Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers,and their impact on patient outcomes

Providing recurrence numbers is often considered a fundamental component of genetic counseling. We sought to fill knowledge gaps regarding how often patients actively seek recurrence numbers, and how they impact patient outcomes. We conducted a retrospective chart review at a clinic where patients routinely complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) pre (T1)/post (T2) appointment. Using analysis of covariance, we evaluated the effect on T2 GCOS score of: (1) receiving recurrence numbers and (2) patient perception of recurrence numbers. Recurrence numbers were a primary indication for 134/300 patients (45%). After counseling about etiology and risk‐reducing strategies, 116 patients (39%) opted to receive recurrence numbers, with most (n = 64, 55%) perceiving the number to be lower than expected. There was no difference in T2 GCOS scores between those who: (1) received recurrence numbers vs those who did not, or (2) perceived the number to be lower than expected vs those with other perceptions. However, a subset of patients who did not receive recurrence numbers had larger increases in GCOS scores. Our data provide impetus to question the assumption that recurrence numbers should be routinely provided in genetic counseling, and show that in naturalistic practice, optimal patient outcomes are not contingent on receipt of recurrence numbers.     

Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study

Telephone disclosure of cancer genetic test results is noninferior to in-person disclosure. However, how patients who prefer in-person communication of results differ from those who agree to telephone disclosure is unclear but important when considering delivery models for genetic medicine. Patients undergoing cancer genetic testing were recruited to a multicenter, randomized, noninferiority trial (NCT01736345) comparing telephone to in-person disclosure of genetic test results. We evaluated preferences for in-person disclosure, factors associated with this preference and outcomes compared to those who agreed to randomization. Among 1178 enrolled patients, 208 (18%) declined randomization, largely given a preference for in-person disclosure. These patients were more likely to be older (P = 0.007) and to have had multigene panel testing (P < 0.001). General anxiety (P = 0.007), state anxiety (P = 0.008), depression (P = 0.011), cancer-specific distress (P = 0.021) and uncertainty (P = 0.03) were higher after pretest counseling. After disclosure of results, they also had higher general anxiety (P = 0.003), depression (P = 0.002) and cancer-specific distress (P = 0.043). While telephone disclosure is a reasonable alternative to in-person disclosure in most patients, some patients have a strong preference for in-person communication. Patient age, distress and complexity of testing are important factors to consider and requests for in-person disclosure should be honored when possible.     

Evaluating empowerment in genetic counseling using patient-reported outcomes

Data about patient reported outcomes from cancer genetics services (CGS) are lacking but are essential to guide service evaluation and improvements. We measured improvement in empowerment, following genetic counseling in Singapore using a culturally-adapted version of the Genetic Counseling Outcome Scale (GCOS-24); and sought to identify factors associated with change in empowerment. The GCOS-24 was administered to 155 patients of the CGS, at pre- and post-counseling or testing timepoints. Of which, 110 patients underwent genetic testing. Individual pre- and post-counseling responses were subjected to Rasch analysis; the scale was subsequently split into cognitive control (CC) and emotional control (EC) domains. Associations of baseline characteristics with changes in pre- and post-CC and EC scores were assessed using multiple regression analysis. Both CC and EC scores showed significant improvement following genetic counseling and testing. While all items in the CC domain of being showed increases at follow-up, aspects of EC related to alleviating negative emotions (P = .88) and hopelessness (P = .2) did not show significant improvement. Our study revealed significant improvement in empowerment in patients who have received cancer genetic counseling, while revealing a need to cultivate hope and facilitate the alleviation of negative emotions in patients during genetic counseling.     

Text messaging reminders to reduce non-attendance in chronic disease follow-up: a clinical trial

Background

Non-attendance results in administrative problems and disruption in patient care. Several interventions have been used to reduce non-attendance, with varying degree of success. A relatively new intervention, text messaging, has been shown to be as effective as telephone reminders in reducing non-attendance. However, no study has looked specifically at using text messaging reminders to reduce non-attendance in chronic disease care.

