Hereditary Risk Assessment

Early detection of hereditary disorder, along with proactive medical care, has been proven to help reduce risk and save lives.

Hereditary Risk Assessment

India Affected With Hereditary Disorders

  • Due to the high birth rate in India a very large number of infants with genetic disorders are born every year almost half a million with malformations.

  • Hereditary cancers are thought to account for around 5% of cancers, particularly breast/ovarian and colorectal cancers.

Germline Mutations Leading To Cancer

  • Estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer, based on personal and family history.

  • More than fifty rare Mendelian cancer syndromes are caused by highly penetrant germline mutations affecting either tumour suppressor genes, DNA repair genes or proto-oncogenes, mostly with autosomal dominant inheritance.

  • Germline variants with low penetrance are relatively common in most populations, and have been identified through genome-wide association studies (GWAS).

Variants Responsible For Hereditary Diseases

  • Control and management of the genetic disorders depend on identification of the variants in the genome that are causally linked with the disease.

  • The spectrum of such variants, i.e. mutations, is different in different population groups.

  •  Remarkable progress has been made towards capturing the genomic variation in the context of genetic diseases with the advancement of DNA sequencing technologies.

The CleanPlex Hereditary Cancer Panel v2 offers a simple and streamlined workflow

Starting from purified and quantitated DNA, the multiplex PCR-based protocol can be completed in just 3 hours, with 75 minutes of hands-on time, using a three-step workflow with minimal tube-to-tube transfers. Each step consists of a thermal cycling or incubation condition, followed by “with bead” purification using magnetic beads.

A high-quality approach of delivering hereditary cancer risk assessment (HCRA) within a multidisciplinary context

  • Genetic testing may be performed using a panel of multiple genes through next-generation sequencing technology.

  • The CleanPlex Hereditary Cancer Panel v2 is a targeted resequencing assay designed for analyzing genes associated with an increased risk of developing hereditary cancers.

References:

  • Gomy, I., & Estevez Diz, M. D. P. (2013). Hereditary cancer risk assessment: essential tools for a better approach. Hereditary Cancer in Clinical Practice, 11(1). doi:10.1186/1897-4287-11-16 

  • Verma, I. C. (2000). Burden of genetic disorders in india. The Indian Journal of Pediatrics, 67(12), 893–898. doi:10.1007/bf02723953

  • Pradhan, S., Sengupta, M., Dutta, A., Bhattacharyya, K., Bag, S. K., Dutta, C., & Ray, K. (2010). Indian genetic disease database. Nucleic Acids Research, 39(Database), D933–D938. doi:10.1093/nar/gkq1025

  • ajkumar, T., Soumittra, N., Vidubala, E., Sridevi, V., Mahajan, V., Ramanan, S., & Vijaya, S. (2005). Organization and Running of the First Comprehensive Hereditary Cancer Clinic in India. Hereditary Cancer in Clinical Practice, 3(4), 165. doi:10.1186/1897-4287-3-4-165 

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