Department of Pathology

Division of
Molecular Pathology

Welcome to the Division of Molecular Pathology

Our Division, based in the James Cancer Hospital and OSUWMC Department of Pathology, provides clinical molecular diagnostics for a wide range of cancers and other heritable disorders. Our mission is to provide cutting edge, clinically responsible and cost-effective diagnostics for the patients of Ohio and beyond. Testing is performed at the Polaris Innovation Center (cancer assays) and at the Ackerman campus (inherited disorders).

MOLECULAR HIGHLIGHTS: Carrier Testing for SMA

The James Ackerman Molecular Pathology Laboratory at The Ohio State University has been a leader in diagnostic testing for spinal muscular atrophy (SMA) developing the first clinically available SMA carrier test. The laboratory’s Director Thomas Prior, PhD was also the principal author on the first guidelines for testing.

As of March 2017, the American College of Obstetricians and Gynecologists recommends that screening for SMA be offered to all women who are considering pregnancy or are currently pregnant (March 2017,Number 691). This recommendation expands upon a prior recommendation from the American College of Medical Genetics and is a welcome development. SMA is a clinically severe autosomal neurodegenerative disease with a carrier frequency similar to cystic fibrosis where population-based screening has been performed for many years. Expanding to screening to include SMA will provide additional critical information to women who may be at risk.

Note: It is important that formal genetic counseling services be made available to everyone having the carrier test. All identified carriers should be referred for follow-up genetic counseling for a discussion of risk. A negative screening test for one or both partners reduces but does not eliminate the possibility of an affected offspring, since the test sensitivity is less than 100% (See below). As is true for carrier screening programs, the testing must be voluntary and informed consent and assurance of confidentiality are absolutely necessary.

Ethnicity Sensitivity of SMA Carrier Screen
Caucasian 95%
Ashkenzai 90%
Asian 93%
African American 71%
Hispanic 91%

Data from Hendrickson BC et al. J Med Genet 2009;46:641.

Molecular Pathology is a medical specialty that seeks to integrate microscopic findings with the genetic changes associated with diseases such as cancer and inflammatory conditions. Goals of this work in cancer patients include more precise diagnostic classification, improved early detection of cancer and providing help in selecting therapies. Another important goal for Molecular Pathology in some cancers is more sensitive detection of low levels of disease to help guide when to continue or restart treatments to help lower the rates of relapse.

Our Clinical Laboratories: Leaders in Translational Research

  • Participation in multiple enrollment/targeted therapy cancer trials sponsored by the Alliance for Clinical Trials in Oncology (Polaris and Ackerman labs)
  • A leader in diagnosis of neuromuscular disorders with participation in the Muscular Dystrophy Cooperative Research Center (Muscular Dystrophy Association) and clinical trials and research initiatives for Spinal Muscular Atrophy (Ackerman lab)
  • In collaboration with the OSU Department of Genetics, assay development for the NIH-sponsored Molecular Screening for Hereditary Cancer projects (Ackerman lab)
  • Principal testing centers for the Ohio Colorectal Center Prevention Initiative (Polaris and Ackerman labs)
  • Led “Project Cure: SMN2 Copy Number Assay”, funded by the Families of SMA (Ackerman lab)
  • Advanced DNA sequencing methods: Ion Torrent and Illumina Platforms
  • Digital drop PCR
  • Computer-assisted Fluoresence Imaging for FISH
  • Custom gene sequencing panels
  • Integrated molecular cancer panels

Informatics & Molecular Diagnostics

The ongoing challenge of Molecular Pathology is to speed the practical application of genomics knowledge emerging from research labs and national initiatives to clinical decision-making in each patient. This involves computer-assisted analysis of sequence data and new methods to display results of genetic tests in the medical record. The Division has initiated a research program to develop new methods for sequence annotation.

dan jones

Dan Jones, MD, PhD

Professor, Division Director

View details »

Dr. zhao

Weiqiang Zhao, MD, PhD

Associate Professor-Clinical

View details »

Dr. prior

Thomas Prior, PhD

Professor

View details »