Understanding, Diagnosing, and Using Genetic Testing for Nonsyndromic Deafness
More than 100 genes, among them GJB2, GJB6 and SLC26A4, are linked to hearing loss without other abnormalities. Carrier, prenatal and PGT options are outlined.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Decoding the Silence: Understanding Nonsyndromic Sensorineural Hearing Loss
Injury to the cochlea or auditory nerve keeps sound signals from reaching the brain; NSSHL affects about 1 in 1,000 newborns. Hearing and gene tests are explained.
Understanding Ochoa Syndrome: Diagnosis and the Role of Genetic Testing
Urinary tract abnormalities and a grimacing smile mark Ochoa syndrome. Covers clinical evaluation, urodynamic studies, HPSE2 testing and carrier screening.
Understanding, Diagnosing, and Using Genetic Testing for Orofacial Cleft
Cleft lip and cleft palate affect about 1 in 700 live births; genes such as IRF6, MSX1 and PAX9 act alongside environmental factors like maternal smoking.
Understanding Osteopoikilosis: Diagnosis and the Role of Genetic Testing
Small radiodense lesions found by chance on X-rays can be mistaken for metastatic disease; LEMD3 testing confirms osteopoikilosis and its autosomal dominant pattern.
Understanding, Diagnosing, and Using Genetic Testing for Pancytopenia
Falling red cell, white cell and platelet counts signal an underlying problem rather than a disease, from aplastic anemia to inherited bone marrow failure syndromes.
Decoding Papillary Renal Cell Carcinoma: Understanding, Diagnosing, and Genetic Testing
Discover the importance of understanding Papillary Renal Cell Carcinoma, its diagnosis, and how genetic testing plays a crucial role in treatment and management.
Understanding, Diagnosing, and Using Genetic Testing for Papillary Thyroid Carcinoma
A neck lump, hoarseness or trouble swallowing may be the first sign; ultrasound and fine-needle aspiration confirm it, and BRAF, RAS or RET/PTC testing informs care.