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Genomics in Medicine – Establishing a Patient-Centric View of Genomic Data

Posted in Computational Biology/Systems and Bioinformatics, Genome Biology, Personalized and Precision Medicine & Genomic Research, tagged Medical genetics, medicine, Montefiore Medical Center, NGS, Whole genome sequencing on December 11, 2013| Leave a Comment »

Genomics in Medicine – Establishing a Patient-Centric View of Genomic Data

Reporter: Aviva Lev-Ari, PhD, RN

UPDATED on 12/13, 2013

Second Annual
Genomics in Medicine
Establishing a Patient-Centric View of Genomic Data
February 13-14, 2014 | San Francisco, CA

Dr. Michael Christman, President and CEO of the Coriell Institute for Medical Research, to Present “Using a Patient’s Genetic Information in the Real World” at the Second Annual Genomics in Medicine Symposium

When a patient needs a new prescription, it will be necessary for the physician to quickly and securely access his/her genetic data to understand drug efficacy prior to dosing. Who will patients and doctors trust to store and interpret the data? Coriell and the CPMC research study have defined several of the key barriers to accelerate the adoption and routine use of genomics in medicine and have proposed solutions that are generally applicable.

Dr. Christman is an expert in genetics and genomics, with a focus on the integration of genome information into the delivery of clinical care. In 2007, he joined Coriell and initiated the Coriell Personalized Medicine Collaborative® (CPMC®), a research study evaluating the utility of using the knowledge of genetics in medicine. Prior to joining Coriell, he served as professor and founding chair of the Department of Genetics and Genomics for Boston University School of Medicine. There he led an international team of scientists in one of the first genome-wide association studies using the Framingham Heart Study cohort, published in Science magazine. Dr. Christman received his bachelor’s degree in chemistry with honors from the University of North Carolina, Chapel Hill, his doctorate in biochemistry from the University of California, Berkeley, and was a Jane Coffin Childs postdoctoral fellow at the Massachusetts Institute of Technology.

FINAL AGENDA

RETURNING GENOMIC INFORMATION TO THE PATIENT

KEYNOTE PRESENTATION
Incidental Findings in Genomic Medicine: The Debate and the Data
Robert C. Green, M.D., MPH, Director, G2P Research Program; Associate Director, Research, Partners Center for Personalized Genetic Medicine, Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School

Genomic Medicine Implementations for Primary Care
Erwin Bottinger, M.D., The Irene and Dr. Arthur Fishberg Professor of Medicine; Director, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine, Mount Sinai

Ethical Issues Related to the Return of Incidental Findings in Children/Families
Ingrid A. Holm, M.D., MPH, Director, Phenotyping Core, Program in Genomics, Divisions of Genetics and Endocrinology, Boston Children’s Hospital

EMERGING TOOLS TO ENABLE PHYSICIAN USE

Reducing the Complexity of Clinical Omics Reporting for Clinicians and Laboratories [Listen to Podcast <http://www.chicorporate.com/click-thru/131500/?email=avivalev-ari@alum.berkeley.edu> ]
Jonathan Hirsch, Founder & President, Syapse

Beyond Sequence: Integration of Full-Genome Technologies for Personalized Medicine in the Clinic
Raphael Lehrer, Founder and Chief Scientist, GeneKey

Targeted NGS of Clinical Samples: Overcoming the Challenges of Obtaining High Quality Data from Low Quality DNA
Diane Ilsley, Ph.D., Marketing Manager, Genomic Services, Asuragen
Sponsored by:
<http://www.asuragen.com/>

BRIDGING THE GAP BETWEEN RESEARCH AND TREATMENT

Genome Sequencing in the Clinic: Found the Variants – Now What?
Jennifer Friedman, M.D., Associate Clinical Professor, Neurosciences and Pediatrics, UCSD/Rady Children’s Hospital San Diego

The Answer is There, but I Don’t Understand It: Solutions from the Front Line
Vanya Gant, Ph.D., FRCP, FRCPath, Divisional Clinical Director for Infection, The Department of Microbiology, UCLH NHS Foundation Trust

Using a Patient’s Genetic Information in the Real World
Michael F. Christman, Ph.D., President and CEO, Coriell Institute for Medical Research

Developing Clinical Sequencing Assays at Einstein-Montefiore
Cristina Montagna, Ph.D., Associate Professor, Genetics, Albert Einstein College of Medicine

