Combining genetic identification and systems development.

Forensic Sequence STRucture Guide (FSSG)

The combination of genetic testing and system development is an area that has been rapidly developing in the medical and biotechnological fields in recent years. Data management systems and analysis software are essential for the efficient collection, analysis and reporting of genetic information and results. The relationship between genetic testing and system development is explained in more detail below.

1. What is genetic testing?

Genetic testing is a test that assesses an individual’s health, risk of disease and genetic disposition by examining DNA sequences.It has the following uses:

  • Assessment of disease risk: genetic assessment of the risk of developing diseases such as cancer, cardiovascular disease and diabetes.
  • Paternity tests and confirmation of blood relations.
  • Drug response (genetic variation in drug-metabolizing enzymes is examined to support the selection of the most appropriate drug for the individual).

Genetic testing involves large amounts of data, the analysis and interpretation of which requires sophisticated computations and statistical processing. This is where system development plays an important role.

2. The role of system development

To ensure efficient and accurate genetic testing, it is essential to develop systems that

(1) Data analysis systems

Genetic testing requires the analysis of large amounts of DNA data.System development involves the development of analysis tools and algorithms, such as

  • Next-generation sequencing (NGS) data analysis: large amounts of data obtained by DNA sequencing technology are rapidly processed to analyze specific genetic variants and disease risks.
  • Bioinformatics: software developed to analyze genetic information, using algorithms and statistical methods to compare DNA sequences and identify genetic mutations.

(2) Data management systems (LIMS)

LIMS (Laboratory Information Management System) is a system for managing the entire genetic testing flow. It is developed to efficiently manage samples, track data and report results.

  • Tracking samples: in the genetic testing process, it is important to track samples from the time they arrive at the testing laboratory until the results are available; LIMS manages the status of each sample in real time.
  • Data storage and security: genetic information is highly sensitive data, so it is important to protect its security and privacy. System development incorporates encryption technology and access controls to ensure data security.

(3) Result reporting systems.

The results of the genetic test are provided to the person tested and their doctor.This process requires a system for the easy presentation of results and appropriate feedback.

  • User-friendly interfaces: systems are needed to present the results of genetic tests in a form that is easily understood by the general public. For example, tools have been developed to visualize risk assessments and health advice in an easy-to-understand manner.
  • Specialist reports for health professionals: for doctors and researchers, systems are needed to provide detailed genetic information, risk assessments and reports to help inform treatment decisions.

(4) Applications of AI and machine learning

Systems have also been developed that use artificial intelligence (AI) and machine learning to improve the accuracy of genetic data analysis.

  • Disease risk prediction: using AI, it is possible to combine vast amounts of genetic data with existing medical data to predict an individual’s disease risk.
  • Prediction of drug response: machine learning models are used to predict individual responses to specific drugs, contributing to the development of personalized medicine (precision medicine).

3. The benefits of genetic testing and system development

  • Increased accuracy and efficiency: system development has streamlined the analysis and management of genetic data, providing results more quickly and accurately.
  • Facilitating personalised medicine: personalised medicine (personalised medicine) based on genetic information will evolve, enabling the provision of optimal treatment for each patient.
  • Large-scale data exploitation: clinical research and the development of new treatments can be advanced if the system processes large-scale genetic data.

4. Future prospects

  • Personalised healthcare: in the future, advances in system development are expected to make personalised healthcare based on genetic information more common.This will provide preventive measures and treatments that are more tailored to individual health conditions.
  • Cloud-based platforms: cloud technology will make it easier to securely store and analyse genetic data and provide real-time analysis and results.

Summary

The integration of genetic testing andsystems development is revolutionising the biotechnology and healthcare sectors.Systems development supporting advanced data analysis, management and results reporting is enabling more accurate genetic testing and advancing personalised medicine and personalised healthcare.System development will continue to play an essential role in improving the efficiency and accuracy of genetic testing.

Supervisor of the article


Dr. Hiroshi Oka

Director of CAP Laboratory

Graduated from Keio University, Faculty of Medicine

Doctor of Medicine

Medical Doctor