Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics.

INTRODUCTION: This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians' recommendations of risk management strategies to carriers of pathogenic variants in mismatch repair genes and the extent to which carriers took up strategies in concordance with guidelines. MATERIALS AND METHODS: Clinic files of 464 carriers (with and without colorectal cancer) were audited for carriers who received their genetic testing results in July 2008-July 2009 (i.e. before guideline release), July 2010-July 2011 and July 2012-July 2013 (both after guideline release) at 12 familial cancer clinics (FCCs) to ascertain the extent to which carriers were informed about risk management in accordance with guidelines. All carriers captured by the audit were invited to participate in interviews; 215 were interviewed to assess adherence to recommended risk management guidelines. RESULTS: The rates of documentation in clinic files increased significantly from pre- to post-guideline for only two out of eight risk management strategies. The strategies with the highest compliance of carriers post-guidelines were: uptake of one or two-yearly colonoscopy (87%), followed by hysterectomy to prevent endometrial cancer (68%), aspirin as risk-reducing medication (67%) and risk-reducing salpingo-oophorectomy (63%). Interrater reliability check for all guidelines showed excellent agreement (k statistics = 0.89). CONCLUSION: These results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.

Women's responses and understanding of polygenic breast cancer risk information.

It is estimated that polygenic factors can explain up to 18% of familial breast cancer. Clinical implementation of polygenic testing has begun, with several commercial laboratories now testing. Despite commercial implementation, there is little research investigating how women respond and understand polygenic risk information. This study aimed to explore women's experience receiving their personalised polygenic risk score (PRS) and compare responses of women at different levels of polygenic risk. Eligible participants were affected and unaffected women from families clinically assessed to be at high risk for breast cancer who had received their personalised PRS as part of the Variants in Practice Psychosocial Study (ViPPs). In-depth semi-structured interviews were conducted with 21 women (mean age 53.4 years) up to four weeks after receiving their PRS. Interviews were transcribed verbatim and analysed using thematic analysis. Eleven women received a PRS that was in the top quartile of PRS distribution and 10 in the lowest quartile. Women's lived experience with breast cancer informed how they responded to their PRS, constructed and made sense of breast cancer risk following receipt of their PRS, and integrated this new information into their breast cancer risk management. Regardless of polygenic risk level, all participants demonstrated broad knowledge of concepts related to polygenic information and were able to accurately describe the implications of their PRS. Receiving PRS did not appear to negatively impact women's reported distress levels. Our findings suggest polygenic breast cancer information is well received and understood by women at high-risk for breast cancer.

The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.

BACKGROUND: BRCA1/2 mutation status has increasing relevance for ovarian cancer treatments, making traditional coordination of genetic testing by genetic services unsustainable. Consequently alternative models of genetic testing have been developed to improve testing at the initial diagnosis for all eligible women. METHODS: A training module to enable mainstreamed genetic testing by oncology healthcare professionals was developed by genetic health professionals. Oncology healthcare professionals completed questionnaires before and 12 months post-training to assess perceived skills, competence and barriers to their coordinating genetic testing for women with high-grade non-mucinous epithelial ovarian cancer. Genetic health professionals were surveyed 12 months post-training to assess perceived barriers to implementation of mainstreaming. RESULTS: 185 oncology healthcare professionals were trained in 42 workshops at 35 Australasian hospitals. Of the 273 tests ordered by oncology healthcare professionals post-training, 241 (93.1%) met national testing guidelines. The number of tests ordered by genetic health professionals reduced significantly (z = 45.0, p = 0.008). Oncology healthcare professionals' perceived barriers to mainstreamed testing decreased from baseline to follow-up (t = 2.39, p = 0.023), particularly perceived skills, knowledge and attitudes. However, only 58% reported either 'always' or 'nearly always' having ordered BRCA testing for eligible patients at 12 months, suggesting oncology healthcare professionals' perceived barriers were not systematically addressed through training. CONCLUSIONS: Oncology healthcare professionals have demonstrated a willingness to be involved in the provision of genetic testing in a mainstreaming model. If oncology services are to hold responsibility for coordinating genetic testing, their readiness will require understanding of barriers not addressed by training alone to inform future intervention design.

