Before carrier screening can be offered to a high-risk population, the population must be educated about the disorder being screened, the basic tenets of carrier screening, and the potential benefits and risks of carrier screening. Screening for inherited disorders raises many complex issues. For example, screening raises a number of psychosocial issues, such as how an individual's self-esteem might be affected if he or she was found to carry a non-working gene). There are also implications for nonscreened family members if an individual is identified as a carrier. For instance, how will other family members be notified that they are also at risk for being a carrier. In addition, there is the potential for discrimination; other people may inaccurately infer that an individual who is a carrier has the inherited disorder.
Finally, and most importantly, no discussion of any type of genetic testing is complete without raising the topic of eugenics and the atrocities of the past that were associated with the abuse of genetic information. Today, each individual has the right to choose whether or not they want to know if they carry genes that predispose them to an inherited disorder. No one should be forced to learn about their carrier status, even by another family member. Moreover, the goal of any type of an inherited disorders screening program is not to eliminate genes that cause disease. Eliminating disease-causing genes would mean eliminating the human race. It is estimated that every human carries at least three to four genes that are associated with inherited diseases. Furthermore, there is a presumed constant rate of change (mutation) in human genetic material. These changes ensure variation amongst individuals. However, variation in human DNA occurs randomly, with some changes leading to beneficial effects, and some to detrimental effects like an inherited disorder. Therefore, genetic disorders will continue to occur and be a part of human genetic makeup. Although general population screening and population-targeted carrier screening raise many complex issues, they will ultimately allow society to better prepare for working with these disorders.
SEE ALSO CYSTIC FIBROSIS; EUGENICS; GENETIC COUNSELING; GENETIC COUNSELOR; GENETIC DISCRIMINATION; GENETIC TESTING; GENETIC TESTING: ETHICAL ISSUES; HEMOGLOBINOPATHIES; METABOLIC DISEASES; TAY-SACHS DISEASE.
Levy H. L., and S. Alber. "Genetic Screening of Newborns." Annual Review of Genomics and Human Genetics 1 (2000): 139-177.
American College of Medical Genetics. "Principles of Screening: Report of the Subcommittee of the American College of Medical Genetics Clinical Practice Committee." 1997. Policy Statement. <http://www.faseb.org/genetics/acmg/>.
Hall B., and S. Durham. "NIH Consensus Panel Makes Recommendations for Offering Genetic Testing for Cystic Fibrosis." NIH news release: April 16, 1997. <http://odp.od.nih.gov/consensus/cons/106/106_intro.htm>.