The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study

Kelly Reumkens,Cora M Aalfs,Charlotte J Dommering,Joyce J G Gietel-Habets,Margriet Collée,Vivianne C G Tjan-Heijnen,Lizet E Van Der Kolk,Jan C Oosterwijk,Trudy Van Der Weijden,Marly H E Tummers,Sander M J Van Kuijk,Christine E M De Die-Smulders,Margreet G E M Ausems,Christi J Van Asperen,C Marleen Kets,Liesbeth A D M Van Osch

doi:10.1007/s10689-018-0092-4

Abstract

An online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making was developed. A two-phase usability test was conducted among 12 couples (N = 22; 2 persons participated without their partner) at risk for hereditary cancer and 15 health care providers. Couples and health care providers expressed similar suggestions for improvements, and evaluated the modified decision aid as acceptable, easy to use, and comprehensible. The final decision aid was pilot tested (N = 16) with paired sample t tests comparing main outcomes (decisional conflict, knowledge, realistic expectations regarding the reproductive options and decision self-efficacy) before (T0), immediately (T1) and 2 weeks after (T2) use of the decision aid. Pilot testing indicated decreased decisional conflict scores, increased knowledge, and improved realistic expectations regarding the reproductive options, at T1 and T2. No effect was found for couples’ decision self-efficacy. The positive findings during usability testing were thus reflected in the pilot study. The decision aid will be further evaluated in a nationwide pretest–posttest study to facilitate implementation in the onco-genetic counselling setting. Ultimately, it is expected that the decision aid will enable end-users to make an informed decision.

Highlights

A predisposition for hereditary cancer is usually autosomal dominant, implying that there is a 50% risk of transmitting the mutation to offspring
Couples with a predisposition for hereditary cancer who want a genetically related child can opt for natural conception without genetic testing, accepting the risk of passing on the predisposition for cancer to a child, or they could opt for prenatal diagnosis (PND) assuming the intention to terminate the pregnancy if the fetus has the mutation [7], or for preimplantation genetic diagnosis (PGD), to prevent transmission of the mutation to their offspring
We report on the results of the usability testing and the preliminary results regarding the effectiveness of the decision aid, generates during beta testing by means of a pilot study [19]

Summary

Introduction

A predisposition for hereditary cancer is usually autosomal dominant, implying that there is a 50% risk of transmitting the mutation to offspring. For the relatively frequent breast cancer gene mutations in BRCA1 or BRCA2 this implies risks of 27–57% and 6–40% of developing breast respectively ovarian cancer by the age of 70 [1, 2]. This knowledge may evoke challenging reproductive decision-making processes among persons having a genetic predisposition to cancer and their partners [3,4,5,6]. Awareness of PGD (66%) and PND (61%) are similar, the acceptability of PGD (80%) is notably higher compared to PND (26%) [10]

Methods

Results

Conclusion