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New Institute for Precision Medicine Created at Weill Cornell Medical College and NewYork-Presbyterian Hospital

DR. MARK RUBIN, LEADING PROSTATE CANCER AND GENOMICS EXPERT, TO LEAD CUTTING-EDGE CENTER FOR TARGETED, INDIVIDUALIZED PATIENT CARE BASED ON EACH PATIENT’S GENETICS

NEW YORK (Jan. 31, 2013) — Recognizing that medicine is not “one size fits all,” Weill Cornell Medical College and NewYork-Presbyterian Hospital have created the pioneering Institute for Precision Medicine at Weill Cornell and NewYork-Presbyterian/Weill Cornell Medical Center. This new, cutting-edge translational medicine research hub will explore the new frontier of precision medicine, offering optimal targeted, individualized treatment based on each patient’s genetic profile. The institute’s new genomic research discoveries will help develop novel, personalized medical therapies to be tested in innovative clinical trials, while also building a comprehensive biobank to improve research and patient care.

	Dr. Mark Rubin

The Institute for Precision Medicine will be led by Dr. Mark Rubin, a renowned pathologist and prostate cancer expert who uses whole genomic sequencing in his laboratory to investigate DNA mutations that lead to disease, particularly prostate cancer. Dr. Rubin currently serves as vice chair for experimental pathology, director of Translational Research Laboratory Services, the Homer T. Hirst III Professor of Oncology, professor of pathology and laboratory medicine and professor of pathology in urology at Weill Cornell and is a pathologist at NewYork-Presbyterian/Weill Cornell.

Dr. Rubin and his team seek to replace the traditional one-size-fits-all medicine paradigm with one that focuses on targeted, individualized patient care using a patient’s own genetic profile and medical history. Physician-scientists at the institute will seek to precisely identify the genetic influencers of a patient’s specific illness — such as cancer, cardiovascular disease, neurodegenerative disease and others — and use this genetic information to design a more-effective course of treatment that targets those specific contributing factors. Also, genomic analyses of tumor tissue will enable researchers to help patients with advanced disease and no current treatment options, as well as to isolate the causes of drug resistance in patients who stop responding to treatments, redirecting them to more successful therapies.

Preventive precision medicine will also be a key initiative at the institute, allowing physician-scientists to help identify a patient’s risk of diseases and take necessary steps to aid in its prevention through medical treatment and/or lifestyle modification. In addition, the Institute for Precision Medicine will leverage an arsenal of innovative genomic sequencing, biobanking and bioinformatics technology to transform the existing paradigm for diagnosing and treating patients.

“This institute will revolutionize the way we treat disease, linking cutting-edge research and next-generation sequencing in the laboratory to the patient’s bedside,” Dr. Rubin says. “We will use advanced technology and the collective wealth of knowledge from our clinicians, basic scientists, pathologists, molecular biologists and computational biologists to pinpoint the molecular underpinnings of disease — information that will spur the discovery of novel treatments and therapies. It’s an exciting time to be involved in precision medicine and I look forward to advancing this game-changing field of medicine.”

“Precision medicine is the future of medicine, and its application will help countless patients,” says Dr. Laurie H. Glimcher, the Stephen and Suzanne Weiss Dean of Weill Cornell Medical College. “The Institute for Precision Medicine, with Dr. Rubin’s expertise and strong leadership, will accelerate our understanding of the human genome, provide key insights into the causes of disease and enable our physician-scientists to translate this knowledge from the lab to the clinical setting to help deliver personalized treatments to the sickest of our patients.”

Three main resources will facilitate the institute’s groundbreaking precision medicine work:

• genomics sequencing,
• biobanking and
• bioinformatics.

Weill Cornell and NewYork-Presbyterian will invest in state-of-the-art technology to conduct sequencing, a more expansive biobank for all patient specimens and tissue samples and dedicated bioinformaticians who will closely analyze patient data, searching for genetic mutations and other abnormalities to identify and target with treatment.

“The Institute for Precision Medicine will enable our doctors to tailor effective treatments for individual patients and also predict the diseases that are likely to affect a patient long before they develop,” says Dr. Steven J. Corwin, CEO of NewYork-Presbyterian Hospital. “By harnessing the full potential of our enhanced understanding of the human genome, and extending its reach into the clinical realm, the institute will transform patient care at NewYork-Presbyterian/Weill Cornell Medical Center and beyond.”

