Saliva Test IDs Baby's Risk for 100 Genetic Diseases

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Prospective parents can take a simple saliva test before pregnancy to learn if they are carriers of more than 100 different genetic diseases. This saliva test is free with insurance for more than 100 million Americans, is recommended before pregnancy, and can help avoid the deaths of countless numbers of children each year from preventable genetic diseases.

The Universal Genetic Test was developed by scientists and entrepreneurs from Stanford and Harvard and is available to the public through a startup company in Stanford called Counsyl and offered by doctors at more than 100 medical facilities across the United States. According to the Counsyl website, “millions of unsuspecting couples are at risk for conceiving a child with a serious genetic disease, such as cystic fibrosis, spinal muscular atrophy, or Tay-Sachs disease.”

Although these diseases cannot be cured, they can be prevented if couples—both men and women—take the simple saliva test. The results will tell couples before pregnancy occurs which, if any, of the more than 100 rare recessive genes they are carrying for genetic diseases. This knowledge can help individuals avoid any dilemma they might have about terminating a pregnancy and help them with family planning. Couples who discover they are at risk may then, if they wish, turn to in vitro fertilization and preimplantation genetic diagnosis (IVF/PGD), which can allow clinicians to select genetically “normal” embryos and significantly increase the chance of a healthy pregnancy.

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The saliva test is universal because it can test for diseases in all ethnic groups. For example, it can detect sickle-cell disease, which affects more than 1,000 African American children each year; it identifies thalassemia, which significantly impacts Asian Americans; and it detects a number of genetic diseases that are seen among the Jewish population, including Tay-Sachs, Gaucher disease, and familial dysautonomia.

The Universal Genetic Test can be done in the privacy of one’s home; consumers can purchase the test kit directly from the company, or they can request it through their physician. Many insurance companies cover genetic testing, and interested couples need to consult their insurance carrier. Counsyl is also working with several nonprofits to provide free tests to people in need, and especially those who have a history of genetic disorders.

According to the Human Genome Project, a genetic disorder is a disease that is caused by abnormalities in an individual’s genetic material, or genome. There are four different types of genetic disorders: single-gene, multifactorial, chromosomal, and mitochondrial. The saliva test described here is capable of detecting more than 100 of the more than 6,000 known single-gene disorders, which occur in 1 in about every 200 births.

The availability of this simple saliva test can not only help prevent unnecessary suffering and deaths, it can also significantly cut health care costs associated with the care of chronically ill children. Because the majority of babies born with genetic diseases have no family history of the disorder, it is important for all couples to get the saliva test before pregnancy.

SOURCES:
Counsyl
Human Genome Project

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