THE IMPACT OF DTC TESTING

Direct-to-Consumer Genetic Testing: Balancing the Good and the Bad
Nazneen Aziz, Ph.D., Director, Molecular Medicine, Transformation Program Office, College of American Pathologists

Crowdsourcing Genetic Discovery
Nicholas Eriksson, Ph.D., Principal Scientist, Statistical Genetics, 23andMe

Personal Genomics through Smart Digital Media
Patrick Merel, Ph.D., Founder & CEO, Portable Genomics

> Sponsored Presentation (Opportunities Available <http://www.triconference.com/click-thru/127354/?email=avivalev-ari@alum.berkeley.edu> )

The Ethical and Social Implications of Direct-to-Consumer Genetic Testing
Sandra Soo-Jin Lee, Ph.D., Senior Research Fellow, Center for Biomedical Ethics, Stanford University Medical School

THE IMPACT AND EVOLVING ROLE OF GENETIC COUNSELING

Next-Generation Genetic Counseling
Ramji Srinivasan, CEO & Co-Founder, Counsyl

TDTC(CC) – Consumers, Clinicians and Counseling
Erica Ramos, MS, CGC, Clinical Genomics Specialist, Certified Genetic Counselor, Translational and Consumer Genomics, Illumina, Inc.

For exhibit and sponsorship information, including sponsored podium presentations <http://www.triconference.com/click-thru/127354/?email=avivalev-ari@alum.berkeley.edu> , please contact:

Jon Stroup (Companies A-K)
Manager, Business Development
Cambridge Healthtech Institute
T: (+1) 781-972-5483
E: jstroup@healthtech.com

Joseph Vacca (Companies L-Z)
Manager, Business Development
Cambridge Healthtech Institute
T: (+1) 781-972-5431
E: jvacca@healthtech.com

Cambridge Healthtech Institute’s Second Annual

Part of the 21st Annual Molecular Medicine Tri-Conference
February 13-14, 2014 | Westin St. Francis | San Francisco, CA

Cambridge Healthtech Institute’s Second Annual Genomics in Medicine symposium will provide insight into common implementation issues as they relate to practicing clinicians, as well as address the evolving role of genomics in guiding diagnoses and treatments. Special focus will be given to processing and delivering complex data to the practicing physician. Integration of decision-making tools with existing patient records will also be discussed. This symposium will provide a forum for those hoping to learn more about genomic medicine as well as those currently practicing and looking for an update on the field’s latest advances.

Thursday, February 13

7:30 am Registration and Morning Coffee

RETURNING GENOMIC INFORMATION TO THE PATIENT

9:00 Chairperson’s Opening Remarks

9:05 KEYNOTE PRESENTATION:

Incidental Findings in Genomic Medicine: The Debate and the Data

Robert C. Green, M.D., MPH, Director, G2P Research Program; Associate Director, Research, Partners Center for Personalized Genetic Medicine, Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School

Genomics is being rapidly integrated into medicine with many unanswered questions about how and how much risk information should be communicated, and how such information will influence physician and patient behaviors, health outcomes and health care costs. This presentation will summarize data from over 10 years of experimental work in translational genomics and health outcomes, discuss recent ACMG recommendations for incidental findings and preview results from our newest NIH-funded studies, the ongoing MedSeq Project and the recently funded BabySeq Project.

9:35 Genomic Medicine Implementations for Primary Care

Erwin Bottinger, M.D., The Irene and Dr. Arthur Fishberg Professor of Medicine; Director, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine, Mount Sinai

Increasingly, genomic discoveries provide opportunities to personalize medication use and prediction and prevention of common chronic diseases. However, effective integration of genomic medicine in busy primary care practices is hampered by multiple barriers, including provider education gaps and negative impact on clinical workflow. Innovative programs for real-time, point-of-care integration of genomic medicine for primary care providers through genome-informed clinical decision support enabled in electronic health records will be presented.