Aim

To determine if text messaging would be effective in reducing non-attendance in patients on long-term follow-up, compared with telephone reminders and no reminder.

Design of study

A randomised controlled trial with three arms: text messaging reminder, telephone reminder, and control.

Setting

Two primary care clinics in Malaysia.

Method

A total of 931 subjects who had been on at least 6 months of follow-up were randomised into the three groups. Demographic variables were recorded at the first visit. In the intervention arms, a reminder was sent 24–48 hours prior to the appointment. Non-attendance rate was documented at the second visit. Non-attenders were defined as those who did not attend, attended early, or attended late without rescheduling their appointment. Attenders were defined as participants who had turned up for their scheduled appointment and those who had changed or cancelled their appointment with notification.

Results

The non-attendance rates in the text messaging group (odds ratio [OR] = 0.62, 95% confidence interval [CI] = 0.41 to 0.93, P = 0.020) and the telephone reminder group (OR = 0.53, 95% CI = 0.35 to 0.81), P = 0.003) were significantly lower than the control group. The absolute non-attendance rate for telephone reminders was lower by 2% compared to the text messaging group. This difference was not found to be statistically significant (P = 0.505).

Conclusion

Text messaging was found to be as effective as telephone reminder in reducing non-attendance in patients who required long-term follow-up for their chronic illnesses in this study. It could be used as an alternative to conventional reminder systems.     

Routine assessment of psychosocial problems after cancer genetic counseling: results from a randomized controlled trial

Approximately 70% of counselees undergoing cancer genetic counseling and testing (CGCT) experience some degree of CGCT‐related psychosocial problems. We evaluated the efficacy of an intervention designed to increase detection and management of problems 4 weeks after completion of CGCT. In this randomized, controlled trial, 118 participants completed a CGCT‐related problem questionnaire prior to an – audiotaped – telephone session with their counselor 1 month after DNA‐test disclosure. For those randomized to the intervention group (n = 63), a summary of the questionnaire results was provided to the counselor prior to the telephone session. Primary outcomes were discussion of the problems, counselors' awareness of problems, and problem management. Secondary outcomes included self‐reported distress, cancer worries, CGCT‐related problems, and satisfaction. Counselors who received a summary of the questionnaire were more aware of counselees' problems in only one psychosocial domain (practical issues). No significant differences in the number of problems discussed, in problem management, or on any of the secondary outcomes were observed. The prevalence of problems was generally low. The telephone session, combined with feedback on psychosocial problems, has minimal impact. The low prevalence of psychosocial problems 1 month post‐CGCT recommends against its use as a routine extension of the CGCT procedure.     

Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction

We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45–65 years) were randomized to receive estimated 10‐year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation.     

Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families

PurposeThe aim of this prospective cohort study was to examine uptake and psychological, behavioral, and cognitive outcomes of genetic testing for melanoma risk among individuals with a known family-specific CDKN2A mutation.MethodsA total of 119 individuals were ascertained via a genetic epidemiological study and completed a series of mailed, self-administered questionnaires at multiple time points, including notification of genetic test availability, and 2 weeks and 12 months after receipt of genetic test results (for “test participants”), or 12 months after notification (for “decliners”).ResultsSince January 2005, 21% of participants (n = 25) have undergone genetic testing, with 75% of those who have received results identified as mutation carriers (n = 15). Factors associated with uptake of genetic counseling included perceived susceptibility to melanoma (odds ratio = 3.60, P = 0.0008), and fatalistic beliefs about melanoma (odds ratio = 0.57, P = 0.005). Compared with baseline, carriers reported significantly reduced anxiety scores at 2 weeks, and reduced depression scores at 2 weeks and 12 months, after receipt of genetic test results. Carriers also reported a significantly greater frequency of clinical skin examination at 12-month follow-up compared with decliners (χ² = 5.70, P = 0.02). No hypothesis testing was carried out for noncarriers because of their limited number.ConclusionThese data provide preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk.     

Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling

PurposeAs genetic counseling and testing become more fully integrated into clinical care, alternative delivery models are increasingly prominent. This study examines predictors of genetic testing for hereditary breast/ovarian cancer among high-risk women in a randomized trial of in-person versus telephone-based genetic counseling.MethodsMethods include multivariable logistic regression and interaction analyses.ResultsOf the 669 participants, 600 completed counseling and 523 received test results. As previously reported, participants randomized to telephone counseling were significantly less likely to be tested. In intention-to-treat analyses, completion of counseling and testing was associated with: race/ethnicity (odds ratio (OR) = 1.96, 95% confidence interval (CI): 1.20–3.20), perceived stress (OR = 0.89, 95% CI: 0.81–0.98), knowledge (OR = 1.12, 95% CI: 1.02–1.23), and randomization group (OR = 1.48, 95% CI: 1.01–2.16). Further, race/ethnicity moderated the association between randomization group and testing; minority women receiving telephone counseling were least likely to complete testing.ConclusionEvidence for logistical and communication-based explanations for this interaction is presented. The overall increased access made possible with telephone genetic counseling should be considered in light of the possibility that this may also lead to lower rates of testing among high-risk minority women. Additional care should be taken to assess and address potential barriers when services are delivered by telephone.Genet Med17 6, 467–475.     

Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis

We describe an analysis of the responses of 605 adults with experience with Down syndrome, Marfan syndrome, or neurofibromatosis (NF) to the BNE Scale, a scale specifically designed to assess the background, needs, and expectations (BNE) of genetic counseling patients. Significant group differences were found. Specifically, the respondents in the Down syndrome group reported more favorable beliefs about the condition and the availability of social support than the respondents in the other groups. Respondents in the NF group reported more unsureness about their condition and a greater need for genetic information than members of the other groups. Notably, having positive feelings about the condition was negatively correlated with support group interest for respondents of the Marfan syndrome group (r = ?0.159, P < 0.01). Having an affected child was associated with interest in health provider input (t = ?3.4; P = 0.001) and the desire to talk about psychosocial issues (t = ?2.9; P = 0.004). However, previous experience with genetic counseling was not found to affect BNE. These results support the usefulness of the BNE Scale to compare the BNE of patient groups, as well as provide important insight into the BNE of individuals seeking counseling about Down syndrome, Marfan syndrome, and NF. © 2011 Wiley‐Liss, Inc.     

Rehabilitation outcomes following percutaneous coronary interventions (PCI)

This prospective study evaluated the effect of an individualized, comprehensive, home-based cardiac rehabilitation program combining exercise training with risk factor modification and psychosocial counseling on risk factors, psychological well-being, functional capacity, and work resumption in 99 post-percutaneous coronary interventions (PCI) patients randomized to control (standard care plus telephone follow-up, n=49) or intervention (individualized, comprehensive, home-based cardiac rehabilitation, n=50) groups. Data were collected at time 1 (T(1)) during hospital admission, time 2 (T(2)) approximately 2 months post-PCI, and time 3 (T(3)) approximately 12 months post-PCI. Results suggest that the allocation to an individualized, comprehensive, home-based cardiac rehabilitation program provided more advantageous outcomes. At both follow-ups, the intervention group showed within-group improvement in serum cholesterol levels (P<0.02; P<0.01) and exercise participation (P<0.001; P<0.001) with differences in exercise participation favoring the intervention group (P<0.01) at T(2). Repeated measures ANOVA showed significant improvements over time in body mass index (BMI) (P<0.01), psychological well-being (P<0.001), and functional capacity (P<0.001) for both groups. More patients in the intervention group had returned to work at T(2) (P<0.001) and did so more quickly (P<0.01). These findings suggest that an individualized, comprehensive, home-based cardiac rehabilitation program improves risk factor profiles and work resumption patterns for patients following PCI.     

