Question 80 of 433
Should I have my whole genome sequenced?
The short answer
SOMETIMES. About 1 person in 30 carries a gene change that would alter their medical care, and most do not know it. The rest of the report is mostly uncertainty.
In a health system that sequenced more than 175,000 patients, about 3 percent had an actionable result, most commonly for hereditary breast and ovarian cancer, Lynch syndrome, or inherited high cholesterol. Those three conditions have proven treatments, and finding them saves lives.
The difficulty is everything else: variants of unknown meaning, small risk shifts you cannot act on, and findings that affect your relatives and your ability to buy life or long-term-care insurance. If your family history suggests an inherited condition, targeted testing with a genetic counselor is the better route. If you sequence everything, do it with a counselor too.
“This book is for education. It is not medical advice, and reading it does not make you my patient or create a doctor-patient relationship.” From the book’s medical disclaimer. Full disclaimer
OBSERVATIONAL YIELD — Genomic screening can find actionable variants; universal screening survival benefit remains unresolved.Evidence grade (draft mapping)CObservationalPart 5, Q80 · Part sources
From Longevity Unmasked by Afshine Ash Emrani, MD, FACC. Medical disclaimer. This book is for education. It is not medical advice, and reading it does not make you my patient or create a doctor-patient relationship. Nothing here is meant to diagnose, treat, cure, or prevent any disease. Medicine is personal: a test, drug, supplement, or exercise plan that helps one person can harm another. Do not start, stop, or change any medication or treatment because of something you read in these pages. Talk with a licensed clinician who knows your history first. If you think you are having a medical emergency, call 911. The author disclaims responsibility for any loss or harm arising from use of the information in this book.