Public Expectations for Communicating Incidental Findings in Genetic Testing

Sandra Daack-Hirsch PhD, RNAssistant Professor

The University of Iowa College of Nursing

Acknowledgement• Co authors:

– Martha Driessnack1, Alyson Hanish1,2, Vanessa Johnson3, Christen Simon4, & Janet K. Williams1

• Research team– Nancy Downing1, Debra Brandt1, Laura Shinkunas4,

& Lisa Shah1

• Funding– NHGRI # RC1 HG005786, J.K. Williams & C. Simon,

Multiple PIs 1The University of Iowa College of Nursing, 2NIH Graduate Partnership Program (GPP), 3The University of Oklahoma College of Nursing,

4The University of Iowa College of Medicine

Background• Incidental findings (IF) are clinical or research results unrelated to

the reason or purpose for which a person is being tested.• Genome scanning technology has increased the potential for

incidental findings in genomic testing and research.

• Guidelines are beginning to emerge regarding disclosure of genomic IFs to patients and/or research participants.

• However little is known about the general public’s perspectives on disclosure issues and concerns related to genomic IFs.

Purpose

To explore issues and concerns about disclosure of GIFs in research and clinical settings from the perspective of diverse members of the public

Methods• Exploratory descriptive study

• We conducted focus groups and individual interviews with members of the public who represented a broad cross-section of demographic characteristics

• Sessions were audio-taped, transcribed verbatim, checked for accuracy, and analyzed using content analysis

Vignettes• Two vignettes

– Genomic clinical testing scenario – Genomic research scenario– An individual or a family member underwent a

genomic analysis for a specific reason and was found to be at risk for something other than what they were tested or studied for (an IF)

Vignettes• Series of open-ended questions changing the

nature of the IF to include: – high risk single gene disorders (e.g. BRCA)– increase risk for complex disorders (e.g. T2DM)– positive carrier status (e.g. CF)– disorders that varied in treatment and prevention

options (e.g. Alzheimer disease vs. T2DM)– misattributed paternity – variants of uncertain significance (VUS)

Group Name (n) Type of Interview Source Gender Age Range Education n(%)

African Americans (n=8)

Focus group Local church Bible study group

Male 8 (100)Female 0

26-61 <High School 0 High School 3 (37.5) 2 Year Degree 0 4 Year Degree 1 (12.5) >4 Year Degree 4 (50)

Clergy (n=4) Focus group Community ecumenical committee

Male 2 (50) Female 2 (50)

57-60 <High School 0 High School 0 2 Year Degree 0 4 Year Degree 0 >4 Year Degree 4 (100)

Elders (n=6) Focus group University center for aging

Male. 2 (33) Female 4 (67)

67-82 <High School 0 High School 0 2 Year Degree 0 4 Year Degree 2 (33) >4 Year Degree 4 (67)

Hispanic (n=7) Two focus groups Spanish speaking (n=5) English speaking (n=2)

Community based clinic

Male 0 Female 7 (100)

26-46 <High School 2 (29) High School 5 (71) 2 Year Degree 0 4 Year Degree 0 >4 Year Degree 0

Parents of hearing impaired children (n=3)

One focus group (n=2)One individual interview

State department of public health

Male 0 Female 3 (100)

26-39 <High School 0 High School 0 2 Year Degree 0 4 Year Degree 1 (33) >4 Year Degree 2 (67)

Parents whose children had CMA testing (CMA) (n=7)*

Individual interviews

University medical genetics department

Male 1 (14) Female 6 (86)

31-51 <High School 0 High School 4 (57) 2 Year Degree 1 (14) 4 Year Degree 1 (14) >4 Year Degree 0

Rural small community (n=10)

Focus group

Volunteer fire department

Male 0 Female 8 (100)

26-57 <High School 0 High School 1 (10) 2 Year Degree 8 (80) 4 Year Degree 1 (10) >4 Year Degree 0

Support group (n=9) Focus group

Recovery support group

Male 3 (I33)Female 6 (67)

21-60 <High School 0 High School 5 (56) 2 Year Degree 1 (11) 4 Year Degree 3 (33) >4 Year Degree 0

Young to middle aged adults (n=9)

One focus group (n=8) One individual interview

Community college Male 6 (67) Female 3 (33)

21-49 <High School 0 High School 3 (33) 2 Year Degree 3 (33) 4 Year Degree 2 (22) >4 Year Degree 1 (11)

N=63

9 focus groups9 individual interviews

18(29%) males

45(71%) females

Age range 21-82yrs

21(33%) Minority representation

Results• Three (3) major topical categories:

–Knowing about IFs–How we want to be told–Managing IF information

Knowing about IFs

• We want to know about IFs– Prevention– Treatment & early intervention– Personal utility

• Life plans (e.g. retirement, career/school, & reproduction• Get your affairs in order• Explanation for why things happened

I want to knowWell you might not be able to prevent [a disease], but you might be able to work on minimizing the effects of it—slow it down.

I guess [a variant associate with an increase in risk] is a life altering thing even though something is not definite it still changes the way you live your life

Knowing about IFs• Others may not want to know

• Issues that influenced participant’s desire to know– Seriousness of the associated disease or trait– Insurance– Worry and anxiety– Certainty and reliability of the risk estimate

I would want to know, but I know that there are people

who don’t feel that way.

If [the result is] that I share the same genetics as a fish, then I don’t care. But if it’s cancer, then yes I

would like to know that.

Knowing about IFs• Worry/anxiety was viewed as trade off rather

than a overwhelming reason not to know and as temporary:

[I]t is another thing to worry about, but I think that worry kind of edges away the more prepared you are for the situation.

How we want to be told• Prepare people for the possibility of IFs prior to

testing in the form of patient education (clinical) and consent (research)

• Offer a choice for disclosure

It may be harder to communicate in a in a holistic way, what this means to you or what it might mean to you [the researcher does not know you].

Choices, people like choices.

How we want to be told• Personalize the interpretation of the IF beyond

its biological meaning• Information should come with a plan:

– What could be done next – How can the results be confirmed

[He or she should be able] to communicate in a in a holistic way, what

this means to you or what it might mean to

you …when they deliver it, are they just [going to] spit it out and its, appointment over? Or,

is there [going to be] be follow through?

Managing IF information• “We share responsibility”

– Obligation for the professional to disclose IFs– Personal responsibility to act or not act upon the

information

The researcher/clinician needs to put it out there, you know, hey, that this could happen, doesn’t mean

that it will, buts it’s there, you should know about it. How you choose to

react to the information is up to you.

I like to participate in my own health care

and not just be a passive recipient thereof, but also I want to take some

responsibility.

Conclusion• The potential for IFs is increasing with the use of

comprehensive genotyping associated with whole genome scanning.

• Nurse researchers and clinicians involved in genetic testing ought to plan, prior to testing, for how IFs will be communicated with care and compassion to patients/subjects.

• Communication should include informing patients’/subjects’ about the possibility of IFs and discussing the person’s expectations for disclosure.

Questions?