What does a geneticist do?

In this episode, Dr. Anna Hurst discusses the multifaceted role of geneticists in healthcare, the diagnostic process for genetic conditions, and the importance of understanding dysmorphology. She explains the evolution of genetic testing, the significance of genetic counseling, and the challenges faced in the field, including insurance issues. She shares her personal journey to becoming a geneticist, emphasizing the importance of specialized training and the need for more professionals in the field. 

On This Episode We Discuss:

• Integration of genetics into healthcare
• The importance of family history in genetic evaluations and risk assessments
• The role of dysmorphology to provide insights into potential genetic syndromes
• The various pathways to becoming a geneticist

Anna C.E. Hurst, MD, MS, is an associate professor of medical genetics in the department of genetics at the University of Alabama at Birmingham and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. She trained as a genetic counselor at the University of South Carolina School of Medicine (Columbia) and then completed her medical degree at the Medical University of South Carolina (Charleston). She is a board-certified pediatrician who completed pediatrics residency at Wake Forest Baptist Health (Winston-Salem, NC) and a medical genetics residency at UAB. Hurst is a clinician for the UAB Undiagnosed Disease Program, skeletal dysplasia clinic, and general genetics, and she provides genetic inpatient hospital consultations for patients at UAB and Children’s of Alabama. Her clinical interests include dysmorphology and congenital anomaly syndrome delineation, and she serves on the Scientific Advisory Board for Facial Dysmorphology Novel Analysis (FDNA). Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs and incorporating phenotypic information into the interpretation of genomic data.

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Here are more resources related to today’s topic, “What Does a Geneticist Do?”

• American College of Medical Genetics, www.acmg.net
• National Society of Genetic Counselors, www.nsgc.org

• National Organization for Rare Disorders, www.rarediseases.org

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

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