Over 7,000 gene mutations have been identified that are linked to medical disorders. Many genetic conditions and diseases present a range of symptoms that can often overlap with each other. Genetic testing allows doctors to identify and diagnose a mutation and then improve the treatment plan.
Sometimes parents are wary of passing medical conditions or disorders to their children and seek genetic testing to make reproductive plans or to prepare for raising a child with a positive diagnosis. Whatever the reason for testing, learn about genetic testing 101: what parents need to know.
What Is Genetic Testing?
Genetic testing is an examination of genetic material in fluid or tissue samples. The test looks for gene abnormalities that indicate the existence or potential for certain conditions or diseases. Depending on the reason for genetic testing, doctors can make a diagnosis, evaluate the risk of having a genetic condition, determine the likelihood of passing along a genetic condition, and the likelihood of a genetic disorder resulting in disease.
Genetic conditions are caused by changes in genes which can result in medical conditions or disabilities. In some instances, one or both parents pass abnormal genes to a child. In other cases, changes can occur in a child’s genes at conception. Commonly known genetic conditions include cystic fibrosis, Down syndrome, muscular dystrophy, and Hungtington’s disease. Some forms of epilepsy, intellectual disability, heart disease, vision impairment, and short stature syndrome are genetic conditions.
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When Is Genetic Testing Used?
Genetic mutations can cause a range of health problems in children such as developmental disabilities, defective organs, immune disorders, vision or hearing problems, and chronic behavior or mood problems among others. A doctor may recommend genetic testing for a child showing symptoms of a condition related to a genetic disorder. The test can confirm a diagnosis and allow the doctor to treat accordingly.
Getting peace of mind is a desirable outcome from genetic testing. Beacon Health Sciences provides end-to-end diagnostics and preventative care with the use of next-generation diagnostics, expert medical professionals, and lifestyle and wellness consultants. Patients receive a personalized set of medical services at Beacon Health Sciences that is focused on giving a full view of health.
Women over the age of 34 have a higher chance of carrying a child with a chromosomal problem. Older fathers also risk passing on dominant genetic mutations to a child. Genetic testing would be recommended to women who have experienced two or more miscarriages, or who have delivered a stillborn child showing signs of a genetic illness. If a prenatal screening shows an abnormality a doctor may recommend genetic testing. Parents who already have a child with a birth defect planning to have additional children may consider genetic testing.
Risks And What To Expect
Genetic testing is minimally invasive and has little physical risk. If the testing is done prenatal then there may be a small risk of miscarriage. There can be emotional, social and financial risks though. Genetic testing requires getting a detailed family medical history which could be difficult if family members are not willing to discuss it. Testing could also expose paternity or adoption information. Not all health insurance policies cover genetic testing, which could mean out-of-pocket costs.
Blood, skin, amniotic fluid or other tissue is collected for lab analysis depending on the type of test. Before undergoing testing it is recommended to get genetic counseling. Any test results should be reviewed and discussed with clinical genetics professional.