The NIH estimates that 25-30 million Americans, or about 1 in 10, suffer from a rare disease. All told, there are about 7,000 rare diseases. Some 80% of the rare diseases involve a genetic component.

Precision medicine takes into account individual variability in genes, environment, and lifestyle for each person. Using this approach doctors and researchers predict more accurately which treatment and prevention strategies for a particular disease will work for each individual (i.e. the right treatment, for the right patient, at the right time) as opposed to a one-size-fits-all approach. A component of precision medicine is “companion diagnostics”, which is defined by the FDA as an in vitro diagnostic (IVD), which provides information that is essential for the safe and effective use of a corresponding drug or biological product.

Companion diagnostics can: identify patients who are most likely to benefit from a particular therapeutic product; identify patients likely to be at increased risk for serious side effects as a result of treatment with a particular therapeutic product, or; monitor response to treatment with a particular therapeutic product for the purpose of adjusting treatment to achieve improved safety or effectiveness.

For more information on Medosome Biotec’s companion diagnostics and Laboratory Developed Tests (LDTs) please click the button below.

• GSTZ1 haplotyping for the accurate dosing of dichloroacetate (DCA):  DCA is a small molecule that has therapeutic potential in treating a number of rare and common diseases. One limitation of DCA is that the drug is potentially neurotoxic, although the extent of toxicity varies in the patient population. The human glutathione transferase zeta 1 (GSTZ1) gene encodes a protein that dehalogenates DCA to inactive glyoxylate. Members of our research team discovered that haplotype variations in the human glutathione transferase zeta 1 (GSTZ1) gene influence the kinetics of DCA, distinguishing “fast” and “slow” drug metabolizers thus explaining the varied response in the patient population. Using this test, patients are dose stratified to receive “high” or “low” dosage based on the results of their GSTZ1 haplotyping test.
• A genetic test for determining HIV and HCV subpopulations for personalized dosing with antiretroviral drugs. HIV and HCV are serious diseases for pediatric and adult populations particularly in developing countries. Treatment of HIV and HCV has focused on managing the patient’s viral population with antiretroviral drugs. Minor drug resistant variants that are not detectable in standard commercial assays are known to compromise the patient’s response to drug therapy. We developed a highly sensitive assay using NextGen sequencing for detecting subpopulations of HIV and HCV in infected patients upon which a drug and dosage regimen can be prescribed.