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Phosphorus Launches Diagnostic Ophthalmology and Drug Response Genetic Tests
The company's ophthalmologic tests can help affected patients and family members guide disease management to prevent vision loss, blindness, and complications from eye surgery. Its pharmacogenomic... By PR Newswire

NEW YORK, Sept. 13, 2017 /PRNewswire/ -- Phosphorus, a computational genomics company, announced today the addition of two advanced genetic tests to its catalogue: An ophthalmologic test for inherited conditions associated with vision loss and blindness, and a pharmacogenomic test to examine the efficacy of various drugs for specific patients, according to their genetic makeup. The most common retinal disorder on the ophthalmologic test, retinitis pigmentosa, claims an incidence rate of 1 in 3.5 thousand individuals (Haim, 2002)1, with other conditions tested exhibiting high incidence rates as well. Similarly, genetic factors also account for 20-95% of variability in response to individual drugs (Kalow et al, 1998)2, with 10-20% of adverse drug reactions potentially related to genetic factors (Ingelman-Sundberg, 2004)3.

Phosphorus Logo

Phosphorus' new tests include the most comprehensive panels of genes based on the latest advances in research. They will be unveiled at the National Society of Genetic Counselors (NSGC) Annual Conference in Columbus, Ohio this week.


"For inherited retinal disorders, genetic testing can be used to prevent vision loss and blindness," explained Oscar Puig, Chief Scientific Officer at Phosphorus. "Additionally, our new genetic tests for drug response will equip patients with information on how to better optimize their medication."

Phosphorus' expert-curated panels, powerful data analytics, and rigorous variant interpretations have been designed and developed to ensure the most accurate results for patients. The tests are powered by next-generation sequencing technology, including comprehensive detection of copy number variants. The simple testing workflow is designed to ease the process for physicians and provide an affordable option for patients and their family members.

"With the launch of our ophthalmologic and pharmacogenomic tests, we are expanding our portfolio of diagnostic products, which includes comprehensive tests in cardiology, oncology, and reproductive health. By pairing these clinical tests with Phosphorus' Elements software, we offer the first end-to-end solution enabling laboratories and medical centers to build and expand their precision medicine capabilities," said Alexander Bisignano, co-founder and CEO of Phosphorus.

The newly launched ophthalmology genetic test includes the following conditions:

  • Retinal Disorders: 146 genes. Includes genes associated with achromatopsia, Bardet-Biedl syndrome, cone-rod dystrophy, Usher syndrome, congenital stationary night blindness, Leber congenital amaurosis, retinitis pigmentosa, and macular dystrophy.
  • Cataracts: 38 genes. Congenital cataracts are the most common cause of treatable childhood blindness, with 25-33% of cases being hereditary4.
  • Glaucoma: 18 genes. Early-onset glaucoma can be caused by hereditary conditions.
  • Corneal Dystrophy: 8 genes. About 1 in 1,000 people has a corneal dystrophy that can lead to vision loss after laser eye surgery5.

The newly launched drug response genetic test covers the most commonly prescribed drugs across a large cross section of therapeutic areas, including cardiology, psychiatry, oncology, pain management, neurology, immunology, gastroenterology, respiratory, infectious disease, and others.

Learn more about Phosphorus tests at the National Society of Genetic Counselors Annual Conference in Columbus, Ohio at booth #350. View the company's research poster presentation, "Clear Indication for Cardiogenetics Testing; No Good GC Referral Options. How Do Genetic Counselors Think a Cardiologist Should Proceed?," on Wednesday, September 13, 2017 from 5:15 PM to 6:30 PM (poster A-10). View the company's other research poster presentation, "CDC Tier 1 Genomic Applications: Awareness Among GCs and Potential Impact on GC Practices," on Friday, September 15, 2017 from 1:15 to 2:30 PM (poster C-9). Both presentations will be delivered in the exhibit hall.

About Phosphorus

Phosphorus is a computational genomics company with the vision to create a world where every healthcare decision is optimized with genomics. Headquartered in New York City, Phosphorus offers clinical genetic tests in a range of clinical areas from its CLIA-certified laboratory. The company also develops powerful software that enables labs around the world to deliver the most advanced genetic tests. Phosphorus' active research and development program has an initial focus on decoding the genetic causes of infertility and inherited cardiovascular disease. With a team of experts in computational biology and computer science, Phosphorus is building a data network that will help providers, researchers and patients around the world better understand and harness the power of the human genome. For more information visit: www.phosphorus.com and @phosphorus.

1Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;(233):1-34.
2Kalow W, Tang BK, Endrenyi L. Hypothesis: comparisons of inter- and intra-individual variations can substitute for twin studies in drug research. Pharmacogenetics. 1998;8(4):283289.
3Ingelman-Sundberg M. Pharmacogenetics of cytochrome P450 and its applications in drug therapy: the past, present and future. Trends Pharmacol Sci. 2004;25(4):193-200.
4Yi J. et al. (2011). Int J Ophthalmol, 4(4), 422-32.
5Lee J. et al. (2010). Ophthalmic Epidemiology, 17(3), 160-165.

 

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SOURCE Phosphorus

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