CLINICAL PRACTICE
Body of Knowledge for the Clinical Bioinformatician
All of the articles in the series are freely available in The Journal of Molecular Diagnostics.The Association for Molecular Pathology in spring 2025 published a three-part series of scientific papers outlining the essential bioinformatics roles, responsibilities and competencies for professionals working in clinical molecular diagnostic laboratories.
The series, titled “Clinical Bioinformatician Body of Knowledge: A Report of the Association for Molecular Pathology,” was published online ahead of print, and the full text is freely available in The Journal of Molecular Diagnostics.
The series represents the collaborative work of three subject matter expert working groups convened by AMP. Each paper reflects the published scientific evidence, available resources, established clinical practices and expert consensus opinions of the working groups.
AMP plans to periodically review and update the framework to ensure it remains relevant and actionable.
Perspectives from the steering committee
Somak Roy, Amber M. Fussell, Danielle Jordan, Sabah Kadri, Annette Leon, Ryan J. Schmidt, Robyn L. Temple–Smolkin and Jason D. Merker
Excerpt: "Many of the topics covered in these articles are broad and rapidly evolving; therefore, this Association for Molecular Pathology Clinical Bioinformatician Body of Knowledge article series is designed to provide an initial framework for the core bioinformatics skills required to function successfully within a molecular diagnostic laboratory."
Molecular diagnostics
Annette Leon, Eduardo Castro-Echeverry, Danielle Jordan. Amber M. Fussell, Nefize Sertac Kip, Angshumoy Roy, Carlos J. Suarez, Robyn L. Temple–Smolkin and Joshua Coleman
This article provides a comprehensive overview of key concepts in molecular biology, genetic variation, molecular diagnostics methodologies (with an emphasis on next-generation sequencing) and best practices in clinical laboratory operations.
Clinical bioinformatics and software
Sabah Kadri, Kelly E. Craven, Amber M. Fussell, Elaine P.S. Gee, Danielle Jordan, Eric W. Klee, Niklas Krumm, Robyn L. Temple–Smolkin, Ahmet Zehir, Weiwei Zhang and Andrea Sboner
This article provides a detailed look at the stages of a clinical bioinformatics pipeline, including associated skill sets and domain-specific expertise required throughout the process.
Clinical laboratory regulation and data security
Ryan J. Schmidt, Larissa V. Furtado, Amber M. Fussell, Danielle Jordan, Matthew Lebo, Aijazuddin Syed, Robyn L. Temple-Smolkin, Eric Venner, Elizabeth Worthey, and Alexis B. Carter
This article examines relevant regulatory requirements and best practices related to data security in laboratory environments, including hardware, software, networks and interoperability.
