs targeting EGFR mutations was referred to the MGH Cancer Center for genetic testing. His tumor was negative for ALK but later proved to harbor a ROS1 rearrangement, and he was enrolled in an extension of the crizotinib clinical trial first reported in the October 28, 2010, New England Journal of Medicine.

“When he enrolled in the trial last April, this patient was extremely sick ? with significant weight loss and very low oxygen levels ? and was barely able to walk,” says Shaw. “Within a few days of starting crizotinib, he felt better; and by the time we scanned his chest at seven weeks, the tumors had essentially disappeared from his lungs.” Nine months after starting crizotinib therapy, this patient continues to do well. Additional ROS1-positive patients have been enrolled in this trial at MGH, at UC Irvine and at the University of Colorado.

###

Shaw is an assistant professor of Medicine and Iafrate is an associate professor of Pathology at Harvard Medical School. Co-lead authors are Kristin Bergethon, MGH Pathology, and Sai-Hong Ignatius Ou, MD, PhD, University of California at Irvine. The study was supported by grants from the National Institutes of Health and from Pfizer, which received FDA approval for crizotinib in August 2011.

Additional co-authors are Ryohei Katayama, Eugene Mark, Julie Batten, Eunice Kwak, Jeffrey Clark, Jeffrey Engelman, and Mari Mino Kenudson, MGH Cancer Center; Christina Siwak-Tapp, University of California at Irvine; Keith D. Wilner, Pfizer; Christine Lovly, Nerina McDonald, Pierre Massion, Adriana Gonzalez, David Carbone, and William Pao, Vanderbilt University Medical Center; Pierre Massion, Nashville Veterans Affairs Medical Center; Rong Fang and Hongbin Ji, Shanghai Institutes for Biological Sciences; and Haiquan Chen, Shanghai Medical College, Fudan University.

Massachusetts General Hospital (http://www.massgeneral.org), founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine.

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Massachusetts General study defines a new genetic subtype of lung cancer

Hispanic children are more likely than those from other racial and ethnic backgrounds to be diagnosed with acute lymphoblastic leukemia (ALL) and are more likely to die of their disease. Work led by St. Jude Children's Research Hospital scientists has pinpointed genetic factors behind the grim statistics.

Researchers studying a gene called ARID5B linked eight common variants of the gene to an increased risk of not only developing pediatric ALL but of having the cancer return after treatment. Two more ARID5B variants were tied to higher odds of developing the disease. Investigators found that Hispanic children were up to twice as likely as their white counterparts to inherit a high risk-version of ARID5B.

“For years we have known about ethnic and racial disparities in ALL risk and outcome, but the biology behind it has been elusive. Therefore, it is truly exciting to be able to not only pin down the biological basis but to find that the same gene might be responsible for both differences. Children who inherit high-risk versions of ARID5B are more likely to develop ALL in the first place and then more likely to fail therapy,” said Jun Yang, Ph.D., an assistant member of the St. Jude Department of Pharmaceutical Sciences and the paper's corresponding author.

The work was done in collaboration with the Children's Oncology Group (COG), a U.S. based research cooperative study group focused on childhood cancer research and clinical trials. The study appears in the January 30 online edition of the Journal of Clinical Oncology.

Multiple factors contribute to cancer development, and inheriting a high-risk version of ARID5B is not enough to cause the disease, Yang said. These findings set the stage for exciting research in understanding how genetic, environmental and other factors combine in ALL, especially in the context of racial and ethnic disparity, he said.

“These and other genomic studies suggest we are poised to finally make significant progress in eliminating racial disparities in this catastrophic disease,” Yang said. Additional work is needed to translate these findings into new clinical tools, he added.

Each year ALL is found in about 3,000 U.S. children, making it the most common childhood cancer. The incidence varies by self-declared race and ethnicity with rates for Hispanic individuals 50 percent higher than for non-Hispanic white individuals. For this study, researchers used genetic variations rather than individual self-report to define ancestry. White children were defined as having greater than 95 percent European ancestry and Hispanics children as having greater than 10 percent Native American ancestry.

Although the work of St. Jude researchers and others is helping to close the survival gap, Hispanic children are still less likely than children from other racial or ethnic backgrounds to be alive five years after diagnosis.

This study builds on the earlier St. Jude research that linked different versions of the ARID5B gene to ALL risk.

