Genetic testing results: Who has a right’ to know?
Covenant’ helps families avoid conflicts
A woman with a family history of breast cancer considers undergoing genetic screening for the BRCA1 gene. If she tests positive, should she tell her sister, who also might face a genetic predisposition to develop breast or ovarian cancer? Would her sister even want to know?
Two brothers are cared for by the same family physician. Both are married. One requests screening for beta-thalassemia trait and tests positive. He refuses to give consent to have the results divulged to his brother, whose wife is pregnant and could pass the trait to their unborn child.
Unlike other medical diagnostic testing, genetic tests reveal not only information about the patient taking them, but also about their relatives, including parents, siblings, and children.
Inevitably, conflicts will arise over how information resulting from such tests will be used and shared.
"This can be particularly difficult when it is a situation like a family physician treating multiple family members," says David Doukas, MD, associate professor of family practice and community medicine, and a fellow at the center for bioethics at the University of Pennsylvania in Philadelphia. "The patient can say, No, I want this information to be completely confidential,’ yet it might have serious implications for other family members who may also be that physician’s patients, says Doukas. Or the patient may be willing to disclose the information, but certain family members do not want to know."
It can be helpful if the person advising the original patient about genetic testing gets all of the family members together before any test is performed, to talk about what information might be revealed by the test, what implications it has for everyone involved, and decide who does and does not want to be informed about the test results, he says.
Last year, Doukas and Jessica Berg, JD, assistant professor of bioethics at Case Western Reserve University in Cleveland, proposed a model for holding these discussions known as the "family covenant."1
Under this model, the physician or genetic counselor would ask the person considering genetic testing whether they want other family members to be aware of the testing and if they wish to share information about the results with them.
With the patient’s consent, the physician would get all of the family members together for a discussion, Doukas explains. "The intention is to have open communication about how the testing is going to be occurring, how it can potentially affect other family members, and how information can be shared among the family that is in accordance with the wishes and desires of not only the patient, but other family members as well."
Not everyone wants the same news
Even if the patient is willing to share information with other family members, each individual person in that family may feel differently about how much information they actually want, Doukas points out.
"One family member may say, Yes, I want to hear about it when you get the test results,’" he explains. "Whereas, another family member may say, No, I don’t want to know about it. It will make me fatalistic about my life, or I’ll get anxious or upset. I don’t want to know.’ Some people feel very strongly about that."
Having a group conversation prior to any testing helps ensure that all family members are in agreement about who does and doesn’t want information and how to honor each person’s wishes, Doukas says.
Calming fears about disclosure
Another key reason for initiating a family covenant is to educate the patient and family members and resolve any fears they have about disclosure, he adds.
"Some people do wish to have their information kept very private, and that is their right," Doukas says. "But other people don’t want to tell others because they think there is going to be this horrible reaction on the part of the other family members. What you want to do, is to say, No, it is not your fault. It is not like you have this gene and it is spreading like strep throat. It is something that is in the family.’"
And since it does run in the family, the patient may be more at ease with sharing the information so that other family members can do the things they need to do to evaluate their own risk level, he says.
Resolve issues before testing
Many genetic counselors do raise the issue of information disclosure, and ask clients to also consider the impact of genetic testing on other family members prior to the actual testing, says Logan Karns, MS, chair of the ethics subcommittee of the National Society of Genetic Counselors, and a genetic counselor with the University of Virginia Health System in Charlottesville.
"These kinds of situations come up quite often," says Karns. "For example, you may have a person whose grandparent died of Huntington’s disease who is considering undergoing screening, but the person’s parent has never been tested. If the test [on the original patient] is positive, then, by definition, the parent also has the trait."
Or you might have a situation in which a person who is an identical twin wants to undergo testing — which will automatically reveal the same information about the other twin — sort of testing that person "by default," says Karns.
These sorts of awkward situations can be made easier if concerns about possible results of testing and sharing of the information are considered ahead of time, she says.
"If you talk to people ahead of time and say, These are the issues that can come up, and how do you want to handle the results?’" Karns says. "It makes the discussion easier if you end up in an awkward situation."
Sometimes, genetic tests may reveal information unrelated to disease risk at all, notes Karns.
"There are some situations in which, through genetic testing, you find out one member of a family is actually not genetically related to that family," she explains. "That can be very awkward. This is an incidental piece of information that you have uncovered. What do you do with that information? Sometimes, it is related to the test results, because sometimes you can’t answer the question the patient is asking if that person is unrelated to the rest of the family."
Most labs that perform genetic testing have consent forms which explain that, in addition, to information about the disease risk sought, the test also may reveal nonpaternity among other things, she notes.
"It is definitely an issue I raise with people prior to testing," she says. "Once you have the information, it is very hard to ignore it."
Who is the patient?
The key ethical dilemma for providers involved in counseling patients who undergo genetic testing is decide who their patients are and where their primary obligations lie, say Karns and Doukas.
As more genetic tests become available, more family physicians will be called upon to help patients decide whether to seek testing and how to interpret the results, says Doukas.
Frequently, these physicians also will be the primary caregiver for other members of the same family. What if, as in the situations mentioned above, the original patients decide they don’t want to share information, yet the test results pose significant health concerns for other family members?
"A lot of people struggle with what is the duty to inform," says Karns. "You have a person sitting in front of you who is your patient, but you have these other individuals who may benefit from the information. Do you have a duty to tell them?"
Although the family covenant may help avoid such situations, it doesn’t completely eliminate them, notes Doukas. "Sometimes you may have someone pull out of the covenant — that’s the thermonuclear situation. You hope that doesn’t happen, but it can."
Prior to seeing the results, the patient may be willing to share the information. But after the results are in, that person changes their mind.
"The whole family may then show up and say, We never heard the results of the test. We want to know what happened,’" he says. "But, at that point, I think I would have to explain that this person pulled out of the agreement, that I can’t divulge the information because it is private information. That is the stand that you would have to take."
Respecting the autonomy and privacy of an individual is supremely important in the practice of health care, Karns agrees.
"However, genetic testing can create situations that are unusually ethically complex," he explains. "Due to the genetic nature of the results, one person’s information may have a significant impact on another family member. You then find yourself in a situation in which two individuals have competing moral interests."
For example, if one sister tests positive for the BRCA1 gene and did not want to share that information with another sister, Karns says she would strongly feel that the sibling should be told, though she is not sure she would be willing to violate the original person’s confidentiality to do so.
"That person could face significantly higher risk," she notes. "And it is not as if nothing can be done. There are ways of preventing or decreasing the risk to that person. And unless that person has her family history and is definitely getting yearly exams, she may not get the appropriate follow-up until it is too late. That would be a very difficult ethical dilemma for me."
If providers are going to bring other family members into the discussion then, in some ways, those family members also become that provider’s patients, she says.
"You have to decide how to work with them as a group and individually, as well," she says. "You need to make decisions about how information is presented. Some information you can present to the group, and some you may need to present individually."
1. Doukas DJ, Berg JW. The family covenant and genetic testing. Am J Bioethics 2001; 1:2-10.
- David Doukas, MD, Center for Bioethics, University of Pennsylvania, 3401 Market St., Suite 320, Philadelphia, PA 19104-3308.
- Logan Karns, MS, National Society of Genetic Counselors, 233 Canterbury Drive, Wallingford, PA 19086.