Ethics and Legal Considerations of Genetic Testing
Genetic testing is ideally performed for many valid clinical purposes, including the diagnosis of existing genetic diseases, assessment of disease risks, prognoses of responses to drugs and identification of disease risks in unborn children (MedicineNet, 2002). Though valuable, genetic testing has created significant legal and ethical questions for the healthcare industry, including the Diagnostic Radiography field. Armed with advanced techniques for genetic testing, Diagnostic Radiologists are nevertheless forced to examine both the legality and the ethics of applying that technology. It is not logically possible to declare Genetic Testing per se ethical or unethical; rather, individual Genetics Testing procedures and the surrounding circumstances must be reviewed on a case-by-case basis. Furthermore, the ethics of Genetic Testing is separate from the ethics of whatever actions are performed due to the testing results.
An Overview of Genetic Testing
Genetic testing is an immense category of technologies aiding numerous fields within the healthcare industry. The sheer breadth and depth of genetic testing makes a sweeping ethical/moral judgment about genetic testing impossible; rather, the healthcare professional will have to apply his/her ethical education and experience on a case-by-case basis. A sampling of several types of genetic testing shows that it runs the gamut from common and non-intrusive to highly-intrusive and uniquely capable of promoting unethical/immoral behavior.
Examples of Genetic Testing give at least a glimpse of its myriad technologies and applications. Pre-implantation Genetic Diagnosis (PGD), the practice of screening embryos for genetically-based diseases, is used extensively by the Fertility and Surrogacy industries to "eliminate heartbreaking and devastating genetic disease" (Silber, 2011) by discarding "chromosomally abnormal" embryos; unfortunately, PGD has been rightly criticized for inexactitude and misdiagnosis resulting in good embryos being discarded and abnormal embryos being used (Silber, 2011). Prenatal Diagnostic testing, such as prenatal ultrasound screening for Down Syndrome, entails testing the fetus before birth to determine whether the fetus has hereditary or spontaneous genetic abnormalities. Some Prenatal Diagnostic testing, such as ultrasound screening, is deemed a normal part of prenatal care and is valuable to determine whether more invasive genetic testing is advisable (Dungan & Elias, 2008). Newborn Genetic Screening is mandatory in most states and is designed to detect genetic diseases; while it allows newborns' parents to obtain early treatment, it can also create "patients-in-waiting," in "state of limbo that can last for weeks, months or even years, as they wait and watch to see whether their child will become ill" (Ogilvie, 2011). Carrier Screening identifies individuals who are unaffected by a genetic disease but carry one of the two genes that can lead to a genetic disease; carrier screening is recommended for carriers and/or at-risk families before marriage/conception (Isasi & Knoppers, 2006, p. 7). Genealogical DNA testing, also called "Family Tree" testing, is used to determine whether there is a genetic connection between individuals and/or to determine one's ancestry (Powell, 2011); Genealogical DNA testing is now so common and easy that testing kits for less than $150.00 are readily available on the Internet. Pre-symptomatic Genetic Testing is used to predict whether an individual will suffer from adult-onset disorders/diseases, such as Huntington's Disease, cancers and Alzheimer's Disease (Net Industries, 2011); many medico-legal and ethical debates have arisen from testing for Huntington's Disease due to the possibilities of serious psychological distress or suicide in patients discovering that they have this incurable and fatal disease (Net Industries, 2011). Conformational Genetic Testing determines whether a symptomatic individual has the evident disease. Finally, Forensic/Identity Genetic Testing, which uses genetic markers and is one of the most advanced techniques for human identification (Soares-Vieira, Billerbeck, Iwamura, & Munoz, 2000).
3. Genetic Testing and the Laws of Singapore
Singapore currently has no law governing genetic testing per se (Bioethics Advisory Committee, 2005, p. 32). Rather, genetic testing is treated as a clinical matter between doctor and patient, subject to medical confidentiality, and placing the ethical/moral burden of genetic testing on the individual physician. Consequently, "the physician in charge of the patient has ultimate responsibility with regard to the use of a test and the interpretation of the test result" (Bioethics Advisory Committee, 2005, p. 30).
