Ethical Issues in Genetic Testing

Dale Halsey Lea, RN, MPH; Janet Williams, RN, PhD; M. Patricia Donahue, RN, PhD

Disclosures

J Midwifery Womens Health. 2005;50(3):234-240. 

In This Article

Ethical Principles and Genetic Testing

The Committee on Assessing Genetic Risks, Division of Health Sciences Policy, Institute of Medicine, emphasizes autonomy, confidentiality, privacy, and equity (justice) as being foundational for analysis of questions related to genetic testing.[8] It is impossible to discuss all ethical principles that may come into play when dealing with reproductive 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.

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. Even more crucial is the fact that participation in the activity is voluntary, and participants understand the relevant information.[9] Some clinical situations, such as newborn screening, use a process of passive consent (i.e., parents have the right to refuse the procedure), but if there is no refusal, the procedure is completed. In newborn screening, parents may not be fully informed about the potential impact of test results. This is evident in the following example:

 

Mrs. T has given birth to a baby boy, Ryan, at a community hospital. Mr. and Mrs. T are both Caucasian. During the first 24 hours, the nurse explains that newborn screening tests done in their state include sickle cell screening. Mr. T tells the nurse that he is not worried about the sickle cell screening because that is primarily a disease in African Americans. The newborn screening results show that Ryan is a carrier for sickle cell disease. Ryan's pediatrician calls the parents to tell them of the results. Mr. and Mrs. T are shocked because "…we know that we don't have African American relatives." At a follow-up visit, Mrs. T expresses concern to the nurse-midwife saying, "I don't see how this can be. What will we tell our family?"

 

As this case exemplifies, newborn screening may raise unexpected questions that reveal gaps in both education and knowledge necessary for adequate consent. In this case, the parents are shocked because they were not adequately informed about the possibility that their child could be a carrier, as 1 in 300 Caucasian individuals is a carrier of the gene for sickle cell anemia. In most states, informed consent for newborn screening is a passive process, with accommodations for parents who decline newborn screening. In the year 2000, the Newborn Screening Task Force recommended that parental education receive greater attention.[10] This approach should help to improve parents' understanding of the screening process, decrease anxiety that can occur when a positive result is obtained, and increase adherence to further testing and follow-up. The task force emphasized the importance of adequate parent education and shared decision making because of the expansion of newborn screening to include new DNA-based tests and screening for conditions for which treatment may not be available or the efficacy of treatment is not yet known.[10] Current knowledge about the tests involved in newborn screening is now essential for clinicians to prepare them to educate families about the benefits and limitations of newborn screening and participate in ongoing dialogue to determine newborn screening policy.[11]

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.[12] A clinical example illustrates this concern:

 

Mary, a 31 year-old G1 P1 Caucasian woman and her husband have a preconception appointment with a midwife to talk about a future pregnancy. This is a first visit for Mary with the midwife. When providing her family history, Mary notes that her first cousin had a baby with Cystic Fibrosis (CF). Her first cousin has been writing to all of the relatives about the importance of having CF testing. She has called Mary several times insisting, "I get tested so that I can prevent having a child with CF in my family and the terrible trauma this can cause." Mary's husband says that he is concerned and wants "all the testing we can have." Mary explains that she does not wish to have this testing and does not feel that having a baby with CF would be traumatic for her.

 

One of the most important components of informed decision is the discussion that takes place before ordering a genetic test. Families may exercise a strong influence, frequently of an emotionally charged nature. For a midwife who sees individual decision makers as acting on their own, and influenced only by reasoned argument, the family pressures in Mary's case can be problematic. On the other hand, it is helpful to consider that individuals may be members of a family who make choices as a group, and that strong influences, such as those from Mary's cousin and husband, may not interfere with voluntary decision making.[13] Exploring the person's values, coping styles, and nature of her feelings about involvement of the family in genetic CF carrier test decision will facilitate the process.

A third situation in which influencing factors may threaten autonomy is when social values potentially conflict with personal values. 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. 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.

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? 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, and how can people be protected from harm that might result from improper disclosure or use of the information?[14]

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. The protection of privacy of a genetic test result for one family member can mean that others in the family who are at risk to have the disorder or to have offspring with the disorder will be unaware of this risk. An example of a family in which privacy of genetic information is maintained illustrates this point:

 

Judy is 32 years old, and in her first trimester of pregnancy. When taking the family history, the clinician notes that Judy has a 40-year-old brother with mental retardation. He is currently living at home. Judy's mother told her that his problems were due to loss of oxygen when he was born, and there wasn't any genetic reason for his learning problems. Judy has a 30-year-old sister who does not have any children. Judy tells the clinician that her parents are very protective of her older brother. She would like to have "any testing that I can to find out whether I will have a boy who has mental retardation, but I don't want my family to know." Judy pursues genetic testing and is found to be a carrier of a fragile X gene mutation. She decides to have amniocentesis and results show that her fetus is a boy who has not inherited the fragile X gene mutation. At her follow-up visit, she tells the clinician that she understands that it is likely that her mother is a carrier of this condition, and that her sister may also be a carrier. However, she confesses that she is so relieved, but, "still, I don't want my family to know that I had this testing and that I am a carrier. I think they would feel guilty. And I just don't know what I would say to my sister."

