A recent study by several HCM genetics researchers around the globe, led by Australia’s Dr. Jodie Ingles, found that 2/3 of genetic mutations previously reported to patients as HCM causative may actually NOT trigger HCM.

Dr. Ingles and the researchers looked at 33 genes frequently reported to patients as causative for HCM in commercial genetic tests.  Surprisingly, of the 33 genes tested, only 8 were found to be definitively associated with HCM, 3 had moderate evidence to support their association with HCM and a whopping 22 or 66% of these genes were found to have limited or no association with HCM.

Mutations Definitive for HCM

MYBPC3           TPM1

MYH7               ACTC1

TNNT2              MYL2

TNNI3               MYL3

 

Mutations with Moderate Evidence for HCM

CSRP3

TNNC1

JPH2

These results should raise a red flag for consumers about genetic testing.  Results of genetic tests require careful and informed interpretation. For accurate results, HCM patients should undergo genetic testing under the supervision of a genetic counselor with experience in HCM.

Not all genetic counselors are alike!