JMIR Bioinformatics and Biotechnology

An increasing body of literature highlights the integration of machine learning with genomic data in psychiatry, particularly for complex mental health disorders such as schizophrenia. These advanced techniques offer promising potential for uncovering various facets of these disorders. A comprehensive review of the current applications of machine learning in conjunction with genomic data within this context can significantly enhance our understanding of the current state of research and its future directions.

The integration of chatbots in oncology underscores the pressing need for human-centered artificial intelligence (AI) that addresses patient and family concerns with empathy and precision. Human-centered AI emphasizes ethical principles, empathy, and user-centric approaches, ensuring technology aligns with human values and needs. This review critically examines the ethical implications of using large language models (LLMs) like GPT-3 and GPT-4 (OpenAI) in oncology chatbots. It examines how these models replicate human-like language patterns, impacting the design of ethical AI systems. The paper identifies key strategies for ethically developing oncology chatbots, focusing on potential biases arising from extensive datasets and neural networks. Specific datasets, such as those sourced from predominantly Western medical literature and patient interactions, may introduce biases by overrepresenting certain demographic groups. Moreover, the training methodologies of LLMs, including fine-tuning processes, can exacerbate these biases, leading to outputs that may disproportionately favor affluent or Western populations while neglecting marginalized communities. By providing examples of biased outputs in oncology chatbots, the review highlights the ethical challenges LLMs present and the need for mitigation strategies. The study emphasizes integrating human-centric values into AI to mitigate these biases, ultimately advocating for the development of oncology chatbots that are aligned with ethical principles and capable of serving diverse patient populations equitably.

Despite growing interest in the clinical translation of polygenic risk scores (PRSs), it remains uncertain to what extent genomic information can enhance the prediction of psychiatric outcomes beyond the data collected during clinical visits alone.

Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling are mostly used, which carry a risk of miscarriage. This has led to the need for a noninvasive and innovative approach to detect and prevent chromosomal abnormalities during pregnancy.

The rapid evolution of SARS-CoV-2 imposed a huge challenge on disease control. Immune evasion caused by genetic variations of the SARS-CoV-2 spike protein’s immunogenic epitopes affects the efficiency of monoclonal antibody–based therapy of COVID-19. Therefore, a rapid method is needed to evaluate the efficacy of the available monoclonal antibodies against the new emerging variants or potential novel variants.

Carcinoma of unknown primary (CUP) is a subset of metastatic cancers in which the primary tissue source of the cancer cells remains unidentified. CUP is the eighth most common malignancy worldwide, accounting for up to 5% of all malignancies. Representing an exceptionally aggressive metastatic cancer, the median survival is approximately 3 to 6 months. The tissue in which cancer arises plays a key role in our understanding of sensitivities to various forms of cell death. Thus, the lack of knowledge on the tissue of origin (TOO) makes it difficult to devise tailored and effective treatments for patients with CUP. Developing quick and clinically implementable methods to identify the TOO of the primary site is crucial in treating patients with CUP. Noncoding RNAs may hold potential for origin identification and provide a robust route to clinical implementation due to their resistance against chemical degradation.

Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems are facilitating this shift. By providing clinicians with detailed information for each patient and analytic support for decision-making at the point of care, digital health technologies are enabling a new era of precision medicine. Genomic data also provide clinicians with information that can improve the accuracy and timeliness of diagnosis, optimize prescribing, and target risk reduction strategies, all of which are key elements for precision medicine. However, genomic data are predominantly seen as diagnostic information and are not routinely integrated into the clinical workflows of electronic medical records. The use of genomic data holds significant potential for precision medicine; however, as genomic data are fundamentally different from the information collected during routine practice, special considerations are needed to use this information in a digital health setting. This paper outlines the potential of genomic data integration with electronic records, and how these data can enable precision medicine.

Genetic data are widely considered inherently identifiable. However, genetic data sets come in many shapes and sizes, and the feasibility of privacy attacks depends on their specific content. Assessing the reidentification risk of genetic data is complex, yet there is a lack of guidelines or recommendations that support data processors in performing such an evaluation.

The generative artificial intelligence (AI) model ChatGPT holds transformative prospects in medicine. The development of such models has signaled the beginning of a new era where complex biological data can be made more accessible and interpretable. ChatGPT is a natural language processing tool that can process, interpret, and summarize vast data sets. It can serve as a digital assistant for physicians and researchers, aiding in integrating medical imaging data with other multiomics data and facilitating the understanding of complex biological systems. The physician’s and AI’s viewpoints emphasize the value of such AI models in medicine, providing tangible examples of how this could enhance patient care. The editorial also discusses the rise of generative AI, highlighting its substantial impact in democratizing AI applications for modern medicine. While AI may not supersede health care professionals, practitioners incorporating AI into their practices could potentially have a competitive edge.

The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary disease that causes stroke and other neurological symptoms.

Current postpartum hemorrhage (PPH) risk stratification is based on traditional statistical models or expert opinion. Machine learning could optimize PPH prediction by allowing for more complex modeling.