A Semi-Structured Interview

Online Resource 2

Title: Acceptability of, and information needs regarding, next-generation sequencing in people tested for hereditary cancer: A qualitative study

Journal: Journal of Genetic Counseling

Authors: Meiser B, Storey B, Quinn V, Rahman B, Andrews L

Affiliation and e-mail address of corresponding author: Bettina Meiser, Psychosocial Research Group, Prince of Wales Clinical School, Lowy Cancer Research Building, C25, Level 4, University of New South Wales Hospital, Sydney, NSW 2052, Australia. E-mail:

Semi-structured interview guide:

Attitudes regarding genomictesting of people affected with hereditary cancers

Introductory script

Thank participant for agreeing to take part in this study.
Introduce the study and briefly discuss its purpose.
Check whether participant has read the one-page information sheet entitled ‘Genomic Testing’. If not, offer to call back shortly to give them the opportunity to read it before the interview.
Discuss the role of the interviewer: to raise topics for discussion and then to listen as the participant shares their views and experiences.
Reassure the participant that they are free to talk about any of their concerns or attitudes. There are no right or wrong or even typical answers to any of the questions that will be discussed.
Remind the participant that, with their permission, the interview will be audio-taped.
Reassure confidentiality and the participant’s right to stop the interview at any time.
Clarify that the interview will take approximately 45 minutes to 1 hour.
Ask whether the participant has any questions before we begin.

Understanding

Had you heard of genomic testing, also called next generation genetic testing, before reading the information sheet and/or hearing about this study?
Based on your reading, can you tell me in your own words how you think this testing is different to our current genetic testing?

As you have read, genomic testing enables the laboratory to examine many genes at the same time, much more rapidly than standard testing, and at much less cost.

This new technology can be used in 2 ways – panel testing and genome testing.

Acceptance of panel testing and associated information needs

Let’s first talk aboutpanel testing. This is testing which looks at up to 40 known cancer related genes at once.These genes are related to many different kinds of cancer (not just the types in you or your family)as well as certain benign tumours.

What do you feel are the advantages and disadvantages of panel testing? (Probes: Do you think that you would personally benefit from having panel testing?)

Would you be interested in having panel testing?

We are also interested to know which types of results you would like to know about if you were to have panel testing.

Would you want to know about a result only if the gene fault was related to your previous diagnosis of cancer?
Would you want to know about a result if the gene fault was associated with an increased risk of cancer, but was not related to the cancer/tumour you have had?

Would you want to know about a result only if there were proven methods to detect the cancers early or ways of prevent them? (Probes: Would you want to know about a result even if there were no proven methods to detect the cancers early or ways of prevent them?)
What if a gene fault was found, but it was unknown what this gene fault means, and how it was related to your cancer diagnosis and future cancer risk?
How would you feel about that if the doctors were only giving results that were very definite, and did not pass on any information that was of uncertain significance?

______

Acceptance of genomic testing and associated information needs

The second type of testing we will talk about is called genome testing. This is testing that looks at ALL our genesat once, not just previously known genes. This testing could identify faults in genes associated with all kinds of different traits, including susceptibility to many different kinds of kinds of disease, not just cancer.

What do you feel are the advantages and disadvantages of genomic testing? (Probes: Do you think that you would personally benefit from having panel testing?)

Would you be interested in having genomic testing?

We are also interested to know which types of results you would like to know about if you were to have genomic testing.

Would you want to receive results of a gene fault that causes an increased risk of a medical condition, but it is not related to cancer?
What if there were no proven methods to prevent, diagnose and treat the condition? For example you find out you are at increased risk for developing Alzheimer’s disease.
What about gene faults where the impact is currently unknown?
How would you feel about that if the doctors were only giving results that were very definite, and did not pass on any information that was of uncertain significance?
Some people may only want to know about results that are relevant to their cancer, and not want to know about other medical findings that may arise. How would you feel if genomic testing was only available if you agreed to receive all results of medical significance- even those unrelated to cancer.
How much choice if any would you want in terms of deciding which results to receive from genome testing?

______

Preferences for information content and format

I’d now like to ask you about what information you would like to be given before deciding about panel and/or genomic testing.

What information would be important for you to have before deciding to have panel testing?
(Probes: implications for future cancer risk, implications for other family members, life insurance, current/future employment, understanding complex results)
In the future, most likely a health professional such as a genetics practitioner will discuss the option of panel testing with patients such as yourself in person. Do you think it would be helpful to receive additional information regarding panel testing? If yes, how would you like to receive information about panel/genomic testing? (Probes: Information leaflet, longer booklet that includes decision making aids such as visual displays, graphs, personal stories of patients who considered genomic testing etc, question prompt sheet, information video, Internet etc)

Now we would like to get your opinions on a particular model developed by scientists working in this area to help patients and clinicians with decision making about which findings to learn about. Can I please ask that you open the enclosed envelope marked ‘Do not open until the end of interview’, and have a look at the table?

(Interviewer now to talk participants through table including examples and get feedback on each component of model.)

Do you agree or disagree with this model?
Which aspects of the model do you agree with?
Which aspects of the model do you disagree with?

When do you feel informed consent should be thought from patients retarding which types of results they wish to learn about prior to testing that is when completing the consent form they will be given when blood is taken for testing?
Within the ‘Possible medical benefits category’ should patients be given a choice over which subcategory results they wish to learn? For example some people may wish to learn about diseases impact on reproduction but not diseases in the other two categories?

______

Research and data banking

As this is a rapidly developing field, gene changes of unknown significance now might be found to be important in the future.
If you were to have genomic testing, how would you feel about your results being stored and being reviewed periodically?
What if the testing was analysed and stored overseas?
How would you feel about your genomic results being used for research, for example in trying to identify new genes?

Interview debriefing and closure script

Thank the participant for sharing her experiences.
Ask how the participant felt taking part in the interview.
Do they still have the free-call study telephone number in case they would like to contact the research team in the future?
Would the participant like to receive a free summary sheet about the results at the end of the study?
Would they like to arrange a time to talk with a member of the research team about anything further?

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