Disclosure Of Genetic Test Results Research Articles

Longitudinal follow-up after telephone disclosure in the randomized COGENT study

PurposeTo better understand the longitudinal risks and benefits of telephone disclosure of genetic test results in the era of multigene panel testing. MethodsAdults who were proceeding with germline cancer genetic testing were randomized to telephone disclosure (TD) with a genetic counselor or in-person disclosure (IPD) (i.e., usual care) of test results. All participants who received TD were recommended to return to meet with a physician to discuss medical management recommendations. ResultsFour hundred seventy-three participants were randomized to TD and 497 to IPD. There were no differences between arms for any cognitive, affective, or behavioral outcomes at 6 and 12 months. Only 50% of participants in the TD arm returned for the medical follow-up appointment. Returning was associated with site (p<0.0001), being female (p=0.047), and not having a true negative result (p<0.002). Mammography was lower at 12 months among those who had TD and did not return for medical follow-up (70%) compared with those who had TD and returned (86%) and those who had IPD (87%, adjusted p<0.01). ConclusionTelephone disclosure of genetic test results is a reasonable alternative to in-person disclosure, but attention to medical follow-up may remain important for optimizing appropriate use of genetic results.

Abstract IA11: Women at high risk for ovarian cancer: Novel strategies for identification and prevention

Abstract Most women carry a lifetime risk of 1.4% of ovarian cancer. However, certain women with germline mutations in BRCA1, BRCA2, or other hereditary cancer genes have elevated lifetime risks, some as high as 50%. Identification of these unaffected, high-risk women, followed by patient-centered prevention strategies, is key to decreasing overall mortality from ovarian cancer. A number of barriers exist for identification—including cost, patient preference, and availability of genetics services. In an effort to decrease these barriers, novel delivery systems of genetic testing have been developed. We are currently testing an on-line genetic counseling and testing strategy in a study called Making Genetic Testing Accessible (MAGENTA). We hypothesize that online genetic education and testing with access to board-certified genetic counselors could improve access to genetic testing while maintaining test quality and clinical utility. In this prospective, randomized, national clinical trial, over 3,000 women with a family history of breast or ovarian cancer will undergo genetic testing. We will compare the effectiveness of online genetic education with optional telephone counseling with three other strategies: online genetic education with required pretest telephone genetic counseling, online genetic education with required post-test telephone genetic counseling, and online genetic education with required pre- and post-test telephone genetic counseling. The primary outcome is cancer risk distress at 3 months post disclosure of genetic test results. Additional endpoints include testing completion rate (defined as receiving results), genetics knowledge, cognitive outcomes (i.e., decisional satisfaction, decisional regret), and behavioral outcomes. We currently have women enrolled from all 50 states in the United States. Preliminary data from this study will be presented. In addition, we will discuss our prospective, multicenter surgical prevention study that has enrolled over 200 women nationwide who have undergone either a salpingectomy or risk-reducing salpingo-oophorectomy (RRSO). The concept of salpingectomy with delayed oophorectomy as a cancer-prevention strategy for high-risk women is based on multiple studies implicating the fallopian tube epithelia as the cell of origin for BRCA-associated high-grade serous ovarian cancer. This information, coupled with high-risk women’s desire to minimize side effects associated with surgical menopause from RRSO, forms the rationale for the study. Finally, we will discuss plans for a prospective, international trial of salpingectomy in high-risk women that will be powered for a cancer efficacy endpoint. Citation Format: Karen H. Lu. Women at high risk for ovarian cancer: Novel strategies for identification and prevention [abstract]. In: Proceedings of the AACR Special Conference on Advances in Ovarian Cancer Research; 2019 Sep 13-16, 2019; Atlanta, GA. Philadelphia (PA): AACR; Clin Cancer Res 2020;26(13_Suppl):Abstract nr IA11.

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.

Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect.

