Experiences

Luca, 36 (Italy)

Pathogenic variant in F2 gene

Related Pathology: Deep vein thrombosis.
Implications: increased risk of thrombus development.
Action: Avoid long periods of physical inactivity, in case of prolonged immobility it may be necessary to administer anticoagulants.

“With myGenome I discovered that I have a genetic variant that increases my risk of thrombus, as I travel a lot by plane now I try to get up and move around, I find it an important information and that allows me to prevent easily”.

Anne , 48 (United Kingdom)

Pathogenic variant in HFE gene

Related Pathology: Hereditary Hemochromatosis.
Implications: Risk of hemochromatosis that can appear between 40 and 60 years of age.
Actions: Control of ferritin and transferrin levels along with periodic blood tests to avoid complications such as cirrhosis, hepatocarcinoma, heart failure, etc.

“I was surprised to learn that I have a variant that causes a disease called hemochromatosis, by which iron accumulates in my liver, at first I was scared but the doctor explained me that it’s possible to treat it and prevent complications. I am very satisfied because thanks to myGenome I can prevent a disease that I didn't know I could have”.

Márcia 51, (Brasil)

Pathogenic variant in ATM gene

Related Pathology: Cancer.
Implications: People with a mutation in the ATM gene have 2 to 4 times the risk of developing breast cancer and other types of cancer, including pancreatic cancer.
Actions: Establish a breast cancer screening plan tailored to your genetic information, as well as appropriate follow-up for other cancers. It is recommended to inform family members who may be at risk.

“Without myGenome I would not have started to do cancer-related follow-ups, thanks to the test my gynecologist has adapted my check-ups and health controls. Thanks to my result my sister has also been able to know that she is a carrier of the same mutation, the test has helped both of us”.

Elena 42, mother of Rodrigo 2 (España)

Pathogenic variant in LDLR gene

Related Pathology: Familial hypercholesterolemia.
Implications: People with mutations in this gene may present premature cardiovascular disease from childhood.
Action: Modification of diet and medication.

“Our pediatrician told us about genetic screening and we felt it was important to offer our son the most complete care. Thanks to myNewborn we discovered that our son has a pathogenic variant related to familial hypercholesterolemia. The pediatrician has given us guidelines to help us to prevent severe cardiovascular diseases that could occur in the future”.

Juan Pablo, 38 (Colombia)

Pathogenic variant in RYR2 gene

Related Pathology: Catecholaminergic polymorphic ventricular tachycardia (CPVT).
Implications: Arrhythmia and atrial fibrillation. Increased risk of infarction and sudden death.
Actions: Health controls and strength tests periodically. Family study.

“Following an episode of arrhythmia at altitude, my cardiologist recommended a genetic test that revealed a mutation related to arrhythmia and atrial fibrillation. Since then, I have been doing regular check-ups and have adapted my physical activity to this new situation.”