Fundamentals of Molecular Diagnostics 2007

Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer.

Molecular diagnostics are increasingly used to help guide targeted therapy in solid organ tumors and hematologic malignancies. A large proportion of molecular testing is performed on limited-volume samples obtained via minimally invasive techniques, such as fine needle aspiration. Increasingly, cytopathologists play an essential role in this process, both in the triage of specimens during rapid on-site evaluation and in the evaluation of archival samples to determine suitability for ancillary testing. Therefore, it is imperative that practicing cytopathologists stay abreast of up-to-date diagnostic, prognostic, and predictive ancillary tests that can be used on limited cytologic material. This is a challenge since the landscape of known genomic alterations is constantly evolving and the subsequent set of testing options is ever expanding.

Molecular diagnostics are increasingly used to help guide targeted therapy in solid organ tumors and hematologic malignancies. A large proportion of molecular testing is performed on limited-volume samples obtained via minimally invasive techniques, such as fine needle aspiration. Increasingly, cytopathologists play an essential role in this process, both in the triage of specimens during rapid on-site evaluation and in the evaluation of archival samples to determine suitability for ancillary testing. Therefore, it is imperative that practicing cytopathologists stay abreast of up-to-date diagnostic, prognostic, and predictive ancillary tests that can be used on limited cytologic material. This is a challenge since the landscape of known genomic alterations is constantly evolving and the subsequent set of testing options is ever expanding.