Evaluation of a decision aid for families considering p53 genetic counseling and testing.

PURPOSE: Li-Fraumeni syndrome (LFS) is associated with p53 germline mutations, and carriers are at increased risk for multiple primary cancers. We evaluated outcomes following the administration of a video-based decision aid (DA) prior to clinical p53 genetic counseling and testing among persons who had previously participated in cancer genetics research. METHODS: Fifty-seven individuals at risk for a known p53 mutation completed baseline and post-DA measures of psychological outcomes, plus knowledge and attitudes regarding p53 genetic testing. Counseling and testing uptake also was recorded. RESULTS: At baseline, multivariate analysis showed that greater testing intention was associated with lower decisional conflict (P < 0.01). Compared with baseline data, multivariate analyses of post-DA outcomes showed that knowledge about LFS and genetic testing increased and decisional conflict related to testing decreased (P < 0.001). Mean cancer worries scores decreased among all participants (P < 0.001), and mean depression scores decreased for males (P < 0.05). Thirty-nine (68%) completed pre-test genetic counseling and 23 (40%) subsequently gave a blood sample for clinical genetic testing. CONCLUSION: This intervention was useful as an initial outreach and educational method for families considering p53 genetic testing, and may improve knowledge about LFS as well as psychological outcomes.     

A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients

Prenatal diagnosis (PND) is offered routinely as part of pregnancy care to a large number of women at increased risk of fetal anomalies. Despite an extraordinary growth in the use of PND and significant resource allocation, few studies have examined outcomes of PND counseling, and virtually no research has evaluated the relative efficacy of various approaches to genetic counseling. This study was a randomized trial that compared which counseling methods - individual, group, and use of a decision aid - are effective in PND counseling for women of advanced maternal age (>/=35 years) and their partners. Three hundred and fifty-two women and 225 partners completed pre- and post-intervention questionnaires assessing changes in knowledge, decisional conflict, state anxiety, satisfaction, use of PND, and pregnancy outcomes. All participants showed a significant increase in knowledge and a decrease in decisional conflict post intervention. Those in the group intervention showed a significantly greater increase in knowledge than those in the individual counseling intervention. While high levels of satisfaction were reported by all, those in individual counseling were significantly more satisfied than those receiving group counseling or the decision aid. This study has shown unique benefits with each type of intervention such that women and their partners preferred individual genetic counseling, while they learned best in group-counseling sessions, and experienced the least decisional conflict regarding genetic testing with a decision aid.     

Psychological response to prenatal genetic counseling and amniocentesis

The purpose of the present study was to characterize the psychological status (attitudes toward selective abortion, perceived risk, comprehension, patient satisfaction, coping, and state anxiety) of pregnant women at increased risk for fetal genetic anomalies who were referred for prenatal genetic counseling and amniocentesis; to determine which of these factors would predict amniocentesis use; and to identify patient outcomes associated with counseling and testing. Participants were 129 women aged 18 years and older who had one or more fetal genetic risk factors. All were recruited from an urban women's health clinic. The results revealed elevated perceptions of risk and moderate state anxiety despite adequate comprehension of, and patient satisfaction with, the process and content of genetic counseling. Approximately 78% agreed to testing; those who consented were more likely to hold favorable attitudes toward abortion than those who refused. Post-counseling, women experienced decrease in their perceived risk of having a baby born with a birth defect although perceived risk estimates remained higher than actual risks. Anxiety was clinically elevated and highest at the pre-counseling stage, though it dissipated to normal levels over time. Previous experience with prenatal diagnostic testing, increased perceived risk of a birth anomaly, and favorable attitudes toward abortion were independently associated with increased pre-counseling anxiety. Women who were more anxious pre-counseling remained more anxious post-counseling. Coping (high versus low monitoring) was unrelated to anxiety. These findings suggest that women who participate in prenatal counseling and testing may be subject to experience distress and unrealistic perceptions of their risk and may benefit from interventions designed to lessen these states.     