Long-term positive psychological outcomes in an Australian pancreatic cancer screening program.

Screening for pancreatic cancer (PC) in high-risk groups aimed to detect early cancers is currently done only in the research setting, and data on psychological outcomes of screening in these populations is scarce. To determine the psychological impact of a national Australian pancreatic screening program, a prospective study was conducted using validated psychological measures: impact of events scale (IES), psychological consequences questionnaire (PCQ) and the cancer worry scale. Measures were administered at baseline, 1-month and at 1-year post-enrolment and correlations with abnormal endoscopic ultrasound (EUS) results were calculated. Over a 6-year period, 102 participants were recruited to the screening program. Thirty-nine patients (38.2%) had an abnormal endoscopic ultrasound, and two patients (2.0%) were diagnosed with PC and two with other malignancies. Those with a personal history of cancer or a positive BRCA2 mutation demonstrated significantly increased worry about developing other types of cancer at baseline (p < 0.01). Irrespective of EUS result, there was a significant decrease of total IES score at 1 year (Z = - 2.0, p = 0.041). In patients with abnormal EUS results, there was a decrease in the total IES score at 1 year (Z = - 2.5, p = 0.011). In participants deemed to be most distressed at baseline based on their negative PCQ score, there was a significant decrease of the total PCQ (Z = - 3.2, p = 0.001), emotional (Z = - 3.0, p = 0.001), social (Z = 3.0, p = 0.001) and physical (Z = - 2.8, p = 0.002) subscale at 1-year post-intervention. This study provides evidence of the long-term psychological benefits of PC screening in high-risk patients. There was no negative impact of screening in the short-term and the positive benefits appeared at 1-year post-intervention irrespective of screening result.

Perspectives of oncology nurses and oncologists regarding barriers to working with patients from a minority background: Systemic issues and working with interpreters.

This study aimed to ascertain the systemic barriers encountered by oncology health professionals (HPs) working with patients from ethnic minorities to guide the development of a communication skills training programme. Twelve medical and five radiation oncologists and 21 oncology nurses were invited to participate in this qualitative study. Participants were interviewed individually or in a focus group about their experiences working with people from minority backgrounds. All interviews were transcribed verbatim and analysed thematically. HPs encountered language and communication barriers in their interactions with patients and their families, which were perceived to impact negatively on the quality and amount of information and support provided. There was a shortage of, and poor processes for engaging, interpreters and some HPs were concerned about the accuracy of interpretation. HPs expressed a need for training in cultural awareness and communication skills with a preference for face-to-face delivery. A lack of funding, a culture of "learning on the job", and time constraints were systemic barriers to training. Oncologists and oncology nurses encounter complex challenges in clinical interactions with minority patients and their families, including difficulties working with interpreters. Formal training programmes targeted to the development of culturally competent communication skills are required.

Motivators and barriers of tamoxifen use as risk-reducing medication amongst women at increased breast cancer risk: a systematic literature review.

BACKGROUND: Selective estrogen receptor modulators, such as tamoxifen, reduce breast cancer risk by up to 50% in women at increased risk for breast cancer. Despite tamoxifen's well-established efficacy, many studies show that most women are not taking up tamoxifen. This systematic literature review aimed to identify the motivators and barriers to tamoxifen use 's amongst high-risk women. METHODS: Using MEDLINE, PsycINFO, and Embase plus reviewing reference lists of relevant articles published between 1995 and 2016, 31 studies (published in 35 articles) were identified, which addressed high-risk women's decisions about risk-reducing medication to prevent breast cancer and were peer-reviewed primary clinical studies. RESULTS: A range of factors were identified as motivators of, and barriers to, tamoxifen uptake including: perceived risk, breast-cancer-related anxiety, health professional recommendation, perceived drug effectiveness, concerns about side-effects, knowledge and access to information about side-effects, beliefs about the role of risk-reducing medication, provision of a biomarker, preference for other forms of breast cancer risk reduction, previous treatment experience, concerns about randomization in clinical trial protocols and finally altruism. CONCLUSIONS: Results indicate that the decision for high-risk women regarding tamoxifen use or non-use as a risk-reducing medication is not straightforward. Support of women making this decision is essential and needs to encompass the full range of factors, both informational and psychological.

Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review.

Evidence suggests that a significant proportion of individuals referred to cancer genetic counselling (GC) do not attend, and thus may not be engaged in adequate cancer risk management. We aimed to review the literature to better understand barriers to accessing GC and how they may be overcome. We conducted a systematic literature search for articles examining factors influencing cancer GC uptake as well as motivators and barriers to GC attendance. Factors were categorised as sociodemographic, psychosocial or clinical. The literature search identified 1413 citations, 35 of which met the inclusion criteria. GC uptake ranged from 19% to 88%. With the exceptions of education level, socioeconomic status, cancer-specific distress, personal cancer diagnosis and actual and perceived risk of cancer, support was lacking for most sociodemographic, clinical and psychosocial factors as predictors of GC uptake. Cost and logistical barriers, emotional concerns, family concerns and low perceived personal relevance were reported as important considerations for those declining GC. We conclude that there is poor understanding of GC and a lack of decision support among those referred to GC. Research into ways of providing education and support to referred individuals will be important as the scope and availability of GC and genetic testing broaden.

Advanced cancer patients' attitudes towards, and experiences with, screening for somatic mutations in tumours: a qualitative study.

Somatic mutations in key oncogenes in non-small cell lung cancer (NSCLC) and melanoma are important determinants of tumour sensitivity to targeted therapies. Molecular screening for these predictive biomarkers is routinely used to inform treatment decisions; however, little is known about how best to communicate testing and results to patients. This qualitative study aimed to explore advanced cancer patients' attitudes and experiences regarding somatic tumour screening to identify their information and support needs. Sixteen NSCLC and eight melanoma patients who had undergone screening participated in a semi-structured face-to-face or telephone interview exploring their understanding, views, preferences and needs regarding screening. Interviews were audiotaped, transcribed and analysed for thematic patterns. Participants expressed positive views and unequivocal acceptance of screening, and understood its role in guiding treatment selection. They preferred to receive information verbally through simple, non-technical language from their oncologist with additional take-home materials. Patients were interested in learning about their test results, but wanted discussion to be focused on practical matters relevant to treatment. While receiving their screening results was not considered burdensome, information overload and cancer-related distress were identified as barriers to test comprehension. Patients may benefit from information and decision-related tools to better understand genomic information and adequately support psychosocial outcomes.

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.

Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

A meta-analysis of the risk of major affective disorder in relatives of individuals affected by major depressive disorder or bipolar disorder.

BACKGROUND: To conduct a meta-analysis to estimate the incidence of major depressive disorder (MDD) and bipolar disorder (BD) in first-degree relatives (FDRs) of probands affected by MDD or BD. The risk for MDD in FDR of BD probands and vice versa is also investigated. METHODS: A systematic review of case-control and cohort studies, which were published between 1977 and 2012; reported relative risks (RR) or odd ratios (OR) or equivalent raw data; made an explicit distinction between MDD and BD; used operational diagnostic criteria; and reported systematic proband recruitment and ascertainment of relatives. Studies were obtained by electronic MEDLINE and EMBASE searches and hand-searching. Estimates were derived from pooled data using random effects methods. RESULTS: Of an initial sample of 241 articles, 22 were eligible for inclusion. For FDRs of one proband with MDD compared to healthy control probands, estimates for MDD were OR=2.14 (95% CI 1.72-2.67), increasing to OR=3.23 (95% CI 2.11-4.94) for two MDD probands. For FDRs of one BD proband compared to healthy control probands, estimates for BD were OR=7.92 (95% CI 2.45-25.61), and OR=6.58 (95% CI 2.64-16.43) for FDRs of two BD probands. CONCLUSIONS: These findings support previously published data indicating strong familiality for both MDD and BD. Data will be useful in providing individuals with a family history of MDD or BPD with tailored risk estimates.

Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer.

PURPOSE: Women with breast cancer, who are found to be BRCA1/2 mutation carriers, have a high risk of ovarian cancer and metachronous breast cancer. Treatment-focused genetic testing (TFGT), offered around the time of diagnosis, allows genetic test results to inform surgical treatment decisions. However, concern has been raised that offering TFGT at this time may overly increase psychological burden. This study aimed to qualitatively explore women's attitudes and experiences of TFGT. METHODS: Women who had been diagnosed with breast cancer at age 50 years or less undertook a semi-structured telephone interview (n = 26). The sample included women who had been offered TFGT, based on family history and/or other risk criteria (n = 14), and women who had been diagnosed within the past 6-12 months and had not been offered TFGT (n = 12). Interviews explored women's attitudes towards TFGT, perceived benefits and disadvantages, implications of TFGT and impact on surgical decision making. Interviews were transcribed verbatim and thematically analysed. RESULTS: Women expressed positive attitudes towards TFGT and felt it was highly relevant to their surgical decision making. They did not feel that an offer of TFGT shortly after, or at the time of diagnosis, added undue psychological burden. The majority of women interviewed felt that TFGT should be incorporated into standard clinical care. CONCLUSIONS: TFGT is viewed favourably by women newly diagnosed with breast cancer. Future randomized controlled trials are needed to examine the long-term impact of TFGT. We conclude that an offer of TFGT is not perceived as 'too much, too soon' by relevant patients.

Making hard choices easier: a prospective, multicentre study to assess the efficacy of a fertility-related decision aid in young women with early-stage breast cancer.

BACKGROUND: Fertility is a priority for many young women with breast cancer. Women need to be informed about interventions to retain fertility before chemotherapy so as to make good quality decisions. This study aimed to prospectively evaluate the efficacy of a fertility-related decision aid (DA). METHODS: A total of 120 newly diagnosed early-stage breast cancer patients from 19 Australian oncology clinics, aged 18-40 years and desired future fertility, were assessed on decisional conflict, knowledge, decision regret, and satisfaction about fertility-related treatment decisions. These were measured at baseline, 1 and 12 months, and were examined using linear mixed effects models. RESULTS: Compared with usual care, women who received the DA had reduced decisional conflict (ß=-1.51; 95%CI: -2.54 to 0.48; P=0.004) and improved knowledge (ß=0.09; 95%CI: 0.01-0.16; P=0.02), after adjusting for education, desire for children and baseline uncertainty. The DA was associated with reduced decisional regret at 1 year (ß=-3.73; 95%CI: -7.12 to -0.35; P=0.031), after adjusting for education. Women who received the DA were more satisfied with the information received on the impact of cancer treatment on fertility (P<0.001), fertility options (P=0.005), and rated it more helpful (P=0.002), than those who received standard care. CONCLUSION: These findings support widespread use of this DA shortly after diagnosis (before chemotherapy) among younger breast cancer patients who have not completed their families.

There is no decision to make: experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer.

OBJECTIVE: There is growing evidence that the BRCA mutation status of women newly diagnosed with ovarian cancer may be used to make treatment recommendations in the future. This qualitative study aimed to assess women's attitudes and experiences toward treatment-focused genetic testing (TFGT). METHODS: Women (N=22) with ovarian cancer who had either (i) advanced disease and had previously had TFGT (n=12) or (ii) had a recent ovarian cancer diagnosis and were asked about their hypothetical views of TFGT (n=10), were interviewed in-depth. RESULTS: This study demonstrates that patients diagnosed with ovarian cancer found the concept of TFGT acceptable with the primary motivation for genetic testing being to increase their treatment options. Women reported that there was no decision to make about TFGT, and the advantages of TFGT were perceived to outweigh the disadvantages. Many women described elements of resilience and active coping, in the context of hypothetical and actual TFGT. CONCLUSIONS: Resilience and active coping strategies are important factors that warrant investigation as potential moderators of psychological distress in future prospective studies exploring the optimal way of offering BRCA genetic testing to women newly diagnosed with ovarian cancer, and to assess the impact of TFGT upon patients' survival, psychological distress, and quality of life.

