Fox Chase study shows families don't understand genetic test results or their implications

December 12, 2013

PHILADELPHIA (December 12, 2013)--A study done by researchers at Fox Chase Cancer Center shows that many relatives of patients who undergo testing for a gene linked to breast and ovarian cancers misinterpret the results, and less than half of those who could benefit from genetic testing say they plan to get tested themselves--despite the fact that knowing your genetic status may help catch the disease in its earliest stages. The study results will be presented on Thursday, December 12 at the 2013 San Antonio Breast Cancer Symposium.

"People don't always understand genetic information, so there's confusion," says study author Mary B. Daly, MD, PhD, chair of the Department of Clinical Genetics at Fox Chase. "Family members are either not understanding what they're hearing, not realizing it has implications for them, or they're not hearing it at all."

For a long time, Daly says she "naively" assumed that, once one family member knew whether or not they carried genes linked to breast and ovarian cancers--known as BRCA1/2--their entire family would understand the result, and what it meant for their own genetic risk. "Over time, we realized that wasn't happening, or it wasn't happening very well."

Some genetic information is straightforward, says Daly. For example, when a woman learns she carries BRCA1/2 that means her parents, siblings and children may also carry the gene. But there are more "indeterminate" results, which are harder to interpret, she adds. If a woman with a strong family history of breast and ovarian cancers tests negative for the BRCA1/2 genes, that does not mean her relatives are not at risk, says Daly--her siblings could still carry the gene, or there could be additional genes present that predispose them to cancer that clinicians don't yet know how to test for.

"When you look at some of these families who are so full of breast and ovarian cancer, and the person tests negative, you think there's got to be something going on here. We just can't find it. That's a difficult thing for someone to explain to a relative," says Daly.

To understand better what was (and was not) being communicated after people underwent genetic testing, Daly and her team called 438 relatives of 253 people who had undergone genetic testing and said they'd shared their results. More than one-quarter of family members reported the test result incorrectly. They were most likely to understand positive results--like their family member carries the BRCA1/2 gene. But only 60% understood the so-called "indeterminate" results, where their relative tested negative for the gene but they and other family members could still be at risk. Nearly one-third said they had trouble understanding the result.

Concerningly, only half (52%) of family members whose relative tested positive for the BRCA1/2 gene said they planned to get tested themselves. Among those whose relative tested negative for the BRCA1/2 gene, but knew the gene was present in their families (meaning they could still carry the gene), only 36% said they were going to find out their own genetic risk. "These findings imply the family members did not fully understand the significance of these results for their own risk," says Daly.

People were more likely to share their results with adult children than parents or siblings, and particularly with female relatives. "Over and over you hear people say 'I'm doing this for my children's sake,'" says Daly.

As part of the study, Daly and her colleagues had asked half of the people getting tested to participate in two coaching sessions to help them communicate their results to relatives, such as through role playing. However, these people were no more likely to communicate the result of their tests than people who had simply sat through educational sessions about overall health. "It didn't matter which group they were in, unfortunately," says Daly. "That disappointed me."

But it also inspired her to develop the next project--exploring the effect of directly reaching out to the relatives of someone who underwent genetic testing (with that person's permission), to see if hearing the results from an expert who's not personally involved in the situation helps family members understand what they mean.
-end-
Daly's co-authors on the study include Susan Montgomery, RN, BSN, OCN, Ruth Bingler, BS, and Karen Ruth, MS.Fox Chase Cancer Center, part of the Temple University Health System, is one of the leading cancer research and treatment centers in the United States. Founded in 1904 in Philadelphia as one of the nation's first cancer hospitals, Fox Chase was also among the first institutions to be designated a National Cancer Institute Comprehensive Cancer Center in 1974. Fox Chase researchers have won the highest awards in their fields, including two Nobel Prizes. Fox Chase physicians are also routinely recognized in national rankings, and the Center's nursing program has received the Magnet recognition for excellence four consecutive times. Today, Fox Chase conducts a broad array of nationally competitive basic, translational, and clinical research, with special programs in cancer prevention, detection, survivorship, and community outreach. For more information, visit Fox Chase's Web site at http://www.foxchase.org or call 1-888-FOX CHASE or (1-888-369-2427).

Fox Chase Cancer Center

Related Cancer Articles from Brightsurf:

New blood cancer treatment works by selectively interfering with cancer cell signalling
University of Alberta scientists have identified the mechanism of action behind a new type of precision cancer drug for blood cancers that is set for human trials, according to research published in Nature Communications.

UCI researchers uncover cancer cell vulnerabilities; may lead to better cancer therapies
A new University of California, Irvine-led study reveals a protein responsible for genetic changes resulting in a variety of cancers, may also be the key to more effective, targeted cancer therapy.

Breast cancer treatment costs highest among young women with metastic cancer
In a fight for their lives, young women, age 18-44, spend double the amount of older women to survive metastatic breast cancer, according to a large statewide study by the University of North Carolina at Chapel Hill.

Cancer mortality continues steady decline, driven by progress against lung cancer
The cancer death rate declined by 29% from 1991 to 2017, including a 2.2% drop from 2016 to 2017, the largest single-year drop in cancer mortality ever reported.

Stress in cervical cancer patients associated with higher risk of cancer-specific mortality
Psychological stress was associated with a higher risk of cancer-specific mortality in women diagnosed with cervical cancer.

Cancer-sniffing dogs 97% accurate in identifying lung cancer, according to study in JAOA
The next step will be to further fractionate the samples based on chemical and physical properties, presenting them back to the dogs until the specific biomarkers for each cancer are identified.

Moffitt Cancer Center researchers identify one way T cell function may fail in cancer
Moffitt Cancer Center researchers have discovered a mechanism by which one type of immune cell, CD8+ T cells, can become dysfunctional, impeding its ability to seek and kill cancer cells.

More cancer survivors, fewer cancer specialists point to challenge in meeting care needs
An aging population, a growing number of cancer survivors, and a projected shortage of cancer care providers will result in a challenge in delivering the care for cancer survivors in the United States if systemic changes are not made.

New cancer vaccine platform a potential tool for efficacious targeted cancer therapy
Researchers at the University of Helsinki have discovered a solution in the form of a cancer vaccine platform for improving the efficacy of oncolytic viruses used in cancer treatment.

American Cancer Society outlines blueprint for cancer control in the 21st century
The American Cancer Society is outlining its vision for cancer control in the decades ahead in a series of articles that forms the basis of a national cancer control plan.

Read More: Cancer News and Cancer Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.