Artificial intelligence will function like a “personal health assistant”

Experts state that genetic testing and artificial intelligence are opening the door to a fundamental transformation in healthcare, emphasizing that genetic tests will soon become a standard component of everyone’s personal health roadmap.

Explaining that genetic profiles enable disease risks to be predicted years in advance, Prof. Sevim Işık, a faculty member of the Department of Molecular Biology and Genetics (English), said: “A genetic profile provides crucial clues not only about hereditary diseases but also about how complex diseases that interact with environmental factors may develop. For this reason, a genetic map is of critical importance in early diagnosis, personalized treatment planning, and the development of preventive healthcare strategies.”

She also emphasized that artificial intelligence analyzes massive genetic datasets to create early warning systems for conditions ranging from diabetes and cancer to Alzheimer’s disease and cardiovascular disorders, while underlining that these developments must be carefully managed within ethical, privacy, and data security frameworks.

Genetic profiles reveal disease risk, metabolism, and drug response

Prof. Işık explained that a genetic map or genetic profile is a comprehensive analysis of the genetic variations, mutations, and biological characteristics found in an individual’s DNA.
“The most critical genetic methods used to determine a genetic profile are WES (Whole Exome Sequencing) and WGS (Whole Genome Sequencing). WES examines protein coding regions that contain mutations responsible for the majority of diseases, while WGS scans the entire genome in detail, covering all inherited genetic information from our parents,” she said. She noted that WES and WGS analyses are typically performed using DNA obtained from blood, saliva, or cheek swab samples. “Genetic profile analysis can reveal an individual’s susceptibility to diseases, metabolic characteristics, responses to medications, and certain neurological or psychiatric risks. A genetic profile offers significant insight into how not only inherited diseases but also complex diseases influenced by environmental factors may develop. Therefore, a genetic map is critical for early diagnosis, personalized treatment plans, and preventive health strategies,” she added.

Artificial intelligence is becoming a personal health assistant through genetic data

Emphasizing the growing importance of genetic profiling, Prof. Işık stated that disease risks can now be identified years in advance, treatments can be personalized according to genetic structure, and medication sensitivity can be determined to reduce side effects. She highlighted that artificial intelligence offers capabilities far beyond human capacity, especially in analyzing large genetic datasets. “Advanced algorithms can scan genetic mutations and calculate disease risk scores. For example, genetic risk scores can be generated for diabetes, Alzheimer’s, Parkinson’s, colon and breast cancer, bipolar disorder, and cardiovascular diseases. AI can predict which patients may develop resistance to specific medications and can produce models predicting how tumors may behave 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 disease detection and the personalization of treatments,” she explained.

Genetic science now guides long term health protection

Prof. Işık stated that the creation of personalized preventive health plans using artificial intelligence has largely become possible. “Genetic test results are no longer just reports. Carrier screening for hereditary diseases such as thalassemia and cystic fibrosis provides valuable foresight in family planning,” she said. She further explained that artificial intelligence forms the basis of personalized preventive health plans, ranging from nutrition and sleep habits to stress management and exercise programs. “Genetic data allows lifestyle recommendations related to nutrition, physical activity, and sleep to be based on stronger scientific evidence and applied more effectively. Some centers, including NPİSTANBUL Hospital, one of the pioneers in Türkiye and globally, already use comprehensive monitoring models based on genetic data. These genetic tests focus not only on early diagnosis and risk assessment but also enable the development of personalized treatment strategies.

In particular, in neuropsychiatric disorders, pharmacogenetic testing can assess drug sensitivity and resistance, allowing personalized decisions in the selection of antidepressants, antipsychotics, and other psychiatric medications. Genetic predisposition analyses are also conducted for neurodegenerative diseases such as Alzheimer’s and Parkinson’s, as well as neuropsychiatric conditions such as schizophrenia and bipolar disorder, enabling early monitoring programs. When familial predisposition exists, regular MRI or EEG scans, blood tests, and neuropsychiatric evaluations can be planned to estimate disease risk before symptoms appear. Pharmacogenomic tests further identify sensitivity and resistance to neuropsychiatric medications, personalizing antidepressant and antipsychotic selection, reducing side effects, and accelerating treatment processes. Genetic data also reveals factors such as metabolic rate, fat storage tendency, vitamin and mineral deficiencies, and exercise response, supporting the creation of 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 testing may become a standard tool in everyone’s health roadmap

Pointing out that the availability and cost of genetic testing vary widely across the world, Prof. Sevim Işık stated: “Today in Türkiye, it is possible to access these tests through many channels, ranging from university hospitals and private genetic diagnostic centers to neuropsychiatry focused institutions and internationally accredited laboratories.”