The lack of laws directly governing genetic testing created deep ethical/moral dilemmas for Singapore; consequently, in 2000, the Singapore Cabinet appointed "The Bioethics Advisory Committee" to review genetic testing practices and make recommendations based on the general ethical principles of: "respect for the welfare, safety, religious and cultural perspectives and traditions of individuals; informed consent; respect for vulnerable persons; and privacy and confidentiality" (Bioethics Advisory Committee, 2005, p. 31). The Committee, comprised of medical, philosophical, legal and educational scholars, reviewed genetic testing in Singapore, compared it with practices in other countries, and viewed it through the lenses of ethical/moral principles. The result was an exhaustive report with 24 ethical/moral recommendations. While this paper is supposed to be only 7 pages long, the 24 recommendations cover such ethical depth and breadth that they bear repeating:
a. "Genetic information derived from clinical genetic testing should be regarded as medical information and the usual standards in medical ethics apply in its derivation, management and use" (Bioethics Advisory Committee, 2005, p. 30);
b. "Genetic testing should be conducted in a manner that is respectful of the welfare, safety, religious and cultural perspectives and traditions of individuals" (Bioethics Advisory Committee, 2005, p. 31);
c. "Genetic testing should be voluntary. The individual should be given sufficient time and information to ensure informed consent before testing. Consent should also be obtained for the future use of tissue specimens" (Bioethics Advisory Committee, 2005, p. 32);
d. "The non-consensual or deceitful taking of human tissues for the purpose of genetic testing should be prohibited" (Bioethics Advisory Committee, 2005, p. 32);
e. "We do not recommend the broad use of genetic testing on children and adolescents. Confirmatory testing and predictive testing for genetic conditions where preventive intervention or treatment is available and beneficial in childhood are recommended. Carrier testing should generally be deferred until the child is mature or when required to make reproductive decisions, but where compelling interests of other family members or public health interests exist, the physician should be able to decide, together with the parents, whether or not to determine the carrier status of the child. Predictive testing where there is no preventive intervention or treatment, or where intervention or treatment is only available and beneficial during adulthood, should be discouraged" (Bioethics Advisory Committee, 2005, pp. 34-35).
f. "Clinical genetic testing involving vulnerable persons should only be conducted if it is medically beneficial to the vulnerable persons and after informed consent has been obtained. In the case of persons in dependent relationships, extra care should be taken to ensure that such persons clearly understand that refusal to consent will not prejudice any current or prospective benefit" (Bioethics Advisory Committee, 2005, p. 36);
g. "Results from clinical genetic testing should only be used to advantage or empower an individual or family and for the management or prevention of disease. Such information should not be disclosed to third parties without the informed consent of the individual unless in exceptional circumstances when the information is required to avert serious harm" (Bioethics Advisory Committee, 2005, p. 38);
h. "An individual should be informed of the result of a clinical genetic test without undue delay unless he or she has clearly indicated a wish not to know" (Bioethics Advisory Committee, 2005, p. 38);
i. "Preimplantation genetic screening and diagnosis are permissible, subject to licensing and monitoring by a relevant authority and should be limited to preventing serious genetic conditions. Provision should also be made so that no one shall be under any duty to be involved in preimplantation genetic testing to which he or she has a conscientious objection" (Bioethics Advisory Committee, 2005, p. 42);
j. "The use of preimplantation genetic testing for the selection of desired traits or gender for non-medical reasons should not be allowed" (Bioethics Advisory Committee, 2005, p. 44);
k. "Preimplantation tissue typing, whether as the sole objective or in conjunction with preimplantation genetic diagnosis to avoid a serious genetic disorder, is permissible but should be licensed and evaluated on a case-by-case basis" (Bioethics Advisory Committee, 2005, p. 45);
l. "The clinical practice of germline genetic modification should not be allowed at this time" (Bioethics Advisory Committee, 2005, p. 46);
m. "Prenatal genetic diagnosis should be limited to serious medical disorders. The use of prenatal genetic diagnosis for the selection of desired traits or gender for non-medical reasons should not be allowed" (Bioethics Advisory Committee, 2005, p. 47);
n. "Presymptomatic testing should be available for adults at risk who request it, even in the absence of treatment, after proper counseling and informed consent" (Bioethics Advisory Committee, 2005, p. 49);
o. "Susceptibility testing should not be applied clinically unless there is significant empirical evidence of validity and utility" (Bioethics Advisory Committee, 2005, p. 49);
p. "In genetic screening programmes, a confirmatory diagnostic test should be performed as soon as possible after a positive screening test, so as to minimize unnecessary anxiety or to enable…