Help group for tyrosinemic children in Quebec
Decision support tool, Tyrosinemia, Ataxia-Charlevoix-Saguenay, Genetic counseling, Family planning
Family planning: better support
decision making in couples with
rare hereditary diseases
For couples carrying 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 uncertainty and discomfort. To make an informed decision, they must be adequately informed about their options, know enough about the disease, and know what is most important to them.
When a difficult decision tinged with uncertainties must be made, the workers can use a decision support tool (DST) to illustrate the options and the scientific evidence to the couple. When used between a responder and a person, ADOs allow:
1) Improved knowledge and 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?
1) Identify the needs when making decisions for couples with hereditary tyrosinemia type 1, congenital lactic acidosis, recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and sensorimotor neuropathy with or without agenesis of the corpus callosum
2) Identify the sources of information available and the approaches advocated by clinicians who support carrier couples in their decision
3) Develop an OAD for tyrosinemia and ARSACS according to the Decision Support Model of Ottawa (MADO)
4) Measure the acceptability of OADs according to users (carrying couples and health professionals involved in the decision-making process)
Our project is based on MADO, user-centered design, shared decision making and the International Patient Decision Aids Standards.
In order to carry out the project, we used:
1) Individual interviews with carrier couples and health professionals
2) Sociodemographic data questionnaires
3) Decision support tool evaluation questionnaires
Then, we proceeded to the codification of the interviews according to the following themes:
Reaction to 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
Desired personal role in these decision-making for oneself and for significant people
Role of genetic counselors in the decision
Preferred format and content for the decision support tool
What results have we obtained?
So far, we have met 39 carriers as well as 12 health professionals and workers. These interviews enabled us to make the following observations:
1. The needs of individuals vary from person to person depending on their values, preferences and available resources
2. The decision may change over time
3. Couples with recessive spastic ataxia of Charlevoix-Saguenay and hereditary tyrosinemia type 1 have a greater need for decision support
4. Timing couples receive the information is key
5 Family planning choices could be better discussed
6. Psychological support would be appreciated for some
7. Many couples think an ADO would help their thinking
8. Adequate support and education about the disease and options for health professionals would be relevant in some cases.
The evaluation of the appreciation of the decision support tool for ARSACS has made it possible to highlight essential elements to consider:
Limit the amount of information as much as possible
Use simple vocabulary and address the couple directly
Have a section in the OAD for women and another for men
Facilitate the use of the tool by clinicians
Have an attractive visual
Marie-Josée Emond won the2nd prizefor thebetter poster communication,during the 22nd edition of the Colloquium of the master's degree in nursing sciences of the Network of the University of Quebec for the presentation of the results of his study project.
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.
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.
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 "
Frigon MP, Lavoie M, Emond MJ, Bouchard L, Poitras ME, Tremblay K. Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals. Patient Educ Couns. 2022 Jul;105(7):2537-2545. doi: 10.1016/j.pec.2021.11.027. Epub 2021 Nov 29. PMID: 34872805.