Prof. Işık noted that there are currently 88 Ministry of Health licensed Genetic Diagnostic Centers across Türkiye. “Although some tests can be performed in public hospitals, result turnaround times are long and access is limited. Globally, the situation is somewhat different. In the United States and Europe, genetic testing is increasingly covered by insurance systems, and Whole Genome Sequencing (WGS) is gradually becoming a first line diagnostic test for rare genetic diseases. These tests offer significant advantages in early diagnosis and accurate treatment planning.

For genetic testing to become more accessible in Türkiye, increased state support, expansion of laboratory infrastructure, and stronger collaborations between the private sector and universities are essential. Once these steps are taken, genetic tests will no longer be limited to research or select patient groups but may become a standard tool in everyone’s health roadmap. Türkiye taking both technological and financial steps in this field could open the door to a new era in healthcare for millions of people.”

She also emphasized that public awareness of genetic testing remains below desired levels, adding that experts predict that within the next ten years, screening based genetic tests could be integrated into the family medicine system and become a routine component of individual health monitoring.

A new era in medicine is emerging through the integration of genetic data, proteomics, and artificial intelligence

“We are standing on the threshold of a new era in medicine through the integration of genetic data, proteomic analyses, and artificial intelligence,” said Prof. Işık, noting that a major transformation is expected particularly in neurodegenerative diseases. She explained that when polygenic risk scores for Alzheimer’s and Parkinson’s disease, cerebrospinal fluid protein profiles, and advanced artificial intelligence models are combined, it is anticipated that individuals at risk can be identified 10 to 20 years before clinical symptoms appear. “There is a similar advancement in psychiatry. Genetic susceptibility tests used for bipolar disorder and schizophrenia already provide important insights and are expected to become far more comprehensive in the future, enabling truly personalized treatment pathways. In oncology, many tumor types, including breast, colon, prostate, and lung cancers, are progressing toward being detected at much earlier stages through genetic mutation analyses. In cardiovascular diseases, the widespread use of polygenic risk scores will allow future heart attack and stroke risks to be calculated with much greater precision. In addition, autoimmune diseases such as rheumatoid arthritis, lupus, and celiac disease are also expected to be identified earlier through genetic markers, enabling the development of preventive treatment strategies,” she stated.

Genetic testing is critical for both economic sustainability and individual health

Emphasizing the critical importance of early diagnosis, especially in complex and progressive diseases, Prof. Işık said: “For example, Alzheimer’s disease arises from the interaction of genetic and environmental factors and becomes nearly impossible to treat as it progresses. Once clinical symptoms emerge, treatment options are limited, and existing medications can only alleviate symptoms.” However, she noted that genetic risk analyses can identify Alzheimer’s risk years in advance. “Early diagnosis is critical both for slowing disease progression and for preserving quality of life. Early intervention also significantly reduces long term care costs. Studies show that identifying risk in advance can reduce future care costs by 30 to 50 percent. This extends patients’ independent living periods, eases the burden on families, and ensures more efficient use of healthcare resources across society. This example clearly demonstrates the economic and individual health value of genetic testing.” She added that all these developments strongly indicate that genetic science will revolutionize healthcare services in the coming years, both in diagnosis and personalized treatment.

Genomic information is becoming as important as an identity card

Highlighting that the era when genetic tests cost tens of thusands of dollars and required months for results is now behind us, Prof. Işık said: “Today, analysis times have shortened to days and, in some centers, even hours. With next generation sequencing technologies, the cost of genetic testing has decreased by approximately 80 percent over the past five years.” Underlining that genomic information has become a personal data asset as important as an identity card, Prof. Işık concluded with the following remarks:

Knowing one’s genetic profile will become routine…

“In the near future, knowing one’s own genetic map may become a natural part of daily life. Genome sequencing costs are expected to fall to around 50 dollars within the next few years. With the expansion of home use kits, artificial intelligence-based health applications, and genetic counseling services, knowing one’s genetic profile may become routine for everyone after the 2030s. However, such widespread access must be carefully managed in terms of ethics, privacy, and data security. Misuse of genetic information could lead to disadvantages in insurance, employment, or personal privacy.”