Development and testing of a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation

For women who carry a mutation in BRCA1 or BRCA2, the risk of breast cancer is up to 87% by the age of 70. There are options available to reduce the risk of breast cancer; however, each option has both risks and benefits, which makes decision making difficult. The objective is to develop and pilot test a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation. The decision aid was developed and evaluated in three stages. In the first stage, the decision aid was developed and reviewed by cancer genetics experts. The second stage was a review of the decision aid by women with a BRCA1 or BRCA2 mutation for acceptability and feasibility. The final stage was a pre-test--post-test evaluation of the decision aid. Twenty-one women completed the pre-test questionnaire and 20 completed the post-test questionnaire. After using the decision aid, there was a significant decline in mean decisional conflict scores (p = 0.001), a significant improvement in knowledge scores (p = 0.004), and fewer women uncertain about prophylactic mastectomy (p = 0.003) and prophylactic oophorectomy (p = 0.009). Use of the decision aid decreased decisional conflict to levels suggestive of implementation of a decision. In addition, knowledge levels increased and choice predisposition changed with fewer women being uncertain about each option. This has significant clinical implications as it implies that with greater uptake of cancer prevention options by women with a BRCA1 or BRCA2 mutation, fewer women will develop and/or die of hereditary breast cancer.     

Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions

PurposeThe aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population.MethodsDutch GPs invited 4,295 women aged 18–40. We examined anxiety (State-Trait Anxiety Inventory, STAI-6), worry, decisional conflict (DCS) over time in participants declining GP counseling or attending GP counseling with/without testing.ResultsOne hundred ninety couples participated; 130 attended counseling, of whom 117 proceeded with testing. No carrier couples were identified. Before counseling, worry (median 6.0) and anxiety (mean 30–34) were low and lower than the population reference (36.4), although some individuals reported increased anxiety or worry. At follow-up, test acceptors reported less anxiety than test decliners (mean 29 vs. 35); differences in anxiety after testing compared to before counseling were not meaningful. Most participants (90%) were satisfied with their decision (not) to undergo testing.ConclusionSome individuals reported temporarily clinically relevant distress. Overall, the psychological outcomes are acceptable and no barrier to population-wide implementation.     

Noninvasive prenatal testing: limitations and unanswered questions

The clinical use of noninvasive prenatal testing to screen high-risk patients for fetal aneuploidy is becoming increasingly common. Initial studies have demonstrated high sensitivity and specificity, and there is hope that these tests will result in a reduction of invasive diagnostic procedures as well as their associated risks. Guidelines on the use of this testing in clinical practice have been published; however, data on actual test performance in a clinical setting are lacking, and there are no guidelines on quality control and assurance. The different noninvasive prenatal tests employ complex methodologies, which may be challenging for health-care providers to understand and utilize in counseling patients, particularly as the field continues to evolve. How these new tests should be integrated into current screening programs and their effect on health-care costs remain uncertain.Genet Med 2014:16(4):281–285.     

A factorial randomised controlled trial of decision analysis and an information video plus leaflet for newly diagnosed hypertensive patients.

BACKGROUND: There is a lack of evidence regarding the value of tools designed to aid decision making in patients with newly diagnosed hypertension. AIM: To evaluate two interventions for assisting newly diagnosed hypertensive patients in the decision whether to start drug therapy for reducing blood pressure. DESIGN OF STUDY: Factorial randomised controlled trial. SETTING: Twenty-one general practices in south-west England, UK. METHOD: Adults aged 32 to 80 years with newly diagnosed hypertension were randomised to receive either: (a) computerised utility assessment interview with individualized risk assessment and decision analysis; or (b) information video and leaflet about high blood pressure; or (c) both interventions; or (d) neither intervention. Outcome measures were decisional conflict, knowledge, state anxiety, intentions regarding starting treatment, and actual treatment decision. RESULTS: Of 217 patients randomised, 212 (98%) were analysed at the primary follow-up (mean age = 59 years, 49% female). Decision analysis patients had lower decisional conflict than those who did not receive this intervention (27.6 versus 38.9, 95% confidence interval [CI] for adjusted difference = -13.0 to -5.8, P < 0.001), greater knowledge about hypertension (73% versus 67%, adjusted 95% CI = 2% to 9%, P = 0.003) and no evidence of increased state anxiety (34.8 versus 36.8, adjusted 95% CI = -5.6 to 0.1, P = 0.055). Video/leaflet patients had lower decisional conflict than corresponding controls (30.3 versus 36.8, adjusted 95% CI = -7.4 to -0.6, P = 0.021), greater knowledge (75% versus 65%, adjusted 95% CI = 6% to 13%, P < 0.001) and no evidence of increased state anxiety (35.7 versus 36.1, adjusted 95% CI = -3.9 to 1.7, P = 0.46). There were no differences between either of the interventions and their respective controls in the proportion of patients prescribed antihypertensive medication (67%). CONCLUSIONS: This trial demonstrates that, among patients facing a real treatment decision, interventions to inform patients about hypertension and to clarify patients' values concerning outcomes of treatment are effective in reducing decisional conflict and increasing patient knowledge, while not resulting in any increases in state anxiety.     

Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice

ObjectivesTo explore informed choice in reproductive genetic carrier screening (RGCS).MethodsWomen visiting a gynaecologist practice in Flanders (Belgium) were asked to consider participation in a study where RGCS was offered for free to them and their male partner. A modified Multidimensional Measure of Informed Choice was used to determine whether couples who opted for RGCS made an informed choice. In addition, we assessed risk perception, feelings towards RGCS, anxiety and decisional conflict.ResultsMost participants (82 %, n = 63/77) made an informed choice with regard to RGCS according to our modified MMIC. Thirteen participants made an uninformed choice due to insufficient knowledge and one participant because of insufficient knowledge and value-inconsistency. Anxiety scores were elevated for three participants. Two participants presented with decisional conflict.ConclusionOur results show high rates of informed choice among non-pregnant couples who were offered RGCS in a research study and received up to 30 min of pre-test counseling.Practice implicationsLimited resources outside a research context may impact informed choice. Pre-test counselling initiatives for RGCS should ideally be organized in such a way that information can be provided at multiple time points to avoid information overload and to allow for a reflection period.     

Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior

PurposeTo prospectively assess patient reported outcomes and risk management behavior of women choosing to receive (receivers) or decline (decliners) their breast cancer polygenic risk score (PRS).MethodsWomen either unaffected or affected by breast cancer and from families with no identified pathogenic variant in a breast cancer risk gene were invited to receive their PRS. All participants completed a questionnaire at study enrollment. Receivers completed questionnaires at two weeks and 12 months after receiving their PRS, and decliners a second questionnaire at 12 months post study enrollment.ResultsOf the 208 participants, 165 (79%) received their PRS. Among receivers, there were no changes in anxiety or distress following testing. However, compared to women with a low PRS, those with a high PRS reported greater genetic testing–specific distress, perceived risk, decisional regret, and less genetic testing–positive response. At 12 months, breast screening and uptake of risk-reducing strategies were consistent with current Australian guidelines of breast cancer risk management. Reasons for declining PRS included being unable to attend the appointment in person and concerns over potential emotional response.ConclusionThe outcomes of the study provide insight into women’s responses to receiving PRS and highlight the issues that need to be addressed in the associated model of genetic counseling.     

Long-term impact of Huntington disease linkage testing

We performed a long-term follow-up of Huntington disease (HD) predictive testing (an average of 6 years post-test) for 16 of 20 people who received informative linkage test results. Although no pre-test or baseline psychological differences were noted between those with an increased versus a decreased risk of HD, the long-term impact was dramatically different in these two groups. The low-risk group reported less uncertainty, anxiety or worry, fear, and worry about children's risk, whereas the high-risk group reported either the same or increased concern in these areas. Those at low risk also acknowledged an increased sense of control and self-esteem, whereas those at high risk reported decreases or no changes. One high-risk individual reported chronic depression that had occurred since the testing. Additionally, those at low risk reported greater reliance and faith in spiritual or religious beliefs than those at high risk. The emotional impact of HD genetic testing justifies the continued utilization of pre- and post-test counseling protocols. Pre-test counseling should include discussion of the known risks and benefits of predictive testing, with special emphasis on the participant's expectations for future change and improvement. Although the psychological impact appears mostly favorable for those with decreased risk, there is risk for a decline in psychological well-being over time for those with an increased risk for HD. Am J. Med. Genet. 70:365–370, 1997. © 1997 Wiley-Liss, Inc.     

