Subscribe to Newsletter
Diagnostics Profession, Training and education, Genetics and epigenetics, Omics

Genomics for Pathologists

It took more than 10 years and billions of dollars to sequence the first human genome. Now, genomic testing has entered clinical practice, and areas as diverse as prenatal testing, microbiology, and oncology use next-generation sequencing methods. Even if they’re not directly overseeing molecular pathology laboratories, all pathologists are involved in clinical diagnostics and will be involved in genomic testing. For example, it is increasingly common for tumor specimens to require gene panel testing or even whole-exome analysis to determine treatment options. Even if an outside laboratory does the testing, it’s crucial for the pathologist to ensure appropriate sample identification, selection, and processing, as well as that the correct genomic test is ordered. If a sample with mostly normal tissue is sent, no matter how expensive and advanced a sequencer is used, the results will not be helpful (“garbage in, garbage out”). Furthermore, all results need to be integrated into the context of the histology report.

Even if they’re not directly overseeing molecular pathology laboratories, all pathologists are involved in clinical diagnostics and will be involved in genomic testing.

As such, I believe that pathologists must understand genomic testing. In 2010, a survey of residency directors in the USA – conducted through the Program Directors Section (PRODS) of the Association of Pathology Chairs – revealed that only 30 percent of residency programs incorporated any genomic pathology training. In response, through PRODS, the Training Residents in Genomics (TRIG) working group was formed to develop teaching aids and promote the importance of genomics education. From its inception, there was a uniquely collaborative approach within the group. Whereas many curricula are designed by single organizations in a single specialty, the TRIG working group includes experts in molecular pathology, educational design, medical genetics and genetic counseling.

Many education committees also stop at a list of competencies, without providing tools for implementation. So far, the TRIG working group has held 10 workshops to educate both practicing pathologists and pathology residents. These sessions use state-of-the-art teaching methods such as “flipped classroom” and “team-based learning (TBL).” Attendees bring their laptops and work in teams to answer clinical questions using online genomics tools. These highly rated sessions focus on a single breast cancer patient and topics include single gene testing, multi-gene panels and whole exome sequencing (1).

With funding from a National Cancer Institute R25 grant and education design support from the American Society of Clinical Pathology (ASCP), a workshop instructor handbook and toolkit have been developed to help others implement some or all components of the eight-hour curriculum. The 80+ page handbook contains workshop questions and answers as well as detailed information on teaching using the flipped classrom and TBL formats, preparation checklists, and tips for implementation. The toolkit has all the necessary handouts and PowerPoint lectures. Both the handbook and the toolkit are freely available at Since their release in December 2014, more than 200 individuals from 15 different countries have downloaded the materials.

Evaluation is a critical component of any curriculum. Since 2014, the TRIG working group has incorporated genomic survey and knowledge questions on the pathology resident inservice exam (RISE) (2). This exam, administered by ASCP, is taken by almost all pathology residents in the USA. An evaluation on such a large scale is unusual in medical education and provides a comprehensive picture of current pathology resident genomics training. The results from the 2014 exam show that program directors are recognizing the importance of genomic pathology, with almost 70 percent of the more than 2,500 residents surveyed reporting some training.

I firmly believe that all pathologists need to understand how to apply genomic methods.

Future goals for the TRIG working group include developing and assessing online modules. This will translate the in-person workshop learning experience into a virtual environment. In addition, workshops and courses continue to be held. There will be a three-and-half-hour course at the College of American Pathologists annual meeting (October 4–7, 2015, Nashville, TN, USA). The ASCP annual meeting (October 28–30, 2015, Long Beach, CA, USA) will feature a four-hour workshop for all attendees and an eight-hour workshop specifically for residents. There will be a similar resident workshop at the United States and Canadian Academy of Pathology Annual Meeting (March 12-18, Seattle, WA, USA). A “train-the-trainer” workshop is also being held at the American Society of Human Genetics annual meeting (October 6–10, 2015, Baltimore, MD, USA) to allow people who may teach this material to develop some expertise in flipped classroom and TBL methods.

I firmly believe that all pathologists need to understand how to apply genomic methods to patient care. The TRIG working group is making this possible through its unique and effective approach to genomic pathology education – an approach that can also be applied to other topics and specialties to benefit medical education on a larger scale.

Receive content, products, events as well as relevant industry updates from The Pathologist and its sponsors.
Stay up to date with our other newsletters and sponsors information, tailored specifically to the fields you are interested in

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

  1. RL Haspel, et al., “Educational innovation: using a team-based learning approach at national meetings to teach residents genomic pathology”, J Grad Med Educ, [In press] (2015).
  2. RL Haspel, et al., “Training residents in genomics (TRIG) working group. The current state of resident training in genomic pathology: a comprehensive analysis using the resident in-service examination”, Am J Clin Pathol, 142, 445–451 (2014). PMID: 25239410.
About the Author
Richard Haspel

After completing his laboratory medicine training at Brigham and Women’s Hospital, Richard Haspel joined the faculty at Beth Israel Deaconess Medical Center (BIDMC) and Harvard Medical School.  He originally planned to conduct stem cell research but became interested in medical education and completed related fellowship training.  “I recognized a need for a structured, evidence-based approach in pathology education.”   He is now director of the residency training program at BIDMC and has become involved in a number of educational research efforts.  Richard explains “In my current role, I am able to help apply advances in best teaching practices directly to residents in our program and to projects such as with genomics education.”

Register to The Pathologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Pathologist magazine