Introduction

A diplomate certified in Laboratory Genetics and Genomics is an individual with a U.S. or Canadian earned doctoral degree (M.D., D.O., Ph.D.), or equivalent, who can direct and interpret both clinical cytogenetic and molecular genetic analyses relevant to the diagnosis and management of human genetic disease. These individuals act as consultants in laboratory diagnoses for a broad range of molecular and chromosomal-based disorders, including both inherited and acquired conditions. 

Program History

Effective July 1, 2017, the American Board of Medical Genetics and Genomics (ABMGG) merged the specialties of cytogenetics and genomics and molecular genetics and genomics into a single specialty named “Laboratory Genetics and Genomics” (LGG). Kimberly Doheny, Ph.D., became Program Director in 2019. The program was accredited by the ACGME in December 2019.  

Training Objectives

Upon completion of this program, trainees will possess:

• the ability to supervise and direct the operations of a clinical molecular genetics or clinical cytogenetics diagnostic laboratory, including requisite technical expertise, understanding of quality control and quality assessment procedures and adherence to regulatory requirements (e.g., CLIA, CAP); 
• an understanding of the etiology, heterogeneity, variability, natural history and clinical management of disorders with a cytogenetic or molecular basis; 
• an understanding of basic molecular biology, chromosome biology and genomic mechanisms of disease; 
• the ability to select and apply the most appropriate current and evolving technologies, including karyotype, FISH, microarrays and next-generation DNA sequencing methodologies, to diagnose human disease;
• the ability to guide the development and validation of appropriate assays used in the evaluation of disorders with a chromosomal or molecular basis; 
• the ability to interpret a broad range of genetic diagnostic tests, including methodologies that assess for chromosomal aneuploidies, structural chromosome rearrangements, genomic copy number variants (CNVs), single nucleotide variants (SNVs), structural changes within single genes, and absence or loss of heterozygosity (AOH/LOH); 
• the ability to analyze various tissue types such as: tumors, cell free DNA, bone marrow, fibroblasts, and saliva;
• the ability to integrate clinical data (e.g., family history, physical examination, results of any diagnostic testing) into an individualized interpretation of laboratory results; 
• strong communication skills that facilitate discussion of laboratory results with referring providers, and that allow a team approach to guiding further testing and clinical management; 
• and the ability to communicate cytogenetic and molecular genetic laboratory results directly to patients, when necessary, and in conjunction with others members of the clinical team.