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

PurposeTo evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with genetic counseling alone.MethodsA randomized controlled trial (RCT) was conducted to evaluate whether the Genomics ADvISER is superior to genetic counseling when hypothetically selecting SF. Participants were randomized to use the DA followed by discussion with a genetic counselor, or to genetic counseling alone. Surveys were administered at baseline and post-intervention. Primary outcome was decisional conflict. Secondary outcomes were knowledge, preparation for, and satisfaction with decision-making, anxiety, and length of counseling session.ResultsParticipants (n = 133) were predominantly White/European (74%), female (90%), and ≥50 years old (60%). Decisional conflict (mean difference 0.05; P = 0.60), preparation for decision-making (0.17; P = 0.95), satisfaction with decision (–2.18; P = 0.06), anxiety (0.72; P = 0.56), and knowledge of sequencing limitations (0.14; P = 0.70) did not significantly differ between groups. However, intervention participants had significantly higher knowledge of SF (0.39; P < 0.001) and sequencing benefits (0.97; P = 0.01), and significantly shorter counseling time (24.40 minutes less; P < 0.001)ConclusionsThe Genomics ADvISER did not decrease decisional conflict but reduced counseling time and improved knowledge. This decision aid could serve as an educational tool, reducing in-clinic time and potentially health care costs.     

Evaluation of a decision aid for making choices about intubation and mechanical ventilation in chronic obstructive pulmonary disease

To assist patients with chronic obstructive pulmonary disease (COPD) in advance planning for life-threatening exacerbations, we developed a structured decision aid that describes the process, risks, and outcomes of intubation and mechanical ventilation (MV). Thirty-three patients with severe COPD took part in a before-after evaluation study. At baseline, only two participants (6%) reported that they had already made an advance decision about MV. After reviewing the decision aid, 31 participants (94%) reported that they had made a choice, which in 23 cases (74% of those deciding) was to forego MV. These choices were associated with more accurate expectations of MV outcome, and reduced decisional conflict. Qualitatively, participants who would accept MV emphasized their wish to prolong life, whereas those who would forego MV were more influenced by the burdens of treatment and the perception of a poor long-term outcome. However, there was evidence that 24% of participants did not completely comprehend the decision aid and 27% found the experience to be stressful. These findings indicate that a decision aid for MV helps patients plan for life-threatening exacerbations, and may be a useful adjunct to counseling for some patients with severe COPD.     

The role of numeracy on client knowledge in BRCA genetic counseling

Objective

To assess the impact of numeracy and health literacy on client's ability to learn information orally communicated during a BRCA 1/2 genetic counseling session.

Methods

Fifty-nine videotaped simulated genetic counseling sessions were shown to 246 analogue clients (AC) recruited to imagine themselves as the client in the genetic counseling session. AC numeracy, genetic literacy, state and trait anxiety, and decisional conflict were assessed. The primary outcome was AC learning about BRCA 1/2.

Results

Health literacy and numeracy were moderately correlated, and each independently predicted learning. Higher numeracy was associated with higher knowledge scores only among ACs with adequate literacy. Decisional conflict was not related to literacy, numeracy, or knowledge acquisition. It was, however, inversely related to state anxiety so that the higher post-session state anxiety, the lower the AC's decisional conflict.

Conclusion

Numeracy and health literacy are associated with learning of orally communicated information during genetic counseling. It appears that numeracy can facilitate learning for literate subjects; it does not, however, make any difference in learning ability of clients with significant literacy deficits.

Practice implications

Numeracy plays an important role in client's ability to learn information communicated during medical sessions, especially among clients who are otherwise regarded as literate.     