BackgroundIn 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center.MethodsAs part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre‐ and post‐testing RP values, 39 also had contemporaneous research clinic notes and recent semi‐structured interviews available for analysis.ResultsThe data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27% of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results.ConclusionsThe data suggest that individuals’ RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.

Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study.

Multigene panels (MGPs) are increasingly being used despite questions regarding their clinical utility and no standard approach to genetic counseling. How frequently genetic providers use MGP testing and how patient-reported outcomes (PROs) differ from targeted testing (eg, BRCA1/2 only) are unknown. We evaluated use of MGP testing and PROs in participants undergoing cancer genetic testing in the multicenter Communication of Genetic Test Results by Telephone study (ClinicalTrials.gov identifier: ), a randomized study of telephone versus in-person disclosure of genetic test results. PROs included genetic knowledge, general and state anxiety, depression, cancer-specific distress, uncertainty, and satisfaction. Genetic providers offered targeted or MGP testing based on clinical assessment. Since the inclusion of MGP testing in 2014, 395 patients (66%) were offered MGP testing. MGP testing increased over time from 57% in 2014 to 66% in 2015 (P = .02) and varied by site (46% to 78%; P < .01). Being offered MGP testing was significantly associated with not having Ashkenazi Jewish ancestry, having a history of cancer, not having a mutation in the family, not having made a treatment decision, and study site. After demographic adjustment, patients offered MGP testing had lower general anxiety (P = .04), state anxiety (P = .03), depression (P = .04), and uncertainty (P = .05) pre-disclosure compared with patients offered targeted testing. State anxiety (P = .05) and cancer-specific distress (P = .05) were lower at disclosure in the MGP group. There was a greater increase in change in uncertainty (P = .04) among patients who underwent MGP testing. MGP testing was more frequently offered to patients with lower anxiety, depression, and uncertainty and was associated with favorable outcomes, with the exception of a greater increase in uncertainty compared with patients who had targeted testing. Addressing uncertainty may be important as MGP testing is increasingly adopted.

Patient communication of cancer genetic test results in a diverse population.

Research on the communication of genetic test results has focused predominately on non-Hispanic White (NHW) mutation-positive families with high-risk hereditary cancer conditions. Little is known about this process for racially and ethnically diverse individuals or for those with mutations in moderate risk genes. The communication behaviors of study participants who carry a gene mutation were analyzed 3 months after disclosure of genetic test results. Participants were queried about communication of their results, as part of a prospective study of multi-gene panel genetic testing. The responses of particpants who tested positive were analyzed by race/ethnicity and by level of cancer risk (high vs. moderate). Of the 216 mutation-positive study participants, 136 (63%) responded. Self-reported race/ethnicity was 46% NHW, 41% Hispanic, 10% Asian, and 2% Black. The majority (99.0%, n = 135) had shared their results with someone and 96% had told a family member (n = 130). Hispanic respondents were less likely to have told a healthcare provider about their results than NHW (29% vs. 68%, p < .0001). Asian respondents were less likely than NHW to encourage family members to undergo testing (OR = 0.1, p = .03); but Asian family members were more likely to undergo testing (OR = 8.0, p = .03). There were no differences in communication between those with a mutation in a high- or moderate-risk gene. Three months post genetic testing, communication of results was very high; 30% reported a family member underwent genetic testing. Further studies are needed to better understand the communication process in individuals from diverse racial/ethnic backgrounds.

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

PurposeTelephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.MethodsIn a multisite trial of Alzheimer’s disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in-person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.ResultsData from 257 participants showed that telephone disclosure occurred 7.4 days sooner and were 30% shorter, on average, than in-person disclosure (both p<0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% CIs of mean differences were within non-inferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Sub-analyses supported non-inferiority on all outcomes among APOE ε4-negative participants. Sub-analyses were inconclusive for APOE ε4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern.ConclusionTelephone disclosure of APOE results and risk for Alzheimer’s disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease.

