Choosing to have a child is one of the most important decisions in a person’s life. All prospective parents want to make certain that the new life they created and plan to nurture and love is welcomed into our world with as much preparation as possible. And more to the point, parents want to make certain that they are informed. For this reason, Pathway now offers Extended Carrier Status Screening.

What is carrier screening?

Pathway’s Extended Carrier Status Screening service examines prospective parents for 76 recessive genetic diseases. This newly extended service is available to physicians and their patients.

It is important for prospective parents to be equipped with critical information regarding their own genetics when considering conception.

Although recessive disorders are rare, they become very real when a family has a child unexpectedly born with two disease-causing recessive mutations. Most of our genes are present in two copies because we inherit one copy from each parent. Recessive inherited diseases are those which show no symptoms unless both copies of a gene, one from the mother and one from the father, are altered or mutated in the child. A carrier is a person who has only one copy of a disease-causing mutation for a recessive inherited disease, is not affected, and does not show symptoms of the condition. This means that both prospective parents could be carriers and not know it. Moreover, if both parents are found to be carriers of mutations that cause the same disease, their child may be at risk of developing that disease.  Some of these diseases are easily treated if diagnosed early. Other conditions, however, are devastating.

Why is carrier screening needed?
Traditionally, pregnancy-related genetic testing has been limited to prospective parents whose family history or ethnicity suggests that they may be at an increased risk for a particular genetic disease. One example of this is genetic screening for Tay-Sachs disease mutations in people of Ashkenazi Jewish origin. The problem with this approach is that it relies on self-reported ethnicity and family history, which can be incomplete or misleading. Additionally, the ethnic distribution and prevalence of many genetic disease-causing mutations is not known.

The Simple Solution
Using only a saliva sample, advancements in science, medicine and laboratory technology now make it possible to detect an exceptional number of these recessive mutations in prospective parents. To provide the most complete report possible, we recommend that both prospective parents are tested at the same time.

Accurate and Safe Analysis
Our on-staff geneticists and physicians crosscheck and validate the information in each report before the genetic results are delivered to the ordering physician. All samples go through rigorous analysis and quality control, and Pathway’s reports reflect the best available genetic evidence. We use custom disease-targeted genotyping technologies that are capable of testing for the presence of thousands of mutations in a person’s DNA. Analysis of genetic testing results is accomplished by our highly trained staff and is relayed back to the physician and patient securely and privately in a comprehensive, self-explanatory report. Our privacy and security program protects an individual’s saliva sample, DNA extract, genetic testing and report results, as well as any other personally identifiable information.

Genetic Counseling
We are devoted to making our testing process and reporting as simple as possible; however, we understand that, for some people, testing one’s genetic makeup can be a daunting experience. It is our goal to make the testing process as worry-free as possible. One of the ways we do this is by offering physicians and their patients a free genetic counseling service, which is fully staffed by qualified counselors who are Board-eligible/certified by the American Board of Genetic Counseling. All our genetic counselors are under the supervision of our on-staff medical doctors.

Summary
Because the reports we provide are meant to be educational and informative, the practical information within the reports provides prospective parents with a foundation to begin, or continue, a conversation with their medical providers. The information in the report is not meant to frighten or intimidate people into making hasty decisions, but rather to strengthen the patient-physician relationship through the availability of genetic information. Moreover, extended genetic carrier status testing practically informs and educates prospective parents about the possibility of passing on a recessive genetic condition to their children. By providing physicians with another tool to help personalize the delivery of care while educating patients about their risks, extended genetic carrier status testing holds the promise of providing better, more comprehensive and personalized healthcare at an affordable price. For more information about Pathway’s Extended Carrier Status Screening service, or our other services, please contact a Pathway representative at (877) 505-7374 or feedback@pathway.com.

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