Patients taking pre-emptive action due to genetic results
Bioethicists have a crucial role to play
Angelina Jolie's widely publicized bilateral mastectomy brought a great deal of public attention to the issue of what to do in response to genetic testing results, but also raised some important ethical concerns, according to bioethicists interviewed by Medical Ethics Advisor.
"I think it is very helpful for a celebrity to be brave enough to step forward and talk about these issues, because it makes them more of an everyday conversation," says Gail Jarvik, MD, PhD, professor of medicine and genome sciences at University of Washington in Seattle. "But when she is speaking about it in a way that suggests it was her only option, we need to take a step back and remind patients of other options."
For instance, patients might opt for more intensive screenings or medications to reduce risks. In addition, the decision to immediately have a mastectomy and postpone removal of ovaries is not necessarily the order that some patients would choose, adds Jarvik, as screening and treatment options for ovarian cancer are very poor.
Jarvik notes that the ability of patients to take preventive action based on genetic test results is not new, and has been offered for more than a decade for BRCA 1/2.
"It's very powerful for women to have information with which to make decisions," she says. "Some are put in the position of having a strong family history where we do not know the genetic basis. Therefore, we have to make decisions just based on a statistical model."
If women know they have the mutation and a high risk of breast cancer, for example, screening can allow them to make a decision based on better data. "It's useful for people to be reminded to look at their family history of cancer and potential preventive measures, whether or not they have a genetic result," adds Jarvik. "Certainly, we hope that some people will come to medical geneticists who might not have thought of it before."
Lack of genetic counseling
Whoever orders genetic testing should provide appropriate pre-test counseling about the potential implications of the results, underscores Reed E. Pyeritz, MD, PhD, director of the Center for the Integration of Genetic Healthcare Technologies and professor of medicine and genetics at the University of Pennsylvania in Philadelphia. "The results should be presented to the patient in a situation in which questions can be addressed, and the patient's potential responses to the results discussed," he says.
Some genetic testing can be arranged directly by lay people, however. Some of the laboratories offering such "direct-to-consumer" testing introduce barriers to access the results that require consumers to acknowledge they are about to receive potentially disturbing results, and some provide access to genetic counselors should the consumer wish to have results interpreted or potential actions discussed.
Charis Eng, MD, PhD, FACP, chair and director of the Cleveland Clinic's Genomic Medicine Institute in Cleveland, OH, says that the biggest current ethical issue she sees involves non-trained physicians drawing blood for BRCA 1/2 testing, when those may not be the correct genes to test for, as there are 10 different breast cancer predisposition genes. Many do not do counseling pre- or post-test, she adds.
"I'll tell you this is happening all over the country," says Eng. "In this situation, we are robbing the patient of proper information and limiting her autonomy, and decrementing beneficience."
Kenneth W. Goodman, PhD, professor and director of the Bioethics Program at University of Miami (FL), says, "One of the most interesting lessons we're learning from the genetic revolution relates to how people behave when confronted with probability data," he says. "Some will run the risk of surgery, in the often false belief that surgery always prevents some dreaded malady from occurring."
Health literacy in the 21st century needs to include statistics and probability, argues Goodman. "Anyone contemplating removing a healthy body part because a celebrity did so should take a deep breath and talk to a trusted physician," he says. "Pre-emptive amputations are, themselves, risky, and should be considered only with the greatest caution and deepest possible understanding."
One important role for the bioethics community is providing guidance to patients and providers about medical probability and risk reduction. "When risk and fear are closely related and they often are there is usually an ethical issue that requires discussion," says Goodman.
Bioethicists can help clinicians to communicate uncertain genetic information to patients and families, for instance. "As we are turning to genetic testing more often, we will find more variants of uncertain significance," says Jarvik. "It's certainly been our experience that patients assume the worst, but most of these variants turn out to be benign. It is very hard information for people to understand."
Undoubtedly, people will be influenced by widely publicized cases involving taking pre-emptive action due to learning genetic results, such as prostate removal or mastectomy due to testing positive for the BRCA 1/2 genes. "Often this can be for the good. People who were in denial about familial risks or reluctant to seek testing will be motivated to act," says Goodman. "However, actions taken by celebrities may not be appropriate for everyone. The average consumer must have his or her results interpreted by a knowledgeable health professional." Goodman sees these roles for bioethicists:
- Advising direct-to-consumer companies on best practices.
- Serving as resources to health professionals who face unfamiliar or complex genetic testing situations.
- Advising laboratories, professional organizations, insurers, and health professionals as new complexities arise in genetic testing, such as the occurrence of incidental findings when whole exome or genome sequencing is employed.
Eng notes that BRCA 1/2 were discovered in 1995 and 1996, respectively, and bioethicists and clinical psychologists have already studied many questions to guide the practice of clinical cancer genetics. "After 18 years of robust research, the community actually knows a lot about clinical outcomes of carrying the mutation, how best to return results, and how to utilize gene mutations for medical management," she says.
Prophylactic mastectomy and oophorectomy have been studied and found to be efficacious in very high-risk situations, notes Eng, whereas BRCA-related prostate cancer risks occur at the usual age for routine screening in the general population, and management Guidelines aren't changed from the general population's. "It would be very unusual and I've never seen it in my patients for patients, if properly counseled, to opt for prophylactic prostatectomy," she says.
- Charis Eng, MD, PhD, FACP, Chair and Director, Genomic Medicine Institute, Cleveland, OH. Phone: (216) 444-3440. Email: firstname.lastname@example.org.
- Kenneth W. Goodman, PhD, Professor and Director, Bioethics Program, University of Miami (FL). Phone: (305) 243-5723. Email: email@example.com.
- Gail Jarvik, MD, PhD, Professor of Medicine and Genome Sciences, University of Washington, Seattle. Phone: (206) 221-3974. Email: firstname.lastname@example.org.
- Reed E. Pyeritz, MD, PhD, Director, Center for the Integration of Genetic Healthcare Technologies/Professor of Medicine & Genetics, University of Pennsylvania, Philadelphia. Phone: (215) 662-4740. Email: email@example.com.