Your Experiences Talking to Family Members About the Inherited Mutation in Your Family: Results from the ABOUT Network Family Communication Survey

by Lisa Rezende, PhD

The ABOUT network conducts surveys suggested by patients on issues that affect the hereditary cancer community. These surveys are meant to identify important gaps in evidence and prioritize where further research is needed. Hereditary cancer by definition affects families: a person who has an inherited mutation in a gene that increases cancer risk has a 50/50 chance of passing it down to their sons or daughters. Knowing that you have a mutation in BRCA or other gene that increases cancer risk provides the opportunity to take risk-reducing steps, such as medications or surgeries. When people find out that they have inherited a genetic mutation that increases cancer risk, it is natural for them to want to tell adult members of their immediate and extended family, who might also be at risk. However, we know that some people have trouble reaching out to family members.

In this survey, we asked members of the hereditary cancer community what factors influenced their decisions about communicating cancer risk to family members, which family members they told about the mutation in their family, what resources they found useful in talking about cancer risk, and how many family members were tested. This survey focused on blood relatives over the age of 18, because offering genetic counseling and testing to adult at-risk relatives is recommended. Communicating cancer risk with children and teenagers presents additional issues that were not addressed in this survey.

Who responded?

We heard from 350 members of our community who had undergone genetic testing for mutations in BRCA1, BRCA2, or other genes that increase cancer risk. The majority had genetic counseling, with:

40% reporting they had genetic counseling before and after testing
32% reporting they had genetic counseling only before genetic testing
17% reporting they had genetic counseling only after genetic testing
11% reporting they did not undergo genetic counseling

Most of the people who responded have a mutation that increases cancer risk:

47% have a BRCA1 mutation.
41% have a BRCA2 mutation.
5% were negative for BRCA1 or BRCA2 mutations and have not had further testing.
4% were told they had a variant of uncertain significance (VUS) in one or more genes that increase cancer risk.
1% have a mutation in PALB2.
1% have a mutation in ATM.
5 people have a mutation in other genes that increase cancer risk. (One person has a mutation in each of the RAD50, BARD1, CHEK2, and PTEN genes. One person also has a mutation in APC, a gene associated with colon cancer.)

Fewer people have mutations in genes other than BRCA1 and BRCA2, which reflects that regular testing for mutations in these genes has only become common in the past few years.

How did our respondents find out about the mutation in their families?

We began the survey by asking how respondents found out about the mutations in their families, beginning with finding out who the first person in the family was to undergo genetic testing for cancer risk. Interestingly, survey responses showed that the respondent was the first person in the family to test, followed by female relatives. Specifically, respondents reported the following regarding the first person in the family to have genetic testing:

48%: the respondent was the first in their family to undergo genetic testing
15%: their mother
12%: their sister
10%: an aunt
8%: a female cousin
2%: their grandmother
1%: their niece
1%: their father
1%: their uncle
Less than 1%: their son

To better understand how families communicate about cancer risk, we asked those who were not the first to test to identify who initially told them about the mutation in their family. Respondents reported the following regarding who first told them:

28%: their mother
21%: their sister
13%: a female cousin
11%: an aunt
8%: their father
2%: their daughter
2%: their niece
1%: their grandmother
The remainder either could not recall or were told by a different relative (son, uncle, etc.)

Next, we asked how respondents were told about the mutation in their family. Most (47%) were told by phone or in person (31%). Other ways included email (9%) and letters (4%), with a few respondents reporting that they were told by text message, Facebook messenger, or that they were present at the genetic counseling appointment when their family member found out about their mutation. In some cases, the information came too late,

“I was already diagnosed w/breast cancer. A cousin calling to wish me luck w/my mastectomy casually mentioned the fact that many people in our family carry (a mutation in) the BRCA2 gene.”

Most people (81%) were satisfied with the way they found out about the mutation in their family, with a number of commenters noting that they already knew there was a lot of cancer in the family before anyone tested. One commenter summed it up:

“I knew we were high risk for cancer.”