Link:
Study pinpoints genetic factors behind increased ALL risk in Hispanic children

ScienceDaily (Jan. 31, 2012) — A report from investigators at the Massachusetts General Hospital (MGH) Cancer Center has defined the role of a recently identified gene abnormality in a deadly form of lung cancer. Tumors driven by rearrangements in the ROS1 gene represent 1 to 2 percent of non-small-cell lung cancers (NSCLC), the leading cause of cancer death in the U.S. The researchers show that ROS1-driven tumors can be treated with crizotinib, which also inhibits the growth of tumors driven by an oncogene called ALK, and describe the remarkable response of one patient to crizotinib treatment.

“ROS1 encodes a protein that is important for cell growth and survival, and deregulation of ROS1 through chromosomal rearrangement drives the growth of tumors,” says Alice Shaw, MD, PhD, of the MGH Cancer Center — co-lead author of the paper which has been published online in the Journal of Clinical Oncology. “This finding is important because we have drugs that inhibit ROS1 and could lead to the sort of dramatic clinical response we describe in this paper.”

The current findings add ROS1 to the list of genes known to drive NSCLC growth when altered — a list that includes KRAS, mutations of which account for about 25 percent of cases; EGFR, accounting for 10 to 15 percent; and ALK, rearranged in about 4 percent. Altogether, known cancer-causing genetic changes have been found in a little more than half of NSCLC tumors. Originally identified in brain tumors, ROS1 rearrangement previously had been identified in one NSCLC patient and one NSCLC cell line. The current study was designed to determine the frequency of ROS1 rearrangement in NSCLC and to define the characteristics of patients with ROS1-rearranged tumors.

The investigators screened tumor samples from more than 1,000 NSCLC patients treated at the MGH, Vanderbilt University, the University of California at Irvine, and Fudan University in Shanghai, China. ROS1 rearrangement was identified in 18 tumor samples, for a prevalence of 1.7 percent; ALK rearrangements were identified in 31 samples, with no samples showing alterations in both genes. Patients with ROS1-positive tumors tended to be younger, never to have smoked and to have a type of lung cancer called adenocarcinoma — characteristics very similar to those of ALK-positive patients.

An earlier MGH study of an experimental ALK inhibitor had found the drug suppressed the growth of a ROS1-positive cell line in addition to ALK-positive cell lines, suggesting that ROS1-positive tumors might be sensitive to the ALK-inhibitor crizotinib. This observation led corresponding author John Iafrate, MD, PhD, and his team to develop a diagnostic test that could identify ROS1-positive tumors. Around the time that test became clinically available, a lung cancer patient whose tumor had not responded to drugs targeting EGFR mutations was referred to the MGH Cancer Center for genetic testing. His tumor was negative for ALK but later proved to harbor a ROS1 rearrangement, and he was enrolled in an extension of the crizotinib clinical trial first reported in the October 28, 2010, New England Journal of Medicine.

“When he enrolled in the trial last April, this patient was extremely sick — with significant weight loss and very low oxygen levels — and was barely able to walk,” says Shaw. “Within a few days of starting crizotinib, he felt better; and by the time we scanned his chest at seven weeks, the tumors had essentially disappeared from his lungs.” Nine months after starting crizotinib therapy, this patient continues to do well. Additional ROS1-positive patients have been enrolled in this trial at MGH, at UC Irvine and at the University of Colorado.

Shaw is an assistant professor of Medicine and Iafrate is an associate professor of Pathology at Harvard Medical School. Co-lead authors are Kristin Bergethon, MGH Pathology, and Sai-Hong Ignatius Ou, MD, PhD, University of California at Irvine. The study was supported by grants from the National Institutes of Health and from Pfizer, which received FDA approval for crizotinib in August 2011.

Additional co-authors are Ryohei Katayama, Eugene Mark, Julie Batten, Eunice Kwak, Jeffrey Clark, Jeffrey Engelman, and Mari Mino Kenudson, MGH Cancer Center; Christina Siwak-Tapp, University of California at Irvine; Keith D. Wilner, Pfizer; Christine Lovly, Nerina McDonald, Pierre Massion, Adriana Gonzalez, David Carbone, and William Pao, Vanderbilt University Medical Center; Pierre Massion, Nashville Veterans Affairs Medical Center; Rong Fang and Hongbin Ji, Shanghai Institutes for Biological Sciences; and Haiquan Chen, Shanghai Medical College, Fudan University.

Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine.

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Journal Reference:

K. Bergethon, A. T. Shaw, S.-H. Ignatius Ou, R. Katayama, C. M. Lovly, N. T. McDonald, P. P. Massion, C. Siwak-Tapp, A. Gonzalez, R. Fang, E. J. Mark, J. M. Batten, H. Chen, K. D. Wilner, E. L. Kwak, J. W. Clark, D. P. Carbone, H. Ji, J. A. Engelman, M. Mino-Kenudson, W. Pao, A. J. Iafrate. ROS1 Rearrangements Define a Unique Molecular Class of Lung Cancers. Journal of Clinical Oncology, 2012; DOI: 10.1200/JCO.2011.35.6345

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Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

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New genetic subtype of lung cancer defined

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Genetic Technologies Files Quarterly Activities Report and ASX Appendix 4C for Quarter Ended December 31, 2011

MONTREAL — A team of Montreal scientists has pinpointed the genetic causes behind some of the deadliest brain tumours in children, raising hopes of a “tailored” therapy that might one day save lives and spare patients horrendous side effects.

The researchers identified two mutations in a highly important gene, known as histone H3.3. Normally, this gene regulates DNA. But the mutations in the gene were found not only to prevent brain cells from growing normally, they also made them resistant to standard chemo and radiotherapy.

Scientists made the discovery at the Research Institute of the McGill University Health Centre after decoding parts of the genomes of 48 brain tumour samples. The mutations were responsible for at least 30 per cent of pediatric glioblastoma tumours and 80 per cent of brain stem gliomas.

“We now have hope to give to these children and their families,” said Nada Jabado, a co-author of the research study and a hematologist-oncologist at the Montreal Children's Hospital.

“I see these patients. I treat them. My last patient was a five-year-old that came in pristine and within a year she died the most horrible death a parent can imagine.”

Each year in Canada, 250 children die from brain tumours.

Brain stem gliomas and glioblastomas comprise only 20 per cent of all brain tumours in children, but they are usually fatal within 18 months of diagnosis. The other 80 per cent of brain tumours are treatable, Jabado said.

Using chemo and radiotherapy, doctors can extend the lives of some children by up to a year, but no more.

“We're hitting patients with everything we have, drugs that have tons of side effects on growth, blood pressure and the kidneys,” Jabado explained. “We're giving them these drugs because we're desperate, because nothing works.”

Jabado and her colleague, Jacek Majewski, are now pursuing possible treatments based on their genetic discovery.

“I have already contacted pharmaceutical companies,” she said. “We are designing mouse models, because you need to test them. But we have already identified a few agents that are promising.”

The researchers are also seeking to understand what might trigger the mutations in the first place.

The Montreal team led an international effort that included scientists from the University of Toronto as well as from research institutes in England, Poland, Germany, Hungary and Russia.

The findings were published in the latest edition of the journal Nature.

© Copyright (c) The Montreal Gazette

Original post:
Scientists identify genetic mutations behind children's brain tumour

by Emily Gersema – Jan.
28, 2012 01:29 PM
The Republic | azcentral.com

A massive building near Phoenix Sky Harbor International
Airport is now home to a supercomputer that one day is expected
to store clinical-research reports, medical records and the
decoded genetic makeup of millions of patients and their
cancers.

Having this vault of medical information is a dream for
doctors, specialists and researchers who are trying to tailor
medical care to the individual needs of their cancer patients.
Despite huge advances in research and medicine, doctors have no
one-stop shop for up-to-date clinical-trial results, other
medical cases and genetic maps of their patients.

With access to this massive library, cancer doctors potentially
could specify with precision the dosages of medicines,
chemotherapy and radiation therapy for their patients by
comparing those cases to those of other patients with similar
genetic makeups and similar cancers.

In effect, this supercomputer could be a gateway to
personalized medical care, as its creator, billionaire
scientist Patrick Soon-Shiong, envisions it. His staff at CSS
Institute for Advanced Health in California, which owns the
project, and supporters of personalized medicine said the vault
also could help reduce doctor error in the diagnosis and
treatment of patients.

