Jennifer Tovar, PharmD & Husna Rahim, PharmD
Can pharmacogenomics (PGx) reshape the diagnosis and treatment of rare diseases? Rare diseases, as the name implies, affect a small portion of the population. PGx offers a new avenue for precision medicine in rare disease management. Recent initiatives such as the 100,000 Genomes Project in the United Kingdom, and integrating PGx into the patient care continuum indicate that genetic testing and precision medicine have the potential to significantly improve diagnosis and treatment of rare diseases (Fu 2023).
Tremendous growth in rare disease research. Traditional attempts to treat rare diseases have been limited due to a lack of understanding of the mechanisms that drive these diseases (Gülbakan 2016). Results from studies using PGx to treat rare diseases are encouraging. For example, researchers have identified genetic variations associated with drug metabolism in patients with rare genetic disorders, such as cystic fibrosis and lysosomal storage disorders (Zhou 2022). By understanding how specific genetic variations impact drug response, healthcare providers can optimize treatment regimens for patients with these conditions.
Newborn Genomes Programme to test all newborns for genetic conditions. The 100,000 Genomes Project is focused on accumulating and sequencing genomic knowledge for rare diseases and cancers. Recent developments have revealed that approximately 25% of participants were diagnosed with a rare disease for the first time (2018). In conjunction with this project, other initiatives such as the Newborn Genomes Programme to identify and act upon rare genetic conditions in newborns are currently underway (2014). It is efforts such as these that hold immense promise for improving diagnosis and treatment outcomes.
80% of rare diseases are genetic in origin. PGx has become increasingly involved in the patient care continuum and has particular relevance in rare diseases. According to the National Human Genome Research Institute, about 80% of rare diseases are genetic in origin. By identifying genetic markers associated with rare diseases, healthcare providers can better predict how patients will respond to specific medications, allowing for more targeted and effective treatment strategies.
Learn more about UGenome’s Personalized Medication Service, ProPEx, or contact UGenome. You can also find case studies for UGenome’s bioinformatics services Metabolite Identification, Bone Metastasis Risk Analysis in Breast Cancer, Survival Analysis with gene signatures in cancer. Check out our some of our partners including Jura Health, Robust Diagnostics, Metfora Diagnostics, and TheraCea
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