Oct 18, 2024

With precision medicine, we’re moving toward a future where healthcare is truly customized, leading to better outcomes and improved quality of life for those with rheumatic diseases.

What is precision medicine?

Precision medicine is an innovative approach to healthcare that tailors medical treatment to the individual characteristics of each patient. This method takes into account various factors such as genetics, environment, lifestyle, and disease characteristics to develop personalized treatment plans. This way each patient can be treated in a more specific way that gives a better chance of improving health and preventing disease, rather than a one-size fits all approach.

How can genetic testing help in various rheumatology conditions?

1. Rheumatoid arthritis

  • HLA-DRB1 Testing in Rheumatoid Arthritis: Genetic testing for the HLA-DRB1 gene can identify patients at higher risk for developing rheumatoid arthritis. For example, individuals with the “shared epitope” alleles may be more likely to have a severe form of the disease. Knowing this, clinicians may choose to initiate aggressive treatment early to prevent joint damage.
  • PTPN22 Variants: The PTPN22 gene is associated with a higher risk of RA. Patients with specific variants may be closely monitored for early signs of the disease, enabling earlier intervention with disease-modifying antirheumatic drugs (DMARDs).

2. Systemic Lupus Erythematosus (SLE)

  • Genetic Markers: Variants in genes such as IRF5, STAT4, and TLR7 are associated with an increased risk of SLE. Genetic profiling can help identify individuals who are at higher risk, guiding monitoring and early intervention strategies.
  • HLA Typing: Certain HLA alleles (e.g., HLA-DR2 and HLA-DR3) are linked to increased susceptibility to lupus, helping in risk assessment.

3. Ankylosing Spondylitis (AS)

  • HLA-B27 Testing: The presence of the HLA-B27 antigen is a significant genetic risk factor for ankylosing spondylitis. Genetic testing for this marker can aid in the diagnosis and early treatment of AS.
  • Other Genetic Loci: Additional genetic variants, such as those in the ERAP1 gene, have also been linked to AS, providing further insights into individual risk profiles.

4. Psoriatic Arthritis (PsA)

  • IL-23 Receptor Variants: Genetic profiling may reveal variants in the IL-23R gene, which are associated with increased susceptibility to psoriatic arthritis. This information can help tailor treatment strategies, particularly with biologics targeting IL-23.
  • HLA-Cw6: The presence of the HLA-Cw6 allele is linked to an increased risk of psoriasis and, consequently, psoriatic arthritis. This is because people with psoriasis are at a much greater risk of developing psoriatic arthritis compared to the general population. Identifying this marker can assist with monitoring and preventive strategies.

5. Gout

  • SLC2A9 and ABCG2 Genes: Genetic variations in these genes are associated with urate transport and can influence an individual’s risk of developing gout. Genetic profiling can help identify patients at higher risk for hyperuricemia and gout attacks, guiding lifestyle recommendations.

6. Systemic Sclerosis (Scleroderma)

  • Genetic Markers: Variants in genes such as FAM167A and STAT4 have been associated with an increased risk of systemic sclerosis. Genetic testing can help in assessing the risk and understanding disease prognosis of scleroderma.

These genetic markers can help identify early signs and symptoms of rheumatologic disorders. By understanding your genetic risk, healthcare providers may be able to offer personalized lifestyle recommendations and early treatment strategies aimed at reducing the impact of disease and improving your overall health.

Medical Disclaimer:

The information provided on this website is for general informational purposes only and is not intended as medical advice. It should not be used to diagnose, treat, prevent, or cure any health condition or disease. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition or treatment.

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