Genetic Testing: How Important Is It For You To Get Your Genome Tested For Hereditary Diseases?

DNA sequencing
Genetic tests look at single genes and are used to diagnose rare genetic disorders. Photo courtesy of Shutterstock

Innovations in genetics are helping scientists learn more about disease than ever thought possible. Many believe the key to treating and even curing many conditions is hiding somewhere within the human genome. The only problem is in order to study the genes associated with a specific disease, you must find a large number of carriers. This is where genetic testing programs come in.

She Has Her Mother’s Eyes And Her Father’s Parkinson's

Genetic tests look at single genes and are used to diagnose rare genetic disorders. According to the Centers for Disease Control and Prevention, the tests are used to diagnose diseases such as Duchenne muscular dystrophy and Fragile X syndrome. Another well-known genetic test is for BRCA1 and BRCA2, two genes responsible for hereditary breast and ovarian cancers. Made popular by Angelina Jolie, women found to carry these two genetic mutations are at significantly increased risk for developing these diseases. Following the identification of the genetic mutations, Jolie, like many other women, decided to remove both her breasts, her ovaries, and fallopian tubes — a move which arguably could have saved her from a premature death.

Cancer is just one of many diseases believed to be somewhat influenced by an individual’s genetic makeup. Genetic tests look for mutations in an individual’s genome, some of which can cause serious diseases and even predict how one will react to certain drugs. The problem is that genetic testing is not infallible and simply carrying a gene does not automatically guarnantee that you will develop the illness. According to Dr. Tatiana Foroud, director of hereditary diseases and family studies in the Department of Medical and Molecular Genetics at Indiana University, in the case of Parkinson’s disease, a disorder of the central nervous system, it’s the carriers who fail to develop the illness that may hold the key to an eventual cure.

"One of the things you could ask is, 'Why do some people develop the disease and some people don't?' What changes as someone begins to develop symptoms of the disease?” Foroud told Medical Daily.

A database of the genetic makeup of those with a specific disorder is critical in research advancements, but building this database is a difficult process. Public genetic biomarker studies hope to make building these databases a bit easier by encouraging the collection of DNA from those at elevated risk for specific diseases. One such program is the Michael J. Fox Foundation’s Parkinson’s Progression Markers Initiative (PPMI). While the general population has a relatively low chance of developing Parkinson’s disease, recent research has shown that two specific genes, LRRK2 and GBA, play a large role in the likelihood of an individual developing the disease.

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The LRRK2 and GBA genetic mutations are most commonly found in individuals of Ashkenazi Jewish and Eastern European heritage. The PPMI study hopes to discover other genetic and molecular underpinnings of Parkinson’s disease, and most importantly why some individuals with certain genetic mutations develop Parkinson’s while others do not, by encouraging those of Ashkenazi Jewish and Eastern European heritage to undergo genetic testing.

“What we want to do is use that information to develop new ways to treat the disease or again prevent the disease because if we know what changes before someone develops the disease that gives us a great thing that we can try to target new therapies and drugs for,” Foroud said.

Right now it’s critically important for the PPMI to find adults with the genetic risk factor, and the only way to do this is to get members of the public genetically tested. Individuals who meet the criteria are encouraged to get involved with the PPMI program by simply sending in a saliva sample by mail.

Your saliva donation would contribute to Parkinson’s disease research and also would inform you of your own individual risk.

Interested in getting involved with the Parkinson’s Progression Markers Initiative? Click here to learn more. 

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