Patients need guidance when sharing genetic screening results: Consider ethics
Executive Summary
Patients are often reluctant to disclose abnormal results of genetic testing to other family members who may be impacted by the information. Ethical considerations include patient privacy and acting in the "greater public interest." Providers should:
Information isn’t always beneficial to family members
A patient came for a consult for a prophylactic bilateral salpingoopherectomy — the removal of fallopian tubes and ovaries — because of a strong maternal family history of breast cancer.
"The patient’s mother had breast cancer, but did not want to get genetic testing for BRCA mutation, as recommended, because she did not want to know,’" says Janet Osborne, MD, associate professor at Virginia Tech Carilion School of Medicine and Research Institute in Roanoke. Osborne is also section chief in the Division of Gynecologic Oncology.
The patient had the testing done and was found to be BRCA1 mutation positive. "By default, that would mean her mother was as well," says Osborne. "Our patient chose to disclose this information to her mother anyhow, in hope that her mother would have appropriate prophylactic surgery."
The patient also disclosed the results to other family members, several of whom went on to have testing themselves and were also found to be mutation carriers. "In this case, lives have been saved by disclosing information that was not requested initially by the individuals themselves," says Osborne.
Patients need guidance
Because genes are shared in families, a genetic test of one person can alert others in the family that they may also have inherited the same flawed gene. "For example, a test result that indicates the presence of a BRCA1 or BRCA2 susceptibility gene raises the chances of breast cancer during a woman’s lifetime from about 10% to as much as 80%," says Doris T. Zallen, PhD, professor in the Department of Basic Sciences at Virginia Tech Carilion School of Medicine in Roanoke and the Department of Science and Technology in Society at Virginia Tech in Blacksburg. Zallen is author of To Test or Not to Test: A Guide to Genetic Screening and Risk and Does it Run in the Family? A Consumer’s Guide to DNA Testing (both Rutgers University Press).
Patients often do not want to disclose abnormal results of their own genetic testing to other family members who may be impacted by the information, however. "Ethical considerations are patient privacy and acting in the greater public interest,’ which in this case, consists of a small group of relatives," says Osborne.
The United Kingdom General Medical Council’s guideline allows a physician to disclose a patient’s genetic information to at-risk family members if the patient refuses to do so. "However, in the U.S., many states have laws specifically protecting the confidentiality of genetic testing without the patient’s informed written consent," notes Osborne. She advises that physicians or genetic counselors take these steps:
• Address the possibility of inviting family members to partici-pate in the testing process during pre-test counseling.
• Be available to assist the patient with communication of results to family members.
Having genetic information about one person can open the door for others in the family to undergo testing to determine their own genetic status.
"If the same susceptibility gene is found, family members can have more frequent medical monitoring to detect any disease state early when treatment is most successful," says Zallen. They may choose to go further and opt for risk-reduction strategies such as drug treatments and even surgical removal of organs at risk.
"This ability to help others in the family, allowing them to take action to reduce their risk, is often the reason given for having genetic testing," explains Zallen.
For some, a burden
While genetic information can benefit some families, for others it can be an unwelcome burden. "Not every person in the family may benefit from knowing his or her genetic status," says Zallen.
Such knowledge can create emotional difficulties as people cope with effects of living with what some call a "ticking time bomb." "Emotional difficulties can be intense if there is no way currently available to reduce the risk, as is the case with Alzheimer’s disease," says Zallen.
There can be survivor guilt if some family members are found to have the flawed gene, while others are spared. Parents may suffer when they learn they have passed on a flawed gene to children.
"In some cases, family tensions arise as people with the flawed gene are marginalized, or find that fingers of blame are being pointed their way," says Zallen.
Problems obtaining insurance is another concern. "Given the past history of genetic discrimination in the U.S. and the breaches of medical and other records that have been reported recently in the media, people are concerned about maintaining the privacy of their genetic information," says Zallen.
The Genetic Information Non-Discrimination Act of 2008 provides protection against the use of genetic-test information in health care insurance and employment, but it does not cover long-term care insurance, life insurance, or disability insurance.
"Obtaining genetic information cannot be assumed to be beneficial to all family members," underscores Zallen.
Obligation is on the patient
Health care providers should convey the strengths and limitations associated with genetic testing with patients considering genetic testing for themselves, or who are facing the challenge of informing other family members, recommends Zallen.
"Genetic counselors are trained to do this, but there are too few of them to meet the need," she says. "Many people simply do not have access to genetic services."
Health care professionals have pledged to maintain patient privacy and they have neither time nor resources to identify and track down family members, adds Zallen. Therefore, it is up to each patient to make the results known within the family.
"However, health care professionals should certainly encourage patients to do so," says Zallen. "They should provide them with written or other materials to help in explaining genetic results to others."
