The Human Genome Project, which started in 1990 and was completed in 2003, succeeded in its goal of mapping the genes in human DNA. While conducting such research was significantly more difficult with the technology available during the project’s early years, technological advancements over time—especially in electronics and artificial intelligence—have increasingly contributed to the field of medicine. As a result, genetic research has become both more accessible and more affordable.
Thanks to modern medical advancements, we now know that humans have approximately 20,500 genes and around 100,000 proteins. Currently, the relationship between 6,000 to 8,000 of these genes and various diseases is understood. Research continues to discover the functions of the remaining genes and non-coding regions of DNA. These efforts include monitoring scientific publications from around the world—including Turkey—and integrating newly identified genes into ongoing studies.
This rapid progress in genetic science suggests that in the future, many diseases, including cancer, will be treated using genetic methods. Already today, when a genetic disease is suspected, the relevant gene is analyzed in the patient, a diagnosis is made through molecular methods, and personalized treatments (personalized medicine) are planned accordingly. Additionally, the patient is informed about other at-risk family members, and recommendations are provided to prevent the inheritance and recurrence of the disease across generations.
Currently, a major global focus is on the potential of genetic science in preventive and protective healthcare. It is now possible to identify certain diseases before they manifest and to immediately share a patient’s genetic susceptibilities with healthcare professionals during emergencies. Couples, for example, can undergo genetic testing before marriage to identify and manage potential risks to the baby and mother during pregnancy. The growing awareness of SMA (Spinal Muscular Atrophy)—a genetic disease that can develop in babies due to shared carrier status of the parents—demonstrates how genetic science contributes to preventive care. There are thousands of other rare genetic diseases, like SMA, with varying carrier frequencies across populations. In countries like Turkey, where consanguineous marriages are more common, these diseases are observed more frequently. The opportunities genetic science offers for early diagnosis of these conditions are groundbreaking for protecting and enhancing human life.
Of course, with our current medical knowledge, it is not yet possible to detect all potential diseases through genetic testing or to treat every diagnosed condition. At Intergen, the service we provide includes performing tests using gene panels developed through an extensive review of international literature, including data from the NHS (National Health Service) and ACMG (American College of Medical Genetics). We report pathogenic or likely pathogenic variants identified in these panels. Our goal is to inform you, within the scope of medical science, about conditions you may be predisposed to, that may develop symptoms in the future, or that could be passed on to your descendants.
Now is the time to take precautions before becoming ill.
What Can Be Done?
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The risk of having a child with a genetic condition can be reduced through pre-marital and pre-pregnancy screenings.
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Early-onset, fast-spreading familial cancer risks can be identified and mitigated.
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Globally discussed “expanded newborn screenings” can help prevent certain diseases during infancy and beyond.
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Genetic disorders are responsible for 65% of newborn intensive care cases and 30% of adult cases—these can be diagnosed early.
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In emergency departments, pre-existing but undiagnosed genetic conditions that often lead to misdiagnosis or complications during treatment can be identified in advance.
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The recurrence of familial diseases can be reduced, and precautions can be taken before symptoms appear.
All of these steps should be taken through proper genetic counseling and clinical briefing processes.
Preventing disease through accurate counseling reduces psychological burden and decreases both national and personal healthcare costs. At the current stage of genetic technologies, the global priority is to prevent diseases before they occur.