Extended follow-up in the COGENT study: A randomized study of in-person versus telephone disclosure of cancer genetic test results.

1504 Background: Alternative delivery models are needed in the era of Precision Medicine given a shortage of genetic providers and increasing utilization of genetic testing. Telephone disclosure (TD) of genetic test results, including multi-gene panel testing, is non-inferior to usual care in-person disclosure (IPD) for short-term distress but failed non-inferiority for knowledge. Longitudinal data including health behaviors are needed. Methods: 970 patients undergoing clinical genetic testing at 5 centers were randomly assigned to usual care IPD (n = 497) or TD (n = 473) of results in the COGENT Study (NCT01736345). Participants completed surveys after pre-test counseling, post-disclosure and at 6 and 12 months. We used non-inferiority tests for primary analyses and T-tests and logistic regressions for secondary analyses. Results: TD was not worse than IPD for anxiety both post-disclosure and at 6 months, but did not reach the non-inferiority threshold for knowledge at either time point. In secondary analyses there were no significant differences in anxiety, depression, or cancer worry between arms, but there was less knowledge gain at 6 (-0.41 v. +0.11 in IPD, p = 0.05) and 12 months (-0.34 v. +0.31 in IPD, p = 0.05) in the TD arm. In the TD arm, 195 (50%) returned for clinical follow-up with a physician to discuss medical management. Not returning for follow-up varied by site and was associated with a negative result, being male and non-white. Knowledge gain at 6 months was lower for those who did not return for follow-up (-0.77) compared to those who returned (-0.17, p = 0.08). There were no significant differences by arm at 6 and 12 months in performance of mammogram, breast MRI, colonoscopy or prophylactic surgeries. Conclusions: Distress is not unacceptably worse with TD, but knowledge failed the test for non-inferiority. Longitudinal knowledge declined more for those who did not return for medical follow-up, but uptake of screening and risk reducing behaviors did not differ by arm. Telephone disclosure of genetic test results, even MGPT, may be a reasonable alternative to in-person disclosure for patients who agree to return to meet with a provider for medical management recommendations. Clinical trial information: NCT01736345.

Patient-reported outcomes in a multicenter randomized study of in-person versus telephone disclosure of genetic test results for cancer susceptibility.

1502Background: Genetic testing for cancer predisposition traditionally includes in-person pre- and post-test genetic counseling. Outcomes of telephone delivery of a range of cancer genetic test re...

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

Many factors predict the intention to disclose genetic information to relatives. The article examines the impact of patients' socio-demographic factors on their intention to disclose genetic testing results to their relatives. Data were collected in eight genetic clinics in Israel. Patients were requested to fill in a questionnaire after counseling. A convenience sample of 564 participants who visited these clinics was collected for a response rate of 85 %. Of them, 282 participants came for susceptibility testing for hereditary cancers (cancer group), and 282 for genetic screening tests (prenatal group). In the cancer group, being secular and having more years of education correlated positively with the intention to disclose test results to relatives. In the prenatal group, being married and female correlated positively with the intention to disclose. In the cancer group, being religious and with less years of education correlated positively with the view that the clinician should deliver the results to the family. In the prenatal group, being male and unmarried correlated positively with this belief. In both groups, being of young age correlated with the perception that genetic information is private. Varied sociodemographic factors affect the intention to inform family members. Thus, knowing the social background of patients will shed light on people's attitudes to genetic information and will help clinicians provide effective counseling in discussions with patients about the implications of test results for relatives.

Is there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder?