A prospective study assessing anxiety, depression and maternal-fetal attachment in women using PGD.

BACKGROUND: PGD has been described in previous cross-sectional and retrospective studies as a stressful experience. No prospective studies of the psychological impact of PGD are currently available. METHODS: Using a prospective study design, validated measures exploring anxiety and depression were used to assess women using PGD prior to treatment, following embryo transfer, following the pregnancy test result and at 24 weeks of pregnancy. Maternal-fetal attachment was also assessed during pregnancy. RESULTS: The prospective design revealed the cyclical pathway through PGD for many women, often comprising repeated cycles of ovarian stimulations and IVF and frozen embryo transfers. As predicted, there were significant fluctuations in women's anxiety scores, with increases observed following embryo transfer and pregnancy testing. Women's anxiety scores returned to baseline levels during pregnancy as assessed at 24 weeks gestation. Depression scores did not significantly fluctuate during PGD. Maternal-fetal attachment scores in this sample did not differ from the normative Australian data. CONCLUSIONS: For some women, the PGD pathway is convoluted and requires multiple IVF cycles and embryo transfers to achieve pregnancy. A subset of women experience significant emotional burden during PGD treatment, and it is these women who require closer attention and support. In this sample, emotional adjustment in pregnancy following PGD appears to be sound.

Community interest in predictive genetic testing for susceptibility to major depressive disorder in a large national sample.

BACKGROUND: Despite international concern about unregulated predictive genetic testing, there are surprisingly few data on both the determinants of community interest in such testing and its psychosocial impact. METHOD: A large population-based public survey with community-dwelling adults (n=1046) ascertained through random digit dialling. Attitudes were assessed by structured interviews. RESULTS: The study found strong interest in predictive genetic testing for a reported susceptibility to depression. Once the benefits and disadvantages of such testing had been considered, there was significantly greater interest in seeking such a test through a doctor (63%) compared to direct-to-consumer (DTC; 40%) (p<0.001). Personal history of mental illness [odds ratio (OR) 2.58, p<0.001], self-estimation of being at higher than average risk for depression (OR 1.92, p<0.001), belief that a genetic component would increase rather than decrease stigma (OR 1.62, p<0.001), and endorsement of benefits of genetic testing (OR 3.47, p<0.001) significantly predicted interest in having such a test. CONCLUSIONS: Despite finding attitudes that genetic links to mental illness would increase rather than decrease stigma, we found strong community acceptance of depression risk genotyping, even though a predisposition to depression may only manifest upon exposure to stressful life events. Our results suggest that there will be a strong demand for predictive genetic testing.

Skin cancer screening behaviours among individuals with a strong family history of malignant melanoma.

BACKGROUND: This study examined the prevalence and correlates of skin cancer screening behaviours among individuals at high risk of developing melanoma due to strong family history. METHODS: A total of 120 individuals with a known family-specific CDKN2A mutation (72% response rate) completed a self-report questionnaire assessing annual frequency of skin self-examination (SSE), clinical skin examination (CSE) and a variety of potential demographic, clinical and psychosocial correlates. RESULTS: In the past 12 months, 50% of participants reported engaging in SSE at least four times, and 43% of participants had undergone at least one CSE. Engagement in SSE was associated with doctor recommendation (ß=1.77, P=0.001), confidence in one's ability to perform SSE (ß=1.44, P<0.0001), positive beliefs about melanoma treatment (ß=0.77, P=0.002) and intention to perform SSE in the future (ß=1.69, P<0.0001). These variables accounted for 59% of the variance in SSE behaviour. Further, information-seeking style moderated the relationship between anxiety and SSE (ß=1.02, P=0.004). Annual uptake of CSE was associated with doctor recommendation (ß=2.21, P<0.0001) and intention to undergo CSE in the future (ß=1.19, P=0.001). CONCLUSION: In comparison with clinical guidelines, it appears that individuals at high risk of developing melanoma engage in suboptimal levels of skin surveillance. Improved doctor-patient communication, as well as psycho-education and behavioural support, may be viable means of improving early skin cancer detection behaviours in this high-risk population.

