Genzyme’s Approach to Personalized Testing

Driven by “science” and technology, Genzyme Genetics provides testing services in oncology and reproductive medicine using cytogenetics, flow cytometry, fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), molecular genetics, morphology, PCR and gene sequencing. A dedicated team of clinical and R&D resources designs, develops and validates innovative assays. Genzyme’s scientific expertise, coupled with their connection to the academic community and licensing capabilities, enables the company to develop and offer testing technologies and services that make a difference to thousands of physicians and patients.

Enabling the Practice of Personalized Medicine – In the era of personalized medicine, Genzyme Genetics recognizes the need for timely, more specific and more accurate diagnosis, and believes that identifying the right treatment for the right patient at the right time based upon specific test results is a critical component to being a clinically and fiscally responsible health care provider.

The health care system is currently burdened with drugs that are not as effective as they could be, high rates of non-compliance, adverse reactions, and withdrawals from the market. In 2005, U.S. drug spending totaled more than $250 billion, yet 50 percent of drugs were shown to not be efficacious as prescribed. While drug spending is increasing, U.S. diagnostics spending has consistently decreased since 1984. Adverse drug reactions are the 6th leading cause of death in the United States.

Genzyme Genetics’ vision underscores the premise that the combination of diagnostics and therapeutics, strategically linked together, will not only make a positive impact on rising healthcare costs, but most importantly will enable physicians to deliver more appropriate care and improve outcomes for their patients. The company focuses its efforts on developing innovative tests to help physicians personalize care and select the appropriate therapies for their patients.

In the area of oncology Genzyme Genetics offers a specialized menu of tests that help physicians choose therapies, optimize dosage and monitor effectiveness for patients with breast cancer, colorectal cancer, lung cancer, and many forms of leukemia and lymphoma.

As part of their reproductive testing portfolio, Genzyme Genetics offers a broad menu of maternal serum screening options so that pregnant patients can get the right test at the right time. In infertility testing, Genzyme Genetics was the first national laboratory to offer the cutting edge infertility test - preimplantation genetic screening (PGS) – which provides personalized information to physicians and patients and ultimately helps increase the rates of healthy pregnancies.

Genzyme Genetics is also committed to patients with rare and complex lysosomal storage disorders where it is essential to obtain an accurate diagnosis prior to starting therapy. The company currently offers tests to diagnose and monitor treatment for Gaucher, Fabry and Pompe patients.

Oncology Testing – Offering a comprehensive range of testing for the diagnosis, prognosis and therapeutic monitoring of patients with solid tumor and hematologic malignancies, Genzyme has developed extensive technical capabilities to ensure that the most appropriate and clinically relevant technologies are employed to provide physicians and patients with the answers they need.

With a team of 25 pathologists on staff, including the world-renowned surgical pathologist, Juan Rosai, M.D., Genzyme Genetics has extensive experience and specializes in difficult-to-diagnose cases. Genzyme’s robust offering of molecular tests and world-class FISH library containing hundreds of probes, enables Genzyme Genetics to provide accurate, timely and quality diagnoses for patients with cancer

• Solid Tumor Testing - Using integrated and innovative technologies Genzyme Genetics is a leader in solid tumor testing with a focus in lung cancer, breast cancer and colorectal cancer. As a national leader in high quality breast cancer predictive and prognostic analysis, Genzyme Genetics provides critical information on an estimated 20% of all newly diagnosed breast cancer cases in the U.S. each year. In addition Genzyme was the first national reference laboratory to implement the new ASCO/CAP HER2 testing guidelines to improve diagnosis for breast cancer patients. In the area of lung cancer Genzyme Genetics offers one of the most extensive menus. Demonstrating its innovation and leadership in this area, Genzyme Genetics was the first to develop and offer EGFR mutation analysis – a test that helps physicians identify patients who are most likely to respond to targeted lung cancer therapies
• Hematology/Oncology Testing - Hematopoietic malignancies are evaluated by expert hematopathologists employing a variety of advanced technologies. Genzyme Genetics is a leading provider of flow cytometry, cytogenetics and molecular testing to support the diagnosis of these malignancies and to provide additional information related to prognosis and therapeutic targets. Their experts provide consultative support to hundreds of referring pathologists and clinicians, interpreting diverse findings in a comprehensive diagnostic approach to leukemias, lymphomas and other hematologic disorders

Reproductive Testing - Genzyme Genetics offers complex genetic and reproductive testing and genetic counseling services serving OB/GYNs, maternal fetal medicine specialists, reproductive endocrinologists and geneticists. Employing one of the most extensive staffs of board-certified M.D. and Ph.D. geneticists who are available for personal consultations, Genzyme Genetics offers an extensive menu of testing options so that physicians can personalize care for their patients. Genzyme Genetics’ leading reproductive test menu includes

• Prenatal Diagnostics – Amniocentesis & Chorionic Villi Sampling (CVS)
  As one of the largest providers of prenatal cytogenetics in the U.S., Genzyme Genetics performs 20% of prenatal chromosome studies, and therefore has extensive experience with abnormal results. The company attains a greater than 99% culture success rate for amniocentesis, chorionic villi sampling (CVS) and prenatal blood samples. Additionally, Genzyme Genetics set the standard for a 7-day turnaround time for amniocentesis results so that physicians and patients can get the information they need in a timely manner.
• Carrier Screening – DNA Testing
  A market leader in carrier screening for cystic fibrosis, diseases prevalent in the Ashkenazi Jewish population, and in Fragile X testing, Genzyme Genetics’ tests provide physicians and patients with important health information so that they can make informed decisions regarding care.
  • Their innovative CFplus® assay tests for more mutations than any other laboratory in the industry, and their analysis provides increased cystic fibrosis mutation detection among African Americans and Hispanics.
  • Genzyme Genetics’ Ashkenazi Jewish carrier screening consists of an extensive menu of tests, including the ACOG recommended tests for cystic fibrosis, Tay-Sachs disease, familial dysautonomia (FD) and Canavan disease.
    
  • To provide the most accurate results, their novel approach to Fragile X testing includes both Southern blot and PCR analysis.

Maternal Serum Screening

With their broad menu of non-invasive maternal serum screening options, Genzyme Genetics offers six tests that provide early answers and high detection rates to help physicians and their patients understand the risks of having a baby with Down syndrome, trisomy 18 and/or open neural tube defects.

Infertility Testing

Genzyme Genetics’ infertility program has helped thousands of physicians and patients identify the genetic causes of infertility and recurrent pregnancy loss. Their menu includes state-of-the-art preimplantation genetic screening (PGS). PGS screens embryos for the most common chromosomal abnormalities to help physicians identify embryos that will most likely result in healthy pregnancies.

For more information about Genzyme Genetics’ innovative and personalized testing services visit www.genzymegenetics.com

CFplus is a registered service mark of Genzyme Corporation.