1.1. Background on PGD
Preimplantation genetic diagnosis (PGD), a form of assisted reproductive technology (ART), is a medical procedure that allows couples to choose which fertilized embryos, created through in vitro
fertilization (IVF) and tested for genetic disorders, are implanted into a woman’s uterus for further gestation, with the intent that the pregnancy will result in a healthy child, free of the tested genetic diseases [1
]. PGD was first pioneered in 1968 and was successfully used in the 1990s as an ART tool for parents who feared that they would pass on a serious and/or life threatening genetic condition to their children such as cystic fibrosis, Fragile X syndrome, Down syndrome, Huntington’s disease, and sickle-cell anemia [1
]. Since then, PGD has been used to identify over 200 conditions, and over 20,000 cases of PGD use have been reported in the U.S. [4
]. PGD may be beneficial for individuals who have a family history of cancer and are concerned about passing on this genetic risk to their offspring [5
]. PGD has been used to identify cancer predispositions in 22 common inherited cancer syndromes including breast cancer (BRCA1
), Gorlin syndrome, tuberous sclerosis, familial colorectal cancer, and retinoblastoma [6
As genetic counseling and testing are becoming regularly used by individuals who are affected by or at risk for hereditary diseases, a growing number of women are considering the implications of this risk on childbearing decisions [8
]. PGD provides a safer alternative to prenatal diagnoses and in some cases, has been reported to be less stressful [9
]. Prenatal testing such as amniocentesis and CVS is often described as an invasive and risky procedure (e.g., risk of miscarriage) and may lead to a decision regarding pregnancy termination, as the fetus is tested for genetic disorders while in utero. In comparison, PGD offers the option for testing in vitro
embryos and implanting those without the genetic mutation of concern. Additionally, IVF embryo creation offers other benefits such as significantly improved implantation, lower spontaneous abortion rates and more successful and healthier births [10
1.2. Patient and Family Attitudes toward PGD
Individuals who are at increased genetic risk for cancer are often worried about their chances of passing the disease to their offspring, which can significantly affect their reproduction decisions [13
]. The factors affecting their beliefs and attitudes towards reproductive genetic technologies (RGTs) are complex. For example, Kalfoglou, et al.
] found that six key factors determined the appropriateness of RGTs in assisting with reproduction. These factors included whether the embryos would be destroyed, the nature of the disease or trait being avoided or sought, technological control over “natural” reproduction, the value of suffering, disability, and diversity, the importance of having genetically related children, and the type of future people desire or fear. Furthermore, genetic and reproductive history such as type of genetic condition, past pregnancy terminations, and previous miscarriages may impact the acceptability of PGD over other methods [15
Due to the complex issues surrounding PGD, patient and family attitudes toward PGD have been mixed, with participants in some studies reporting that they would not consider using PGD [16
] while other studies reported more receptive responses [17
], especially in participants who carry a familial genetic risk such as cancer or have been diagnosed with cancer [19
]. Interestingly, some women were in favor of PGD for others but would not consider it themselves [20
]. In a recent study, Quinn, Vadaparampil, Wilson, King, Choi, Miree and Friedman [16
] found that the main perceived worry about PGD among participants was that it could be used for the wrong purposes, “too much like playing God”, and that most people would not be able to afford it. These participants also reported that the main perceived benefit of PGD was an improved chance that the child would be free of the familial genetic mutation and that certain genetic diseases could be wiped out forever. That study highlights the conflicting opinions that consumers may have when considering PGD.
The medical process of PGD has been described as a stressful and emotional experience by women, fraught with feelings of hope, disappointment, anxiety, and depression which may result from having to endure multiple embryo transfers, IVF cycles, and pregnancy testing [9
]. However, many women with a high risk of hereditary cancer have expressed their perceptions that PGD is an acceptable option for themselves as well as other high-risk individuals, and that it is good ethical practice to inform women/couples of this option [16
]. PGD has been viewed as more ethically acceptable than prenatal diagnoses by some users and their families because the genetic testing and manipulation of the embryo occurs outside of the uterus and an embryo that is not implanted is usually not considered to be a terminated pregnancy, which can result in physical and/or emotional trauma for the families [23
Consumers have identified several advantages and disadvantages associated with PGD [15
]. Advantages include reduced risk of passing on a genetic disease to offspring, reducing the chance of pregnancy terminations and miscarriages, and avoidance of emotional stress associated with waiting to know or having a child with a genetic disease. Disadvantages include moral dilemmas surrounding the idea of a “designer baby” or what to do with additional embryos, risk of misdiagnosis, costs, potential damage to the embryo, failure to conceive, and the physical and emotional burdens of IVF. A systematic and narrative literature review of PGD revealed that although patients and their families generally have positive attitudes toward PGD, their views of PGD for themselves and others are often conflicting, especially regarding their intentions and their actual decision to use PGD [15
1.3. Nurses Involvement with PGD
Often a controversial topic of discussion, PGD has invoked varying opinions among health care professionals, potential consumers, and families [28
]. Findings indicate PGD is generally accepted among professionals to avoid life-threatening genetic diseases but not to select for socially desirable traits or non-medical sex selection [26
]. While studies of physicians and genetic counselors’ attitudes towards PGD have been explored [30
], there has been little research on nurses’ knowledge and educational needs regarding this topic. Nurses are in an ideal position to inform patients and consumers about health-related quality of life options and provide information that aids in health-related decision-making.
Nurses may be involved with the PGD process by relaying PGD information to patients and providing support to patients who are interested and/or involved in these procedures. Consequently, their opinions and beliefs about PGD may affect what and how much information they give to their patients, which may in turn affect their patients’ reproductive decisions.