Posted By: HGG Advances
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Tamara Roman to discuss her paper “Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?“
HGGA: What motivated you to start working on this project?
TR: I started this project as a postdoc, and my interests include variant classification and investigating the clinical utility and impact of exome sequencing.
HGGA: What about this paper/project most excites you?
TR: I appreciate that this was a very collaborative research project to assess exome sequencing in a clinical setting, and this project included the work of clinical geneticists, laboratory geneticists, genetic counselors, research faculty, and students. I really enjoyed both the research and the clinical component.
HGGA: What do you hope the impact of this work will be for the human genetics community?
TR: While exome sequencing can be useful in identifying pathogenic or likely pathogenic variants in conditions with a genetic etiology, variants of uncertain significance (VUS) may also be detected. These VUS can be challenging to interpret in the context of limited data, such as phenotype or functional data, and this highlights the importance of periodically evaluating emerging data to potentially reclassify variants.
HGGA: What are some of the biggest challenges you’ve faced as a young scientist?
TR: The field of genetics is rapidly evolving, and it can be challenging to stay updated and familiar with novel technologies and increased data.
HGGA: And for fun, what is one of the most fascinating things in genetics you’ve learned about in the past year or so?
TR: One of the most fascinating topics is the research on heritable immunization in mice to control Lyme disease. In a recently published study, Kevin Esvelt, PhD, and his group used genetic engineering in mice to express a monoclonal antibody against Lyme-disease-causing bacteria, which was inherited across generations.
Tamara Roman, PhD, is a Variant Analyst at UNC Health.