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7 Diseases You Can Learn About From A Genetic Test (1)

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  • What is the age limit for DNA tests?

    There is no age limit on DNA tests. A DNA test can be performed on an individual at any age.
  • What is a buccal swab?

    Buccal swabbing is a non-invasive way to collect DNA samples from the cells of a person's inner cheek. Buccal means cheek or mouth. A buccal swab resembles a large cotton tip. It is used to collect cheek cells by rubbing the inside of the cheeks. A buccal sample is as accurate as a blood sample. Check Sample Accuracy page to learn more.
  • What if the father is not available?

    It is possible to establish paternity even without doing an paternity test. Paternity can in fact be established by testing relative of the alleged father or your sibling. If only the child and relative of alleged father are tested, the results may not be completely conclusive. If the mother's DNA sample is available for the testing, the results will be more conclusive.
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7 Diseases You Can Learn About From A Genetic Test (1)
Issue Time:2017-12-14

In an age of instant information, it's not surprising people want to know as much as possible about their risk of developing certain diseases.

Now, mail-order kits allow us a peek at our genetic destinies, though some have questioned the accuracy of such information. A handful of companies have cropped up that both sell the kits and offer genetic counseling based on the results.

Tests using blood samples usually require a prescription, but others ask consumers to simply spit in a tube or swab the inside of their cheek. Prices range from several hundred dollars on up.

The results tell of genetic markers that, if present, may signal susceptibilities to certain health conditions. These markers, called SNPs (or single nucleotide polymorphisms), are variations in gene sequences. SNPs don't cause disease, but can help determine the chances of developing a certain illness, according to the U.S. Department of Energy's Genome Program.

Results indicating you're at above-average risk for contracting a disease don't guarantee you'll get it, just as results showing no risk markers don't mean you won't. But for some, acting on the information like deciding to quit smoking or make diet changes may help prevent the disease's development or lessen its effects, according to Navigenics, a genetics testing company.

But test results may not be completely trustworthy. According to a July report by the Government Accountability Office (GAO), the mail-order spit tests are often inaccurate or misleading. Some results directly contradicted others, the GAO told members of a House of Representatives subcommittee.

And even when mutations are found, scientists are not always able to translate these to say exactly how much the odds are of developing a disease are raised.

MyHealthNewsDaily has rounded up some of the genes that genetic tests look for, and exactly what's known about these genes.

Breast and ovarian cancer

The vast majority of the more than 200,000 breast cancer diagnoses given to American women each year occur in those with no known family history of the disease, but 5 to 10 percent are due to up to three genetic mutations in the BRCA1 or BRCA2 genes.

BRCA genes belong to a class known as tumor suppressors, according to the National Cancer Institute (NCI). When mutated, they can allow uncontrolled cell growth. Women with mutations in these genes are about five times more likely to develop breast cancer than those without them, and are between 15 and 40 times more likely to develop ovarian cancer, according to the NCI.

These mutations are more prevalent among women of Ashkenazi Jewish heritage, according to genetic testing company 23andMe.

Celiac disease

An autoimmune condition triggered by proteins called gluten that are found in wheat, barley and rye, celiac disease attacks the tissues of the small intestine, causing diarrhea and abdominal pain. About 2 million Americans are affected.

Many people with celiac disease have no symptoms, however, and the condition can mimic others such as irritable bowel syndrome. The only treatment is to stick to a gluten-free diet, which prevents intestinal damage.

According to 23andMe, celiac disease is up to 87 percent attributable to genetics. Tests look for specific versions of genes for an immune system protein called HLA-DQ. The protein is encoded by a set of genes on chromosome 6.

According to Navigenics, about 1 in 22 people with a sibling, parent or child with celiac disease will develop it themselves. Those with a second-degree relative (an aunt, uncle, niece, nephew, grandparent, grandchild or half-sibling) have a 1 in 39 risk.

Age-related macular degeneration (AMD)

AMD is the most common cause of irreversible vision loss in Americans over age 60. The disease causes the retina, the tissue at the back of the eye responsible for transmitting images to the brain, to deteriorate, resulting in central vision loss crucial for reading, driving or recognizing faces.

According to the NIH, about 1.75 million Americans suffer from AMD. About 200,000 people lose central vision in one or both eyes each year, according to the Macular Degeneration Foundation (MDF).

Genetics and environmental factors account for the development of AMD, according to 23andMe, with up to 71 percent of cases attributable to heredity. Tests focus on a group of genes called ABCR genes, and those with these certain variations in these genes have a 30 percent greater chance of developing AMD, according to the MDF.

According to a study in the journal Nature Genetics, those whose siblings have AMD are between three and six times more likely to develop it than the general population.

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