Dr. Rubin, the institute’s inaugural director, is a board-certified pathologist and physician-scientist with specific expertise in genitourinary pathology and an internationally recognized leader in prostate cancer genomics and biomarker research. His groundbreaking research investigating molecular biomarkers distinguishing indolent from aggressive disease has led to landmark discoveries that revolutionized the understanding of prostate cancer’s molecular underpinnings. This includes co-discovering two of the most common mutations in prostate cancer,

• the TMPRSS2-ETS rearrangements and 
• SPOP mutations.

Dr. Rubin is one of the “Dream Team” principal investigators of a multi-institutional $10 million grant from Stand Up 2 Cancer (SU2C) and the Prostate Cancer Foundation, addressing patients with advanced prostate cancer through a multi-phase approach employing next generation sequencing to help inform the direction of future clinical trials. Additionally, Dr. Rubin serves as a co-principal investigator on the National Cancer Institute‘s (NCI) Early Detection Research Network (EDRN) Biomarker Discovery Laboratory and worked for many years as part of the NCI Prostate Cancer Specialized Programs of Research Excellence (SPORE).

Dr. Rubin has authored more than 275 peer-reviewed publications, predominantly in prostate cancer, and holds multiple NCI-funded grants in prostate cancer genomics and biomarker development. He is a member of the World Health Organization Prostate Cancer Tumor Classification and the Prostate TCGA (The Cancer Genome Atlas) Working Group. He serves as an ad hoc reviewer for multiple publications including Nature, Science, Cancer Cell, Cancer Discovery and the New England Journal of Medicine. Dr. Rubin also serves as the chair of the EDRN Prostate Cancer Working Group and is a member of the ERDN Steering Committee. He is active in the NCI/NHGRI-sponsored TCGA serving on the Prostate Cancer Working Group and he is an external advisor for the Canadian International Cancer Genome Consortium (ICGC). He served on the NCI Cancer Biomarker Study Section for five years and as an ad hoc reviewer for other NCI and international granting organizations.

Dr. Rubin is the recipient of the Arthur Purdy Stout Society of Surgical Pathologists Annual Prize (2003), the Young Investigator Award (2004) given by the United States and Canadian Academy of Pathology and the Huggins Medal (2012), the highest award bestowed by the Society of Urologic Oncology. Finally, Dr. Rubin was a co-team leader with his long-term collaborator, Arul M. Chinnaiyan (University of Michigan) for the first annual American Association of Cancer Research Team Science Award (2007) in recognition for their groundbreaking work on TMPRSS2-ETS fusion prostate cancer.

Clinical Laboratory Improvement Amendments (CLIA)

The Centers for Medicare & Medicaid Services (CMS) regulates all laboratory testing (except research) performed on humans in the U.S. through the Clinical Laboratory Improvement Amendments (CLIA). In total, CLIA covers approximately 225,000 laboratory entities. The Division of Laboratory Services, within the Survey and Certification Group, under the Office of Clinical Standards and Quality (OCSQ) has the responsibility for implementing the CLIA Program.

The objective of the CLIA program is to ensure quality laboratory testing. Although all clinical laboratories must be properly certified to receive Medicare or Medicaid payments, CLIA has no direct Medicare or Medicaid program responsibilities.

For the following information, refer to the downloads/links listed below:

• For additional information about a particular laboratory, contact the appropriate State Agency or Regional Office CLIA contact (refer to State Agency or Regional Office CLIA link found on the left-hand navigation plane);
• Information about direct access testing (DAT) and the CLIA regulations is included in the Direct Access Testing download;
• OIG reports relating to CLIA;
• Guidance for Coordination of CLIA Activities Among CMS Central Office, CMS Regional Offices, State Agencies (including State with Licensure Requirements), Accreditation Organizations and States with CMS Approved State Laboratory Programs is contained in the Partners in Laboratory Oversight download;
• Quality control (QC) highlights from the regulations published in the Federal Register on January 24, 2003 are listed under the QC Highlights download;
• Micro sample pipetting information for laboratories;
• Information on alternative (non-traditional) laboratory is contained in the Special Alert download;
• Identifying Best Practices in Laboratory Medicine – a Battelle Project for the Centers for Disease Control and Prevention (CDC); and
• FDA Safety Tip for laboratories on how workload should be calculated when using currently FDA-approved semi-automated gynecologic cytology screening devices.

For specific information about the quality assurance guidelines for testing using the rapid HIV-1 antibody tests waived under CLIA, refer to the CDC Division of Laboratory Systems website listed under the related links outside CMS section below.

Complaint Reporting

To report a complaint about a laboratory, contact the appropriate State Agency that is found on the State Agency & Regional Office CLIA Contacts page located in the left navigation bar in this section.

