Raw research findings for this medication. Mostly single studies, not curated or confirmed robust.
Ivacaftor/lumacaftor is a combination CFTR modulator for cystic fibrosis: lumacaftor helps the F508del form of the CFTR protein fold and reach the cell surface, and ivacaftor holds its channel open. It is approved for people with two copies of F508del, from early childhood. It is sold as Orkambi.
Whether it works depends on CFTR, the gene behind cystic fibrosis: it is approved only for people homozygous for F508del (rs113993960, the most common cystic fibrosis variant), a finding rated at PharmGKB's highest level. All studies on this page concern CFTR variants. Because lumacaftor speeds up CYP3A4, it lowers the levels of many other medicines.
Every published finding on gene variants and Orkambi. Upload your DNA file to see which of these rows apply to you.
PharmGKB weighs all studies of a variant and rates how strong the evidence is, from 1A (strongest) to 4.
CFTR rs113993960: Level 1A · replicated. Efficacy: Cystic Fibrosis. 11.
CFTR rs121909011: Level 3. Efficacy: Cystic Fibrosis. 1.
CFTR rs113993960: Level 3. Toxicity: Cystic Fibrosis. 1.
CFTR rs74551128: Level 3. Efficacy: Cystic Fibrosis. 1.
Studies of how well it worked in people carrying a variant.
Study findings and evidence levels: PharmGKB (CC BY-SA 4.0). Guidelines: CPIC and DPWG, as bundled in PharmCAT. Most studies were done mainly in people of European ancestry.
More drugs from the same category
Not a prescribing recommendation. This page is educational information about pharmacogenomic research and clinical guidelines - it is not medical or dosing advice, and not a prediction of how any medication will work for you. Never start, stop, or change a medication or dose based on it; talk to your doctor or pharmacist, who can order clinical-grade testing if appropriate.
Content updated September 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com