The Skinny On Genes: 3 Diseases You'll Know More About Because Of Genetic Testing

16 September 2015
 Categories: Health & Medical , Blog

Amazing developments in genetic testing are revealed every day in the news. Each time a disorder is found via genetic testing, more patients are able to finally have a diagnosis for their symptoms and get effective treatment. People without any current medical problems can learn about their own genes so they may take steps to prevent a future disease for which they have a genetic predisposition.

These 3 persistent human problems are getting help from genetic testing companies and gene research:


This disorder affects one in every 68 children in the U.S., yet previous tests relied solely on measuring social interaction to diagnose the condition. Researchers at a university in Toronto have found that two specific genetic tests may reveal this disease through the child's DNA.

Chromosomal microarray analysis (CMA)  maps out the DNA and then checks for any genes that may be related to autism. Whole-exome sequencing (WES) sorts through the genetic material to find tiny alterations in genes.

These tests can be life changing for kids with autism, since many are not diagnosed until years into their childhoods. When parents are alerted to the presence of genes that are markers for autism, they can begin early treatment.


Researchers in the U.K. and U.S. have discovered a unique gene signature that will help physicians diagnose Alzheimer's disease through genetic testing. Using a novel form of test that examines RNA from 150 genes, the team has found a way to predict how fast the body is aging as well as the propensity to develop dementia and other problems of growing old.

The RNA changes as you age, unlike DNA, so it's a goldmine of information about molecular alterations over time. The team developed an age score based on the changes, and noticed that patients with slight cognitive impairment were showing far more aging of their genetic material overall.

Having this aging test done early will alert doctors and their patients to be on the lookout for dementia and Alzheimer's symptoms when the test reveals early aging taking place. It's possible that this new RNA research may some day lead to treatment for this debilitating and heartbreaking disease.


While depression has many causes and can't be confirmed via genetic testing, drug-gene therapy helps patients by using genetic tests to reveal which drugs will work best for them. Called pharmacogenics, this process is recognized by the FDA as valid.

Because people with certain biomarkers may respond differently to various drugs, the FDA has protocol for over 100 medicines, advising of the actions that should be taken when prescribing them to anyone with specific genes or gene sequences.

The genetic tests for this process can cost over $3,000, but studies have shown the tests may save patients thousands of dollars in medication, doctor's visits, and emergency treatment. Knowing which drugs will work best to treat a patient's depression cuts down the months of trial and error while waiting to see if a medication is effective.

It's a great time to have genetic testing done because you can find out so much useful information about yours and your children's overall health. It's good to know that researchers continue to develop ways to get early warnings and information about common medical problems.