Ethics is a plural word reflecting the many perspectives individuals may have, based on past experience, upbringing, values, religion, political beliefs, and culture. Basic principles of ethics include autonomy (patient’s right to make decisions and have knowledge about their medical condition), beneficence (acting in the best interest of the patient), nonmaleficence (“do no harm”), and justice (fairness). Complex ethical problems may require consideration of multiple principles that have simultaneous bearing on a given situation.

Ethically challenging areas of genetics include prenatal diagnosis, presymptomatic testing or screening (especially when one is testing for genotypes that predispose to late-onset or adult-onset untreatable conditions), and confidentiality (in particular where genetic knowledge may impact insurance coverage). Genetic tests can reveal information that patients may not want to know (e.g., nonpaternity or previously unknown incest). Genetic information can lead to stigmatization or feeling of guilt and shame. More traditional bioethics issues also appear in the field of genetics: interactions with medical industry, innovative therapies, informed consent, truth telling, research ethics, and involvement of trainees.

Genetic counseling presents a unique set of ethical issues in that each individual may have different values regarding choices with regard to electing to have children or alter the course of a pregnancy based on genetic information. Whereas one family may regard a recurrence risk of 25% for a blinding autosomal recessive (AR) disease as too high for them to elect pregnancy, another couple may consider this a relatively low risk. It is for this reason that genetic counseling must be nondirective, offering options rather than a specific action. Counseling for ocular disorders may raise specific concerns. For example, should prenatal testing for an untreatable disorder that only affects a child’s vision be made available? Should prenatal screening be done for untreatable ocular disorders the genotype–phenotype correlation for which may be difficult to predict (e.g., ABCA4 mutations)? Should a child have predictive testing for a currently untreatable adult-onset cause of vision loss such as retinitis pigmentosa (RP)? To what extent should medical professionals be the “gatekeepers” to such testing or should access be freely available and each individual decide for themselves? Although some societies have issued policy statements around such issues, specific recommendations or medical literature regarding ocular genetic literature are sparse.

Presymptomatic testing, also known as predictive testing, is becoming an increasing issue of concern in ocular genetics as the genotype for more patients becomes available. Much of what has been learned about the ethical challenges in this come from experience with Huntington’s disease, an adult-onset, highly penetrant and untreatable fatal neurological disease. Individuals may be asymptomatic for many years before they develop signs of this progressive illness. Depression or even suicide can occur following a positive or negative predictive test, and the same has occurred for patients with RP. Patients may be adversely affected not only by knowledge that they will likely develop the disease, but also because their expectation of getting the disease, and perhaps altering their lifestyle (e.g., quitting work and traveling), is not fulfilled. They may feel guilty or feel like an “outsider” in the family by being unaffected. Benefits of presymptomatic testing may include the capability of making decisions about reproduction, career choice, or preparing for later life with vision disability. A negative result may bring relief. The decision to undergo testing is highly personal and should be made only after counseling with a genetics professional. Patients should make an informed decision using all available information concerning the risk versus benefits, in particular their own perceptions of risk versus benefit that could result from testing, in the context of the severity, penetrance, and progression of the condition.

If the individual of concern is a child, bioethics principles must be adapted to consider the vulnerability of this population and the inability of the child to express their own voice and autonomy. Testing children for a disease predisposition when the condition can be treated or morbidity significantly reduced (e.g., homocystinuria) is certainly indicated. Testing of children also has the risk of psychological sequelae, stigmatization, and discrimination. Children’s autonomy must be balanced with the desire of parents to obtain genetic information. It is usually accepted that unless there is a clear benefit to the care of the child, genetic testing of asymptomatic children for adult-onset disease should be performed only when the patient is mature enough to decide for himself or herself whether to accept such testing.

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