The Market for Inherited Disease Molecular Diagnostic Testing
The detection of single nucleotide polymorphisms (SNPs) or gene variants from tissue, blood, urine and saliva samples can be used to diagnose inherited diseases and genetic disorders as well as determine the risk of disease manifestation or progression. Point mutations in genomic DNA occur when a single nucleotide (A,T,C, or G) sequence is altered. Many SNPs have no effect on cell function, but scientists believe others could predispose people to disease or influence their response to a drug. Although more than 99% of human DNA sequences are the same, variations in DNA sequence can have a major impact on how humans respond to disease, environmental factors (e.g. bacteria, viruses, toxins, and chemicals), and drugs or other therapies. Although a relatively stable area of clinical molecular testing, SNP analysis in patient pools and populations is an area of intense engagement in translational research. This report covers markets for testing for inherited diseases using molecular technologies such as NGS or PCR.