Genetic testing is the process of analyzing DNA to identify changes or permutations in gene sequence or expression. Genetic testing helps physicians in the process of diagnosis for illnesses such as cancer, chronic illness, or chromosomal disorders such as Autism or Cerebral Palsy.
Genetic testing is performed for countless reasons, including:
Prenatal screening and diagnosis to identify any present defects the unborn child may have
Preimplantation genetic diagnosis examines embryos during in vitro fertilization
Carrier screening to identify if a person has a gene or genetic disorder without showing any symptoms
Forensic testing to identify and analyze criminal evidence
Paternal testing to identify the father of a child
Presymptomatic testing to identify if an asymptomatic person at risk of a condition has developed the disease-causing mutation.
Presymptomatic testing to identify the risk of developing a disease
The process of genetic testing is thorough and often includes a biopsy (the collection of tissue or genetic sample), analysis of the collected tissue sample, and proper storing of the tissue sample. Healthcare professionals are very thorough with this process so they can accurately identify and diagnose a condition.
However, genetic testing can serve many more purposes outside of physician diagnosis, such as Direct-to-Consumer (DTC) genetic testing. Direct-to-Consumer (DTC) genetic testing is sold directly to consumers without requiring the assistance of physicians or other healthcare professionals. Many people are interested in DTC genetic tests to obtain and analyze information on their ancestral background, medical history, and much more.
Risks and Benefits of Direct-to-Consumer Genetic Testing
DTC testing is marketed to individuals through television, advertisements, the Internet, radio, and more. Individuals will send a sample of their DNA to obtain results through an online or written report. These tests are popularly used for ancestral information, common traits in their genetic lineage, predictions about health, and more. All of this can be done without the assistance of a healthcare provider, which is what attracts so many customers. Just like all healthcare testing, there are benefits and risks to DTC as well.
Benefits
The primary benefit of DTC testing is that it brings awareness to genetic and health conditions and helps customers understand the importance of this awareness. These tests are easily accessible to people who may not have access to a clinician for contemporary genetic testing. These samples are often obtained through non-invasive means, such as providing a swab of saliva, rather than through a biopsy that can be intrusive and complicated. Additionally, these tests are often less expensive than traditional genetic testing.
Risks
There are currently no regulations on DTC genetic testing, so it is important to do thorough research before ordering a test. While these tests provide generic information on health conditions, it does not provide conclusive results. If you believe you have a serious condition, such as cancer, it is important to seek professional medical assistance. Engage in DTC genetic testing with caution.
In conclusion, DTC genetic testing can be beneficial in providing information on genetic profiles for a low cost in a more convenient way than traditional testing. However, it is important to be aware of their shortcomings. Discuss any concerns you may have with your medical professional.
Resources:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6808639/
https://medlineplus.gov/genetics/understanding/dtcgenetictesting/directtoconsumer/
https://medlineplus.gov/genetics/understanding/dtcgenetictesting/dtcrisksbenefits/
https://medlineplus.gov/genetics/understanding/dtcgenetictesting/dtcrisksbenefits/
