Experiences Patient and Doctors Experiences They have already trusted Veritas Below you can discover the experiences of our patients and doctors, and what they think of us and what it has meant for them. PATIENTS DOCTORS 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.” Dr. Ángel Durántez Clínica Durántez Graduate in Medicine and Surgery, specialist in Physical Education and Sports Medicine. Pioneer in Spain in the development and application of Proactive Preventive Medicine and Age Management Medicine (Medicine for Healthy Aging). “Since the company VERITAS introduced me to its myGenome whole genome sequencing (WGS) service, the real utility of genetic studies in the prevention of relevant diseases became clear. During this time, I have been able to rule out the genetic risk of some of my patients' diseases and, on the other hand, I have been able to enhance preventive measures for certain genetic predispositions detected in them. Whole genome sequencing is something that I can now recommend to all my patients, regardless of their age. This information is valid for the rest of their lives and can be updated as science detects new mutations and genetic variants related to different diseases.” Dr. Óscar Beloqui Ruiz Clínica Universidad de Navarra Graduate and Doctor in Medicine. Associate Professor of Internal Medicine at the University of Navarra. Director of the Medical Checkup Unit of Clínica Universidad de Navarra since its creation in 2001. “Genes create the basis of our health and obtaining this knowledge can help maintain and improve future healthcare. Our experience with the Genomic Check-up program, although still incipient, is very positive because we have detected significant genomic traits in many of our patients that provide information for personalized lifestyle measures, surveillance and follow-up.” Dr. Harry F. König Medical Director- Dr. König & Kollegen Specialist in general medicine, naturopathic medicine, practicing private practice in Karlsruhe and Baden-Baden since 1994. “We recommend that our patients include the myGenome analysis into their overall preventive care medical check-ups. The comprehensive genetic report provides important information about a patient’s hereditary risk that allows our medical team to provide on-going sustainable support according to the individual’s needs.” Professor Rosalind Eeles Team Leader - 90's Project Clinician as well as a scientist, running both a laboratory at The Institute of Cancer Research, London, and a Cancer Genetics and Uro-Oncology Clinic at the ICR’s partner hospital, The Royal Marsden NHS Foundation Trust. “The 90S Study utilizes Whole Genome Sequencing (WGS) because it is of a different quality than the technology that the more recognized “Direct-to-Consumer testing” is based on. We have chosen to use WGS at ‘thirty-times depth’ because of the accuracy that it provides in detecting actionable germline mutations from an approved laboratory. The comprehensive results can then be confidently used for medical diagnostics”. Dr. Michael Sandberg Medical Director - 90's Project Specialist in internal medicine, cardiology, echocardiography and cancer medicine. “As a Family Physician with Prof Ros Eeles of The Institute of Cancer Research and Royal Marsden Hospitals we are co-leading a study of Whole Genome Screening in UK General Practice for actionable genes. This is in the asymptomatic population as well as those with a family history of disease. We are delighted to be partnering in this work with Veritas. Whole genome screening is complicated and needs a team of experience Consultant Geneticists to do safely together with excellent sequencing and analysis”.
