Table 2.

Spontaneously reported techniques used by genetic health professionals to facilitate disclosure about a hereditary condition within the family

Techniques or resources used by GHPs	Examples	Illustrative quote
Equip parents with terminology to discuss genetic risk with offspring in an age-appropriate manner	Be mindful of an individual’s cognitive capacity, emotional maturity and external factors before informing offspring. Use concepts that are easily understood by a particular age group. Children: Use basic concepts; brief explanations; be open about your medical appointments. Adolescence: casual conversations; allow for collaborative decision making. Young adults: provide details of genetic clinics; allow for autonomousdecision making.	‘Just briefly mention "In our family there is an increased cancer risk, [eg,] Aunty Stella has decided that she’s going to look after herself this way [prophylactic surgery]. But you’ve seen me I go to my screening every year and that’s what I do". If [parents] go for annual screening…don’t just hide that appointment or go when the children are at school so they don’t know, just be open about the fact, "Oh I’m off for my annual screening today”’ (FG9) 'Every family has certain health issues…this is just one thing that our particular family [has to do, for example, check-ups, etc]’ (FG9)
Educate and correct misconceptions	Emphasise the significance of genetic results for the families’ healthcare. Emphasis their right to know. Assess what information the patient has retained and capable of retelling others. When patients discuss reasons for not wanting to inform relatives gently question and explore their reasons; such questioning might reveal myths that can be dispelled.	‘[Patient’s come thinking there is] a pre-determined or that a concrete plan has been set in place of what [testing’s] going to mean for them’ (FG23) ‘[Some] people…[with] no breast cancer in the family…still can’t talk about it because, "We might all get breast cancer", even though no one has had breast cancer before… I don’t think they can talk about [a] gene mutation or the cancer because I think for many people there are very intimately associated’ (FG25)
Provide reassurance and encourage patients to ask their at-risk relatives to make contact with a genetic service	At-risk relatives can make contact or attend an appointment at the genetic clinic for information-gathering purposes and not only for genetic testing.	‘I say, "You don’t need to worry about giving them all the ins and outs of what it means and what it means for them, they can speak to the local genetics service"…so I reassure them that they’re not expected to be the expert for the family just to be the source of information about it' (FG9)
Assess motivation or reasons for disclosure	Patients may want their relatives to test and to relieve themselves of guilt; potential for relatives not to make autonomous decisions.	‘I think about what motivates someone to want to tell their family early and what motivates them to withhold information - [it] is really important' (FG3)
Hypothetical scenarios and benefit/cost of non-disclosure	Used when patients are reticent or actively non-disclosing to their at-risk relatives.	‘…try [to] think about the consequences of not disclosing to [your] daughter' (FG24)
Frame positively	Perceive genetic testing as helpful and beneficial in leading to risk reduction of cancer through screening and surgery.	‘I often say to people, "You don’t have any choice about what genes you pass on, but you do have a choice to share this information…this is something you can do…[that] you are in control of"'(FG4)
Normalise	Reassure that others commonly experience the same emotional responses and barriers. Provide examples of other families’ experiences and the strategies used to overcome similar barriers.	‘Everybody brings in a different attitude to this, from sort of incredibly pragmatic to incredibly emotional, and that must provide the way you deal with that information in your family. There’s no right or wrong it’s just how you’re wired to move forward' (FG4)
Alerting at-risk relatives by not disclosing the identity of a proband	At-risk relatives can be alerted about their cancer risk by informing them that they might be at risk of a condition without disclosing personal medical information.	‘[For example,] a woman does not want her family to know her [identity but wants them to know they are at risk, so making a] letter with de-identified information, which we can have them check [and write collaboratively with the patient] routinely' (FG19)
Identify another relative to disclose information to family members	Used particularly when the proband/patient is unable to disclose to relatives.	‘If they can delegate the task…get your brother who is in touch with all these people or cousin…give the job of disseminating information to somebody else and then that way the patient can concentrate on their own health’ (FG1)
Discuss ‘when’, ‘who’, ‘how’ they will disclose	Identify ideal timing (eg, casually, avoid anniversaries/major events), who is at risk and what modality to use to communicate to relatives (eg, face to face, letter, online).	‘Determined whether we know which side of the family the mutation is coming from’ (FG12)
Role play	Re-enact the discussion parents would have with their relative, provide the vocabulary, develop a plan and draw on how parents’ have disclosed difficult information in the past.	‘I often say, "You best have…a phrase or something you’re going to say that you feel is age-appropriate for your child"…you want to have a scenario whereby you can communicate something that feels safe for the child that is age-appropriate in terms of the language and you probably don’t want to minimise it or just brush it under the carpet. You want to try and be honest' (FG4)
Family letters	Helpful when proband/patient is unable to disclose to relatives or fearful of forgetting important information.	’The letter help[s] them to share it with their family and that kind of externalises it from them’ (FG21)
Follow-up phone calls/letters/appointments	Provided: (1) to clarify information provided by proband/patient, (2) when the relative is reaching an age when medical management is recommended (eg, screening at 30), (3) when proband/patient needs time to process information (cognitively, emotionally).	‘I say, "Make a plan…we’ll discuss it over dinner or when you are on a family outing and then I check in a few weeks later, did you do that? how did it go? is there any way you can think of doing it another way if you didn’t get opportunity to discuss it?"' (FG2)
Booklets, pamphlets, websites, factsheets	Provides information, techniques, vocabulary and examples of other families’ experiences.	Younger generation: ‘Anything online probably would be a great resource for that age group' (FG20) Older generation: ‘…I think if people are handing things to the family, they still want it as…a physical…[handout such as booklets]…’ (FG7)
Social media	Helpful if relatives are estranged, live overseas or have minimal contact.	‘They will say, "Oh, actually my relatives are overseas". It’s almost as though they’re not part of the family anymore, "They’re so distant from me"’ (FG4)

GHPs, genetic health professionals.