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Table 1 Needs expressed by stakeholders regarding the implementation of carrier screening, related to culture, structure, practice

From: Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

 

Theme

Needs

Illustrative quotes

Culture

Desirability

Clarification about the, “who, and what” of screening

• Who

• What

“Well, I think it should be available for people belonging to a risk population like for example those Afro-Caribbean people who have a chance of 1-in-7 to be a carrier of sickle cell disease.” (#1, healthcare professional)

“I think [criteria to include disorders] is a trade-off that you should determine together, and by ‘together’, I’m afraid, I mean more people than just the geneticists.” (#13, healthcare professional)

 

Learning from existing niches

• Insight in the demand for screening

• Demand

“I think it’s necessary to take some initiative [regarding screening]. […] Those small initiatives very often have a huge impact on the availability of such test offers.” (#5, scientist/researcher)

“Look, it’s not a demand coming from the population itself, but it is all initiated by professionals emphasising freedom of choice. […] If there is some sense of urgency among the public, yeah that changes the situation.”(#16, healthcare professional)

Prioritisation

Different mind-set regarding the role of carrier screening

• ‘Lobby’ to put carrier screening on the (political/professional) agenda, by:

• Patient organisations

• Healthcare professionals

• Public

“Well, and patient organisations need to be more active here. Some sort of lobby to put carrier screening on the political agenda.” (#6, healthcare professional)

“So if we indeed reason from the field’s point of view, I think the first step will then be: talking to midwives via the branch organisation in order to get it on the agenda.” (#7, scientist/researcher)

“But the Minister will decide whether it will happen or not. And who can address that? Well, that could be the women themselves, as that was also partly the case with prenatal screening.” (#15, healthcare professional)

Structure

Infrastructure

Organising preconception care

“First you should have some kind of [preconception care] facility before launching a website and newspaper articles, and God knows what. People should be able to go somewhere. That should be arranged first.” (#6, healthcare professional)

Organising an offer by several providers at different moments in time

“I can also imagine that it’s not necessarily offered by only one person. If someone visits the general practitioner, he/she can do it, if someone visits the midwife, then he/she can do it as well. […] I would also be OK with the youth healthcare physicians offering it. If we can embed carrier screening there and they can counsel mothers while visiting the child health centre, that’s fine with me!” (#2, scientist/researcher)

“I see a role for the youth healthcare physicians there [interconception care]. […] You can ask about the needs or the thoughts about having more children […] and you can inform about the possibilities of having tests.” (#11, representative of a Dutch institution)

Guidelines

Adequate and accessible guidelines

“I think that the guidelines should include information about who is doing what (providing information), and what will happen when someone is found to be a carrier. I think that really should be clarified.” (#10, scientist/researcher)

Financial structures

Clarification about reimbursement and costs

• Set a financial compensation for health professionals

• Ensuring equity of access

“Preconception care: that’s not working properly. […] There is no financial compensation. […]. We do have a preconception care guideline for general practitioners, […] but if you want that to work, you must first ensure that there is a rate, otherwise, you cannot implement it.” (#16, healthcare professional)

“Autonomy is only possible if people have a choice. As soon as you say: ‘For 500 euros, you can have screening’, you already raise a barrier. So that should be something that is paid for from public funds, like the heel prick.” (#6, healthcare professional)

Counselling

Practical tools for professionals

“It would be very helpful to have some kind of a practical tool or, if necessary, a website with concise and reliable information.” (#1, healthcare professional)

Focus on non-directive counselling

“Considering the frameworks of non-directively offering carrier screening, parents-to-be should at least be informed about it [carrier screening], and should be asked whether they want to receive more information about the possibilities. […] This kind of information is different from informing someone about a healthy eating behaviour, quitting smoking and drinking when considering having children.” (#4, representative of a patient organisation)

Training and education

Organising training for professionals

“They [professionals offering carrier screening] should be educated. […] It’s very complex, genetics. That’s something you should master in order to be able to provide information correctly.” (#11,representative of a Dutch institution)

Developing accessible information for the public

“It’s really important to develop proper information for the public, and well, you should also take into account illiteracy.” (#13, healthcare professional)

Practice

Demand for carrier testing

Individual request in daily practice

“When people ask for it [carrier testing], I would certainly want to offer it, we should do it then. It doesn’t depend on me whether we are going to offer it or not.” (#1, healthcare professional)

Knowledge on consequences of knowing carrier status

“I wonder if we know enough about the consequences of knowing.[…] Look, we know too little about the effects of carrier screening, and how parents feel about it afterwards. So yeah, I would recommend doing research on that”. (#11, representative of a Dutch institution)

Responsibility

Division of responsibility/ownership

“Well, at this moment, no one is responsible, or at least, no one has taken that responsibility.” (#4, representative of a patient organisation)

“It [the responsibility] should be left with the field, but you do need someone taking the lead.” (#8, representative of a patient organisation)