NIH grant moves pathologists to the forefront of genomic medicine

December 21, 2012

A five-year, $1.3 million grant from the National Institutes of Health (NIH) funds an innovative program established by Beth Israel Deaconess Medical Center and the Training Residents in Genomics Working Group, with administrative and educational design support from the American Society for Clinical Pathology, to help pathologists understand genomics information and serve as primary consultants for physicians and patients in interpreting and acting on this data.

Chicago, Dec. 21, 2012--Today's consumers have ready access to genetic information with easy-to-order test kits routinely being marketed directly to them. Some of these services inform individuals of their risk factors for a list of treatable diseases--from glaucoma to Type 2 diabetes to different types of cancer.

But even as patients are learning the sometimes intricate details of their DNA, the question arises: Are their doctors equally as informed? To address this concern, in partnership with the American Society for Clinical Pathology (ASCP), Richard Haspel, MD, FASCP, of Beth Israel Deaconess Medical Center (BIDMC), was recently awarded a five-year, $1.3 million R25 grant from the National Institutes of Health (NIH) to further develop a resident genomic pathology curriculum, based on an initiative first developed three years ago.

"Although the completion of the Human Genome Project nearly a decade ago ushered in a new era of personalized medicine, when it comes to genomic testing and applications of this new data, the medical profession has lagged behind the business and technology communities in terms of preparation," says Dr. Haspel, Assistant Professor of Pathology at BIDMC and Harvard Medical School, in Boston. "As a result, while genetic testing kits are already available to consumers, by and large, physicians are not equipped to provide patients with guidance and advice to help them to interpret results."

Genomic technology has applications beyond direct-to-consumer testing, and has already been used to direct chemotherapeutic treatment and to identify the cause of rare genetic disorders. As directors of diagnostic laboratories, pathologists are in an ideal position to serve as "gatekeepers" of genomic medicine, helping to guide both physicians and patients alike in understanding genomics information to interpret and act on this wealth of data. It was in 2009 that BIDMC created the first genomic medicine training program for pathology residents (http://genomicmedicineinitiative.org/).

In 2010, building on this work and with the backing of the Pathology Residency Program Directors Section of the Association of Pathology Chairs, the Training Residents in Genomics (TRIG) Working Group was formed. With key administrative support from the American Society for Clinical Pathology (ASCP), this group, chaired by Dr. Haspel, consists of experts in molecular pathology, genetic counseling and medical education.

Using the BIDMC model as a starting point, the TRIG Working Group developed a revised curriculum, creating a series of four Powerpoint lectures with notes (available free at www.pathologytraining.org/trig_lecture.htm). It has also been actively involved in presentations at major pathology and genetics meetings, published a peer-reviewed article outlining a careful approach for teaching health professionals about novel technologies (Personalized Medicine. 2012; 9: 287-293), and helped create the first genomics-related questions for the ASCP Resident in-Service Examination (RISE) for pathology.

"This allows us to bridge the gap between genomic research and its application to patient care," says Dr. E. Blair Holladay, Executive Vice President of ASCP. "The analysis of whole genomic sequencing will have a major impact on the diagnosis and treatment of patients. As a leader in education, ASCP will help translate this research into practical, applied learning for resident pathologists."

The new NIH grant will enable Dr. Haspel and his collaborators to expand on the genomic medicine training program, create educational resources, including online modules, and to test efficacy at four residency programs. ASCP is providing a wide range of educational, administrative, and technical support for the delivery of the innovative educational solutions. It has added an annual survey and a quantitative test component in the RISE examination to measure the genomics knowledge, attitudes, and skills of pathology residents. In addition, ASCP is designing and providing delivery solutions that will include live and online multimedia educational programs.

"Pathologists direct clinical laboratories and have the expertise to ensure accurate testing and result reporting," Dr. Haspel explains. "It is our responsibility to prepare our trainees for the application of genomic testing to patient care."
-end-
About Beth Israel Deaconess Medical Center

Beth Israel Deaconess Medical Center is a patient care, teaching and research affiliate of Harvard Medical School and currently ranks third in NIH funding among independent hospitals nationwide. BIDMC is clinically affiliated with the Joslin Diabetes Center and is a research partner of the Dana-Farber/Harvard Cancer Center. BIDMC is the official hospital of the Boston Red Sox. For more information, visit www.bidmc.org.

About the American Society for Clinical Pathology

Founded in 1922 in Chicago, ASCP is a medical professional society with more than 100,000 member board-certified anatomic and clinical pathologists, pathology residents and fellows, laboratory professionals, and students. ASCP provides excellence in education, certification, and advocacy on behalf of patients, pathologists, and laboratory professionals. For more information, visit www.ascp.org.

Beth Israel Deaconess Medical Center

Related Personalized Medicine Articles from Brightsurf:

Implementing microbiome diagnostics in personalized medicine: Rise of pharmacomicrobiomics
A new Commentary identifies three actionable challenges for translating pharmacomicrobiomics to personalized medicine in 2020.

Implementing post-genomic personalized medicine: The rise of glycan biomarkers
An in-depth look at the science of glycobiology and glycan diagnostics, and their promise in personalized medicine in the current post-genomic era are featured in a special issue of OMICS: A Journal of Integrative Biology, the peer-reviewed interdisciplinary journal published by Mary Ann Liebert, Inc., publishers.

Personalized medicine for atrial fibrillation
The study, published in Europace, uses signals from implantable devices -- pacemakers and defibrillators -- to analyze electrical signals in the heart during episodes of atrial fibrillation.

Fruit flies help in the development of personalized medicine
It is common knowledge that there is a connection between our genes and the risk of developing certain diseases.

Expanding the limits of personalized medicine with high-performance computing
Imagine that you have a serious medical condition. Then imagine that when you visit a team of doctors, they could build an identical virtual 'twin' of the condition and simulate millions of ways to treat it until they develop an effective treatment.

Personalized medicine software vulnerability uncovered by Sandia researchers
A weakness in one common open source software for genomic analysis left DNA-based medical diagnostics vulnerable to cyberattacks.

'Organs in a dish' pave the way for personalized medicine in gut and liver disease
One of the most exciting advancements in stem cell research has been the development of organoid systems, which are organ-like three-dimensional structures that mimic their corresponding organ in vivo.

Understanding gene interactions holds key to personalized medicine, scientists say
Scientists outline a new framework for studying gene function -- not in isolation, gene by gene, but as a network, to understand how multiple genes and genetic background influence trait inheritance.

Mount Sinai researchers call for diversity in the next generation of personalized medicine
Researchers from the Icahn School of Medicine at Mount Sinai reveal that genomic data extracted from population biobanks across the globe contain much less ethnic diversity than desirable.

Researchers call for big data infrastructure to support future of personalized medicine
Researchers from the George Washington University, the US Food and Drug Administration, and industry leaders published in PLOS Biology, describing a standardized communication method for researchers performing high-throughput sequencing called BioCompute.

Read More: Personalized Medicine News and Personalized Medicine Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.