Decisional conflict among adolescents and parents making decisions about genomic sequencing results

Genomic testing of adolescents is increasing yet engaging them in decision-making is not routine. We assessed decisional conflict in adolescents and a parent making independent decisions about actual genomic testing results and factors that influenced their choices. We enrolled 163 dyads consisting of an adolescent (13-17 years) not selected based on a specific clinical indication and one parent. After independently choosing categories of conditions to learn for the adolescent, participants completed the validated Decisional Conflict Scale and a survey assessing factors influencing their respective choices. Adolescents had higher decisional conflict scores than parents (15.6 [IQR:4.7-25.6] vs 9.4 [IQR:1.6-21.9]; P = .0007). Adolescents with clinically significant decisional conflict were less likely to choose to learn all results than adolescents with lower decisional conflict (19.6% vs 80.4%; P < .0001) and less likely to report their choices were influenced by actionability of results (33.3% vs 18.9%; P = .044) and feeling confident they can deal with the results (71.2% vs 91.9%; P = .0005). Our findings suggest higher decisional conflict in adolescents may influence the type and amount of genomic results they wish to learn. Additional research assessing decisional conflict and factors influencing testing choices among adolescents in clinical settings are required.     

Predicting decisional conflict: Anxiety and depression in shared decision making

ObjectivesEmotional distress can be a potential barrier to shared decision making (SDM), yet affect is typically not systematically assessed in medical consultation. We examined whether urological patients report anxiety or depression prior to a consultation and if emotional distress predicts decisional conflict thereafter.MethodsWe recruited a large sample of urological outpatients (N = 397) with a range of different diagnoses (42 % oncological). Prior to a medical consultation, patients filled in questionnaires, including the Hospital Anxiety and Depression Scale. After the consultation, patients completed the Decisional Conflict Scale. We scored the rate of anxiety and depression in our sample and conducted multiple regression analysis to examine if emotional distress before the consultation predicts decisional conflict thereafter.ResultsAbout a quarter of patients reported values at or above cut-off for clinically relevant emotional distress. Emotional distress significantly predicted a higher degree of decisional conflict. There were no differences in emotional distress between patients with and without uro-oncological diagnosis.ConclusionsEmotional distress is common in urology patients – oncological as well as non-oncological. It predicts decisional conflict after physician consultation.Practice ImplicationsEmotional distress should be systematically assessed in clinical consultations. This may improve the process and outcome of SDM.     

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.     

Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families

This qualitative study explores the experiences of cystic fibrosis (CF) carrier couples, prospectively identified in CF families, and the impact of the resulting genetic risk on reproductive behavior. Of the 12 couples identified until 1997, seven couples participated in semistructured interviews and two couples filled in a questionnaire, two to eight years after receipt of the test-results. After receiving the results, most couples reported that they were shocked, because they did not expect to both be carriers. More anxiety was expressed by those who were pregnant (n = 4) at the time of testing. There were reported difficulties in disclosing the results to family members, and the reactions of family members were not always supportive. After testing, some couples had problems with reproductive decision-making. All viable pregnancies (17 in 8 couples) were monitored by prenatal diagnosis; all affected pregnancies were terminated (6 in 4 couples). Couples who have live-born children after testing may subsequently have concerns during infancy about the correctness of the results of prenatal diagnosis and how to inform their children. Most couples did not regret the testing and, in general, the counseling was experienced positively, although some dissatisfaction was reported with regard to the psychological support received during pregnancy. Couples supported the idea of carrier screening in the general population, although various concerns were expressed. The results indicate a preference for testing before pregnancy. These findings may be useful in investigating possible dilemmas caused by the introduction of population carrier screening. Observations reported here might also apply to other recessively inherited disorders.     

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11–13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010–2015).ResultsInvasive testing decreased significantly by 39.6% from 2012 to 2015 despite steady births. More than half of all confirmed cases of trisomy 21 were ascertained by NIPS in 2015, despite NIPS comprising only 11.7% of total indications for invasive testing. CFTS uptake declined significantly from 77.5% in 2013 to 68.1% in 2015, but 11- to 13-week ultrasounds did not. In 2015, ultrasound abnormality replaced CFTS as the most common indication for invasive testing and chromosomal microarray was performed for 85.3% of all prenatal karyotypes.ConclusionPrenatal testing is now unequivocally in the genomic era. NIPS is now the screening test that precedes the majority of confirmed diagnoses of trisomy 21. The contributions of NIPS, early ultrasound, and chromosome microarray have led to unprecedented detection rates of major chromosome abnormalities, now found in 20% of all invasive tests.