Fingerprick Blood Test Identifies Individuals Genetically Predisposed to Developing Osteoporosis

The worldwide rates of osteoporosis are soaring, yet public understanding of the disease and its risk factors is alarmingly inadequate. Following their first fracture, the quality of life for osteoporosis patients usually takes a steep decline, and a quarter of these individuals pass away within a year. Detecting the condition early is critical to lowering the risks of severe health consequences. The standard test for osteoporosis, known as dual-energy X-ray absorptiometry, often fails to detect the condition until substantial bone loss has occurred. But in the near future, people may be able to go to their doctor's office for a simple fingerprick blood test to find out if they are genetically predisposed to developing osteoporosis.

Researchers at the University of Rovira i Virgili (Tarragona, Spain) are developing a platform that uses SNPs—single nucleotide polymorphisms—to predict not only the risk of osteoporosis but also other health conditions like malaria and cardiovascular disease. The platform employs a unique electrode array device that screen-prints DNA sequences corresponding to different SNP types as gold dots. The biosensor then calculates a risk score by analyzing a blend of five specific SNPs that are crucial for assessing osteoporosis risk. This is based on a wide-ranging genetic analysis involving about 50,000 people who also had known family histories and lifestyle factors. The test is quick, taking roughly 15 minutes, and each SNP analyzed costs about 50 cents for reagents.

The researchers have bigger plans for the device, aiming to explore other types of biomarkers such as proteins and different RNA forms, all from a single fingerprick blood sample. Current projects using this electrode array are focusing on identifying 14 high-risk HPV genotypes from a vaginal swab as a prescreening measure for women in underdeveloped countries. The platform is also being studied for its capability to quickly triage patients showing signs of bacterial infections. In such cases, the device could identify both the disease, such as malaria or HIV, and any antibiotic resistance to guide medication choices. The device is highly versatile and can be adapted for various health conditions. Additionally, new research has begun to use both SNPs and proteins in a single blood sample to gauge the risk of developing cardiovascular diseases.

“There is a whole range of diseases that can be detected at an early... enough [stage] to intervene and treat them correctly,” said Ciara K. O’Sullivan, Ph.D., research professor at the University of Rovira i Virgili.

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University of Rovira i Virgili