Better treatments and more accurate diagnoses could help lower
the cost of medical care and enable patients to get treatment
at home instead of at the hospital, they said.

The presence of the supercomputer could put Phoenix on the
cutting edge of medical research and treatment. The path to
these potential medical breakthroughs, however, is fraught with
privacy concerns. Patient advocates fear the project could open
a pathway to exploitation if patient information isn't
confidential. They want assurances that the institute would
require patient consent to obtain records, the records would be
kept private and the project would be under close regulatory
oversight.

The engine: A supercomputer

While the word “supercomputer” evokes an image of a giant
computer, the machine located in the Phoenix storage site
resembles a large herd of smaller computers that have been
linked to one another.

“It used to be a one big monolithic thing,” said Anoj Willy, of
the CSS Institute. “But now what we're able to do is take lots
of general-purpose computers and band them to create a big,
superprocessing engine.”

The CSS Institute project, which involves equipment and
products from Hewlett-Packard and Intel Corp., is in its
earliest stages, Willy said. The institute plans to focus data
collection on genetic research and cancer.

The endeavor would create at least 50 jobs with annual salaries
of about $75,000. Soon-Shiong also would invest at least $200
million in development, construction, machinery and equipment
to build the electronic-data-storage facility.

The institute is in the process of signing agreements with
various institutions that have been sequencing genomes — the
maps of DNA strands that make up living things.

Bob Peirce, senior vice president of Soon-Shiong's Nant
Holdings in Los Angeles, said that while scientists have made
strides in human genomic sequencing, the maps of these
sequences are scattered at different sites around the world,
depending on which institution decoded them.

Researchers have not yet decoded the whole human genome, Peirce
said. They have each decoded snippets.

The lack of a complete map and a one-stop shop for the genomic
information for doctors and researchers impedes their progress
in personalized medical treatment, he said.

This means genomic sequences currently aren't “relevant to the
average patient or the average doctor,” Peirce said.

Creating a complete map of the human genome would require a
massive, computerized data center, like the one being built by
Soon-Shiong in Phoenix — to decode what scientists estimate
are 3 billion pairs of DNA strands.

In addition, Soon-Shiong wants the supercomputer and its data
centers, including one planned for Scottsdale, to aid in
mapping the genetic makeup of individual patients' cancerous
cells.

“We need to be in a position where we can analyze the genome of
the cancer and determine the genome of the host patient (to
treat them),” Peirce said.

Peirce offered assurances that the data would be highly secured
to guard against hackers. The data could be accessed by people
who are deemed “authorized users,” he said, which could include
the patients themselves who are trying to monitor their
conditions and care. The institute has been working with a
“chief technical officer,” who worked at the Pentagon, on
securing the data centers and information they contain, Peirce
said. He declined to name the officer.

The concern: Privacy

Edward Abrahams, president of the Personalized Medicine
Coalition, a non-profit group in Washington, D.C., said
researchers are on the cusp of creating medical care tailored
to each person's needs, and they can reach that with a
supercomputer.

But they are faced with several challenges. Chief among them is
patient privacy, he said.

The federal Health Insurance Portability and Accountability Act
guards patient privacy, but its reach is limited. Patient
information is kept private within the realm of health care –
at the doctor's office, the hospital and with the patient's
insurance company, said Bob Gellman, a privacy expert in
Washington, D.C.

“An institution like this (CSS Institute) is not covered by
health-privacy laws,” Gellman said. “It's not a health-care
provider. It's not an insurer.”

Gellman said a worst-case scenario would involve a patient
sharing genetic information with a company or organization,
only to have it misused or exploited by another party.

“The information when it sat in the health-care system — when
it sat in your doctor's office — had all kinds of
protections,” Gellman said. “But if you give the information
with your consent to somebody else, then someone could just go
to that third party and say, 'Give me all your information.' ”

In that scenario, the records and data are out of the patient's
control and are unprotected.

Individuals trying to solve the health problems of their
autistic children, for example, may want to participate.

“That may be a perfectly rational decision.” Gellman said. “But
for people who don't know or aren't aware of that
(institution's) motivation … you might agree to give this
information, and 20 years later, you're in litigation with
somebody or you're applying for a job and it comes up.”

