What is Genetic Testing?

Dennis Haggerty

July 18, 2022

So, what exactly is genetic testing? In this article, we will go over the types of genetic tests available, including Newborn, Presymptomatic, Forensic, and predictive. We will also discuss the implications of gene testing. Listed below are some of the benefits and risks of genetic testing. Before you have your DNA tested, talk to your doctor about the test options. In addition, you should know that some tests may not be accurate.

Predictive genetic testing

One question to ask yourself is: is it necessary? The study sought to understand families’ views on predictive testing and factors influencing their views. We sent out an invitation to an online survey to the Sudden Arrhythmia Death Syndrome Foundation, the Hypertrophic Cardiomyopathy Association in the United States, and the ARVDHeart for Hope Facebook group. In total, 231 individuals responded. Here’s what we learned.

Many people who get predictive genetic tests report a desire to change their lifestyle. But there’s conflicting evidence about whether or not such tests actually lead to change in behavior. There’s no uniform evidence on whether or not genetic tests change people’s behavior or prevent disease. Even if the results of predictive genetic tests are positive, a majority of individuals report that they would share their results with healthcare providers. The Association of British Insurers has made a commitment not to release results of predictive genetic tests unless patients or their relatives consent.

Presymptomatic genetic testing

Presymptomatic gene testing (PST) is a genetic test which we perform on an asymptomatic individual to determine if a person has an parental disease-causing mutation. Genetic testing is sometimes refer to as susceptibility testing or predictive testing, although for the purposes of this paper we will use the term presymptomatic. The aims of PST are to determine whether the patient is at risk for an inherited disease or a specific monogenic disorder.

The discovery of mendelian genes increased the number of genetic diagnoses for disorders such as ALS and FTD. However, only a small proportion of individuals at risk request presymptomatic genetic testing. The new genetic diagnosis has increased access to this type of testing for all adult relatives.

Forensic genetic testing

Public attitudes towards forensic genetic testing are often influenced by the media, which emphasises the ‘infallible’ power of DNA testing to catch criminals. In addition, socioeconomic status is a significant factor in shaping public views of it. Despite limited quantitative evidence, several studies have shown that public attitudes toward forensic gene testing are a mix of positive and negative. Here, we discuss some of these opinions.

Proponents of forensic genetic testing argue that it is a valuable tool for law enforcement and public safety. They believe that it prevents miscarriages of justice and deters criminal activity, and want to reduce crime and increase public safety. However, many are concerned that forensic DNA testing is being misused in an unintended way. Whether or not it has a positive impact on crime is an open question.

Newborn testing

If you are considering genetic testing for your newborn, you should know what you can expect. Almost all newborns will have a blood test to detect disorders that are not visible immediately after birth. These disorders can range from genetic to metabolic and blood and hormone related. Blood samples are collected by heel-prick. They are collected in small vials and sent for testing. The process may cause redness and bruising in your baby, but this should fade within a few days.

Some scientists argue that newborn genetic testing could cause confusion for parents and increase costs. Despite the risks, newborn DNA testing has become standard in the United States. For example, most states require newborns to have 32 genetic tests before they leave the hospital. However, some parents may want more information. The Sema4 company offers a newborn genetic testing package that screens for 193 diseases. Parents of affected babies were not aware that their newborns had cancer-risk genes. After the testing process, these parents goes to a specialized physician for further evaluation.

Cost of genetic testing

Depending on your circumstances, genetic tests can cost anywhere from $300 to $1,500. Pretest probabilities of LQTS and other clinical and demographic criteria determine the cost-effectiveness of genetic testing. While the accuracy of these scores is not well, they provide a basis for selective genetic testing. If you suspect that your family members or other relatives are at high risk for certain diseases, you should consider it to help them make informed decisions.

Usually, genetic testing is covered by health insurance when it is recommended by a physician. Medicare, Medicaid, and third-party payers typically cover gene testing when ordered by a physician. CPT* codes, used to bill insurance companies for diagnostic tests, may change annually. To get the latest codes, purchase the CPT Professional Edition. Your health care provider will be able to provide you with an estimated cost of it. After receiving your results, you may want to consult a genetic counselor for help.