REFINING BLOOD TYPES
Current tests define blood type as A/B/O and RH positive or negative, but some racial groups share a variety of more obscure variants, explains Antonio Martinez, CEO of Bilbao-based Progenika. African and Asians, for instance, might be negative for more rare antigens. These do not cause a problem when someone needs a single blood transfusion and receives antigen-mismatched blood; chronic patients, however, will eventually develop antibodies and suffer allergic reactions if the blood donor is not an exact match. Most blood banks currently accept the fact that some patients will live with these antigen-induced complications. Says Martinez, “We want to avoid this problem by supplying patients with the perfectly matched blood from the very beginning.”
So Progenika developed a DNA chip to identify whether a patient or blood donor is positive or negative for these blood types (their names include RHCE, Kell, Kidd, and Duffy). The test identifies 23 single-nucleotide polymorphisms, or SNPs, and labels them with fluorescent molecules. The DNA blood-typing chip, available since 2008, has already been adopted in blood banks across Europe.
For the U.S. market, Progenika identified SNPs related to sickle-cell anaemia. The company has already begun selling in the U.S., and recently signed an agreement with Novartis to sell Progenika products in the U.S. The company is now utilizing the same technology to identify markers for cancers, beginning with prostate cancer.
UNCOVERING TRACES OF DISEASE
Another hope of advanced personalized biotechnology is that new techniques will employ genomic sequencing to detect early markers of a disease, or a patient’s genetic predisposition to a disease.
Madrid-based BlackBio developed a DNA bio sequencing technology that improved the speed and accuracy of sequencing, and then moved into the realm of diagnostics. Instead of focusing on a patient’s entire genome, BlackBio targeted a handful of SNPs that indicate a patient’s likelihood of, for example, developing Type 2 diabetes. Says Gemma García, deputy general manager, “This is quite an important approach for personalized medicine. If you have a high genetic risk of diabetes, you can take preventive steps: change your diet, exercise, try not to gain weight, get your blood pressure under control.” The test is done using a simple oral swab. BlackBio began validating the kit with a hospital in Madrid in September 2011.
In addition, BlackBio is teasing out the identification of a variety of diseases. Sepsis, a whole-body infection, can be both fast acting and deadly. Traditional microbiology to determine the source of an infection can take from 48 hours to a week, but the diagnostic kit developed by BlackBio can identify the bacterial source of an infection in only eight hours.
Two Catalonia-based companies, Oryzon and Reig Jofré Laboratories, the former a specialist in biomarkers and early diagnosis and the latter a larger, more traditional pharmaceutical company, have teamed up to offer a minimally invasive test to predict the occurrence of endometrial cancer. This cancer, after breast cancer the second most common among Spanish women, can appear at the same time as menopause, and a woman’s irregular bleeding could result from either state. “Ninety-five percent of the time, the bleeding is purely natural,” explains Ignasi Biosca, CEO of the Reig Jofré Group. “But in five percent of the cases, the bleeding is related to endometrial cancer. It’s important to catch that five percent.”
Current tests demand a multistep process and are both expensive and invasive, involving sampling the uterine wall. And Carlos Buesa, CEO of Oryzon, says that “clinicians wanted something simple that could be done on the patient’s first visit,” without anaesthesia. In response, the companies developed a test to evaluate genes found in the mucus on the uterine lining. Following a swab test, the technology can pick up the markers of five genes that are over-expressed in the presence of endometrial cancer.
Oryzon and Reig-Jofré have conducted a clinical trial with 16 Spanish hospitals, comparing the swab test to actual results of the current multistep diagnostics for tissue samples from 500 women. The results, presented in September 2011, demonstrate 97% accuracy and compare favourably to current techniques, but these are available in a dramatically shorter time frame and at a significantly reduced cost.
Buesa says that Oryzon’s first product showcases the company’s promise in diagnostic and personalized medicine, as the biomarker discovery platform demonstrates. Buesa continues, “We want to become a leader in molecular diagnostics, with specialization in genomics, proteomics, and bioinformatics.”
Extract from an article published in the magazine Technology Review
Article published in april 2012