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Medical-research cache in works in Phoenix

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Medical-research cache in works

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Genetic Mutation That Triggers Pancreatic Cancer Identified

ScienceDaily (Jan. 27, 2012) — New
York, NY (January 26, 2012) — Researchers at the Columbia
University College of Dental Medicine have identified a genetic
variation that raises the risk of developing serious necrotic
jaw bone lesions in patients who take bisphosphonates, a common
class of osteoclastic inhibitors. The discovery paves the way
for a genetic screening test to determine who can safely take
these drugs. The study appears in the online version of the
journal The Oncologist.

Oral bisphosphonates are currently taken by some 3 million
women in the United States for the prevention or treatment of
osteoporosis. In addition, intravenous bisphosphonates are
given to thousands of cancer patients each year to control the
spread of bone cancer and prevent excess calcium
(hypercalcemia) from accumulating in the blood. Bisphosphonates
work by binding to calcium in the bone and inhibiting
osteoclasts, bone cells that break down the bone’s mineral
structure.

“These drugs have been widely used for years and are generally
considered safe and effective,” said study leader Athanasios I.
Zavras, DMD, MS, DMSc, associate professor of Dentistry and
Epidemiology and Director of the Division of Oral Epidemiology
& Biostatistics at the Columbia University College of
Dental Medicine. “But the popular literature and blogs are
filled with stories of patients on prolonged bisphosphonate
therapy who were trying to control osteoporosis or
hypercalcemia only to develop osteonecrosis of the jaw.”

Osteonecrosis of the jaw, or ONJ, often leads to painful and
hard-to-treat bone lesions, which can eventually lead to loss
of the entire jaw. Among people taking bisphosphonates, ONJ
tends to occur in those with dental disease or those who
undergo invasive dental procedures.

There are no reliable figures on the incidence of ONJ in
patients taking oral bisphosphonates. Estimates range from 1 in
1,000 to 1 in 100,000 patients for each year of exposure to the
medication, according to the American College of Rheumatology.
ONJ is more common among cancer patients taking the intravenous
form of the drug, affecting about 5 to 10 percent of these
individuals, noted Dr. Zavras.

Studies have suggested that genetic factors play a major role
in predisposing patients to ONJ.
Delving deeper into this question, Dr. Zavras and his
colleagues performed genome-wide analyses of 30 patients who
were taking bisphosphonates and had developed ONJ and compared
them with several bisphosphonate users who were disease free.

The researchers found that patients who had a small variation
in the RBMS3 gene were 5.8 times more likely to develop ONJ
than those without the variation. The study also identified
small variations in two other genes, IGFBP7 and ABCC4, that may
contribute to ONJ risk.

“Our ultimate goal is to develop a pharmacogenetic test that
personalizes risk assessment for ONJ, a test that you could
give to people before they start to use bisphosphonates,” said
Dr. Zavras. “Those who are positive for this genetic variation
would select some other treatment, while those who are negative
could take these medications with little fear of developing
ONJ.”

“At the moment, many women discontinue or avoid treatment for
serious osteoporosis because they are afraid of losing their
jaw bones,” added Dr. Zavras. “There even are reports of
dentists who have refused to perform certain invasive
procedures in patients taking bisphosphonates. So there is a
great need for a pharmacogenetic screening test to determine
which patients are really at risk for ONJ.”

The current study looked only at Caucasians. Further studies
are needed to determine whether the RBMS3 gene variation is
seen in other racial groups, according to the researchers.

The paper is entitled, “Genome-wide pharmacogenetics of
bisphosphonate-induced osteonecrosis of the jaw: the role of
RBMS3.” The lead authors are Paola Nicoletti of CUMC and
Vassiliki M. Cartsos of Tufts School of Dental Medicine. The
other contributors are Penelope K. Palaska of Tufts and Yufeng
Shen and Aris Floratos at the Columbia University Medical
Center Bioinformatics Department.

This research was supported by grant number 7R21DE018143-03
from the National Institute of Dental and Craniofacial
Research.
Columbia University has filed a patent application with the
United States Patent and Trademark Office relating to a genetic
screening test for predisposition to ONJ, and, through its
technology transfer office, Columbia Technology Ventures, is
actively seeking partners to collaborate, license and
commercialize the technology.
-####-

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Study Pinpoints Genetic Variation that Raises Risk of Serious Complication Linked to Osteoporosis Drugs