There is no reported investigation comparing concordance in attitudes and beliefs about autism spectrum disorder between parents of children with autism spectrum disorder and scientists who research autism spectrum disorder. To investigate the level of concordance between these groups on causes of autism, priorities of research, perceived stigma, and disclosure of genetic test results, telephone interviews were conducted. Parents (n = 502) were recruited from the Simons Simplex Collection, and research scientists (n = 60) were recruited from investigators funded by the Simons Foundation. Response rates were notable (parents 91%, scientists 80%). Parents and scientists differed significantly regarding beliefs of the likely major cause of autism (p = 0.007) and priorities for further research (p < 0.001). Scientists believed in genetic causes while many parents believed in vaccines as the cause of autism. Parents (37%) were more likely to hesitate vaccinating their child (p < 0.001). In contrast, there was strong concordance regarding extent of perceived stigma (95% vs 92%) and preferences for disclosure of genetic test results, including incidental findings. While scientists believed communication important, paradoxically fewer than half reported it important for scientists to communicate directly with parents. Better communication between parents and scientists should improve mutual understanding and ultimately the health and well-being of children with autism spectrum disorder and their families.

Development of a communication protocol for telephone disclosure of genetic test results for cancer predisposition.

BackgroundDissemination of genetic testing for disease susceptibility, one application of “personalized medicine”, holds the potential to empower patients and providers through informed risk reduction and prevention recommendations. Genetic testing has become a standard practice in cancer prevention for high-risk populations. Heightened consumer awareness of “cancer genes” and genes for other diseases (eg, cardiovascular and Alzheimer’s disease), as well as the burgeoning availability of increasingly complex genomic tests (ie, multi-gene, whole-exome and -genome sequencing), has escalated interest in and demand for genetic risk assessment and the specialists who provide it. Increasing demand is expected to surpass access to genetic specialists. Thus, there is urgent need to develop effective and efficient models of delivery of genetic information that comparably balance the risks and benefits to the current standard of in-person communication.ObjectiveThe aim of this pilot study was to develop and evaluate a theoretically grounded and rigorously developed protocol for telephone communication of BRCA1/2 (breast cancer) test results that might be generalizable to genetic testing for other hereditary cancer and noncancer syndromes.MethodsStakeholder data, health communication literature, and our theoretical model grounded in Self-Regulation Theory of Health Behavior were used to develop a telephone communication protocol for the communication of BRCA1/2 genetic test results. Framework analysis of selected audiotapes of disclosure sessions and stakeholders’ feedback were utilized to evaluate the efficacy and inform refinements to this protocol.ResultsStakeholder feedback (n=86) and audiotapes (38%, 33/86) of telephone disclosures revealed perceived disadvantages and challenges including environmental factors (eg, non-private environment), patient-related factors (eg, low health literacy), testing-related factors (eg, additional testing needed), and communication factors (eg, no visual cues). Resulting modifications to the communication protocol for BRCA1/2 test results included clarified patient instructions, scheduled appointments, refined visual aids, expanded disclosure checklist items, and enhanced provider training.ConclusionsAnalyses of stakeholders’ experiences and audiotapes of telephone disclosure of BRCA1/2 test results informed revisions to communication strategies and a protocol to enhance patient outcomes when utilizing telephone to disclose genetic test results.

Cigarette smoking in women after BRCA1/2 genetic test disclosure: a 5-year follow-up study of the GENEPSO PS cohort.

This study aimed to measure patients' smoking patterns for 5 years after BRCA1/2 test result disclosure. A national cohort consisting of 621 French cancer-free women from families with BRCA1/2 mutations (mean age (SD): 40.5 years (11.5 years)) were included from December 1999 to January 2006, before disclosure of genetic test results, and followed for 5 years. They completed self-administered questionnaires about their cigarette smoking behaviors before receiving their test results (baseline) and 6, 12, 24, and 60 months after disclosure. Multivariate statistical analyses of the changes in participants' smoking behaviors were performed using a zero-inflated Poisson mixed model. Baseline smoking was found to depend on age, educational level, marital status, alcohol consumption, body mass index, and cancer risk perception. The zero-inflated part of the model showed the occurrence of no significant changes in the percentage of smokers during the 5 years after disclosure of the BRCA1/2 test results; however, daily smoking among BRCA1/2 carriers decreased significantly compared with that of noncarriers (adjusted hazard ratio = 0.83; (95% confidence interval: 0.69-0.99); P = 0.04) after adjusting for baseline smoking behavior. It would be worth investigating the possibility of counseling women during the genetic testing process about the multiple risk factors involved in cancer, such as genetic and lifestyle factors.