Impact of High-Molecular-Risk Mutations on Transplantation Outcomes in Patients with Myelofibrosis

Mutational profiling has demonstrated utility in predicting the likelihood of disease progression in patients with myelofibrosis (MF). However, there is limited data regarding the prognostic utility of genetic profiling in MF patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HCT). We performed high-throughput sequencing of 585 genes on pre-transplant samples from 101 patients with MF who underwent allo-HCT and evaluated the association of mutations and clinical variables with transplantation outcomes. Overall survival (OS) at 5 years post-transplantation was 52%, and relapse-free survival (RFS) was 51.1 % for this cohort. Nonrelapse mortality (NRM) accounted for most deaths. Patient's age, donor's age, donor type, and Dynamic International Prognostic Scoring System score at diagnosis did not predict for outcomes. Mutations known to be associated with increased risk of disease progression, such as ASXL1, SRSF2, IDH1/2, EZH2, and TP53, did not impact OS or RFS. The presence of U2AF1 (P = .007) or DNMT3A (P = .034) mutations was associated with worse OS. A Mutation-Enhanced International Prognostic Scoring System 70 score was available for 80 patients (79%), and there were no differences in outcomes between patients with high risk scores and those with intermediate and low risk scores. Collectively, these data identify mutational predictors of outcome in MF patients undergoing allo-HCT. These genetic biomarkers in conjunction with clinical variables may have important utility in guiding transplantation decision making.     

Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida

Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non‐genetics professionals (NGPs) perform guideline‐based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pre‐test counseling lasting 11–30 min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance‐related issues. Few constructed a three‐generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline‐based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at‐risk patients to in person or telephone services provided by genetics professionals.     

Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling?

PurposeVideoconferencing is increasingly used to deliver family cancer services for hereditary breast and ovarian cancer to outreach areas. This study compared the effectiveness and acceptability of genetic counseling for hereditary breast and ovarian cancer through videoconferencing (hereafter referred to as “telegenetics”).MethodsOne hundred six women seen by telegenetics and 89 women seen face-to-face completed self-administered questionnaires before, and 1 month after, genetic counseling. Telegenetics consultations involved a genetic clinician via telegenetics in addition to a local genetic counselor present with the patient.ResultsNo significant differences were found between telegenetics and face-to-face genetic counseling in terms of knowledge gained (P = 0.55), satisfaction with the genetic counseling service (P = 0.76), cancer-specific anxiety (P = 0.13), generalized anxiety (P = 0.42), depression (P = 0.96), perceived empathy of the genetic clinician (P = 0.13), and perceived empathy of the genetic counselor (P = 0.12). Telegenetics performed significantly better than face-to-face counseling in meeting patients' expectations (P = 0.009) and promoting perceived personal control (P = 0.031).ConclusionTelegenetics seems to be an acceptable and effective method of delivering genetic counseling services for hereditary breast and ovarian cancer to underserved areas.     

Effectiveness of GP access to magnetic resonance imaging of the knee: a randomised trial

Background

GPs commonly see patients with knee problems. Magnetic resonance imaging (MRI) of the knee is an accurate diagnostic test for meniscus and ligament injuries of the knee, but there is uncertainty about the appropriate use of MRI and when it should enter the diagnostic pathway for patients with these problems.

Aim

To assess the effectiveness of GP referral to early MRI and a provisional orthopaedic appointment, compared with referral to an orthopaedic specialist without prior MRI for patients with continuing knee problems.

Design of study

Pragmatic multicentre randomised trial with two parallel groups.

Setting

A total of 553 patients consulting their GP about a continuing knee problem were recruited from 163 general practices at 11 sites across the UK.

