Learn more about personalized proactive genetic testing with Dr. Goranka Tanackovic, CEO of Gene Predictis & member of Clinique La Prairie scientific committee. Gene Predictis is a pioneering Swiss company specialized in precision medicine offering innovative diagnostic tools based on genetics that allow tailored treatments for patients. After joining Gene Predictis as CEO in 2011, she changed the vision and the strategy of the company to help it develop first in class diagnostic products answering important medical needs, win numerous awards and develop its business significantly.
Personalized proactive genetic testing, or medically “actionable” genetic test, is a test that allows to identify risks for conditions that can be prevented, cured, or treated more efficiently, in particular if identified early. Examples of such tests are genetic tests related to cardiovascular diseases or cancers among others.
In 2013, the American College of Medical Genetics and Genomics (ACMG) compiled a list of genes associated with conditions that they formally defined as “medically actionable”. On the last update from 2022, the list counts 90 genetic conditions. It is recommended that genetic variants on this list should be reported to any patient undergoing genomic testing for traditional diagnostic purposes because of the effective, potentially life-saving, treatment options. This approach to preventive disease management was thus so-far essentially limited to patients undergoing clinical sequencing for a medical reason.
Clinique La Prairie, as a world leading-edge clinic, in collaboration with pioneering laboratory Gene Predictis, is among the first to offer such NGS-based medically actionable screening tests, as well as comprehensive professional accompaniment related to these tests. In particular, personalized proactive genetic testing requires a medical evaluation and consent is necessary.
The genes analyzed can be tailored to the elements of the personal and family history. Carrier screening (research of recessive mutations) can also be offered in the context of a parental project. The results of the analyses can be complex and may concern other family members, therefore they are accompanied by genetic counseling. Here are some potential uses of the results:
A heart rhythm disorder
The ability of genetic screening to identify individuals with genetically determined heart rhythm disorders has been clearly demonstrated.
The most frequently diagnosed disease is congenital long QT syndrome (LQTS), with the three most frequently involved genes being KCNQ1, KCNH2, and SCN5A. LQTS is characterized by heart rate corrected QT interval prolongation at the EKG and potentially fatal arrhythmias, leading to syncope and sudden cardiac death.
Identification of variants in these genes warrants cardiological evaluation and follow-up, with possible prescription of beta-blockers. An important consequence in terms of prevention consists of recommendations concerning medication and notably the lists of drugs to avoided. Lifestyle recommendations vary according to the gene involved, consisting for example of limiting physical stress (e.g. risk of drowning; KCNQ1 gene) or auditory stress (e.g. alarm clock; KCNH2 gene).
Familial cancers
Our body is permanently exposed to stress (oxidative stress, UV irradiation, pollution, etc) and so is true for our cells and genomic DNA. These stresses induce DNA damage that has to be repaired to maintain genomic integrity. Diverse DNA repairing enzymes are involved in this process, among them BRCA1 and BRCA2 proteins, encoded by the BRCA1 and BRCA2 genes.
In addition to female breast and ovarian/fallopian tube cancers, BRCA1 and BRCA2 mutations have been implicated in other cancers, namely prostate, pancreatic, colorectal, gastric, biliary and melanoma cancers. In the case of positive family history of certain cancers these genes can be sequenced and eventual pathogenic mutations identified early.
Identification of mutations in this genes will result with a medical follow-up to allow early cancer detection or eventually, in the case of cancer, early surgical interventions improving the chances of cure. In addition preventive measures can be proposed to lower the risk of cancer development, such as: medication to lower the chance of developing breast and ovarian cancer (tamoxifen or aromatase inhibitors), breast self-exam training and education starting at young age for both women and men, yearly screening with breast magnetic resonance imaging (MRI) and mammogram, possibly starting at a younger age, clinical screening for ovarian cancer with transvaginal ultrasound and CA-125 blood tests done regularly, prostate cancer screening in men starting at age 45 (especially for men with a BRCA2 mutation) and regular cancer screening in both women and men for skin, colon and pancreas cancer.
Contact our reservations team to learn more about this cutting-edge predictive genetic testing