What it is-and how the information it contains can empower you.
SAN DIEGO, April 19, 2010 — There are many things to consider when you’re thinking about starting a family. Planning a family is one of the most important decisions a couple will make. Genetic testing has become part of this process and can help parents make informed preconception choices.
Ideally, the process of starting a family begins before conception with serious questions, honest answers, and—for many couples—analysis of their likelihood of passing along specific genetic conditions to their children. In the past few years, the science of DNA testing and analysis has advanced exponentially, both in the amount of information genetic tests can reveal and the precision and reliability of the results. As a result, a carrier status report has become a more common and important tool for family planning.
Carrier status testing is not only becoming more widespread, research shows that it has been very effective. For example, a general downward trend has been seen across the world with respect to the number of babies born with inherited diseases such as cystic fibrosis (CF) after the implementation of carrier screening programs.* In Italy, not only did the number of CF birth rates fall, the number of screened carriers over time was significantly correlated with the decrease of newborns with the disease.** There has been a similar decrease in Ashkenazi Jewish disorders such as Tay-Sachs disease since carrier screening has been implemented.***
It’s important to note that the vast majority of babies born today are perfectly healthy (only about 1 to 2 percent are born with a major or minor birth defect, based on statistics from Oncology Nursing Society (ONS) 2005 and Scottish Programme for Clinical Effectiveness in Reproductive Health (SPCERH) Forum 2006. To exhibit the characteristics of these recessive genetic diseases, a person must inherit a copy of the condition-causing genetic marker from both parents. If you are a carrier, it means your DNA contains only one copy of a condition-causing variant. Carriers do not have the disease themselves, but can pass the variant on to their children. If both parents are carriers, then each child of the couple has a 25% chance of inheriting two copies of the disease-causing variant and developing the disease.
While the genetic culprits for thousands inherited diseases have been identified, screening for them has been limited, largely due to cost and convenience. In the past, it was necessary to provide a blood sample for single-disease genetic tests which can be expensive, particularly if multiple tests are ordered. However, thanks to advanced science from companies like Pathway Genomics, both the convenience and cost have gone down significantly. With Pathway, you only need to provide a 2 ml saliva sample and send it back to the company’s onsite, federally CLIA certified and California State licensed laboratory for analysis in the pre-paid FedEx package provided. Within 4 to 6 weeks, Pathway will provide you with a comprehensive report—privately and securely—that clearly outlines your carrier status information on more than 37 conditions.
The Value of Knowing
New scientific advances are being made every day, but in the meantime, Pathway makes it easy and affordable for couples to gain information that can help them make more informed decisions with regard to family planning. This knowledge can help couples put into action steps that help them mentally prepare for pregnancy, and gives them specific knowledge about what genetic conditions they may carry and pass on to children. If identified as carriers, they can learn about the chances and consequences of passing that mutation to their children, learn about the disorder and what post-birth treatment might be necessary, schedule early any prenatal testing, or even contemplate whether alternatives like adoption or in-vitro fertilization with pre-implantation genetic diagnosis might be a desirable alternative. In addition, any person who takes the Pathway Carrier status test receives the full report without regard to their stated ethnicity. Regardless of how one prepares, being informed about one’s genetic makeup is not only now attainable, but extremely valuable for properly equipping a person with actionable knowledge.
Contact:
Robert Blodgett
Pathway Genonics
Robert.Blodgett@pathway.com
858-997-0826
blog.Pathway.com
www.PATHWAY.com