Method

Patients were randomised to MRI within 12 weeks of GP referral including a provisional orthopaedic appointment, or orthopaedic appointment without prior MRI within a maximum of 9 months from GP referral. The primary outcome measures were the Short Form 36-item (SF-36) physical functioning scale and the Knee Quality of Life 26-item Questionnaire (KQoL-26) at 6, 12, and 24 months.

Results

Patients randomised to MRI improved mean SF-36 physical functioning scores by 2.81 (95% confidence interval [CI] = −0.26 to 5.89) more than those referred to orthopaedics (P = 0.072). Patients randomised to MRI improved mean KQoL-26 physical functioning scores by 3.65 (95% CI = 1.03 to 6.28) more than controls (P = 0.007). There were no other significant differences.

Conclusion

GP access to MRI yielded small, but statistically significant, benefits in patients'' knee-related quality of life but non-significant improvements in physical functioning.     

Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi,China

Objective: The prevalence of breast cancer susceptibility gene 1 mutation in breast cancer patients of south China has not been well revealed. This study was to invest the prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China, and to try reflecting its relevance in genetic counseling of breast cancer. Methods: In this study, 463 breast cancer patients and 30 healthy women (control group) were involved. Entire sequence and splicing sites of BRCA1 genes were detected by PCR-DNA sequencing. Results: About 8.9% (41/463) patients were with 22 BRCA1 mutations (all in exon 10). The average hospitalized age of BRCA1-associated breast cancer cases was significantly younger (t = -2.965, P = 0.003). The nuclear grade (U = 2321.0, P = 0.030), ER (U = 4343.5, P = 0.041) and CerbB-2 (U = 3894.0, P = 0.038) expression levels, and triple negative breast cancer diagnosing rate (χ² = 4.719, P = 0.03) were disclosed more in BRCA1-associated patients. Conclusions: The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 624 C > T) found in female breast cancer cases in Guangxi are all located in exon 10. BRCA1-associated breast cancer cases have earlier onset age, higher nuclear grade and negative ER and CerbB-2 expression.     

Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

Distinguishing autosomal‐dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture‐based next‐generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease‐causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.     

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

PurposeCDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.MethodsCDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.ResultsOverall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.ConclusionThe inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.     

Haplotypes in the 5′‐untranslated region of the CYP1A2gene are inversely associated with lung cancer risk but do not correlate with caffeine metabolism

In this study, we analyzed the influence of CYP1A2 genetic variation and enzyme activity on lung cancer risk in a high‐incidence area. A total of 95 lung cancer patients and 196 controls were genotyped for the ?3860G/A, ?3113A/G, ?2467T/delT, ?739T/G, and ?163C/A polymorphisms in the 5′‐untranslated region of the gene. In addition, a subset of 70 patients and 115 controls were phenotyped by high‐performance liquid chromatography determination of the caffeine metabolic ratio (CMR). The ?2467T/delT polymorphism and the CYP1A2*1V haplotype (‐163C>A, ?2467T>delT) were inversely associated with lung cancer risk (odds ratio [OR] = 0.47 [0.2–0.9]; P = 0.02 and OR = 0.13 [0.02‐1.0]; P = 0.04; respectively). In addition, the CYP*1A/*1V and *1F (‐163C>A)/*1D (?163C>A, ?2467T>delT) diplotypes were absent in the patients group, whereas accounting for 7.1% (P = 0.017) and 5.6% (P = 0.037) of controls, respectively. Mean CMR was significantly higher in patients than in controls (10.50 ± 17.31 vs. 6.52 ± 6.26, P = 0.01) but regression analyses did not yield significant ORs for the association with lung cancer risk. Similarly, no significant correlations were found between any genetic variant and enzyme activity. Several CYP1A2 haplotypes and diplotypes containing the ?2467delT variant were associated with lower lung cancer risk; however, they did not correlate with significant changes in CYP1A2 metabolic activity toward caffeine. Environ. Mol. Mutagen., 2013. © 2012 Wiley Periodicals, Inc.