MedGenome Labs, a genomics research and diagnostics company in South Asia, has developed and launched an AI-enabled variant interpretation software suite, VarMiner. According to the company, this software will help clinicians, molecular geneticists, and Genome analysts to interpret and report actionable genetic variants.
The company claims that India has over 95 million people who are suffering from rare diseases. According to the Organization of Rare Diseases in India, at least one in 20 Indians is affected by one of the rare diseases. The diagnostic company announced that the biggest challenge in the process of diagnosis of rare diseases is lack of awareness.
The rare diseases have mostly been proven to be genetic and can be diagnosed via genomic testing. The genomic research company claims that VarMiner is powered by certain tools and databases to provide deeper insights into genetics with extreme accuracy and efficiency.
“Identifying the causal variant(s) in a patient with a rare disorder is like pointing out a needle in a haystack. MedGenome has developed the software to identify the disease-causing variants rapidly and accurately from next-generation sequenced data,” Dr Ravi Gupta, vice president of bioinformatics, MedGenome Labs, said in a press statement.
Gupta also claimed that their validated solution on a large number of clinical samples, will further improve the diagnosis rate of rare Mendelian disorders, which has been a challenge in this field.
According to the company, VarMiner supports three NGS Dx workflows: first is Germline Analysis which covers all rare diseases, inherited cancers, mitochondrial genome analysis, PGx and HLA analysis; second is the Carrier/TRIO Analysis which is a combined analysis of familial samples to detect De-novo and common inherited variants and reporting. While, third is Somatic Analysis covering comprehensive analysis of cancer genomes with support for liquid biopsy, hematology and solid tumour cases.
According to Dr Vedam Ramprasad, CEO, MedGenome Labs also informed that while this is an initial version with high specificity, they are working on the next version of the software that will increase the algorithm’s sensitivity too. The company claims that VarMiner offers clinically validated analysis workflows for germline, somatic and pre-natal NGS tests.