With availability of better molecular technologies, more and more patients are able to get an appropriate genetic diagnosis. Some have single nucleotide variants and some have copy number variants in certain nuclear genes, or chromosomes. Occasionally mitochondrial mutations are identified. In some cases deciding the type of testing can be difficult. In few other cases, we may not have a underlying genetic diagnosis even after whole exome sequencing (WES) or whole genome sequencing (WGS). In such cases, a good lab or help of a consortium can probably enable getting a desired variant and establishing the genotype. What is your experience, any positive results and any suggestions?
On NGS testing and analysis, many times we get variants of unknown significance (VUS). Sometimes correlation with the phenotype can be difficult. Ex-vivo studies or trio analysis maybe needed but it may not be possible due to financial constraints or lack of certain technologies. Do you agree?
With coming of national rare disease policy in India
https://main.mohfw.gov.in/sites/default/files/Final%20NPRD%2C%202021.pdf
, there are several centres of excellence identified and appropriate networking and involvement of various stakeholders including patient organisations can help in driving need based research for helping Rare disease patients.
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