Polygenic Risk Scores Could Give Physicians New Tools for Diagnosis and Treatment
For over a decade, genetic tests have been utilized to determine the risk of monogenic diseases, such as cystic fibrosis or Huntington’s Disease, which are caused by a single mutation. However, evaluating the risk for complex diseases that involve hundreds or thousands of genetic variants interacting with environmental factors remains a challenge.
Polygenic risk scores (PRS), also known as polygenic scores or genetic risk scores, account for the total number of genetic variants an individual possesses to estimate their inherited risk for developing a specific disease. Despite the need for further research to fully harness the potential of PRS in precision medicine, these scores offer the possibility of significantly influencing complex disease research and healthcare in several ways, such as:
- Estimating an individual’s disease risk
- Examining populations based on their risk of disease
- Identifying samples within cohorts for additional analysis
How to Polygenic Risk Scores are Calculated?
Explore how polygenic risk scores are developed, from design to validation
Sample Preparation Instructions
All clinical materials should be collected with approved methods to avoid contamination and cross contamination. A sterile environment must be maintained when collecting samples. Our sample preparation requirements are detailed in the table below:
| EDTA Blood | ≥ 1 mL |
| Buccal swab | 1 Oragene™ OCR-100 buccal swab collection set |
| Saliva | 1 Oragene™ OG-610 saliva collection set |
| Ready to use DNA | ≥ 1 µg For DNA samples, we recommend extraction using Qiagen kits, elution in water in 20 µL volume (min), plus evaluation of 260/280 Ratio (1.6 - 2.1) and fluorescent dye quantification of concentration (> 10 ng/µL) before sending. |
Sample Transport
EDTA Blood, buccal swab, saliva and DNA samples can be sent via regular mail at room temperature. Liquid blood is stable for up to 4 days during transport.
Shipping Instructions
Sample should be sent to:
AGTC Genomics Sdn Bhd (1428365-D)
J2-1, Pusat Perdagangan Bukit Jalil,
Jalan Persiaran Jalil 1,
Bukit Jalil,
57000 Kuala Lumpur,
Malaysia