Women's experience of pre-implantation genetic diagnosis: a qualitative study.

OBJECTIVE: To provide an in-depth account of the experience of pre-implantation genetic diagnosis (PGD). METHOD: Exploratory qualitative interview study. Participants were recruited from one major in vitro fertilization (IVF) clinic in Sydney, Australia. Data were collected through 14 in-depth interviews with women at different stages of PGD, utilized a thematic approach and facilitated by NVivo software. RESULTS: Women reported using PGD as empowering and led them to feel in control of their reproductive futures. Health professionals who did not tell women about PGD were seen as a barrier to accessing treatment. The ability to select embryos free from the genetic condition (for which it was at risk) alleviated stress. Despite this, stress experienced with PGD was significant for women, and often related to past experiences of reproductive trauma and grief. The outcome of embryos was also the cause of stress for women. CONCLUSION: Women undergoing PGD have a diverse range of reproductive and genetic histories, psychosocial circumstances and world views that all interact and impact their experience of PGD. Successful support and care of these women should address all of these factors and tailor the support provided for women using this physically and emotionally complex form of reproductive technology.

Psychological adjustment, knowledge and unmet information needs in women undergoing PGD.

BACKGROUND: Women often enter preimplantation genetic diagnosis (PGD) treatment following traumatic reproductive and genetic histories, the detrimental psychological effects of which are known to be long lasting in some cases. In addition, attempting IVF with PGD requires an in-depth understanding of the aspects of the technology. The level of information that is required and retained by women entering treatment is important for clinicians to understand. To date, neither of these issues has been explored empirically. To address this, we assessed mood and information-seeking behavior in a sample of women entering PGD. METHODS: Fifty women entering PGD treatment completed self-administered questionnaires that assessed anxiety, depression, knowledge of technical aspects of PGD, expectancy of establishing a pregnancy and unmet information needs. RESULTS: Anxiety and depression rates were similar to normal population data. State anxiety was associated with degree of financial worry [beta = 0.36, t = 2.60, P = 0.01, 95% confidence interval (CI): 0.03-0.23], and living in an inner metropolitan area (beta = 0.30, P = 0.03, 95% CI: 0.32-10.81). Unmet information needs were positively associated with women's education (beta = 0.97, P = 0.01, 95% CI: 0.22-1.73). Lastly, expectancy of establishing a pregnancy was above that of what clinicians provide as realistic PGD pregnancy chances and, unexpectedly, was also associated with degree of financial worry (beta = 0.36, P = 0.01, 95% CI: 0.07-0.56). CONCLUSIONS: Women entering PGD are emotionally well adjusted although the financial costs associated with PGD are associated with increases in anxiety. The study is limited by its small sample size and the fact that partners were not assessed.

Psychological impact of preimplantation genetic diagnosis: a review of the literature.

Preimplantation genetic diagnosis (PGD) was first reported as successful in humans in the early 1990s and nearly two decades later the psychological impact of PGD has not yet been clearly defined. As PGD requires the use of IVF, this paper provides a brief summary of literature related to the various psychological aspects of IVF followed by a review of the literature related to the psychological and broader psychosocial impact of PGD. The current literature includes attitudinal studies of couples for whom PGD may be beneficial and results suggest that those with traumatic reproductive and genetic histories are more likely to find PGD an acceptable treatment option. A small number of studies have used samples of women and couples who have used PGD. Due to a general lack of homogeneity in scope, method and results, these studies have not provided a uniform understanding of the PGD experience. Promisingly, however, two studies on parents of children born after PGD that explored parental stress show no differences between PGD, IVF and natural conception couples. The paper concludes that the missing link in the literature is a prospective study of PGD using validated psychological scales. Suggestions for future research are provided.