A setback in the scientific basis for SNP (single nucleotide polymorphisms) analysis may turn out to be a blessing in disguise for makers of genotyping equipment, reagents and software, according to Kalorama Information. The medical market research publisher foresees double-digit growth in equipment sales, chemicals and software as more refined chips enter the market with the ability to measure rarer variants, as noted in "SNP Genotyping and Analysis Markets."
SNP analysis has become an appealing method for identifying variations in DNA sequences for several reasons -- SNPs are numerous, they account for over 80% of genetic variation in terms of quantity, they are stable through the generations, and they are easy to score. Also, the prices and the amount of content provided in SNP products have continued to improve, with the cost per genotype dropping on the order of ten-fold every two years since 2000.
While it was anticipated that the first round of Genome-wide association studies would result in the discovery of many disease associations for common ailments, the results were disappointing. The scientific community had relied on the assumption that common diseases were caused by common variants, which would be elucidated with SNP chips containing variants having 5% frequency. In the end, it appears that such studies need to look at rare variants occurring at around 1% frequency or less.
SNP genotyping can only analyze the variants that have been provided on the chips. So if only 5 to 10 variants were required for a given disease, as initially thought, fewer samples would need to be run per study. But if one hundred rare variants are cumulatively responsible for a given complex disease, as seems to be the case, then it is necessary to study more people to get enough data for statistical significance. This situation is an opportunity for new products that provide new capabilities.
"Despite the recent challenges, there is still money to be made in this market," notes Bruce Carlson, publisher of Kalorama Information. "The need to find rarer variants will require new chips and more samples, which means greater use of the machines and chemicals involved in the analysis process."