Disclosure Pattern and Follow‐Up After the Molecular Diagnosis of BRCA/CHEK2 Mutations

Five to 10% of all breast cancer cases are due to mutations of high penetrance susceptibility genes, especially BRCA1 and BRCA2. In families with known BRCA mutations, disclosure of genetic test results could induce relatives to undergo genetic testing themselves and adopt cancer risk management strategies, if necessary. This study examines disclosure patterns of individuals tested for mutations in the BRCA1, BRCA2 and CHEK2 genes to first-degree relatives with emphasis on a possible gender difference. It also assesses which management strategy is preferred by mutation-positive women in Belgium and the influence of psychological characteristics on communication and choice of management strategy. Ninety-nine adults from BRCA/CHEK2 families, selected from the Centre of Medical Genetics of Antwerp, were included in the study. They were provided with medical and psychological questionnaires, the latter being the Self-Assessment Questionnaire, which is the Dutch version of the Spielberger State-Trait Anxiety Inventory and the Dutch version of the Coping Inventory for Stressful Situations (CISS-NL). The survey focused on disclosure, coping and management strategies with special attention on possible gender differences. The influence of socio-demographic and medical data on disclosure and cancer risk management as well as the influence of psychological features were examined by means of various statistical analyses. Ninety-nine patients were included, of whom 25 (25 %) were male. Eighty-seven percent of the participants informed all of their adult first-degree relatives about their mutation status without any gender discrimination. Seventy-eight percent of highly-educated participants informed all of their adult first-degree relatives, compared to 98 % of less formally-educated participants (p = 0.006). The majority of mutation-positive women preferred prophylactic surgery to surveillance. Psychological differences appeared to have little influence on disclosure patterns and management strategies. The gender difference seems to be less pronounced than previously assumed. A striking observation, however, is the fact that significantly more participants who were less formally-educated informed all of their adult first-degree relatives, compared to participants who were highly-educated. In our study population, most female mutation carriers opted for prophylactic surgery. Since the study population is small, further studies are needed to enhance the generalizability of these results.

Effects of disclosing hypothetical genetic test results for salt sensitivity on salt restriction behavior

BackgroundA few studies have explored the effects of disclosure of genetic testing results on chronic disease predisposition. However, these effects remain unclear in cases of hypertension. Reducing salt intake is an important nonpharmacological intervention for hypertension. We investigated the effects of genetic testing for salt sensitivity on salt restriction behavior using hypothetical genetic testing results.MethodsWe conducted a cross-sectional study using a self-completed questionnaire. We enrolled consecutive outpatients who visited primary care clinics and small hospitals between September and December 2009 in Japan. We recorded the patients’ baseline characteristics and data regarding their salt restriction behavior, defined as reducing salt intake before and after disclosure of hypothetical salt sensitivity genetic test results. Behavioral stage was assessed according to the five-stage transtheoretical model. After dividing subjects into salt restriction and no salt restriction groups, we compared their behavioral changes following positive and negative test results and analyzed the association between the respondents’ characteristics and their behavioral changes.ResultsWe analyzed 1562 participants with a mean age of 58 years. In the no salt restriction group, which included patients at the precontemplation, contemplation, and preparation stages, 58.7% stated that their behavioral stage progressed after a positive test result, although 29.8% reported progression after a negative result (P < 0.001). Conversely, in the salt restriction group, which included patients at the active and maintenance stages, 9.2% stated that they would quit restricting salt intake following a negative test result, and 2.2% reported they would quit following a positive result (P < 0.001). Age < 65 years (adjusted odds ratio [OR] 1.74; 95% confidence interval [CI] 1.12–2.71), female gender (adjusted OR 1.84; CI 1.29–2.62), graduation from college or university (adjusted OR 1.66; CI 1.11–2.49), and desire for genetic testing (adjusted OR 4.53; CI 3.13–6.57) were associated with progression of behavioral stage in the no salt restriction group. Conversely, salt preference (adjusted OR 2.13; CI 1.31–3.49) was associated with quitting salt restriction in the salt restriction group.ConclusionPatients in the no salt restriction group show the possibility of progression from the behavioral stage to the action stage after testing positive for salt sensitivity. Conversely, patients in the salt restriction group, particularly those with a salt preference, would quit salt restriction after testing negative.

Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure

Communication of genetic risk is a complex process in which the rights of the individual and those of relatives may conflict with regard to the information revealed by DNA testing. If patients who participate in clinical genetic testing refuse to share their genetic information with at-risk relatives, healthcare professionals need to reach a proper ethical balance between the right of individual patients regarding the confidentiality of their genetic test result and the right of families to be informed about their genetic risk. Rules and legislation in most countries generally protect the confidentiality of medical information but allow limited disclosure of genetic test results without the patient's consent in specific cases when certain conditions are met. The aim of this article is to draw attention to how Italian policymakers have attempted to balance protection of autonomy and confidentiality, and protection of health by means of a hybrid instrument. Furthermore, we show that some of the requirements of that instrument depart from the most widely recognized standards for non-consensual disclosure of genetic risk information, while at the same time allowing an unusually high level of discretion to healthcare professionals involved in genetic counseling and testing.

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.

Knowledge and perceived risks in couples undergoing genetic testing after recurrent miscarriage or for poor semen quality

Couples with recurrent miscarriage (RM) and men with poor semen quality may undergo genetic testing as part of the diagnostic work-up. This study explored their knowledge and perception of genetic testing, evaluated psychological wellbeing and identified associated variables. A prospective questionnaire study was conducted in seven clinical genetics centres and referring gynaecological departments in couples with RM or poor semen quality. Questionnaires were completed before disclosure of genetic test results. Main outcome measures were knowledge, perceived risk, anxiety and depression. Of 439 participants, 256 were not aware genetic testing was part of the diagnostic work-up. One-third (36% RM, 33% poor semen quality) indicated they had not received information about the genetic test from their doctor. Perceived risk of receiving an abnormal genetic test result was higher than objective risk. Anxiety was highly correlated with perceived risk. Women with RM were more anxious than women in the poor semen quality group or men ( P < 0.01). These couples undergoing genetic testing have a suboptimal understanding of the nature of testing, overestimate the risks of receiving an abnormal result and some show high levels of anxiety. The results of this study can be used to improve patient counselling before genetic testing. Couples with recurrent miscarriage (RM) and couples with men with poor semen quality, may undergo genetic testing as part of the diagnostic work-up to establish the cause. We explored the knowledge and perception of genetic testing in these couples and evaluated their psychological wellbeing. We provided questionnaires in seven clinical genetics centres and referring gynaecological departments to couples with RM or poor semen quality. The questionnaires were completed before receiving the result of the genetic test. We asked couples about knowledge, perceived risk, anxiety and depression. Of 439 participants, 256 said they were not aware genetic testing was part of the diagnostic work-up. One-third (36% RM, 33% poor semen quality) indicated they had not received information about the genetic test from their doctor. Almost all participants overestimated their risk of receiving an abnormal genetic test result. The overestimation was highest in participants who were more anxious. Women with RM were more anxious than women in the poor semen quality group or men ( P < 0.01). These couples undergoing genetic testing have a suboptimal understanding of the nature of testing, overestimate the risks of receiving an abnormal result and some indicate high levels of anxiety. The results of this study can be used to improve patient counselling before genetic testing.

