Hereditary Disease and Testing

Hereditary Disease and Testing: Part II

Written by: LeeSzkotnicki
Senior Scientist

Published on:
December 14th, 2015

Lee Szkotnicki
Lee Szkotnicki, Senior Scientist I, received his Ph.D., Genetics from Duke University and has a B.S. in Biology from The Pennsylvania State University. Lee develops, optimizes and validates new or existing Next Generation sequencing, Sanger sequencing, gene expression assays, SNP genotyping assays, and nucleic acid extraction methods to provide sound scientific data as well as efficient production.

As mentioned in the previous blog, being tested for hereditary disease can be an overwhelmingly stressful experience for an individual. A positive test not only provides information about the patient but can yield information that can affect parents, siblings and children. For those individuals (in consultation with their physician and genetic counselor) who decide that knowing the risk of disease is important, a variety of tests are available. The purpose of these tests is to provide the patient with information regarding potential risk and how they can ameliorate that risk. Options can include prophylactic surgery, increased monitoring and other lifestyle changes aimed at reducing risk factors.

A recent and highly publicized case of genetic testing involved the actress Angelina Jolie-Pitt. Mrs. Jolie-Pitt had a family history common in individuals with hereditary breast cancer and ovarian cancer syndrome. The syndrome, which has been intensively studied, is characterized by mutations in the BRCA1 or BRCA2 genes. Mrs. Jolie-Pitt tested positive for a BRCA1 mutation. She then elected to have both a double mastectomy and a salpingo-oophorectomy. These procedures have the potential to reduce her risk of both breast and ovarian cancer by upwards of 90%. While this case is an extreme example, it shows how the combination of genetic testing and physician/genetic counselor consultation is leading to a revolution in precision preventative medicine. As with any revolution there is a need for testing providers willing to work with the clinicians to offer the most up to date relevant testing.

To further bolster its role as an emerging leader in precision medicine CGI is excited to announce the development of its next-generation sequencing based Hereditary Cancer Panel. The goal of the panel will be to highlight genes involved in women’s health with a focus on variants that are clinically significant in hereditary breast and gynecological cancers.

While CGI has many offerings focusing on pharmacogenomics testing and somatic cancer diagnostics this panel will mark the company’s entry into the field of heritable cancer risk assessment. The addition of this test will deliver physicians an important tool to assist in the diagnosis and treatment of their patients with the ever-present goal of both improving patient care and clinical outcomes.

The panel focuses on genes with clinically predictive variants and well-characterized hereditary cancer syndromes, including, but not limited to hereditary breast cancer and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome and Cowden syndrome. The Hereditary Cancer Panel also includes genes and single nucleotide polymorphisms with recently identified clinical predictive value. Unlike many other Hereditary Cancer Panels, the CGI panel maintains its small panel appeal with only 48 genes/SNPs of interest. A smaller more focused panel provides reduced sequencing costs and permits the potential for customization in the future without becoming unwieldy. At the same time the Hereditary Cancer Panel retains its ability to be used as a discovery tool by sequencing all exons of the associated genes.

The addition of the Hereditary Cancer Panel will bring CGI one step closer to providing physicians with a single shop for their all of their clinical testing needs.

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