10:05 Ethical Issues Related to the Return of Incidental Findings in Children/Families

Ingrid A. Holm, M.D., MPH, Director, Phenotyping Core, Program in Genomics, Divisions of Genetics and Endocrinology, Boston Children’s Hospital

10:35 Coffee Break with Exhibit and Poster Viewing

EMERGING TOOLS TO ENABLE PHYSICIAN USE

11:05 Reducing the Complexity of Clinical Omics Reporting for Clinicians and Laboratories

Jonathan Hirsch, Founder & President, Syapse

Syapse has built a cloud-based software platform that enables the use of omics at the point of care through an interactive web portal. We will describe how clinical omics labs use the Syapse platform to maintain an evolving omics knowledgebase which drives updated clinical reporting through interactive, intuitive interfaces designed for ease of use and comprehension. We will describe how hospitals use the Syapse platform to place omics results in the context of clinical guidelines, enabling physicians to easily adopt and integrate omics into their clinical workflow.

11:35 Beyond Sequence: Integration of Full-Genome Technologies for Personalized Medicine in the Clinic

Raphael Lehrer, Founder and Chief Scientist, GeneKey

Here we describe how we have used a combination of multiple full genome technologies to triangulate on key dysregulated mechanisms in a patient’s sample. By using a combination of systems biology and statistical analysis, we are able to draw conclusions far more precise than one could from sequence alone. We describe how we have applied in the clinic with patients and their oncologists and what we have seen/learned to date, including cases where the dysfunction is not mutation-based.

Testing for Multiple Genetic Mutations via NGS for Patients: Very Strong Family History of Breast & Ovarian Cancer, Diagnosed at Young Ages, & Negative on BRCA Test

Posted in CANCER BIOLOGY & Innovations in Cancer Therapy, Genome Biology, Genomic Testing: Methodology for Diagnosis, Health Economics and Outcomes Research, Patient Experience: Personal Memories of Invasive Medical Intervantion, Population Health Management, Genetics & Pharmaceutical, tagged Albert Einstein College of Medicine, Andrew Rosenthal, Angelina Jolie, BRCA mutation, genetic testing, Montefiore Medical Center, Myriad Genetics, ovarian cancer on May 20, 2013| Leave a Comment »

Testing for Multiple Genetic Mutations via NGS for Patients: Very Strong Family History of Breast & Ovarian Cancer, Diagnosed at Young Ages, & Negative on BRCA Test

Reporter: Aviva Lev-Ari PhD, RN

Article 9.2.Testing for Multiple Genetic Mutations via NGS for Patients: Very Strong Family History of Breast & Ovarian Cancer, Diagnosed at Young Ages, & Negative on BRCA Test

Published: May 16, 2013

To the Editor:

For Op-Ed, follow@nytopinion and to hear from the editorial page editor, Andrew Rosenthal, follow@andyrNYT.

In her thoughtful article about her choice to undergo a double mastectomy, Angelina Jolie said the cost of genetic testing for BRCA1 and BRCA2 mutations “remains an obstacle for many women” (“My Medical Choice,” Op-Ed, May 14).

Our BRACAnalysis test has been used by more than a million women to assess their risk of hereditary breast and ovarian cancer.

The test remains widely reimbursed by insurance companies, with more than 95 percent of at-risk women covered and with an average out-of-pocket cost of about $100. And, thanks to preventive care provisions in the Affordable Care Act, many patients can receive BRACAnalysis testing with no out-of-pocket costs.

For patients in need, Myriad offers a patient assistance program that offers testing at reduced costs or free of charge.

PETER MELDRUM

President and Chief Executive

Myriad Genetics

Salt Lake City, May 16, 2013

To the Editor:

“Jolie’s Disclosure of Preventive Mastectomy Highlights Dilemma” (front page, May 15) discusses Angelina Jolie’s decision to undergo prophylactic surgery after testing positive for a BRCA1 mutation. It should be noted that not all hereditary breast and ovarian cancer is attributable to mutations in BRCA1 and BRCA2.

An alternative dilemma exists when a patient has a very strong family history of breast and ovarian cancer, especially diagnosed at young ages, and the BRCA test is negative.

The patient is left wondering what to do next. These patients should consider a new method of testing for multiple genetic mutations via next-generation sequencing, which can often be ordered as part of a research protocol in academic centers.

SUSAN KLUGMAN

Bronx, May 15, 2013

The writer, a clinical geneticist, is director of reproductive genetics at Montefiore Medical Center and an associate professor at Albert Einstein College of Medicine.

http://www.nytimes.com/2013/05/17/opinion/genetic-testing-for-women-at-risk-of-cancer.html?src=recg