Responses to Online GSTM1 Genetic Test Results among Smokers Related to Patients with Lung Cancer: A Pilot Study

Providing smokers with personal genetic test results indicating increased lung cancer risk may increase uptake of effective smoking cessation services. Using the internet may increase reach and enable real-time assessment of how people process genetic risk information away from the clinic setting. We therefore explored smokers' responses to Web-delivered GSTM1 genetic test results indicating higher or lower lung cancer risk. Participants were smokers (n = 44) biologically related to patients with newly diagnosed lung cancer. Measures were assessed at baseline, before and immediately after receipt of online genetic test results, and at 6-month follow-up. Outcomes included accurate comprehension of results, regret about being tested, cessation-related cognitions (e.g., perceived response efficacy), and uptake of free smoking cessation services (nicotine replacement therapy, printed self-help materials, telephone counseling sessions). Twenty-two "relative smokers" received a GSTM1-missing (higher risk) and 22 a GSTM1-present (lower risk) result. All relative smokers with GSTM1-missing results and 55% of those with GSTM1-present results accurately interpreted their results. No relative smokers regretted having taken the test. Relative smokers receiving GSTM1-missing results reported lower confidence that quitting could reduce lung cancer risk (perceived response efficacy) than those receiving GSTM1-present results. There were no other significant between-group differences. Uptake of smoking cessation services was high (e.g., 91% nicotine replacement therapy uptake). Genetic test results may not influence uptake of free smoking cessation services because of ceiling effects. Further research is needed to determine the risks and benefits of Web-based disclosure of genetic test results.

Telephone disclosure of BRCA1/2 test results? Opinions of recipients of BRCA1/2 testing.

Abstract Abstract #2098 Background: Disclosure of BRCA1/2 test results has historically been conducted in person by a health care professional. Due to increasing consumer demand for, and access to BRCA1/2 testing, as well as the increasing prevalence and acceptance of telemedicine, there has been interest among those who provide BRCA1/2 testing in delivering risk assessment and genetic counseling services, including disclosure of genetic test results, by telephone and internet. Consumers' opinions regarding, and interest in receiving their genetic test results via telephone have not been well described. Method: Conducted semi-structured telephone interviews with individuals who had received BRCA1/2 test results in the last 9 months or were awaiting BRCA1/2 test results to assess opinions about the use of telephone disclosure (TD) among consumers of BRCA1/2 genetic testing. To date: 30 participants interviewed. Results: Although 90% (23/26) of participants who had received their genetic test results reported being satisfied or very satisfied with their in-person disclosure session, 50% reported that they would have been interested in receiving results by telephone. 47% stated they would have preferred in-person disclosure. Interest in TD did vary by test result (interested: mutation carriers 2/7, 29%; VUS 1/3, 33%; true negative 4/8, 50%; indeterminate 5/8, 53%). A greater proportion of men reported interest in TD (3/4, 75%). Interest in TD did not appear to vary by age. In response to open query, the most frequently reported perceived advantage to TD was convenience (n = 10); the most frequently cited perceived disadvantage was lack of visual and personal connection between recipient and provider (n =15). Among those awaiting test results, 3/4 (75%) reported that they would have been interested in TD. 67% would prefer that TD be conducted by a genetic counselor or physician; 57% would prefer a genetic counselor and 10% would prefer a physician. Many (60%) reported that they would be willing to return for an in-person visit, although 24% stated that this would depend upon their results. Discussion: The results of this ongoing study suggest that many consumers of BRCA1/2 testing may be interested in receiving test results by telephone. Continued enrollment at 2 additional sites will allow for multivariate analysis of the biopsychosocial factors associated with consumer interest in TD. Given consumer and provider interest, and the expansion of testing for BRCA1/2 and other hereditary cancer syndromes, longitudinal study of the cognitive, affective and behavioral responses to TD is warranted. Understanding the impact of TD on factors such as, comprehension, risk perception, communication and performance of risk reducing behaviors, and their mediators will be critical for the development of TD policy and procedures that will optimize adaptive responses to receiving genetic test results via telephone or internet. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 2098.