GENETIC TESTING AND ANALYSIS
Large Market
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Anyone can take a genetic test. Out of curiosity, many consumers of genetic testing services are interested in discovering their ancestry. However there are other types of genetic testing for those who may want to know if they have inherited a genetic disease that runs in their family. Many individuals check for their risk of developing breast and ovarian cancer. This genetic test tests for the genes BRCA1 and BRCA2 which code for tumor suppressor genes. Mutations in these two genes “account for 20 to 25 percent of hereditary breast cancers”- Cancer.gov “Each child of a parent who carries a mutation in one of these genes has a 50 percent chance (or 1 chance in 2) of inheriting the mutation.”-Cancer.gov. Another common incentive for genetic testing is for forensic use. There are 6 types of genetic tests are newborn, prenatal, carrier, diagnostic, preimplantation, predictive, forensics.
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Predictive Testing
Predictive testing also known as presymptomatic testing calculates the chances of a patient developing a genetic disorder. Often patients who have a family history of developing a specific genetic disorder test in order to ameliorate the fear or confirm their suspicions and then try to prevent it through lifestyle changes.
Newborn Screening
All states require newborns to undergo screening for around 30 genetic disorders, however, the number and type of screenings vary from state to state. Some genetic tests including phenylketonuria (PKU) are mandatory in all states. PKU is an excess of phenylalanine which can lead to brain damage, inhibited growth, and seizures. The purpose of the mandatory screenings is prevent or treat the disease if possible. Genetic disorders like PKU and congenital hypothyroidism are treatable if caught early on. For the case of infants who test positive for phenylketonuria(PKU), they are set on a particular diet in order to prevent symptoms such as brain damage from occurring.
Diagnostic Testing
Diagnostic testing are for those with suspected genetic disorders either shown through family medical history or arising symptoms. This test may be taken at any age, however, not all genetic diseases have available diagnostic tests.
Carrier Testing
Humans inherit one copy of their genes from the mother and the other from the father. If both parents pass on a mutation to their child, the child will develop a genetic disorder. Carrier testing can determine the possibility of the parents passing on the mutations to their children. This test helps prospective parents accommodate the child should they inherit a genetic condition. If the risk is too high, some couples choose to not have children.
Prenatal Testing
Prenatal testing is taken during pregnancy in order to determine the risk of the child developing a genetic condition. Prenatal testing includes amniocentesis and chorionic villus sampling. This test helps couples decide whether or not to proceed with the pregnancy.
Forensic Testing
Forensic Testing is used to identify criminals, victims, and suspects. This form of testing is also used in cases to confirm paternity.
Preimplantation Testing
Preimplantation testing is specifically aimed towards in-vitro fertilization. In-vitro fertilization fertilizes an embryo outside the woman's body. Preimplantation testing and takes a few cells after fertilization to test for genetic diseases. The checked embryo will be free of genetic conditions.
Even those who don’t have a visible genetic disorder may take a genetic test to predict the likelihood of developing common illnesses such as diabetes, cardiac problems, cancer.
Because there are many incentives to take a genetic test demand for genetic testing is booming. Direct-to-consumer genetic testing is now available through companies such as 23andMe. These are genetic testing kits that can be performed at home. Usually a cheek swab or a sample of spit is required and then sent to a facility. The consumer usually receive their results over mail, phone, or online. Direct-to-consumer genetic testing is very convenient for those who do not want to physically go to a clinic or deal with insurance hassles. Due to the growing popularity of direct-to-consumer genetic testing, many members of the community are starting to pay attention to the importance of genetic diseases and its relevance to health. Genetic testing allows for the average consumer to take health into their own hands. Genetic testing is a revolutionary technology. Before genetic testing was even an option, diagnosis and health predictions were based on family history which were often vague.
