The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: Initial findings from a grounded theory study

Abstract

Exponential growth in genomics has led to public and private initiatives worldwide that have dramatically increased the number of procreative couples who are aware of their ability to transmit genetic disorders to their future children. Understanding how couples process the meaning of being genetically at-risk for their procreative life lags far behind the advances in genomic and reproductive sciences. Moreover, society, policy makers, and clinicians are not aware of the experiences and nuances involved when modern couples are faced with using Preimplantation Genetic Diagnosis (PGD). The purpose of this study was to discover the decision-making process of genetically at-risk couples as they decide whether to use PGD to prevent the transmission of known single-gene or sex-linked genetic disorders to their children. A qualitative, grounded theory design guided the study in which 22 couples (44 individual partners) from the USA, who were actively considering PGD, participated. Couples were recruited from June 2009 to May 2010 from the Internet and from a large PGD center and a patient newsletter. In-depth semi-structured interviews were completed with each individual partner within the couple dyad, separate from their respective partner. We discovered that couples move through four phases (Identify, Contemplate, Resolve, Engage) of a complex, dynamic, and iterative decision-making process where multiple, sequential decisions are made. In the Identify phase, couples acknowledge the meaning of their at-risk status. Parenthood and reproductive options are explored in the Contemplate phase, where 41% of couples remained for up to 36 months before moving into the Resolve phase. In Resolve, one of three decisions about PGD use is reached, including: Accepting, Declining, or Oscillating. Actualizing decisions occur in the Engage phase. Awareness of the decision-making process among genetically at-risk couples provides foundational work for understanding critical processes and aids in identifying important gaps for intervention and future research.

Introduction

The post-human genome sequencing era has led to a burgeoning number of modern couples who are aware of their procreative ability to transmit known genetic disorders to their future child(ren). The ever-increasing number of national and private genomic initiatives, such as general population preconception testing for cystic fibrosis (American College of Obstetricians and Gynecologists and the American College of Medical Genetics, 2001; Grody et al., 2001), and direct-to-consumer genetic testing initiatives (Ferreira-Gonzalez et al., 2008; Helgason & Stefánsson, 2010; McPherson, 2006), such as web-based Counsyl that will test procreative couples for more than 100 genetic disorders for about $350 U.S. dollars (Counsyl Inc., n.d.; Totty, September 27, 2010), accelerate the number of procreative couples who are aware of their increased risk to transmit inherited disorders that were unseen in prior generations.

Preimplantation genetic diagnosis (PGD) is a cutting-edge, genomically based reproductive testing option that has been available to a growing number of couples for the past two decades. To be expected, there has been a recent upswing in the use of PGD worldwide, particularly among couples seeking to prevent the transmission of known genetic disorders to their future child(ren) (Gutiérrez-Mateo et al., 2009; Harper et al., 2010; Rechitsky et al., 2009; Verlinsky et al., 2004). This increase in use has, in part, resulted in the formation of the first nationwide datasets monitoring PGD use by government and professional groups in the United States (Centers for Disease Control and Prevention, 2008; Ginsburg, Racowsky, Goldfarb, & Stern, 2010). Recently published data from the United States indicate about 5850 PGD procedures were completed nationally in 2009, (Centers for Disease Control and Prevention, 2011) with several private PGD centers reporting that cystic fibrosis, hemoglobin disorders, and muscular dystrophies are among the most common genetic disorders for which PGD is used (Rechitsky et al., 2009; Simpson, 2010).

While emerging datasets provide valuable threshold information about population-based trends, the science examining how couples become aware of and decide whether to use novel genomic biotechnology in the United States, such as PGD, lags far behind these and basic genomic advances, leaving couples with little or no decision-making support. Moreover, society, policy makers, and clinicians are left without understanding the experiences and nuances involved when modern couples are faced with the decision to use PGD (Hershberger & Pierce, 2010; Karatas, Strong et al., 2010; Klitzman, Appelbaum, Chung, & Sauer, 2008).

In the few studies that have examined aspects of decision-making surrounding PGD use, investigators worldwide have primarily targeted female partners (Farra et al., 2008; Hui et al., 2002; Karatas, Barlow-Stewart et al., 2010; Miedzybrodzka et al., 1993; Pergament, 1991; Quinn et al., 2009) or have used hypothetical or prospective scenarios (Chamayou et al., 1998; Hui et al., 2002; Kalfoglou et al., 2005; Krones et al., 2005). Other scholars have provided recommendations or opinions as to how genetically at-risk couples should act toward PGD (Cameron & Williamson, 2003; El-Toukhy, Williams, & Braude, 2008; Offit, Sagi, & Hurley, 2006; Watt, 2004; de Wert, 2005). While these studies and recommendations have provided insight, a tremendous gap remains in understanding how genetically at-risk couples make real-world decisions surrounding PGD use. The purpose of this article is to provide the first reported research-based theoretical model of the decision-making process of genetically at-risk couples who were considering PGD use or who had made a decision regarding PGD use within the past three months to prevent the transmission of known genetic disorders to their child(ren).