Prof. Dr. Sevim Işık, a Faculty Member of the Department of Molecular Biology and Genetics (English) at Üsküdar Üniversitesi Faculty of Engineering and Natural Sciences, provided information on the transformation in early diagnosis, preventive health, and treatment processes through genetic tests, artificial intelligence, and personalized medicine applications.
Genetic profile reveals disease susceptibility, metabolism, and drug response!
Prof. Dr. Sevim Işık stated that a gene map or genetic profile is a comprehensive analysis of the genetic diversity, mutations, and biological characteristics found in a person's DNA. She said, “The most critical genetic methods used in determining a genetic profile are WES (Whole Exome Sequencing) and WGS (Whole Genome Sequencing). While WES examines protein-coding regions that harbor mutations responsible for most diseases; WGS scans the entire genome (all the hereditary information we receive from our parents) in much greater detail.”
Prof. Dr. Işık stated that WES and WGS analyses are typically performed using DNA obtained from blood, saliva, or cheek swab samples. She added, “Genetic profile analysis can reveal an individual's susceptibility to diseases, metabolic characteristics, response to medications, and certain neurological or psychiatric risks. A genetic profile provides important clues not only about hereditary diseases but also about how complex diseases interacting with environmental factors might develop. Therefore, a gene map is critically important for early diagnosis, personalized treatment plans, and creating preventive health strategies.”
Artificial intelligence transforms into a personal health assistant with genetic data!
Prof. Dr. Sevim Işık noted that the importance of genetic profiles is steadily increasing today. She said, “Disease risks can be identified years in advance, treatment plans are personalized according to individual genetic makeup, and side effects can be reduced by determining drug sensitivity.”
Prof. Dr. Işık pointed out that artificial intelligence offers a capability far beyond human capacity, especially in analyzing large genetic datasets. She explained, “Advanced algorithms used today can calculate disease risk scores by scanning genetic mutations. For instance, they can identify future risks for diabetes, Alzheimer's, Parkinson's, colon and breast cancer, bipolar disorder, and cardiovascular diseases by calculating genetic risk scores. They can predict which patients will develop resistance to certain drugs and generate models on how tumors will behave in the future in cancer genomic analyses. In the near future, artificial intelligence will function like a 'personal health assistant' based on an individual's genetic map, playing a critical role in both early diagnosis of diseases and tailoring treatments to the individual.”
Genetic science is now also a guide in long-term health preservation!
Prof. Dr. Sevim Işık stated that the approach of artificial intelligence creating personalized preventive health plans has largely become possible today. She said, “Genetic test results are no longer just a report. By detecting carriers of hereditary diseases like thalassemia and cystic fibrosis, important insights can be gained for family planning.”
On the other hand, Prof. Dr. Işık noted that artificial intelligence forms the basis of personalized preventive health plans, from diet to sleep habits, stress management to exercise programs, and continued:
“Genetic data enables lifestyle recommendations for diet, sports, and sleep habits to be based on more scientific foundations and to be implemented effectively. Comprehensive monitoring models based on genetic data are used in some centers, especially at NPİSTANBUL Hastanesi, one of Turkey's and the world's pioneers. Genetic tests not only focus on early diagnosis and risk assessment of diseases but also allow for the determination of personalized treatment strategies. Particularly in neuropsychiatric diseases, drug sensitivity and resistance measurements can be made through pharmacogenetic tests; this allows for patient-specific decisions in the selection of antidepressants, antipsychotics, or other psychiatric medications. Furthermore, genetic susceptibility analyses are performed for neurodegenerative diseases like Alzheimer's and Parkinson's, and neuropsychiatric diseases like Schizophrenia and Bipolar disorder, and early follow-up programs are created based on this data. If there is a familial predisposition, regular MRI or EEG scans, blood tests, or neuropsychiatric evaluations can be planned to calculate the risk of disease onset before it even manifests. Pharmacogenomic tests also determine sensitivity and resistance to neuropsychiatric drugs, tailoring antidepressant and antipsychotic selections to the individual. These tests reduce side effects and accelerate treatment processes.
Furthermore, since genetic data reveals factors such as metabolic rate, fat storage tendency, vitamin-mineral deficiencies, and exercise response, it helps create personalized nutrition and lifestyle plans. All these applications demonstrate that genetic science is now a powerful guide not only for disease diagnosis but also for long-term health preservation.”
Genetic tests could become a standard tool in everyone's health roadmap!
