The pace of technology used in identifying genomic variants (changes in DNA) has been increasing at a rapid rate, and the career of Christa Lese Martin has been swept along with the improving technology. Martin’s postdoctoral training at the University of Chicago began by using Giemsa banding, or G-banding, to look at abnormalities in chromosomes. G-banding is a method that gives each chromosome a unique banding pattern and allows differences from what is normal to be detected. Newer technologies using DNA-based probes, called chromosomal microarrays, that Martin helped develop,  allowed researchers to look along the length of every chromosome for abnormalities, much like G-banding, but at a much higher resolution; a significant percentage of abnormalities could be detected that were not detectable by G-banding. As Martin says, “This rapid evolution was where my interest in technology development began, and we wanted to discover better ways to continue to identify these chromosome abnormalities from a research and clinical perspective.”

Chromosomal microarrays have allowed researchers such as Martin to identify many new genomic variants and syndromes. Consequently, Martin has worked towards the development of a clinical genomics database to share information on these genomic variants and help inform better clinical care. This project stems from her work (in conjunction with David Ledbetter, PhD, Geisinger’s Chief Scientific Officer) with the International Standards for Cytogenomic Arrays (ISCA) Consortium. They launched a project to create a database for clinical and research purposes that collects CNV data in a de-identified way, but that encourages uniformity in terms of interpreting results across different clinical laboratories. This database is particularly significant for researchers and clinicians working with patients who have rare CNVs; these single cases often don’t make it into the scientific literature, so this database allows clinicians and researchers to share data they might not otherwise have known about. NIH has developed a new database, ClinVar, based on this original CNV database, which now includes other types of DNA sequence variants. As Martin describes it, “Our ultimate goal is to improve data sharing among laboratories and clinicians to guide clinical interpretation of genomic variation–something that is becoming a part of medical practice every day.” In 2014, Martin, along with other researchers, launched GenomeConnect to enable patients to contribute their data to this database and engage them in the data sharing process.

Erin Rooney Riggs is a certified genetic counselor.  She received her Master's degree in Genetic Counseling at Northwestern University in 2007, and started her career as a clinical genetic counselor and research coordinator at Emory University.  She worked at Geisinger from 2013-2017 as a coordinator for the Clinical Genome Resource (www.clinicalgenome.org). Erin continues her work with ClinGen and is an assistant professor at Geisinger's Autism and Developmental Medicine Institute.

Juliann Savatt received her Master of Science in Genetic Counseling from UNC Greensboro in 2015. She is a board certified and licensed genetic counselor who has served patients in the Geisinger Autism and Developmental Medicine Institute and Cancer Genetics Clinic in Pennsylvania. Juliann is now an assistant professor at Geisinger where she is involved in several research efforts including ClinGen's GenomeConnect.

Danielle Azzariti is a certified and licensed genetic counselor.  She trained at Brandeis University and has been working as a genetic counselor in the Boston area since 2009. She started her career as a clinical genetic counselor and research coordinator for the Massachusetts General Hospital Neurogenetics Program. She has been working at the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine since 2013 as a coordinator for the Clinical Genome Resource (www.clinicalgenome.org) and Matchmaker Exchange. 

Alexis Morgan graduated from Wilkes University in 2018 with a Bachelor of Science and minor in Neuroscience. She received her Master of Science in Genetic Counseling from Rutgers University in 2021. Alexis started her career at Geisinger as a Genetic Counseling Assistant where she was involved in both clinical and research work until graduate school. Alexis is interested in contributing with data sharing of genomic information to assist in better interpretation for individuals with genetic test results.

Caitlin Cooney is a board certified and licensed genetic counselor with experience working in clinics, laboratories, and health-tech startups. She received her master’s degree in Genetic Counseling from Sarah Lawrence College in 2014 and started her career as a clinical genetic counselor for two large NYC hospitals. She later focused on tele-counseling for various genetic tests and supported a large team of laboratory genetic counselors. Caitlin is now genetic counselor with Geisinger and her role will be focused on supporting GenomeConnect. 

Elizabeth graduated from Bennington College in 2024 with a Bachelor of Arts in biology, and minor in environmental science. She joined Geisinger’s ClinGen team as a Genetic Counseling Assistant in June 2024. In this role, she supports GenomeConnect participant consent and data collection, and coordinates the Hereditary Cancer and General Gene Dosage Sensitivity working groups, as well as the Brain Malformation gene curation expert panel. In her free time, she enjoys baking, yoga, and reading books about ocean creatures.

Gabrielle graduated from the University of Illinois Urbana-Champaign in 2024 with a Bachelor of Science in Molecular and Cellular Biology. She joined Geisinger's ClinGen team as a Genetic Counseling Assistant in June 2024. In this role, Gabrielle supports GenomeConnect participant consent and data collection, and coordinates the Epilepsy gene curation expert panel, the Rett and Angelman-like Disorders variant curation expert panel, the Education, Coordination and Training working group, and the Neurodevelopmental Disorders clinical domain working group. In her free time, Gabrielle enjoys dancing classical ballet, making pancakes from scratch, and drawing.

Julia graduated from Dickinson College in 2024 with a Bachelor of Science in Neuroscience. She joined Geisinger’s ClinGen team as a Genetic Counseling Assistant in July 2024. In this role, Julia supports GenomeConnect participant data collection and coordinates the Intellectual Disability and Autism gene curation expert panels, the Cerebral Palsy gene curation expert panel, the gene curation working groups, and the JEDI Coordination Team. In her free time, she enjoys coffee shops, working out, reading, and spending time with friends and family.