Through a newly created Institute for Precision Medicine,Weill Cornell Medical College and New York Presbyterian Hospital plan to begin offering targeted, individualized treatment informed by patients’ genomes.

The institute first plans to guide treatment decisions for cancer patients using their genomic data, and then broaden the effort to those with common illnesses, such as cardiovascular disease and neurodegenerative disorders.

The new institute is currently awaiting regulatory approval from CLIA and New York State, according to its leader, Mark Rubin, a professor of pathology at Weill Cornell.

With that approval in hand, the center will begin using genome sequencing and other tools to inform treatment strategies for patients – first focusing on cancer, and then eventually broadening to other disease areas, he said.

While Rubin did not detail how the institute will recruit patients, he said the center plans to see cancer patients who can benefit from single-gene tests or other molecular diagnostics to inform treatment decisions, those with advanced diseases without treatment options, and patients who stop responding to standard treatments and could be redirected to other therapies.

“For some patients, there are very clear indications of whether they need a specific targeted therapy. Those are pretty straightforward,” Rubin said.

“And then there is emerging data that sequencing, either exome or whole-genome, can provide insight on which treatments cancer patients might need that are not considered standard treatments,” he said.

Insights from advanced sequencing technologies are also changing how researchers study patients, sometimes facilitating N-of-1 trials. “There are a few examples where treatments have been implemented and shown to be effective in a clinical trial of one,” Rubin said, “where they are the only person on the trial because of their specific mutations.”

He said the institute plans to be agnostic in terms of what technologies it uses for sequencing, but currently it relies on Illumina technology.

“We will have a number of different approaches, but the key is to do as best as possible in the clinical setting so that the results can be used in the management of patients,” Rubin said.

According to Rubin, the institute aims to find the optimal ways to collect genomic data, analyze it, and store it. As the center gears up and sees larger numbers of patients, Rubin said it also plans to use data and samples it collects to support larger retrospective or prospective studies, for which the institute is considering partnering with the New York Genome Center.

But not all patients the institute sees may require large-scale genome sequencing, Rubin reiterated.

“It may turn out that the most efficient way to determine if someone has a certain mutation, like EGFR, is to run the single-gene test up front. That’s not going to change for some types of disease,” he noted. “So, what I see our role being is developing these more complex approaches, which could be whole-genome sequencing, or using multiplex panels of genes.”

The institute will focus its efforts first on cancer patients because the development of genomically targeted therapies is relatively accelerated compared to other disease areas, so the potential to match a mutation in a cancer patient’s genome to a potential treatment may be greater than for those with other illnesses. But according to Rubin, the institute does plan to expand to other populations, like cardiovascular conditions, neurodegenerative diseases, and possibly infectious diseases.

In addition, he said the Institute is also discussing how it might use prognostic genomic information to look at disease risk, with the potential to inform early interventional treatment decision making.

“Because we are a hospital that sees well patients being followed by their doctors, that’s something we’re contemplating as pilot,” he said.

“We don’t have a plan in mind yet, but those types of studies are probably very important in specific disease entities, for patients at risk for a particular constitutional disease … or you could imagine we might screen large numbers of our patient population to look for risk factors that may not have been identified yet,” he said.

Several commercial and academic groups have recently begun offering clinical cancer sequencing and other genomic analyses to potentially guide therapeutic decision making.

Foundation Medicine, for example, sells a test that sequences the exons of nearly 200 genes known to be mutated in solid tumors and provides a report informing doctors of actionable mutations.

Other firms, like Caris Life Sciences, provide reports to doctors and patients matching gene-expression or sequence data to potentially actionable therapies.

The University of Michigan and the International Genomics Consortium announced last fall that they were creating a non-profit company called Paradigm to provide a targeted-sequencing-based diagnostic service to guide personalized treatment for cancer and, eventually, other diseases (PGx Reporter 7/5/2012).

Though the new Weill Cornell institute plans to start fairly narrowly, Rubin’s overall goals for the center may put it in a position to offer a potentially more comprehensive service than many of these other groups.

“The most challenging part right now is for us to understand that sequencing is just a test, something that may or may not be useful in itself. It’s in working in the clinical setting that we are going to really define it,” Rubin said.

The institute, in the early days of its operations, is still in a learning phase, but “expectations are high” for the effort to succeed, according to Rubin. “Our job is to live up to the promise [of sequencing] to help identify novel targets for patients who may not have any choices with respect to treatment,” Rubin said. “And also to make discoveries that may be useful for a larger population.”

Molika Ashford is a GenomeWeb contributing editor and covers personalized medicine and molecular diagnostics. E-mail Molika Ashford.