Most respondents shared their results with multiple family members

We asked respondents to estimate the number of male and female family members with whom they shared their results. While respondents shared genetic test results with both male and female relatives, there was a reported tendency to share with more adult female relatives than adult male relatives:

18% of respondents shared results with 6 or more male relatives, while 36% shared with 6 or more female relatives.
35% of respondents shared results with 3-5 male relatives, while 37% of respondents shared results with 3-5 female relatives.
Notably, 10% of respondents did not share their test results with any male relatives, while only 3% did not share results with any female relatives.

Most respondents report that at least one family member they informed has undergone testing

We then asked how many blood relatives who were informed of the mutation in their family had undergone genetic testing: 70% of respondents reported that at least one blood relative had undergone genetic testing, 22% said none of the relatives they informed had undergone testing, while 7% did not know.

Again, we saw that far more female relatives had undergone testing than male relatives.

Only 2% of respondents said that more than 6 male relatives had undergone testing, while 10% of respondents said that more than 6 female relatives had undergone testing.
Even more striking: 41% of respondents said none of their male relatives had undergone testing, while only 4% of respondents said none of their female relatives had undergone testing.

Of course these are estimates, and it is possible that more or fewer people had undergone testing. However, the striking difference points to the need for more research into how men make decisions about genetic counseling and testing when they are informed of inherited cancer risk. For example, the extent to which men are motivated to pursue genetic counseling and testing for the benefit of others (e.g., daughters) versus their own health.

Experiences sharing information with family vary widely

We asked respondents how satisfied they were sharing genetic information with family members: most (79%) said that they were very or somewhat satisfied, but 20% said that they were somewhat or very dissatisfied. Comments included:

“My family was surprisingly unsupportive.”

“The relatives at risk have so far declined to be tested and don't want to discuss the matter at all. Not at all what I expected.”

Resources that help in sharing genetic information with family members

About two-thirds of respondents report receiving one or more resources for sharing genetic information with family members, including:

material from the testing laboratory: 32%
information about organizations that serve people with hereditary cancer: 32%
brochure or other printed material: 29%
template letter for family members: 18%
other resources: 8% (including inviting family members to the appointment, planning for communicating with family members, and recommendations from a book)

The majority (58%) of respondents reported that their genetic counselor provided them with resources to share information, while other healthcare providers (13%) and the laboratory that performed the test (9%) were less frequently reported.

When we asked if respondents felt they had adequate resources to communicate genetic test results with family members, most (69%) said yes, but almost a third (18%) felt that they did not, or were unsure (13%). When asked about the types of resources that would help, respondents chose:

print information: 65%
internet information: 66%
webinars: 21%
sample letter to family members: 45%
resources to help locate family members: 17%
resources to help my family member find a genetics expert: 39%

In some cases, the bigger issue is more a matter of identifying the correct family members, as one respondent noted:

“I'm good on what to share and how… It's just hard figuring out which ones to share with so I'm not alarming a huge amount of people for no good reason.”

Reasons to not share information

About half (48%) of respondents report not sharing genetic information with at least one blood relative. Reasons for not sharing information include:

not in contact with blood relatives: 50%
relative is under age 18: 33%
honoring the wishes of the blood relative’s parent or other close family member: 18%
did not think the relative would want to know: 12%
did not think to contact some family members: 11%
did not think it was their place to tell that relative: 11%
lack of resources to share the information: 10%
desire to keep the results private: 8%

In the survey comments, respondents also mentioned other reasons, such as they only tested recently, they are working up the courage to reach out, and they aren’t sure which side of the family the mutation came from. In some cases, not sharing information with family members results from a combination of many factors:

“My mother was the main communicator in our family, and she passed away from breast cancer...I have maintained a minimal level of contact with her relatives. It is challenging to know how best to tell someone about my results, and very weird to think about talking about my ovaries and my breasts with my uncles….”

Next steps

The ABOUT network uses results from engagement surveys to identify and prioritize research needs. This survey identified a need to improve strategies and resources that allow individuals with a mutation to provide high quality information to relatives to help them understand cancer risk. While many genetic counselors are helping people communicate with family, a large minority of respondents still struggle with discussing risk with relatives.

posted 08/17/16