Most Young Women With Breast Cancer Want a Say in What Information to See From Genetic Test Results
A recent study in Patient Education and Counseling found that most young women want to be involved in deciding which test results to see after getting genetic testing for breast cancer. The majority wanted to make the decision themselves or to share the decision-making with their doctor.
Women diagnosed with breast cancer at age 45 or younger are encouraged to get genetic testing. This is because young age at diagnosis suggests the cancer may be related to certain gene mutations. Mutations in the BRCA1 or 2 genes are the most well-known of these. Everyone has BRCA genes, but only some carry mutations in these genes.
Different types of genetic testing are available now if there is reason to believe you carry a gene mutation linked to breast cancer risk:
- Single-site genetic testing looks at specific locations where a gene mutation puts a person at higher risk of breast cancer.
- Multi-gene panels look for mutations in a number of different genes that affect breast cancer risk.
- Genome sequencing tests a large number of possible gene mutations. Some of these possible mutations, like those in the BRCA genes, provide information that can help guide treatment decisions but there are many that don’t have a proven link to risk right now or can’t be acted on by doctors.
Knowing a person’s genetic risk can help with treatment decisions and identifying family members that may benefit from screening at a younger age. But genome sequencing also provides a lot of information that is not helpful in deciding treatment today. It can find mutations that have been linked to breast cancer risk, but also many others that don’t mean anything right now. Because these results don’t affect treatment but can be meaningful to people concerned about their risk, it is important to consider how much of a role someone wants in deciding what they want to see from their results. A person may prefer to have their provider make the decision about what results are important to share, partner with their provider in making the decision, or make the decision by themselves.
Participants were recruited from the Young Women’s Breast Cancer Program. YWBCP began in 2005 as a nationwide cohort of women with breast cancer diagnosed at age 40 or younger.
Women from this cohort were asked to complete a survey about what role they would like when deciding how much information their doctor should tell them about genome sequencing results. The women would not actually get genome sequencing, and they were not asked what information they would want to get if they did get sequencing. Researchers focused specifically on, if they were getting genome sequencing, how much say would they want in what results to see and how much they would want the doctor to decide.
Participants were asked to choose from several role preferences, which have been grouped into three categories:
- Passive role – the provider has primary responsibility for deciding what genome sequencing results are shared.
- Collaborative role – the provider and patient decide together what results are shared.
- Active role – the patient has primary responsibility for deciding what results to share.
Participants were also asked if different factors, such as worry or their knowledge about genetics, could impact their preferences. Women were invited to participate in the study by completing a survey online, by phone, or by mail. Each participant filled out a single survey and received $10 for their participation.
In total, 1,778 women were invited to participate in the study and 1,080 responded. The participants were asked their preferred role when receiving genome sequencing results in the context of either medical treatment or a research study.
If the results were used as a part of medical care, most women wanted an active or collaborative role in the decision-making process:
- 45 percent preferred an active role
- 45 percent preferred a collaborative role
- 10 percent preferred a passive role
If the genome sequencing was for a research study, women preferred a more active role:
- 57 percent preferred an active role
- 33 percent preferred a collaborative role
- 10 percent preferred a passive role
Since the results of research studies do not usually have an immediate impact on treatment decisions, the researchers believe participants likely wanted greater control in the event that the results could be useful in the future.
Women with biological children preferred a more passive role in the decision-making process, preferring to allow a healthcare provider lead the process. The researchers think this is because parents want to receive the results but worry how the results could impact their children’s health in the future.
The group of participants was not diverse — over 90 percent of participants were non-Hispanic white. Previous research has shown that patient role preferences are influenced by race and ethnicity. Also, the participants were not receiving actual genome sequencing results. They were asked to imagine what their role preference would be in imaginary scenarios. If participants received the results of genome sequencing in a real-life situation, their choices may have been different.
Future studies should include diverse groups of young women that assess role preference in real clinical and research settings.
What This Means for You
How much of a role you want in decisions about your health care is a very personal decision and it’s important that providers respect your choices. You may feel best following the lead of a healthcare team you trust, you may want to get more information and discuss all the options. If your healthcare provider has not spoken about your involvement in making decisions about your care, let them know how you feel. Be honest about your preferences and expectations. If your provider can’t work with your preferences, it is OK to find another doctor who will.
Know that changing your mind about your preferred role is perfectly acceptable. Your role preference in the decision-making process may change based on what is being decided.
Masten, C.B., Lyons, S., Goodman, M.S., Biesecker, B.B., & Kapingst, K.A. (2019). Decision role preferences for return of results from genome sequencing amongst young breast cancer patients. Patient Education and Counseling, 102(1):155-161. doi: 10.1016/j.pec.2018.08.004