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Hereditary Risk Assessment

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

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.

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  • 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.

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  • 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.

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  • 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.

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

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  •  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.

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  • 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 

Targeted Gene Sequencing
Hereditary Risk Assessment
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