MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Discover the role of genetic testing in understanding Brain Tumor-Polyposis Syndrome 2, its diagnosis, treatment, and family planning decisions.
Hand and foot malformations such as a broad distal phalanx of the thumb, syndactyly and polydactyly trace back to GLI3 mutations that testing can identify before birth.
Low BCHE enzyme activity prolongs the effect of drugs such as muscle relaxants, and because fluoride-based tests can miss the Japanese type, BCHE sequencing confirms it.
Dizziness and fainting can follow abnormal electrical conduction in the heart; variants in SCN5A, TNNI3K and DES have been linked to this non-worsening form.
Mouse work ties the Epha2 gene to cortical cataract in Cataract 38, while MT-CYB somatic mutations turned up in glaucoma but not in cataract.
Congenital cataracts with short stature, macrocephaly and minor skeletal anomalies define Cataract 43, and studies name BRD4, LIM2 and EPHA2 among the genes involved.
Germline changes in Rab43 and APC have been tied to colon cancer, and genetic profiling helps flag high-risk families and match advanced disease to treatment.
Red cells lacking Colton antigens can complicate transfusion; AQP1 analysis confirms the phenotype, identifies carriers and informs prenatal testing choices.