Genetic testing

1. Genetic testing Presenter: Shenellie Harry Course : Medical Ethics Lecturer : Dr. Haynes

2. GENETIC TESTING Definition Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins . The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

3. Types of genetic testing Genetic testing can provide information about a person’s genes and chromosomes. Available types of testing include : Newborn screening - is used just after birth to identify genetic disorders that can be treated early in life . Diagnostic testing- is used to identify or rule out a specific genetic or chromosomal condition.

4. Types of genetic testing Carrier testing- is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder . Prenatal testing- is used to detect changes in a foetus's genes or chromosomes before birth . Preimplantation testing- is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder.

5. Types of genetic testing Predictive and presymptomatic testing- Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life .

6. Why is genetic testing controversial? Through genetic testing of large segments of the population or specific individuals requesting it, scientists can identify those whose genes predispose them or their children to certain diseases or disorders.   In some cases this knowledge may allow a person to undergo treatment, in others it may cause a person to refrain from having children. 

7. Why is genetic testing controversial? Unfortunately, though, no cure is currently possible for the majority of conditions discovered through genetic testing. The practice of genetic testing and screening has created moral controversies about who should be tested and what should be done with the results.

8. Impacts on the society - confidentiality  Genetic tests give an assessment of an individual's inherent risk for disease and disability. This predictive power makes genetic testing particularly liable for misuse. Employers and insurance companies have been known to deny individuals essential health care or employment based on knowledge of genetic disposition.

9. Impacts on the society – confidentiality This type of discrimination can be socially debilitating and have severe socio-economic consequences. Finding the right balance between the patient’s privacy and confidentiality of her genetic information, and what is in the best interests of family members, is an ongoing ethical and social challenge.

10. Impacts on the society- stigmatisation Socially, knowledge from genetic tests may lead to stigmatization and discrimination within the community. Refusing to undergo genetic testing as well as choosing to undergo genetic testing can both lead to discrimination and stigmatization depending on the prevalent social norms regarding acceptance and use of the technology.

11. Impacts on the society- stigmatisation  Discrimination can be in the form of denial of health insurance, employment or simply social acceptance. In particular, knowledge of risk of disease may be used by health insurance providers and employers to deny individuals employment , benefits and allowances and medical coverage or health insurance

12. Ethical issues in genetic testing

13. Ethics in genetic testing E thics is important in many aspects of health care but is especially critical when the health care includes genetic testing . However , i t is impossible to discuss all ethical principles that may come into play when dealing with issues raised by available genetic technologies. Yet , the principles of autonomy, informed consent, privacy/confidentiality, beneficence, nonmaleficence, and justice are basic to any discussion of the ethics involved in genetic testing.

14. Autonomy Autonomy - The right of patients to make decisions about their medical care without their health care provider trying to influence the decision . Patient autonomy does allow for health care providers to educate the patient but does not allow the health care provider to make the decision for the patient.

15. Autonomy The duty to respect others' autonomy is paramount in virtually all ethical situations . Informed consent, one application of autonomy, includes: discussion of the purposes , potential benefits, risks , and limitations of a specific genetic test.

16. Autonomy Autonomy also mandates that decisions be voluntary and free from coercion. The decision to have or not have a genetic test is widely believed to be a choice each person should make based on his or her own values and preferences . A third situation in which influencing factors may threaten autonomy is when social values potentially conflict with personal values.

17. Autonomy Dilemmas arise when a person's health care needs may not be consistent with values held by others in society . Persons with a genetic condition may prefer not to learn that their offspring is at risk for the condition, or they may prefer to have offspring with the same condition present in other family members.

18. Autonomy Either of these paths result in consequences that can be devastating. This can present an ethical dilemma for the clinician who must balance respect for the parents' wishes with his/her need to ensure that the couple's baby receives appropriate care. Thus , the issue about whether the individual or society should have priority may also arise with these dilemmas.

19. Privacy Privacy and confidentiality of genetic information present complex and challenging issues that could result in devastating effects for individuals, families, communities, and society . The sensitive nature of the information introduces a compelling question:  What assurances can be made regarding privacy and confidentiality of the genetic information?

20. Privacy Indeed, other questions arise that are consistent with and expand on the safeguarding of information, such as: who owns and controls the information, who should have access to the information, how will the information be interpreted and used,

21. Privacy and how can people be protected from harm that might result from improper disclosure or use of the information. When a person is identified through family history as being at risk for an inherited condition, a genetic test may be available to clarify their chances of developing that disease. The genetic test results may reveal information regarding risk for disease of other biological family members.

22. Beneficence and nonmaleficence An assessment of risks and benefits is reflected in the principle of beneficence (to do good) and the principle of nonmaleficence (to do no harm). These principles are often discussed when a person is considering participation in research or treatments that can have adverse effects . However, these principles also apply to the decision to have a test that will reveal genetic information about oneself or one's offspring.

23. justice Justice is the assurance that all people receive fair and equal treatment . In genetic testing, the key elements of justice are equitable access to genetic services to all socioeconomic, ethnic, and geographic groups, and allocation of scarce resources . Although this is a valued ethical principle, it is weakened by the absence of universal access to health care in the United States .

24. justice In addition, some genetic tests, such as preimplantation testing, are performed at few health centres, are very expensive, and are usually not covered by insurance.

25. Debates on genetic testing Genetic Testing. Scientists now have the ability to analyze your genome and look for specific traits . In some cases, this is very simple: If you have an extra copy of chromosome 21, you will have Down’s syndrome. But in other cases, it’s not quite as clear-cut. What if a test can only give a probability of developing a disorder? What about other kinds of genetic tests, such as a test to see what kind of sports your child might be good at? How far should we go with genetic testing ?