The Merits and Challenges of Genetic Testing

Genetic Testing and Molecular BiomarkersAhead of Print Free AccessThe Merits and Challenges of Genetic TestingKaley Katz and Sharon F. TerryKaley KatzElon University, Elon, North Carolina, USA.Search for more papers by this author and Sharon F. TerryAddress correspondence to: Sharon F. Terry, MA, Genetic Alliance, 26400 Woodfield Road #189, Damascus, MD 20872-7509, USA E-mail Address: [email protected]Genetic Alliance, Damascus, Maryland, USA.Search for more papers by this authorPublished Online:17 Oct 2023https://doi.org/10.1089/gtmb.2023.29077.perspAboutSectionsPDF/EPUB Permissions & CitationsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail Genetic testing has become a powerful tool for diagnosing medical conditions, with technological advancements leading to early detection of health risks. However, it also presents ethical and emotional challenges.The use of genetic testing has significantly increased in recent years as it helps in identify specific genetic mutations or biomarkers, which are crucial in assessing the risk and prognosis of medical conditions. However, some individuals may feel hesitant to undergo testing due to various reasons. For instance, if a family member has been diagnosed with a hereditary condition such as Alzheimer's or breast cancer, relatives may also be apprehensive about testing positive. Over the last few decades, genetic testing has become more common in the prenatal and newborn periods, making it even more complex. With noninvasive methods and traditional techniques like amniocentesis and chorionic villus sampling, testing has become more accessible and convenient.According to a study conducted by Siranosian and their team, most pregnant women surveyed would rather have a prenatal genetic test than not have one. When deciding whether to undergo prenatal testing, the level of uncertainty in the tests seems to be just as important as the safety of the test. For example, chromosomal microarray and fetal exam sequencing can have an uncertainty of up to 20%. Nonetheless, many mothers believe that the ability to make delivery and postnatal care plans is worth dealing with the uncertainty in test results (Siranosian et al., 2023).Genetic testing presents unique risks compared to other medical evaluations. Results could affect the tested person and family members with similar genetic backgrounds. For instance, parents undergoing prenatal testing may grapple with feelings of guilt or anxiety. Studies have shown that anxiety levels peak before amniocentesis and spike again before receiving results (Lerman et al., 2002). Even those who decide not to get tested may still experience anxiety.Anxiety levels can differ among various groups of individuals. Research indicates that younger, more educated patients tend to place greater importance on patient autonomy and wish to be more involved in medical decision-making. However, as the degree of illness worsens, the inclination to participate in medical decisions decreases significantly (Helmes et al., 2002). Age and ability are not the sole factors that influence this process—ethnicity and cultural background also have a significant impact.According to a study that focused on Latino and African American demographics, 87% of the participants who self-reported being at high or moderate risk for developing cancer have never met with a genetic counselor. The reasons cited for this include a lack of knowledge about the subject, fear of cancer, and the belief that genetic tests are more advantageous to medical professionals than patients (Lumpkins et al., 2023).Making the decision to undergo genetic testing is a personal one and should be done after taking into account multiple factors, such as emotional preparedness and risk tolerance. Genetic counseling can provide valuable assistance in managing inherited conditions and making informed choices. Effective communication between the medical professional and the patient is the most crucial element when deciding to consent to genetic testing, ensuring that the patient is aware of all the potential risks and benefits of receiving their results. When patients are given the chance to be more involved in their health care decisions, it is important to educate and earn their trust in the individual providing guidance.ReferencesHelmes AW, Bowen DJ, Bengel J. Patient preferences of decision-making in the context of genetic testing for breast cancer risk. Genet Med 2002;4(3):150–157; doi: 10.1097/00125817-200205000-00009. PMID: 12180150. Crossref, Medline, Google ScholarLerman C, Croyle RT, Tercyak KP, et al. Genetic testing: Psychological aspects and implications. J Consult Clin Psychol 2002;70(3):784–797; doi: 10.1037//0022-006x.70.3.784. PMID: 12090383. Crossref, Medline, Google ScholarLumpkins CY, Nelson R, Twizele Z, et al. Communicating risk and the landscape of cancer prevention—An exploratory study that examines perceptions of cancer-related genetic counseling and testing among African Americans and Latinos in the Midwest. J Community Genet 2023;14(2):121–133; doi: 10.1007/s12687-022-00629-5. Epub 2023. PMID: 36930422; 14: PMC10021032. Crossref, Medline, Google ScholarSiranosian J, Lewis C, Hill M, et al. Exploring prenatal testing preferences among US pregnant individuals: A discrete choice experiment. J Genet Couns 2023 [Epub ahead of print]; doi: 10.1002/jgc4.1777. PMID: 37646199. Crossref, Medline, Google ScholarFiguresReferencesRelatedDetails Volume 0Issue 0 InformationCopyright 2023, Mary Ann Liebert, Inc., publishersTo cite this article:Kaley Katz and Sharon F. Terry.The Merits and Challenges of Genetic Testing.Genetic Testing and Molecular Biomarkers.ahead of printhttp://doi.org/10.1089/gtmb.2023.29077.perspOnline Ahead of Print:October 17, 2023PDF download