Prof. Dr. Sevim Işık noted that the prevalence and cost of genetic tests vary greatly worldwide. She said, “Today in Turkey, these tests are accessible at many points, from university hospitals to private genetic diagnosis centers, and from neuropsychiatry-focused institutions to internationally accredited laboratories.”
Prof. Dr. Işık stated that there are a total of 88 Genetic Diagnosis Centers licensed by the Ministry of Health across Turkey. She added, “While some tests can be performed in state hospitals, the waiting times for results are long, and access is limited. Globally, the situation is somewhat different. In the US and Europe, genetic tests are covered by insurance in many countries, and WGS is increasingly preferred as a 'first-step' test in diagnosing rare genetic diseases. These tests provide significant advantages in early diagnosis and correct treatment planning. For genetic tests to become more accessible in Turkey, increased government support, expansion of laboratory infrastructure, and strengthening of private sector-university collaborations are necessary. When these steps are implemented, genetic tests will be able to become a standard tool in everyone's health roadmap, not just for research or private patients. Turkey's technological and financial steps in this area could open the doors to a new era for the health of millions of people.”
On the other hand, public awareness of genetic tests is still not at the desired level. Experts predict that within the next 10 years, screening genetic tests could be integrated into the family medicine system and become a standard part of individual health monitoring.”
A new era in medicine begins with the combination of genetic data, proteomic analyses, and artificial intelligence!
Prof. Dr. Sevim Işık said, “With the combination of genetic data, proteomic analyses, and artificial intelligence, we are truly on the threshold of a new era in medicine,” and noted that a major transformation is expected, especially in neurodegenerative diseases.
Prof. Dr. Işık reminded that when polygenic risk scores developed for Alzheimer's and Parkinson's, cerebrospinal fluid protein profiles, and advanced artificial intelligence models are combined, it is predicted that at-risk individuals can be identified 10–20 years before the onset of clinical symptoms of the disease. She stated, “There is similar progress in the field of psychiatry. Genetic sensitivity tests used for bipolar disorder and schizophrenia already provide many clues and will become much more comprehensive in the future, enabling personalized treatment pathways. In oncology, many tumor types, including breast, colon, prostate, and lung cancer, are progressing towards a point where they can be detected at an earlier stage thanks to genetic mutation analyses. With the widespread use of polygenic risk scores in cardiovascular diseases, individuals' future risks of heart attack or stroke will be able to be calculated much more precisely. Furthermore, autoimmune diseases such as rheumatoid arthritis, lupus, and celiac disease are also expected to be recognized earlier through genetic markers, and preventive treatment strategies are anticipated to be developed.”
Genetic tests are at a critical point for both economic and individual health!
Prof. Dr. Sevim Işık emphasized that early diagnosis is critically important, especially for complex and progressive diseases. She said, “For example, Alzheimer's disease is a condition that arises from the interaction of genetic and environmental factors and becomes almost impossible to treat as the disease progresses. Once clinical symptoms appear, treatment options remain limited, and existing medications can only alleviate symptoms.”
However, Prof. Dr. Işık stated that thanks to genetic risk analyses, the risk of Alzheimer's can be detected years in advance. She said, “Early diagnosis is critically important for both slowing progression and preserving quality of life. Moreover, early intervention significantly reduces care costs; research shows that by pre-determining the risk, future care costs can be reduced by 30–50 percent. Thus, patients' independent lifespan is extended, the burden on families is lightened, and the efficient use of healthcare resources is ensured across society. This example demonstrates how important genetic tests are for both economic and individual health.”
All these developments are seen as a strong indication that genetic science will revolutionize healthcare services in the coming years, both in terms of diagnosis and personalized treatment.”
Genome information is a personal data as important as our identity card!
Prof. Dr. Sevim Işık noted that the days when genetic tests cost tens of thousands of dollars and results were awaited for months are now behind us. She said, “Today, analysis times have shortened to days, and even hours in some centers. With next-generation sequencing technologies, the cost of genetic tests has decreased by approximately 80 percent in the last five years.”
Emphasizing that genome information has become personal data as important as our identity card, Prof. Dr. Işık concluded her words as follows:
Everyone knowing their own genetic profile will become commonplace…
“In the near future, everyone learning their own gene map could become a natural part of daily life. The cost of genome sequencing is expected to drop to around $50 within a few years. With the widespread use of at-home kits, AI-based health applications, and genetic counseling services, everyone knowing their own genetic profile could become commonplace after 2030. However, it must not be forgotten that such broad access needs to be carefully managed in terms of ethics, privacy, and data security. The misuse of genetic information could lead to disadvantages in terms of insurance, employment, or personal privacy.”
