Key terms

Advanced therapeutics are treatments that use the latest science and technology to help improve outcomes and/or reduce side effects. Gene therapies are an example of an advanced therapeutic.

The goal is to create precise and effective treatments that are tailored to each person’s unique needs.

Artificial intelligence (AI) refers to computer systems that can assist in tasks that involve processing information, recognizing patterns, solving problems, and making decisions. These systems use data and algorithms to improve their performance over time, helping them adapt to new situations and work more efficiently.

AI in health care refers to the use of AI to assist health care professionals, administrators, and staff by analyzing data, identifying patterns, and supporting decision-making. These technologies help answer research questions or understand what impacts an individual’s health.

A biobank is a facility where de-identified biological samples and related health data are stored, collected from both patients and healthy individuals with their consent. It may contain samples such as blood, plasma, urine, and DNA, as well as samples of animal or plant origin.

Researchers regularly request access to these samples, as they provide essential support in the ongoing effort to solve important scientific problems. This helps translate scientific discoveries into better diagnostics and treatments for patients.

Biomarkers, also known as biological markers, are biological characteristics used to measure any cellular, molecular, chemical, or physical change. They help determine whether a process in the body is normal or abnormal when changes occur.

Biomarkers can be used to assess the risk of developing a disease, detect its presence, monitor its progression, or evaluate the effects of a treatment.

Data is information collected and used to learn. In health care, it may include details about each individual, such as their age, medical history, and test results.

Clinicians and scientists use this information to better understand health issues, develop improved treatments, and ensure patients receive the best possible care.

Data sharing enables the access, transfer or visitation of information between different individuals, groups, or organizations. Within the health-care system, this exchange of information is essential, and must be done safely and securely to ensure a person’s medical history remains private and protected.

Data sharing helps health-care professionals better understand diseases, develop new treatments, and improve the quality of care provided.

Gene-based therapy is a personalized treatment that targets specific genes to treat diseases. Health-care providers can add, remove, or modify genes within a cell to help a patient feel better.

This type of therapy can be used to treat genetic disorders, certain cancers, or other illnesses by targeting the problem right at its source: the gene.

Genome editing allows scientists and clinicians to focus on genes with the goal of correcting potential issues or making improvements.

It’s like editing a book — but instead of words, we are modifying the instructions encoded in DNA. If a part of a gene is “faulty” and cannot perform its function properly, gene editing can replace it and restore its original function.

Genomics is the study of the entire genome (all of someone’s DNA), rather than a single gene like in genetics, to understand how many genes interact and influence health.

This comprehensive approach helps to better understand complex diseases and adapt to each patient’s genetic profile. Genomics also includes other sciences known as “-omics,” which provide a broader view by analyzing thousands of indicators at once:

• Transcriptomics which evaluates which genes are turned on or off,
• Proteomics which looking at proteins produced by cells,
• Metabolomics examines small molecules resulting from metabolism.

For example, in the case of a person with a chronic respiratory infection, genomics can help identify a genetic predisposition. Transcriptomics may show that certain inflammation-related genes are highly active. Proteomics then reveals the presence of inflammatory proteins, and metabolomics can detect abnormal substances in mucus or blood.

Combined, this information helps to better understand the disease so treatment can be tailored accordingly.

A genome is the complete set of DNA in a living organism. Genome sequencing involves looking at the whole genome to determine the order of nucleotides (nucleic acid molecules) in each fragment of DNA. There are four different types: adenine, cytosine, guanine, and thymine and they’re arranged in a specific sequence, unique to each person or organism.

Genome sequencing reads all of them, one by one, across your entire DNA. This helps scientists understand what makes each person unique, find genes linked to diseases, and can help develop personalized medicine.

Patient partnering is a collaboration between patients, families and clinicians that aims to better understand health needs and find better treatments. Partnership is very important because patients hold valuable experiences and knowledge about their own health that help inform individualized care.

By including patients and people with lived experience, scientists can directly ensure the usefulness and relevance of their study topics. This partnership helps inform better methods of prevention, diagnosis, and treatment.

Pharmacogenomics is the study of genetic differences that directly influence how each person responds to a medication. It is important to understand how a given treatment may react in the body to adjust dosage and prescriptions accordingly.

This allows us to predict how a patient will respond to a treatment and thus prevent potential side effects.

Precision Child Health is a holistic approach to care that takes into account a child’s unique needs and characteristics, including their genetic code, biology, development, family and medical history, and their socio-economic context. It moves away from a one-size-fits-all approach to ensure every child receives individualized care tailored to them.

The development of advanced tools and new data approaches are paving the way for Precision Child Health to become a reality. This approach has the potential to transform health care, and improve the quality of life for children with complex and common conditions alike.