A genome is a complete composition of genetic material in an organism, containing three billion base pairs of DNA and other genes. They are responsible for giving individuals unique characteristics, such as eye colour and height, as well as fundamental anatomy. Therefore, understanding the function of genes is crucial in recognising how the body functions and how to respond to illnesses effectively. Genomic medicine has been a key turning point in ensuring this is the case, with the Human Genome Project making the discovery of nearly 2,000 disease genes.
So, what is genomic medicine, and how is it changing the face of medicine? Genomic medicine is an advanced medical specialty that uses the genomic information of an individual to diagnose health conditions and health outcomes. Genomic medicine has made several advancements so far, including precision medicine and CRISPR, all of which have led to improved disease risk assessment, selection of therapy, and drug dosing.
Precision medicine is being used in oncology, leading to more accurate diagnoses and treatment strategies that are better suited to the patients’ tumours. It is being used by clinicians in helping to decide the best treatment approach by classifying the tumour based on its mutations and how it corresponds to drug sensitivities. Precision medicine has helped develop drugs to fight cancerous diseases by inhibiting enzymes that trigger the growth of cancerous cells, or by blocking aberrant gene expression characteristics. Imatinib is an example of a drug that has been developed to inhibit the overactivity of a protein, Bcr-Abl tyrosine kinase, which is responsible for causing chromosomal rearrangement resulting in leukemia.
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is constantly evolving; it deals with finding and altering DNA inside a cell. CRISPR-Cas9 technology is being used by scientists to edit the human genome. Recently, there has been proof that CRISPR-based genome editing can correct faulty genotypes. This means mutations that cause Huntington’s disease or cystic fibrosis, or the BRCA-1 and 2 mutations linked to breast and ovarian cancers, can potentially be edited using CRISPR-Cas9. For example, a cystic fibrosis patient had the transmembrane regulator sequence edited which resulted in stem cells differentiating into airway epithelial cells.
Genomic medicine is having life-changing impacts in the fields of pharmacology, oncology, rare and undiagnosed diseases, and infectious diseases. Therapies are being tailored to meet each patient’s specific needs, which allows clinicians to determine accurate treatment, leading to better outcomes and lower costs. Alongside this, genomics is capable of boosting health and well-being for entire patient populations, beyond just the level of the individual. Over the next five years, healthcare is expected to generate genomic data from over 60 million patients, potentially resulting in saving the lives of millions from incurable diseases.
In countries including France, the UK, Australia, Turkey, and Saudi Arabia, workforce and infrastructure development has been coupled with testing patients with rare diseases and cancer, two applications of genomic sequencing expected to have immediate clinical benefits. National Health Service (NHS) is a government-funded medical and health care service available to those living in the UK. NHS Genomic Medicine Service (NHS GMS) is a branch of the NHS, which works to harness the power of genomic technology and science to improve the health of our population. By 2023/24, NHS GMS aims to sequence 500,000 whole genomes and help transform health care for children with cancer or critical genetic disorders. Genomic medicine is a transformative technology, and we have a global responsibility of accelerating this process for the benefit of individual patients, families, and healthcare systems.
National Cancer Institute. (2017). Cancer Genomics Overview. National Cancer Institute. Available from https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview#:~:text=As%20a%20result%20of%20research,expression%20characteristic%20of%20cancer%20cells
National Institute of General Medical Sciences. (2017). Studying Genes. National Institute of General Medical Sciences. Available from https://www.nigms.nih.gov/education/Documents/Studying_genes_final.pdf
Roth, S.C. (2019). What is genomic medicine? Journal of the medical library association, 107 (3), 442-448. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579593/
Stark, Z., Dolman, L., Manolio, T.A., Ozenberger, B., Hill, S.L., Caulfield, M.J., Levy, Y., Glazer, D., Wilson, J., Lawler, M., Boughtwood, T., Braithwaite, J., Goodhand, P., Birney, E. and North, K.N. (2019). Integrating Genomics into Healthcare: A Global Responsibility. Elsevier, 104(1), 13-20. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323624/#:~:text=In%20countries%20such%20as%20the,to%20have%20immediate%20clinical%20benefits
The writer is student at the university of Westminster,London,UK