Prevention and Diagnostics

All of us carry mutations. Some manifest themselves, some remain unnoticed and can stay hidden throughout our lives. That’s why prevention is as crucial for genetic diseases as it is for others. There are several levels of prevention for genetic diseases:

• Regular check-ups and self-examinations This foundational method should not be underestimated. A simple blood test can indicate if something is amiss in our body. In more serious cases, it could signal the onset of leukemia. Self-examinations of breasts and testicles can detect lumps in the early stages of tumor development, making it possible to start increasingly successful treatments sooner. 
• -> Testicular cancer is the most common tumor disease in men aged 15-35 years. 
• -> In the Czech Republic, the occurrence of testicular cancer has nearly tripled in the past 35 years; in 2000, it was found in 7.7/100,000 men.

Targeted Examinations

If a family frequently experiences tumors or if relatives have died from tumors at a young age or other genetic diseases, it’s advisable to visit a genetic counseling center. There, genes associated with these diseases (e.g., the BRCA1 gene for breast cancer) can be examined. If a positive finding occurs, preventive treatment can commence. 

-> Every year, approximately 7,200 women are newly diagnosed with breast cancer. 

-> The typical age of a Czech patient with breast carcinoma ranges between 60-74 years.

Pre-Pregnancy Tests 

For planned parenthood, it’s possible to utilize genetic compatibility tests. This examination type, derived from parents‘ DNA from their blood, reveals if the couple is at risk of specific genetic diseases in their future child. Recessional diseases are most common. For instance, Cystic fibrosis is carried by 1 in 25 individuals. A carrier is a healthy person but has one damaged variant of the gene. If two carriers become parents, they have a 25% risk of birthing a child with this disease (or another with the same transmission mechanism). If a preconception test confirms this risk, a clinical geneticist can suggest risk-minimizing procedures, like assisted reproduction methods.

-> For cystic fibrosis, the mutated CFTR gene is almost 200,000 nucleotides long. Currently, over 2,000 mutations associated with this disease are known.

-> Presently, it appears in about 1 in every 2,500 to 4,000 births.

Embryo Examination during Assisted Reproduction 

Preimplantation genetic testing, conducted as part of assisted reproduction methods, occurs before the actual embryo transfer into the mother’s womb. It determines the number of chromosomes, structural chromosomal defects, and other genetic diseases. The goal is to enhance the process’s success and bring a healthy child to term. 

-> Currently, 25 percent of couples in the Czech Republic face conception challenges. 

-> In 2020, 39,981 artificial fertilization cycles were performed in the Czech republic.

Tests during Pregnancy 

During pregnancy, a woman undergoes a range of gynecological, biochemical, and imaging tests. This diagnostic process allows for the detection of various diseases in the unborn child (e.g., Down syndrome). Supplementary genetic examinations are only conducted in specific cases, like when hereditary diseases are prevalent in the family, upon positive results from screening and ultrasound examinations, or in pregnant women over 35 years old. 

-> The incidence of Down syndrome is 1:800 (1000).

-> Every year in the Czech Republic, 50 newborns are born with this syndrome.

Newborn Screening 

All children born in the Czech Republic are subjected to a newborn laboratory screening for inherited or congenital diseases using the dry blood spot method. This screening checks for 20 rare diseases, such as Cystic Fibrosis, inherited metabolic disorders, Phenylketonuria, and Spinal Muscular Atrophy. The early detection of these diseases allows for timely and effective treatment, preventing irreversible health consequences.

-> Roughly only 1 in 1,150 newborns has one of the diseases tested for in the newborn screening.

Genetic Tests Throughout Life 

Some ailments manifest later in life, like high cholesterol levels. Once Familial Hypercholesterolemia (FH) is diagnosed in a family member, genetic testing is done. This testing helps in identifying other family members who might have inherited the disorder. Once identified, the condition can be treated to lower blood cholesterol levels, thus reducing the risk of heart diseases.

Genetic tests and screenings play an increasingly significant role in today’s medicine. Thanks to these, we can detect the risk of various diseases at an early stage and take preventive measures before the diseases fully manifest. Early diagnosis and treatment can significantly enhance a patient’s quality of life and, in some cases, can even be life-saving. Looking ahead, we can expect further advancements in genetic testing and research, which will enable us to better understand our genetic code and how we can use this information to improve our health.

You can order your preventive genetic test for example at ghcgenetics.cz
You can schedule your preventive genetic examination for example at www.prenet.cz