 

In this situation, identifying Judy as a carrier for the fragile X gene mutation means that other maternal family members, such as her mother, sister, maternal aunts/uncles, and maternal cousins, may also be carriers of this gene mutation. This raises the issue of whether the clinician has a duty to override her patient's wishes to keep test results private to warn other family members of their risk. The clinician's practice in this situation is governed by HIPPA privacy regulations, which identify genetic information as health information protected by the Privacy Rule. Like other protected health information, the midwife has the duty not to disclose this information without signed consent from the patient.[14]

Beneficence and Nonmalificence

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.

 

Martina is a 22-year-old G1 P0 Hispanic woman, who has come to the prenatal clinic at 17 weeks of pregnancy. She is accompanied by her community partera (Spanish = midwife), who will be caring for her throughout her pregnancy. In taking the initial history, the clinician discovers that Martina has a sister who was born with spina bifida, and who died in early childhood. She tells the clinician that her sister was a special gift to the family. She explains that she has heard about testing that is done in pregnancy to find out if she is carrying a baby with spina bifida, and that her older sister was told that "she had to have this testing for the health of her baby" when she was pregnant. Martina says that she does not want to have this testing, as she will "accept whatever God gives me for a child." She tells the clinician that she has talked with her mother, sister, and partera, and they think that this is the right decision, too. Martina tells the clinician that she does want to have an ultrasound to find out whether she will be having a boy or a girl.

 

The clinician can describe the multiple-marker screening test and subsequent testing that would be offered if Martina chooses to have the screening test, noting the potential uses and limitations of the test. The clinician would make sure that Martina adequately understands the information presented. This includes making sure that Martina has the opportunity to hear the information in the language she is most comfortable with. This is critical to the process before Martina makes a decision.[15] With knowledge of the family history information and the support of Martina's decision-making process, including the right not to know, the clinician can provide culturally sensitive and appropriate genetic information, which includes a balanced discussion of the test and what the potential benefits or harms might be to Martina.

 

Martina's ultrasound reveals that her baby has spina bifida. Martina tells the clinician she is not surprised "as she knows her baby is a special gift." She also tells the clinician that she wants to have her baby in her community hospital with the partera assisting in the delivery.

 

In this situation, the ethical dilemma for the clinician is the balance between respecting Martina's wishes and concern about possible harm to the baby if he is not born in a setting in which early care can improve the outcome. Respecting Martina's wishes regarding maternal serum screening supports the principle of doing no harm. This principle is strengthened by working with Martina to develop a plan for the baby's birth in which supportive medical and nursing care are available immediately upon delivery of this baby with complex health problems. The discussion with Martina, her family, and the partera would include talking about the risks of having the baby at the community hospital and the benefits to the baby of being delivered in a tertiary care hospital.

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

Furthermore, for some genetic tests, the ability of a clinician to use results of a genetic test to predict risk for a specific disorder may vary for different ethic populations. Certain disorders are more commonly associated with specific ethnic groups, even though persons from other ethnic groups also may be at risk to have offspring with that condition. One example is Tay Sachs disease, in which the carrier frequency in Ashkenazi Jews is 1 in 30. Among persons of other ancestries, the frequency is lower, but not zero. For some disorders, the ability to identify carrier status will vary according to ethnicity. For example, the sensitivity of tests to identify carrier status for a mutation in the gene for CF is lower among Asian American and African American persons; thus, the clinical utility (i.e., the degree to which benefits are provided by positive and negative tests) of this test for persons from these ethnic groups may be limited.[16]

 

Frances and her husband Steve come to their first prenatal visit with many questions. This is their first pregnancy, and they have concerns if their baby will get testing for sickle cell anemia (SCA), since they are of African American ancestry. The midwife talks with them about the option of carrier testing for SCA and the option of amniocentesis or cordocentesis if both are identified to be carriers. He also talks with them about the newborn screening panel, which includes screening for SCA. During the discussion, the midwife brings up carrier screening for CF. The couple expresses surprise at this as they "thought that CF was a disease that happened only in Caucasian couples." Frances and Steve tell the midwife that they do not want to have carrier testing for SCA or CF, as they have heard of concerns about discrimination against carriers.

 

In this situation, the midwife is offering additional genetic testing based on recommended American College of Obstetricians and Gynecologists (ACOG) guidelines that CF carrier testing be actively offered to Caucasian and Ashkenazi Jewish couples and be "made available" to all pregnant couples.[16]

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