The clinically actionable genes
The genes doctors act on
the moment they are found.
The American College of Medical Genetics and Genomics maintains a list — ACMG SF v3.2, now over 80 genes — of variants so penetrant and so treatable that laboratories are directed to report them proactively, in any patient.[6][7] The rule is simple: if a mutation is found, the disease is highly likely — and a proven intervention exists if it is caught early.
Hereditary cancer syndromes
Knowing enables aggressive early surveillance — MRIs and colonoscopies — or preventative surgical management, proven to save lives when started early.
BRCA1 · BRCA2 · PALB2
Hereditary breast and ovarian cancer
MLH1 · MSH2 · MSH6 · PMS2
Lynch syndrome — colorectal and uterine cancers
APC
Familial adenomatous polyposis
TP53
Li-Fraumeni syndrome
PTEN
PTEN hamartoma tumour syndrome
VHL · RET · STK11
Von Hippel-Lindau, MEN2, Peutz-Jeghers
Cardiovascular disorders
A finding directs clinicians to beta-blockers, lifestyle modification or implantable defibrillators — preventing sudden cardiac arrest in people who feel perfectly well.
LDLR · APOB · PCSK9
Familial hypercholesterolaemia — early heart attacks, highly treatable
FBN1 · TGFBR1 · TGFBR2
Hereditary thoracic aortic aneurysms, incl. Marfan syndrome
MYBPC3 · MYH7 · TNNT2
Hypertrophic cardiomyopathy
KCNQ1 · KCNH2 · SCN5A
Long QT syndrome
RYR2 · CASQ2
Catecholaminergic polymorphic ventricular tachycardia
PKP2 · DSP · DSG2
Arrhythmogenic right ventricular cardiomyopathy
Metabolic & other treatable conditions
Early intervention — diet control, chelating agents, enzyme therapy or a simple anaesthetic swap — halts organ damage that would otherwise accumulate silently.
ATP7B
Wilson disease — copper overload, manageable with chelation
HFE
Hereditary haemochromatosis — iron overload, managed by phlebotomy
GAA
Pompe disease — enzyme therapy exists
RYR1 · CACNA1S
Malignant hyperthermia — a fatal reaction to standard anaesthesia, avoidable if known
HNF1A
Maturity-onset diabetes of the young
RPE65
Inherited retinal disease — eligible for targeted gene therapy
A selection from the ACMG SF v3.2 list, grouped by condition — not exhaustive. MyDNAComplete reads every gene on the list, completely, including the regions standard panels miss.[6][7]