Week 5: Ethical, Legal & Social Issues in Applied Genomics

Outline of Lecture 1 Ethical issues in genetics and genomics.. Case study Quiz

Outline of Lecture 2: Session 1 In this module, we will focus on the following ELSIs: Informed consent potential for stigma and discrimination confidentiality and privacy return of genetic test results

Key Ethical Issues in Genetics and Genomics The use of genomics technology in health care and health research also raises a number of ethical issues. There are concerns that genomics could be used in ways that may harm individuals or populations diagnosed with certain health conditions through the use of genetic technologies for the screening, prevention, diagnosis, and treatment of diseases.

Informed consent Consent is one of the fundamental pillars of bioethics Three main components of Valid consent comprehensibility (understandable and sufficient information) Voluntariness Capacity to consent (a competent adult)

Informed consent in genomics research &applied genomics Four consent models for genomics research : Specific consent: allows for restricted use of samples and data for a single study or a specific research topic. Broad consent: allows for the reuse of collected samples and genomic and phenotype data for future research but with certain restrictions for example after approval by an ethics committee.

Informed consent in genomics research &applied genomics Tiered consent: A consent model in which research participants are given a set of options to select how they want to participate in the research. Dynamic consent: continued receipt of information on their samples and data in research. make decisions or alter their preferences on use of their samples and data for other studies over time.

Key Elements in an Informed Consent Form Objectives of the research Research Process Who are the investigators Voluntariness Confidentiality Risks Benefits Compensation Contact persons Informed consent certificate/attestation

Things to consider when developing consent form Cultural acceptability Community involvement Translation Pilot test

Confidentiality and Privacy Breaches to patient and research participant’s privacy and confidentiality may have various effects on patient management and the research process. It could lead to stigma and discrimination, breach of trust between research participants and the research team or between the patient and the medical team.

Confidentiality and Privacy It is recommended that genuine efforts be made to maintain the privacy and confidentiality of patient and research participant information in the management, sharing and reporting of samples and data. Also, adequate measures but be put in place to anticipate and appropriately manage possible risks to patients and research participants and their communities.

Confidentiality and Privacy Where will data and/or samples be stored How long will data and samples be stored Who will have access to data and samples What degree of confidentiality can be maintained

Return of individual genetics test results In some countries. as part of public health measures there is mandatory population screening for certain genetic conditions e.g. mandatory new born screening for sickle cell disease in some countries

Return of individual genetics test results Generally, the major challenge is when the test results we have are probabilistic and it is difficult to tell if the patient may or may not develop the disease in question. In such a case, we are challenged to think about the duty to care and the duty to advance knowledge

Discrimination and Social Stigma Human genomics research sometimes involve groups of people suffering from stigmatised health conditions, behaviours, phenotypes or lifestyles. In such cases, reporting of genomic test results has the potential to aggravate the existing stigma or discrimination. This is particular so in cases were certain cultures and belief systems may marginalise or stigmatise individuals with certain health conditions. It is important that feedback of genetic test results take into consideration cultural and religious beliefs and practices.

Discrimination and Social Stigma There are concerns that genetic testing and access to genetic information by employers and health insurers could lead to discrimination and /or social stigma. As health professionals, we have a responsibility to protect patients, research participants and their families against discriminate use of their genetic information.

Discrimination and Social Stigma As health professionals and researchers , there is the need to discuss this risk with patients and research participants so that they can make an informed decision about whether or not they will like to do a genetic test or be involved in a genetic/genomics research

Ethical Dilemma situation that arises when all alternative choices or behaviours have been deemed undesirable because of conflict or opposition between personal values, moral principles, personal and professional obligations and lastly the rights of individuals and society.

ethical decision making approaches Four major ethical decision making approaches Utilitarian Approach - Moral behavior produces the greatest good for the greatest number Individualism Approach- Acts are moral when they promote the individual's best long-term interests, which ultimately leads to the greater good.

ethical decision making approaches Moral-Rights Approach- Moral decisions are those that best maintain the rights of those people affected by them. Justice Approach- Moral Decisions must be based on standards of equity, fairness, impartiality.

Case Study 2 What are the ethical issues raised by this case Nanga, a 28 year old lady walks into your clinic for a routine check-up and was told about the availability of genetic testing for identifying a predisposition to breast cancer. Though she had no family history of breast cancer, she decided to have the genetic test done. Nanga result revealed that she has a mutated BRCA1 gene meaning she is at high risk for developing breast and ovarian cancer. She is preparing for her wedding with Kalu who comes from a family with a history of breast cancer. Kalu’s mother died of breast cancer when he was very young. In preparation for their wedding, Kalu and Nanga came back to the clinic for genetic counselling. During history taking, Kalu expressed his concern that the experience of nursing someone with cancer is something he won’t want to go through. So Nanga decided to keep the result to herself. What are the ethical issues raised by this case As the charge nurse, what are your ethical obligations to Kalu and Nanga

QUIZ and ESSAY TOPIC Essay Topic Quiz Read the following article, pick an ethical issue of your choice and narrate a clinical scenario where you were challenged to think about the issue and how you addressed it. Based on knowledge acquired in the module, what, if anything, would have done differently to address the ethical issue. de Vries, J., et al. (2011). "Ethical issues in human genomics research in developing countries." BMC Medical Ethics 12(1): 1-10. https://bmcmedethics.biomedcentral.com/articles/10.1186/1472-6939-12-5