As evidence grows, genomic testing is being included in clinical guidelines and routine care. Healthcare professionals are being supported with training, decision tools and referral pathways to help integrate genomics into everyday practice.
Diagnosis
Genomics may be used to help support diagnosis by enabling clinicians to examine a person’s genes or genetic code for known variations. This approach is particularly valuable for rare and complex conditions, where symptoms may not clearly point to a single cause. By using health genomics, healthcare professionals can identify genetic variants that explain a patient’s clinical signs and symptoms more quickly and accurately. This can significantly reduce the time to diagnosis bringing clarity to families and guiding appropriate care sooner.
Treatment
Genomics can both change the way we use existing treatments and help create new treatments:
Targeted therapies
Targeted therapies use genomic information to identify and treat the exact genetic changes driving a disease. For example, if a cancer is caused by a change in a gene that makes a faulty protein, a targeted therapy might block that protein to stop the cancer from growing. Because these treatments focus on the root cause, they can be more effective and often have fewer side effects than traditional treatments.
Personalised medicine
Genomics enables personalised medicine by using a person’s genetic information to guide health care decisions. This approach can help choose treatments that are more likely to work for each individual, avoid those that may cause harm, and manage disease more effectively. Personalised medicine is already being used in areas such as oncology, cardiology and rare disease management.
Pharmacogenomics
Pharmacogenomics is a specialised area of personalised medicine that studies how a person’s genes may affect their response to medicines. Genomic testing can help predict which medications will be most effective for a particular person, for example in some types of lung cancer and breast cancer. Pharmacogenomic testing can also see if a person has an increased risk of a severe side effect from a particular medicine, for example treatments for epilepsy and certain chemotherapy medicines.
Prevention
Genomics is increasingly being used to help prevent disease by identifying individuals who may be at higher risk due to their genetic makeup. By analysing a person’s DNA, health professionals can detect genetic variants associated with increased susceptibility to certain conditions – sometimes long before symptoms appear. This enables earlier and more targeted interventions, such as enhanced monitoring or lifestyle adjustments, which may reduce the likelihood of disease developing.