Understanding, Diagnosing, and Using Genetic Testing for Malignant Tumor of the Breast
Mammography, ultrasound, MRI and biopsy find breast tumors, while BRCA1 and BRCA2 results flag higher risk and steer treatment, screening and family decisions.
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
Understanding, Diagnosing, and Using Genetic Testing for Maturity-Onset Diabetes of the Young Type 1
Onset before age 25, diabetes across several generations and no obesity point to MODY 1; HNF4A testing confirms it, and sulfonylureas often work in place of insulin.
Understanding, Diagnosing, and Using Genetic Testing for Maturity-Onset Diabetes of the Young Type 2
Glucokinase stops sensing glucose properly when GCK is altered, leaving fasting levels near 100-150 mg/dL. Most people with this form manage without insulin.
Understanding, Diagnosing, and Utilizing Genetic Testing for Mitochondrial Complex III Deficiency Nuclear Type 1
Mutations in the BCS1L gene disrupt Complex III of the respiratory chain, and MC3DN1 can bring muscle weakness, developmental delays and organ dysfunction.
Understanding, Diagnosing, and Using Genetic Testing for Monomelic Amyotrophy
Muscle wasting in one limb, usually an arm, without sensory loss or pain points to monomelic amyotrophy. Cervical MRI, EMG and nerve conduction studies are used.
Understanding, Diagnosing, and Using Genetic Testing for Mutilating Keratoderma
Thickened skin on the palms and soles with constricting bands called pseudoainhum defines mutilating keratoderma, which GJB2 testing can confirm after a skin exam.
Understanding, Diagnosing, and Using Genetic Testing for Neurohypophyseal Diabetes Insipidus
Too little vasopressin leaves the body unable to conserve water, causing heavy urination and thirst; AVP gene analysis, a water deprivation test and MRI are used.
Understanding, Diagnosing, and Using Genetic Testing for Optic Atrophy with or without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy
Deafness, ophthalmoplegia, myopathy, ataxia and neuropathy can accompany the optic atrophy in OADOMAN; eye exams, audiometry, EMG and genetic testing guide diagnosis.