Pathway Genomics Features Pre-pregnancy Screening with Personalized Genetic Health Reports

San Diego, Calif. (PRWEB) April 14, 2010

This week Pathway Genomics (, a U.S. based genetic testing company is attending the Pacific Coast Reproductive Society conference in Palm Springs, CA to inform human reproduction experts about the benefits of genetic testing. Single-gene disorders, or recessive genetic disorders such as cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anemia are uncommon, but in total, affect millions of people. Genetic mutations that cause recessive conditions may be detected through “carrier” screening or pre-pregnancy genetic testing. Pathway Genomics offers pre-pregnancy genetic testing which is included information in its comprehensive Genetic Health Report. This report can be ordered online at

“There are many things to consider when starting a family,” said Linda Wasserman, Ph.D., Director of Clinical Genetics at Pathway Genomics. “Single-gene diseases develop because each parent contributes a single-mutated gene, that while recessive or dormant in their own bodies, puts a child at risk for a life-threatening disease when partnered with another mutated gene for that same health condition. The benefit of pre-pregnancy genetic testing for couples planning a family is found in the value of knowing what genetic markers each partner is a carrier for, and with that information, feeling empowered to make more informed decisions. These decisions may include doctor identification, car or home purchases, or any other decision relevant to family planning when there is the chance a genetic marker could cause a disease.”

Pre-pregnancy genetic testing can be especially helpful for individuals who have a family history of a genetic disorder or for people who belong to ethnic groups who have an increased risk of specific genetic conditions. Having both parents tested can provide information about a couple’s risk of having a child with a genetic condition. If both parents are carriers of genetic markers for a particular condition, each child of the couple has a 25 percent chance of inheriting two disease-causing variants and developing the disease. By understanding this information, couples can make more informed family-planning decisions.

While the genetic cause of many inherited diseases has been identified, screening for them has been limited, largely due to cost. However, today, companies like Pathway Genomics are making it easy and affordable for couples to obtain a genetic health report that features information about their carrier status. The Pathway Genomics Genetic Health Report covers 37 of the most-common conditions that can be passed from parent to child. Examples of what Pathway reports on are:

    Bloom syndrome
    Cystic fibrosis
    Gaucher disease
    Nonsyndromic hereditary hearing loss
    Polycystic kidney disease
    Pompe disease
    Tay-Sachs disease

The Pathway Genomics Genetic Health Report is a customized and innovative personal genetic health report containing information on more than 70 total health conditions, including carrier status (pre-pregnancy health), pharmacogenetics (prescription medication response), and propensity for development of a complex disease, such as cancer. The Genetic Health Report involves testing of an individual’s saliva sample that is obtained by a quick, simple, and convenient collection process. Tyipcally within a month, individuals receive a link to a secure member account for access to their comprehensive, easy-to-read, action-oriented report, that is available in PDF format. Genetic counselors are also available for anyone with questions or for individual report interpretation and counseling.

About Pathway Genomics

Located in San Diego, California, Pathway Genomics is a privately held, venture-backed company that offers both genetic health and ancestry reports. Using customized and innovative DNA genetic testing technologies, Pathway Genomics conducts Comprehensive Genotyping services to generate personalized reports about an individual’s carrier status, pharmacogenetics (drug response), propensity for complex disease, and ancestral history. Pathway Genomics has both its federal CLIA Certification and California state laboratory license for its wholly owned and operated onsite laboratory. In this laboratory, Pathway Genomics performs all genetic testing in a controlled and secure environment. The Company offers personal genetic reports directly to the consumer as well as through partnerships with select health management organizations. More information about Pathway Genomics can be found at

Media Contact:             

Robert Blodgett            



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