Rare Disease Day 2019

Today, February 28, is Rare Disease Day. Rare Disease Day was established in 2008 as a way to raise awareness of rare diseases and bring focus to research and treatments.

Individually, each of the approximately 7,000 rare diseases have an incidence of fewer than 200,000 people in the United States affected at any given time. However, when considered altogether, rare diseases affect as many as 1 in 10 Americans and over 350 million people worldwide.

These rare conditions have a wide variety of symptoms, severity, and treatments. Some are life threatening while others can be managed. What most have in common, however, are a genetic cause. About 80% of rare diseases have a genetic origin.

For 2019, the theme for Rare Disease Day is “Bridging Health and Social Care,” which focuses on bridging the coordination gaps among medical, social, and supportive services for those afflicted with rare diseases.

Knowing if you are a carrier for a rare disease is powerful information to have, especially if you are thinking about having children. To learn more about screening to determine whether or not you could be a carrier, visit our website at https://nxgenmdx.com/genetic-screening.

To learn more about Rare Disease Day, visit www.rarediseaseday.org or follow Rare Disease Day on Facebook or Twitter.

NxGen MDx implements hereditary cancer panel

GRAND RAPIDS, Mich., Oct. 25, 2018 — NxGen MDx announced the creation of the NxGen MDx Hereditary Cancer Panel, which will test for variants in 32 genes known to cause certain forms of hereditary cancer.

Of over 1 million women with a family history of breast/ovarian cancer that meet testing criteria, only 13.8% undergo genetic testing (1). The NxGen MDx Hereditary Cancer Panel was designed to provide an easily available and affordable test to meet patients’ needs. The test includes genes known to impact lifetime risk for breast, ovarian, colon, pancreatic, prostate, uterine, gastric, and melanoma cancers.

In addition to evaluation of the 32 genes for cancer risk variants, patients who order the NxGen MDx Hereditary Cancer Panel will receive a personalized breast cancer risk assessment. This risk assessment is performed even if they are negative for any variants in the 32 genes screened and is based on a combination of their test results, reported family history, and personal health history.

“The addition of an oncology panel is a natural fit for NxGen. We’ve always been best-in-class using whole-gene sequencing, so it just made sense to use our expertise to round out our women’s health focus,” said Alan Mack, CEO of NxGen MDx.

The Hereditary Cancer Panel, like all screening from NxGen MDx, comes combined with genetic counseling to help patients fully understand their results and what they may mean for the future.

1. Childers. C.P., Childers, K.K., Maggard-Gibbons, M., & Macinko, J. (2017, December 1), National estimates of genetic testing in women with a history of breast or ovarian cancer. Journal of Clinical Oncology. 35(34), 3800-3806.

About NxGen MDx
NxGen MDx LLC is a leading women’s health company delivering highly accurate and precise genetic screening that detects genetic diseases or abnormalities and helps families make informed decisions. Unlike other laboratories, NxGen MDx’s technology examines the entire gene rather than parts of the gene, giving families a comprehensive assessment of their true risk. NxGen MDx is based in Grand Rapids, Michigan. To learn more, visit the company’s website at www.nxgenmdx.com.