Introduction And Background
The inheritance of genetic traits increases the risk for certain disorders and diseases. The use of genetic screening and testing is beneficial in obtaining information pertinent to calculating the risk factor for individuals and their families. This information allows physicians and epidemiologists to make informed decisions regarding surveillance, as well as the prevention or treatment of diseases. On the other hand, utilization of data obtained from genetic screening has given rise to many ethical issues in genetic screening. The use and application of knowledge on the risks of genetic disease, especially in the provision of basic healthcare for women, requires insight regarding the latest genetic discoveries, combined with the capability of participating in the appropriate resolution of ethical issues which arise in the context of genetic screening.These ethical issues have resulted not just from the present status of knowledge regarding genetic risk factors and the usefulness of genetic screening, but also the conflicts of interest which happen if the needs of the client do not coincide with those of other family members or even society. Many ethical theories and frameworks have been designed to resolve ethical issues in maternal screening for genetic problems in pregnancy, carrier testing before or during pregnancy and clinical genetic screening of newborn infants.
What Ethical Issues Arise In Genetic Screening?
Several ethical issues arise specifically in relation to reproductive problems brought to light through genetic screening. Such issues include proper application of the principles of autonomy, use of informed consent, maintenance of strict privacy or confidentiality, beneficence, non-maleficence and the question of justice to all parties involved.
a) Autonomy: The most important duty in any ethical scenario is respect for the autonomy of other people. Informed consent in genetic screening is one application of the principles of autonomy. Informed consent encompasses explanation and discussion of the purpose of the screening tests, potential advantages, the possible risks to health, as well as the limitations of any particular genetic testing procedure. It is important that participation in genetic screening is voluntary and the participants have full understanding of the discussed information. Many clinical situations, like newborn screening, make use of a passive procedure of consent. This means that the parents have the right to refuse, but if they do not, genetic screening of their newborn is carried out. Thus, in genetic screening of newborns, one ethical issue is that parents might not be fully informed of the possible impacts of test results.
b) Privacy and Confidentiality: Another ethical issue in genetic screening is how the maintenance of privacy or confidentiality of obtained genetic information results in complicated issues which have devastating impacts on an individual, family, entire community and even society. The information obtained in genetic screening is mostly of a sensitive nature, and the ethical issue which arises questions how the privacy and confidentiality of the patient in question will be strictly maintained? Other ethical questions which arise are as follows: Is the genetic information being protected? Who owns and controls the release of this information? Who can access this information? What method will be used to interpret and utilize the information? How may individuals be protected from any harm which might be caused by inappropriate disclosure, accidental leakage or misuse of this information?
c) Beneficence and Non-malificence: Another ethical issue in genetic screening is how a doctor can make an appropriate evaluation of the risks and advantages in the context of principles of beneficence (the intent to do good) and principles of non-maleficence (the intent to do no harm). Both these principles apply to situations in reproductive genetic screening and fertility or assisted reproduction research or treatments which might have adverse impacts. Both these principles are also applicable when a patient takes a decision to use genetic screening which will give genetic information about oneself or the fetus. In many situations, despite the knowledge that the baby has some genetic defect, the mother decides to go ahead and give birth to the baby in a setting which is culturally acceptable to her, like a community setting. In such situations, the ethical issue the doctor faces is how to strike a balance between respecting the patient’s wishes and duty-bound concern regarding harm to the newborn when the proper early healthcare, which might improve the outcome of a dangerous situation, isn’t available.
d) Ethical Issue of Justice: Justice assures that all the individuals get equal and fair treatment. In genetic screening, the vital aspects of justice include equitable access to genetic screening services for every socioeconomic, ethnic and geographic community, as well as proper allocation of scarce resources. Even though this is an important ethical issue, the lack of universal access to healthcare in the USA makes it a major public health issue. Furthermore, many genetic procedures, like pre-implantation testing, are costly and not easily available at all healthcare facilities. Moreover, health insurance may not provide coverage of such screening tests. Also, with certain genetic screening tests, the capability of the doctor to utilize the obtained results in the prediction of risk for a specific disorder might differ in various ethnic populations. Some diseases are more prevalent in some ethnic groups, despite the fact that individuals from other ethnic groups might also be at risk to have children with that disease. Another issue doctors face is the fact that in some disorders, the capability to identify carriers varies with ethnicity. A good example is that the sensitivity of genetic screening in identifying carrier status for mutations of the gene for CF is quite low in Asian American and African American persons, so the clinical information of this test for people from these ethnic groups is limited.
In conclusion, it is now possible to see how ethical issues in genetic screening and testing for diseases arise, what they are, to whom they may apply and the difficulties they create in decision-making, both for the patients being tested and the physicians who have a duty to their patients.
Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG (eds). Assessing genetic risks: implications for health and social policy. Washington (DC): National Academy Press, 1994.
Brody BA. Making informed consent meaningful. Ethics Hum Res IRB 2001;23:1-5.
Lea, D. H.,Williams H., & Donahue,M. P. (2005). Ethicalissues in genetic testing. Journal of Midwifery & Women’sHealth, 50, 234–240.
Lloyd-Puryear MA, Forsman I. Newborn screening and genetic testing. J Obstet Gynecol Neonat Nurs 2002; 31:2007.
The National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The Belmont Report: Ethical principles and guidelines for the protection of human subjects of research. Washington (DC): NIH, PHS, HHS, 1979.
United States General Accounting Office. Report to congressional requesters. Newborn screening: Characteristics of state programs [Internet]. 2003. Retrieved on 12th June, 2011 from:: https://www.gao.gov/cgi-bin/getrpt?GAP-03-449
United States Department of Health and Human Cervices. Office for Civil Rights-HIPPA. Medical privacy-National standards to protect the privacy of personal health information. Retrieved on 12th June, 2011 from: https://www.hhs.gov/ocr/hipaa/finalreg.html.
Informed decision-making and consent: The role of nursing [Internet] 2000 September [cited July 25, 2004]; International Society of Nurses in Genetics, Inc. Retrieved on 12th June, 2011 from:: https://www.isong.org