Family planning: better support decision-making in couples with rare hereditary diseases

principal investigators

Marie-Eve Poitras,

Karine Tremblay,

Luigi Bouchard,

Melissa Lavoie

Funding

$ 5,000

Help group for tyrosinemic children in Quebec

Start-up funds

study setting

Saguenay-Lac-Saint-Jean

Quebec

Montreal

themes

Decision support tool, Tyrosinemia, Ataxia-Charlevoix-Saguenay, Genetic counseling, Family planning

Couple

Why?

 

For couples with a genetic disease, the decision-making process in a preconception or prenatal context, in the event of a genetically transmitted disease, can be a source of both uncertainty and discomfort. To make an informed decision, they need to be properly informed about their options, know enough about the disease, and know what is most important to them.


When a difficult and uncertain decision needs to be made, stakeholders can use a Decision Support Tool (DAO) to illustrate the options and scientific evidence to the couple. When used between a worker and a person, ADOs allow:

1) An improvement in knowledge and the feeling of having been well informed

2) An improvement in the active participation of individuals in decision-making

3) Establishing more realistic expectations

4) An increase in decision-making comfort over time

5) A better balance between the choice that is made and the values of the person

What are our goals?

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1) Identify the needs during decision-making for couples carrying hereditary tyrosinemia type 1, congenital lactic acidosis, recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and sensory motor neuropathy with or without agenesis of the corpus callosum

2) Identify the available sources of information and the approaches recommended by clinicians who support carrier couples in making their decision

3) Develop an ADO for tyrosinemia and ARSACS according to the Ottawa Decision Support Model (MADO)

4) Measure the acceptability of ADOs according to users (carrier couples and health professionals involved in the decision-making process)

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How? 'Or' What?

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Our project is based on MADO, User-centered design, shared decision-making and the International Patient Decision Aids Standards.

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In order to carry out the project, we used:

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1) Individual interviews with carrier couples and health professionals

2) Sociodemographic data questionnaires

3) Assessment questionnaires for the decision support tool

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We then proceeded to codify the interviews according to the following themes:

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  • Reaction to the announcement of carrier status

  • Level of knowledge of the disease for which the person has received carrier status

  • Level of knowledge of different family planning options

  • Factors that facilitate the decision

  • Factors that make the decision difficult

  • Sources of information used

  • Significant people in these decision-making

  • Personal role desired in making decisions for oneself and for significant people

  • Role of genetic counselors in the decision

  • Preferred format and content for the decision support tool

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What results have we obtained?

So far, we have met 39 carriers as well as 12 health professionals and stakeholders. These interviews enabled us to make the following observations:

1. Individuals' needs vary from person to person depending on their values, preferences and available resources.

2. The decision may vary over time

3. Couples with recessive spastic Charlevoix-Saguenay ataxia and type 1 hereditary tyrosinemia have a greater need for decision support.

4. The timing of couples receiving the information is critical

5 Family planning choices could be better discussed

6. Psychological support would be appreciated for some

7. Many couples think that an ADO would help their thinking

8. Adequate support and training about the disease and options for healthcare professionals would be relevant in some cases.

The assessment of the assessment of the decision support tool for ARSACS highlighted the following essential elements to consider:

  • Limit the amount of information as much as possible

  • Use simple vocabulary and speak directly to the couple

  • Have a section in the OAD for women and another for men

  • Facilitate the use of the tool by clinicians

  • Have an attractive visual

TESTIMONIALS

Carrier woman

of ARSACS

It's hard because I know my sister is really against abortion and then she would never have an abortion. But you know, she's easy to tell in the sense that she doesn't see it. (…) It's a bit tricky.

Homme qui pense

Man with tyrosinemia

that's it, it's important to have a decision as well informed as possible then ... then to make sure that we both agree on the same decision it doesn't matter because it's our child to us.

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Woman with tyrosinemia

“Doctors are not all aware of that too (…) he told me: 'you know there are non-carrier donors”. I was lying in the recovery room for this information, I was like "it doesn't make sense to tell myself that at that moment". He said to me: "that would make beautiful healthy little ones". He ended it like that "

Publications

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(SUBMITTED) Frigon, MP Emond, MJ * Lavoie, M Bouchard, L Poitras, ME Tremblay, K. (2020). Family Planning Decisional Needs Assessment for Recessive Hereditary Disorders: Insights from Carrier Couples and Professionals. Journal of Genetic Counseling.

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